Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut FPR3 2359 broad.mit.edu 37 19 52327427 52327427 + Silent SNP C C A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:52327427C>A ENST00000339223.4 + 2 605 c.426C>A c.(424-426)gcC>gcA p.A142A FPR3_ENST00000595991.1_Silent_p.A142A NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 142 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TGAGTCTGGCCAAGAGGGTGA 0.483000 12 38 0.000978159 0.00114596 0.000978 1 0 NCK2 8440 broad.mit.edu 37 2 106497949 106497949 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:106497949C>T ENST00000233154.4 + 4 834 c.392C>T c.(391-393)tCc>tTc p.S131F NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.S131F NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 131 SH3 2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GATGAGTTGTCCCTGGTGAAG 0.642000 14 36 0 0 0.002450 0 0 SAMHD1 25939 broad.mit.edu 37 20 35575208 35575208 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:35575208C>T ENST00000262878.4 - 2 408 c.e2-1 SAMHD1_ENST00000373694.5_Splice_Site NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) ATTTCATTTTCTATGGAAGAA 0.328000 9 11 0 0 0.008291 0 0 ZNF34 80778 broad.mit.edu 37 8 145998669 145998669 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:145998669C>T ENST00000429371.2 - 6 1755 c.1602G>A c.(1600-1602)cgG>cgA p.R534R ZNF34_ENST00000343459.4_Silent_p.R555R NM_030580.3 NP_085057.3 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) AGAAGTCCTCCCGGAGGTGAA 0.602000 10 22 0 0 0.006214 0 0 OR8D1 283159 broad.mit.edu 37 11 124180299 124180299 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:124180299G>A ENST00000357821.2 - 1 434 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GCAACATAGCGATCATATGCC 0.488000 9 10 0 0 0.004482 0 0 ZNF160 90338 broad.mit.edu 37 19 53572807 53572807 + Missense_Mutation SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:53572807T>A ENST00000601421.1 - 3 1748 c.872A>T c.(871-873)tAc>tTc p.Y291F ZNF160_ENST00000599056.1_Missense_Mutation_p.Y327F|ZNF160_ENST00000418871.1_Missense_Mutation_p.Y327F|ZNF160_ENST00000429604.1_Missense_Mutation_p.Y327F Q9HCG1 ZN160_HUMAN zinc finger protein 160 327 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AGTTGCAAGGTATGAATTGTG 0.403000 18 59 0 0 0.004990 0 0 RGL4 266747 broad.mit.edu 37 22 24036575 24036575 + Missense_Mutation SNP C C G rs143837743 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:24036575C>G ENST00000290691.5 + 5 2124 c.954C>G c.(952-954)atC>atG p.I318M RGL4_ENST00000401461.1_Missense_Mutation_p.I182M NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 318 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 TGCACGTCATCGTCTCTGCTC 0.572000 8 42 0 0 0.003080 0 0 BZRAP1 9256 broad.mit.edu 37 17 56393447 56393447 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:56393447G>A ENST00000355701.3 - 16 2905 c.2035C>T c.(2035-2037)Ccg>Tcg p.P679S BZRAP1_ENST00000343736.4_Missense_Mutation_p.P679S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P619S NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 679 SH3 1. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTGTCAGCGGAAGCTCTGCT 0.522000 53 84 0 0 0.003610 0 0 SLIT2 9353 broad.mit.edu 37 4 20620478 20620478 + Missense_Mutation SNP G G A rs147726667 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:20620478G>A ENST00000504154.1 + 37 4688 c.4436G>A c.(4435-4437)cGa>cAa p.R1479Q SLIT2_ENST00000273739.5_Missense_Mutation_p.R1492Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1475Q|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1471Q NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1479 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.R1479Q(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AAGGTGTCCCGATTAGAGTGC 0.507000 25 18 0 0 0.002780 0 0 KDM2B 84678 broad.mit.edu 37 12 121947408 121947408 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:121947408C>T ENST00000377069.4 - 11 1922 c.1516G>A c.(1516-1518)Ggc>Agc p.G506S KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000538046.2_Missense_Mutation_p.G447S|KDM2B_ENST00000536437.1_Missense_Mutation_p.G420S|KDM2B_ENST00000377071.4_Missense_Mutation_p.G537S NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 537 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TCCTCGATGCCCTCGGGGACA 0.627000 24 41 0 0 0.002299 0 0 GOLGA8A 23015 broad.mit.edu 37 15 34673702 34673702 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:34673702C>T ENST00000543376.1 - 23 4047 c.1293G>A c.(1291-1293)gaG>gaA p.E431E GOLGA8A_ENST00000432566.2_Silent_p.E604E|GOLGA8A_ENST00000359187.4_Silent_p.E574E|GOLGA8A_ENST00000360553.3_Silent_p.E574E A7E2F4 GOG8A_HUMAN golgin A8 family, member A 602 Golgi cisterna membrane all_lung(180;2.78e-08) all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GGTCCTGCATCTCACCAAGGA 0.592000 12 51 0 0 0.000978 0 0 MUC17 140453 broad.mit.edu 37 7 100679004 100679004 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:100679004C>T ENST00000306151.4 + 3 4371 c.4307C>T c.(4306-4308)tCt>tTt p.S1436F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1436 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCCACTTCATCTCCTACAACT 0.517000 66 243 0 0 0.003610 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731541 140731541 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140731541G>A ENST00000523390.1 + 1 1714 c.1714G>A c.(1714-1716)Gat>Aat p.D572N PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCTCTTCGATATGGTGCC 0.662000 12 32 0 0 0.001882 0 0 ZNF521 25925 broad.mit.edu 37 18 22807313 22807313 + Missense_Mutation SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:22807313T>A ENST00000361524.3 - 4 717 c.569A>T c.(568-570)aAg>aTg p.K190M ZNF521_ENST00000584787.1_De_novo_Start_InFrame|ZNF521_ENST00000538137.2_Missense_Mutation_p.K190M NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 190 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TAAGTGGATCTTCAAGTGATC 0.488000 T PAX5 ALL 38 37 0 0 0.004878 0 0 ADH1C 126 broad.mit.edu 37 4 100264011 100264011 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:100264011C>T ENST00000515683.1 - 0 1120 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TCAGTCATTTCCTTTAGCACT 0.458000 206 262 0 0 0.003610 0 0 GRHL2 79977 broad.mit.edu 37 8 102585948 102585948 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:102585948G>A ENST00000251808.3 + 6 1125 c.787G>A c.(787-789)Ggg>Agg p.G263R GRHL2_ENST00000395927.1_Missense_Mutation_p.G247R NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 263 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TCAGAAGCAGGGGGAGGGCCC 0.507000 15 40 0 0 0.003163 0 0 RPAP1 26015 broad.mit.edu 37 15 41819137 41819137 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:41819137G>A ENST00000304330.4 - 14 1992 c.1876C>T c.(1876-1878)Cgt>Tgt p.R626C RPAP1_ENST00000561603.1_Missense_Mutation_p.R626C NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 626 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCCAGGACACGAAGTAGTTTC 0.572000 87 61 0 0 0.003610 0 0 INPPL1 3636 broad.mit.edu 37 11 71945360 71945360 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:71945360T>C ENST00000298229.2 + 20 2452 c.2248T>C c.(2248-2250)Ttt>Ctt p.F750L INPPL1_ENST00000538751.1_Missense_Mutation_p.F508L|INPPL1_ENST00000541756.1_Missense_Mutation_p.F508L NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 750 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CTACATTGAGTTTGAGAGCAT 0.547000 24 42 0 0 0.004656 0 0 MYO9B 4650 broad.mit.edu 37 19 17305747 17305747 + Nonsense_Mutation SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:17305747G>T ENST00000595618.1 + 22 3663 c.3511G>T c.(3511-3513)Gag>Tag p.E1171* MYO9B_ENST00000594824.1_Nonsense_Mutation_p.E1171*|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.E1171* NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1171 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GTCCTGCAAGGAGGAGAGTGC 0.557000 17 40 7.41877e-09 8.74634e-09 0.001882 1 0 VSTM4 196740 broad.mit.edu 37 10 50255028 50255028 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:50255028C>T ENST00000332853.3 - 7 860 c.837_splice c.e7+1 p.L279_splice NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 279 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GGTTACTTACCAGCGTGACTT 0.443000 94 36 0 0 0.003610 0 0 APPL2 55198 broad.mit.edu 37 12 105568156 105568156 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:105568156T>C ENST00000258530.3 - 21 2156 c.1931A>G c.(1930-1932)aAc>aGc p.N644S APPL2_ENST00000546731.1_Missense_Mutation_p.N87S|APPL2_ENST00000539978.2_Missense_Mutation_p.N601S|APPL2_ENST00000551662.1_Missense_Mutation_p.N650S NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 644 cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGGTTGATCGTTTAACAGTAC 0.438000 31 38 0 0 0.007291 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475983 140475983 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140475983G>A ENST00000194155.4 + 1 1757 c.1609G>A c.(1609-1611)Gac>Aac p.D537N NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 537 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGCCGCAGACCGCGGCTC 0.687000 17 53 0 0 0.006122 0 0 STK24 8428 broad.mit.edu 37 13 99114116 99114116 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:99114116G>A ENST00000397517.2 - 8 1041 c.965C>T c.(964-966)tCt>tTt p.S322F STK24_ENST00000539966.1_Missense_Mutation_p.S303F|STK24_ENST00000376547.3_Missense_Mutation_p.S334F NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 334 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CCAGTCCCCAGAATCACTGCC 0.532000 51 63 0 0 0.003610 0 0 MKRN2 23609 broad.mit.edu 37 3 12610448 12610448 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:12610448C>T ENST00000170447.7 + 2 238 c.101C>T c.(100-102)tCc>tTc p.S34F MKRN2_ENST00000411987.1_Intron|MKRN2_ENST00000448482.1_Missense_Mutation_p.S34F NM_001271707.1|NM_014160.3 NP_001258636.1|NP_054879.3 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 34 intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 AGCAAACCGTCCACCATCTGC 0.488000 20 32 0 0 0.002299 0 0 CADM2 253559 broad.mit.edu 37 3 85961612 85961612 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:85961612G>A ENST00000383699.3 + 6 1246 c.619G>A c.(619-621)Gga>Aga p.G207R CADM2_ENST00000407528.2_Missense_Mutation_p.G198R|CADM2_ENST00000405615.2_Missense_Mutation_p.G200R NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 198 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GAGTGATGATGGAGTGGCGGT 0.453000 15 29 0 0 0.004990 0 0 OR2M7 391196 broad.mit.edu 37 1 248487408 248487408 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248487408C>T ENST00000317965.2 - 1 491 c.463G>A c.(463-465)Gat>Aat p.D155N NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGATTCCATCTGTAGAGCCC 0.488000 124 180 0 0 0.003610 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 13 0 0 0.004672 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887274 12887274 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:12887274G>A ENST00000535591.1 - 3 778 c.583C>T c.(583-585)Cag>Tag p.Q195* NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 195 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ACGAGCTTCTGAAGATTCCTC 0.512000 173 246 0 0 0.003610 0 0 ZNF414 84330 broad.mit.edu 37 19 8576722 8576722 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:8576722G>A ENST00000393927.4 - 5 766 c.653C>T c.(652-654)cCc>cTc p.P218L ZNF414_ENST00000255616.8_Missense_Mutation_p.P218L NM_001146175.1 NP_001139647.1 Q96IQ9 ZN414_HUMAN zinc finger protein 414 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 CTCCGGCGCGGGCGGCTCTCG 0.751000 8 6 0 0 0.004482 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23049351 23049351 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:23049351C>T ENST00000221132.3 - 10 1327 c.1263G>A c.(1261-1263)cgG>cgA p.R421R NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 421 Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCGAGGCGTTCCGTCCAGTTT 0.512000 29 85 0 0 0.002096 0 0 CACNG4 27092 broad.mit.edu 37 17 65020989 65020989 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:65020989C>T ENST00000262138.3 + 3 320 c.318C>T c.(316-318)gcC>gcT p.A106A NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 106 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) TCGTGCGAGCCTCCAGCGTCT 0.637000 65 78 0 0 0.003610 0 0 HYDIN 54768 broad.mit.edu 37 16 71015453 71015453 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:71015453G>A ENST00000393567.2 - 29 4501 c.4351C>T c.(4351-4353)Caa>Taa p.Q1451* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1451 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACCTGCTCTTGATGTGAACTG 0.408000 50 43 0 0 0.003610 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964217 88964217 + Missense_Mutation SNP C C A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:88964217C>A ENST00000333190.4 + 4 2530 c.1921C>A c.(1921-1923)Ccc>Acc p.P641T NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 641 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAAATTGATTCCCTGCAGTCC 0.428000 HNSCC(36;0.09) 29 13 3.80469e-20 4.51404e-20 0.001786 1 0 CHERP 10523 broad.mit.edu 37 19 16632418 16632418 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:16632418G>A ENST00000546361.2 - 12 2179 c.2028C>T c.(2026-2028)ctC>ctT p.L676L CHERP_ENST00000198939.6_Silent_p.L687L|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 676 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TGGGGGGTGGGAGGCGGATGT 0.652000 20 24 0 0 0.001882 0 0 CEL 1056 broad.mit.edu 37 9 135942234 135942234 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:135942234C>T ENST00000372080.4 + 6 704 c.688C>T c.(688-690)Ccc>Tcc p.P230S CEL_ENST00000351304.7_Missense_Mutation_p.P227S NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 227 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GACCCTCTCCCCCTACAACAA 0.642000 64 18 0 0 0.003610 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999878 46999878 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:46999878A>G ENST00000374314.4 + 1 1953 c.998A>G c.(997-999)cAg>cGg p.Q333R GPRIN2_ENST00000374317.1_Missense_Mutation_p.Q333R O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 333 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CTGTCAGCCCAGGATGCTGGT 0.642000 21 27 0 0 0.001882 0 0 HSPH1 10808 broad.mit.edu 37 13 31722162 31722162 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:31722162C>T ENST00000320027.5 - 10 1656 c.1312G>A c.(1312-1314)Ggg>Agg p.G438R HSPH1_ENST00000445273.2_Missense_Mutation_p.G440R|HSPH1_ENST00000429785.2_Missense_Mutation_p.G257R|HSPH1_ENST00000380405.4_Missense_Mutation_p.G438R|HSPH1_ENST00000380406.5_Missense_Mutation_p.G397R NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 438 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TCAAAAGGCCCCCTTCTCAGA 0.398000 99 131 0 0 0.003610 0 0 CPED1 79974 broad.mit.edu 37 7 120911467 120911467 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:120911467G>A ENST00000310396.5 + 22 3318 c.2851G>A c.(2851-2853)Gga>Aga p.G951R NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GGGGAAGTGTGGATGTCATTT 0.333000 57 34 0 0 0.003610 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21329726 21329726 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:21329726G>A ENST00000256958.2 + 5 472 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 126 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.E126*(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GTATTCTAAAGAAACTAATAT 0.303000 18 38 0 0 0.007413 0 0 RCBTB2 1102 broad.mit.edu 37 13 49086897 49086897 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:49086897A>G ENST00000344532.3 - 7 907 c.484T>C c.(484-486)Tac>Cac p.Y162H RCBTB2_ENST00000544904.1_Missense_Mutation_p.Y138H|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.Y167H|RCBTB2_ENST00000544492.1_Intron NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 162 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) AAAGAATGGTAAGACCCACAG 0.398000 31 47 0 0 0.002836 0 0 PITPNM1 9600 broad.mit.edu 37 11 67267576 67267576 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:67267576G>A ENST00000356404.3 - 6 1182 c.957C>T c.(955-957)tcC>tcT p.S319S PITPNM1_ENST00000534749.1_Silent_p.S319S|PITPNM1_ENST00000436757.2_Silent_p.S319S NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 319 Poly-Ser. brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 CTCCATGTTGGGATGAGTAGG 0.692000 6 51 0 0 0.001984 0 0 TBC1D4 9882 broad.mit.edu 37 13 75863150 75863150 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:75863150C>T ENST00000377636.3 - 20 3929 c.3583G>A c.(3583-3585)Gat>Aat p.D1195N TBC1D4_ENST00000377625.2_Missense_Mutation_p.D1132N|TBC1D4_ENST00000425511.1_Missense_Mutation_p.D359N|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1187N NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1195 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) GTTTCACTATCCTCACAGGAA 0.398000 42 51 0 0 0.002852 0 0 MYO9B 4650 broad.mit.edu 37 19 17305746 17305746 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:17305746G>A ENST00000595618.1 + 22 3662 c.3510G>A c.(3508-3510)aaG>aaA p.K1170K MYO9B_ENST00000594824.1_Silent_p.K1170K|MYO9B_ENST00000397274.2_Silent_p.K1170K NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1170 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AGTCCTGCAAGGAGGAGAGTG 0.562000 17 40 0 0 0.001882 0 0 SRRM1 10250 broad.mit.edu 37 1 24989168 24989168 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:24989168T>C ENST00000323848.9 + 12 1816 c.1501T>C c.(1501-1503)Tcc>Ccc p.S501P SRRM1_ENST00000374389.4_Missense_Mutation_p.S496P|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S499P NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 501 Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CTCCTCCTCCTCCTCAGAAGA 0.458000 16 27 0 0 0.004990 0 0 MUSK 4593 broad.mit.edu 37 9 113547266 113547266 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:113547266G>A ENST00000416899.2 + 10 1658 c.1532G>A c.(1531-1533)cGa>cAa p.R511Q MUSK_ENST00000374438.1_Intron|MUSK_ENST00000189978.5_Missense_Mutation_p.R519Q|MUSK_ENST00000374448.4_Missense_Mutation_p.R519Q O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 519 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.R519Q(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TATTGCTGCCGAAGAAGAAAA 0.358000 27 51 0 0 0.008361 0 0 PTH2R 5746 broad.mit.edu 37 2 209358274 209358274 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:209358274G>A ENST00000272847.2 + 13 1756 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 515 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GGAGACCAAGGAAGATAGTGG 0.522000 26 26 0 0 0.004656 0 0 OR5L2 26338 broad.mit.edu 37 11 55594730 55594730 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:55594730C>T ENST00000378397.1 + 1 36 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TGGCTGAGTTCATTCTCCTTG 0.433000 HNSCC(27;0.073) 74 135 0 0 0.003610 0 0 LAMA3 3909 broad.mit.edu 37 18 21330936 21330936 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:21330936C>T ENST00000313654.9 + 5 980 c.739C>T c.(739-741)Cac>Tac p.H247Y LAMA3_ENST00000399516.3_Missense_Mutation_p.H247Y NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 247 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACTTTCTCTCACACCCTGAG 0.448000 49 43 0 0 0.003610 0 0 UNC13D 201294 broad.mit.edu 37 17 73827385 73827385 + Missense_Mutation SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:73827385T>A ENST00000207549.4 - 26 2871 c.2492A>T c.(2491-2493)gAg>gTg p.E831V UNC13D_ENST00000412096.2_Missense_Mutation_p.E831V NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 831 MHD2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCGGCCGCCTCCACCAGCAC 0.662000 Familial Hemophagocytic Lymphohistiocytosis 10 45 0 0 0.008291 0 0 MC5R 4161 broad.mit.edu 37 18 13826521 13826521 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:13826521C>T ENST00000324750.3 + 1 979 c.757C>T c.(757-759)Ccg>Tcg p.P253S NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 253 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GTGCTGGGCCCCGTTCTTCCT 0.577000 31 121 0 0 0.007291 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748831 43748831 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:43748831G>A ENST00000263801.3 - 12 2212 c.1960C>T c.(1960-1962)Cat>Tat p.H654Y TP53BP1_ENST00000450115.2_Missense_Mutation_p.H659Y|TP53BP1_ENST00000382039.3_Missense_Mutation_p.H659Y|TP53BP1_ENST00000382044.4_Missense_Mutation_p.H659Y NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 654 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TCCTCTGGATGGTGTTCTTTA 0.473000 Other conserved DNA damage response genes 24 92 0 0 0.003954 0 0 ZNF318 24149 broad.mit.edu 37 6 43325409 43325409 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:43325409G>A ENST00000361428.2 - 3 720 c.643C>T c.(643-645)Ccc>Tcc p.P215S ZNF318_ENST00000318149.3_Missense_Mutation_p.P215S NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 215 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CCCAAGAAGGGACTGAGAGGC 0.493000 64 79 0 0 0.003610 0 0 SGCZ 137868 broad.mit.edu 37 8 14412356 14412356 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:14412356C>T ENST00000382080.1 - 2 834 c.119G>A c.(118-120)gGa>gAa p.G40E SGCZ_ENST00000421524.2_Missense_Mutation_p.G27E NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 27 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TCCATAAATTCCCACTGGGTA 0.383000 24 110 0 0 0.004656 0 0 RHOH 399 broad.mit.edu 37 4 40245215 40245215 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:40245215C>T ENST00000381799.4 + 3 933 c.209C>T c.(208-210)cCc>cTc p.P70L RHOH_ENST00000505618.1_Missense_Mutation_p.P70L NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 70 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 AGCATCCGGCCCCTGTCCTAC 0.547000 28 22 0 0 0.008361 0 0 EPHB3 2049 broad.mit.edu 37 3 184299085 184299085 + Missense_Mutation SNP C C T rs143430250 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:184299085C>T ENST00000330394.2 + 15 3229 c.2777C>T c.(2776-2778)aCc>aTc p.T926I EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 926 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GATTACACAACCTTCACGACA 0.562000 49 48 0 0 0.003610 0 0 ELMO1 9844 broad.mit.edu 37 7 37272719 37272719 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:37272719G>A ENST00000310758.4 - 8 1177 c.530C>T c.(529-531)tCg>tTg p.S177L ELMO1_ENST00000448602.1_Missense_Mutation_p.S177L|ELMO1_ENST00000442504.1_Missense_Mutation_p.S177L NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 177 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GAACGCCACCGAAAATGTATC 0.463000 23 49 0 0 0.006320 0 0 DENND3 22898 broad.mit.edu 37 8 142176349 142176349 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:142176349G>A ENST00000519811.1 + 12 1684 c.1614G>A c.(1612-1614)aaG>aaA p.K538K DENND3_ENST00000424248.1_Silent_p.K406K|DENND3_ENST00000262585.2_Silent_p.K458K A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 458 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCTCCCGGAAGTCCTCGCACC 0.542000 43 118 0 0 0.002522 0 0 RPS19 6223 broad.mit.edu 37 19 42373237 42373237 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:42373237C>T ENST00000598742.1 + 4 681 c.309C>T c.(307-309)gtC>gtT p.V103V RPS19_ENST00000593863.1_Silent_p.V103V|RPS19_ENST00000221975.2_Silent_p.V29V NM_001022.3 NP_001013.1 P39019 RS19_HUMAN ribosomal protein S19 103 endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome endometrium(1)|lung(1)|upper_aerodigestive_tract(1) 3 CCCGCCGGGTCCTCCAAGCCC 0.607000 Diamond-Blackfan Anemia 8 29 0 0 0.004482 0 0 ADA 100 broad.mit.edu 37 20 43251473 43251473 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:43251473G>A ENST00000372874.4 - 8 911 c.777C>T c.(775-777)ttC>ttT p.F259F ADA_ENST00000537820.1_Silent_p.F235F|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 259 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) CGCTTACCTCGAAGTGCATGT 0.602000 Adenosine Deaminase Deficiency 72 99 0 0 0.003610 0 0 CSMD3 114788 broad.mit.edu 37 8 113318250 113318250 + Missense_Mutation SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:113318250G>T ENST00000297405.5 - 51 8301 c.8057C>A c.(8056-8058)aCc>aAc p.T2686N CSMD3_ENST00000352409.3_Missense_Mutation_p.T2616N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2582N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T2646N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2686 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACAGCGAGGGGTCTTGTTATG 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 53 40 7.10676e-39 8.48569e-39 0.003610 1 0 GNA15 2769 broad.mit.edu 37 19 3155863 3155863 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:3155863G>A ENST00000262958.3 + 5 915 c.657G>A c.(655-657)tgG>tgA p.W219* NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 219 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GTAAGAAATGGATCCATTGTT 0.597000 16 23 0 0 0.004990 0 0 CHD2 1106 broad.mit.edu 37 15 93567672 93567672 + Nonsense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:93567672C>T ENST00000394196.4 + 39 6292 c.5224C>T c.(5224-5226)Cga>Tga p.R1742* NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1742 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GCAGGATTTCCGACGAATGTC 0.493000 24 29 0 0 0.004656 0 0 FBN3 84467 broad.mit.edu 37 19 8174214 8174214 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:8174214G>A ENST00000600128.1 - 36 4929 c.4515C>T c.(4513-4515)tcC>tcT p.S1505S FBN3_ENST00000601739.1_Silent_p.S1505S|FBN3_ENST00000270509.2_Silent_p.S1505S Q75N90 FBN3_HUMAN fibrillin 3 1505 TB 6. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGGCACTGCAGGAAATGCCAC 0.602000 31 27 0 0 0.002445 0 0 UGT2B4 7363 broad.mit.edu 37 4 70351018 70351018 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:70351018C>T ENST00000305107.6 - 5 1264 c.1218G>A c.(1216-1218)atG>atA p.M406I UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.M270I|UGT2B4_ENST00000512583.1_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 406 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CCTTGGCCTTCATGTGTGCAA 0.448000 87 126 0 0 0.003610 0 0 ROBO2 6092 broad.mit.edu 37 3 77612324 77612324 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:77612324G>A ENST00000461745.1 + 11 2426 c.1526G>A c.(1525-1527)gGa>gAa p.G509E ROBO2_ENST00000332191.8_Missense_Mutation_p.G509E|ROBO2_ENST00000487694.3_Missense_Mutation_p.G525E NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 509 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATAGAGTCTGGAGCAACAATC 0.433000 14 23 0 0 0.001855 0 0 SPAG17 200162 broad.mit.edu 37 1 118570995 118570995 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:118570995G>A ENST00000336338.5 - 26 3697 c.3632C>T c.(3631-3633)cCt>cTt p.P1211L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1211 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTGTAAAACAGGTTCTGGTTC 0.398000 35 67 0 0 0.005524 0 0 BMP15 9210 broad.mit.edu 37 X 50659473 50659473 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:50659473G>A ENST00000252677.3 + 2 1045 c.1045G>A c.(1045-1047)Gac>Aac p.D349N NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 349 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) TCAGTTGGTGGACCAGAGTGT 0.463000 54 5 0 0 0.003610 0 0 CACNA1I 8911 broad.mit.edu 37 22 40064311 40064311 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:40064311C>T ENST00000336649.4 + 27 4137 c.4137C>T c.(4135-4137)ctC>ctT p.L1379L CACNA1I_ENST00000407673.1_Silent_p.L1338L|CACNA1I_ENST00000404898.1_Silent_p.L1338L|CACNA1I_ENST00000400164.3_Silent_p.L1338L|CACNA1I_ENST00000401624.1_Silent_p.L1373L|CACNA1I_ENST00000402142.3_Silent_p.L1373L Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1373 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TGATGTCCCTCTTTGTCCTGG 0.572000 18 25 0 0 0.001882 0 0 PAX4 5078 broad.mit.edu 37 7 127254549 127254549 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:127254549C>T ENST00000341640.2 - 3 604 c.399G>A c.(397-399)cgG>cgA p.R133R PAX4_ENST00000378740.2_Silent_p.R133R|PAX4_ENST00000463946.1_Silent_p.R131R|PAX4_ENST00000338516.3_Silent_p.R141R NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 141 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GTGACCTGAGCCGTGTGCACG 0.542000 4 9 0 0 0.000248 0 0 MAP3K4 4216 broad.mit.edu 37 6 161523006 161523006 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:161523006C>T ENST00000392142.4 + 18 3905 c.3757C>T c.(3757-3759)Ccc>Tcc p.P1253S MAP3K4_ENST00000348824.7_Missense_Mutation_p.P1199S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P1249S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.P1203S NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1253 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TCACTCAAGCCCCACGGAGGA 0.438000 18 7 0 0 0.007413 0 0 AGTR1 185 broad.mit.edu 37 3 148459398 148459398 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:148459398G>A ENST00000542281.1 + 4 1022 c.576G>A c.(574-576)ccG>ccA p.P192P AGTR1_ENST00000474935.1_Silent_p.P192P|AGTR1_ENST00000404754.2_Silent_p.P192P|AGTR1_ENST00000497524.1_Silent_p.P192P|AGTR1_ENST00000475347.1_Silent_p.P192P|AGTR1_ENST00000349243.3_Silent_p.P192P|AGTR1_ENST00000461609.1_Silent_p.P192P|AGTR1_ENST00000402260.1_Silent_p.P192P|AGTR1_ENST00000418473.2_Silent_p.P192P NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 192 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) CAACCCTCCCGATAGGGCTGG 0.393000 29 32 0 0 0.007291 0 0 HECW2 57520 broad.mit.edu 37 2 197189781 197189781 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:197189781G>A ENST00000260983.2 - 6 846 c.664C>T c.(664-666)Ccc>Tcc p.P222S HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 222 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GCACAGGTGGGGAAACTGCTC 0.488000 57 155 0 0 0.003610 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425175 71425175 + Missense_Mutation SNP C C T rs78660817 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:71425175C>T ENST00000373657.1 - 3 3675 c.3073G>A c.(3073-3075)Gga>Aga p.G1025R PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.G1148R Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 1148 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) AGTGTTTCTCCGGAAGGATCC 0.502000 43 6 0 0 0.008740 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008944 88008944 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:88008944T>C ENST00000276127.4 + 3 788 c.529T>C c.(529-531)Tat>Cat p.Y177H CPXCR1_ENST00000373111.1_Missense_Mutation_p.Y177H NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 177 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 AAAGCGAAAATATATAGCATG 0.428000 17 13 0 0 0.006122 0 0 APBB1IP 54518 broad.mit.edu 37 10 26849092 26849092 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:26849092G>A ENST00000376236.4 + 12 1669 c.1214G>A c.(1213-1215)aGa>aAa p.R405K NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 405 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 GATGACACAAGAACCCTTAAC 0.483000 33 58 0 0 0.003755 0 0 INHBE 83729 broad.mit.edu 37 12 57850391 57850391 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57850391C>T ENST00000266646.2 + 2 1029 c.813C>T c.(811-813)taC>taT p.Y271Y INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 271 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 CCGAGGGGTACCAGCTGAATT 0.602000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 72 0 0 0.004656 0 0 IGSF21 84966 broad.mit.edu 37 1 18703426 18703426 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:18703426C>T ENST00000251296.1 + 8 1617 c.1234C>T c.(1234-1236)Cgc>Tgc p.R412C NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 412 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CTCCATGTATCGCTGCACCGC 0.657000 12 22 0 0 0.003163 0 0 FGFBP2 83888 broad.mit.edu 37 4 15964408 15964408 + Silent SNP G G A rs141225215 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:15964408G>A ENST00000259989.6 - 1 451 c.345C>T c.(343-345)tcC>tcT p.S115S FGFBP2_ENST00000509331.1_Intron NM_031950.3 NP_114156.1 Q9BYJ0 FGFP2_HUMAN fibroblast growth factor binding protein 2 115 extracellular space growth factor binding central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 CCCTGCACACGGATGGCCTAA 0.647000 19 54 0 0 0.008871 0 0 OR5M9 390162 broad.mit.edu 37 11 56230507 56230507 + Missense_Mutation SNP C C T rs138157356 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:56230507C>T ENST00000279791.1 - 1 370 c.371G>A c.(370-372)gGc>gAc p.G124D NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) AGGGTTGCAGCCGGCCATGTA 0.493000 29 51 0 0 0.001786 0 0 PCOLCE 5118 broad.mit.edu 37 7 100200132 100200132 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:100200132C>T ENST00000223061.5 + 1 333 c.53C>T c.(52-54)gCc>gTc p.A18V PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 18 multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACTGCCTGCGCCCTGCTGCCT 0.642000 70 38 0 0 0.003610 0 0 GPR116 221395 broad.mit.edu 37 6 46847774 46847774 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:46847774C>T ENST00000283296.7 - 9 1105 c.817G>A c.(817-819)Gaa>Aaa p.E273K GPR116_ENST00000362015.4_Missense_Mutation_p.E273K|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000265417.7_Missense_Mutation_p.E273K NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 273 Ig-like 1.|SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AAATTGCTTTCATCTGGAAAC 0.423000 9 32 0 0 0.006214 0 0 MTRF1 9617 broad.mit.edu 37 13 41797453 41797453 + Missense_Mutation SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:41797453T>A ENST00000379480.4 - 9 1263 c.1163A>T c.(1162-1164)tAt>tTt p.Y388F MTRF1_ENST00000430347.2_Missense_Mutation_p.Y401F|MTRF1_ENST00000379477.1_Missense_Mutation_p.Y388F NM_004294.2 NP_004285.2 O75570 RF1M_HUMAN mitochondrial translational release factor 1 388 regulation of translational termination mitochondrion translation release factor activity, codon specific breast(1)|endometrium(4)|large_intestine(3)|lung(6) 14 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) GGTGAAATTATATGTCCGAAT 0.368000 49 132 0 0 0.003610 0 0 CFHR4 10877 broad.mit.edu 37 1 196871568 196871568 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:196871568C>T ENST00000367416.2 + 2 213 c.76C>T c.(76-78)Cca>Tca p.P26S CFHR4_ENST00000251424.4_Missense_Mutation_p.P27S|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TTGTGATTTTCCAGAAATTCA 0.279000 44 45 0 0 0.003610 0 0 PRMT2 3275 broad.mit.edu 37 21 48064319 48064319 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:48064319C>T ENST00000397637.1 + 4 1200 c.246C>T c.(244-246)aaC>aaT p.N82N PRMT2_ENST00000458387.2_Silent_p.N82N|PRMT2_ENST00000397638.2_Silent_p.N82N|PRMT2_ENST00000291705.6_Silent_p.N82N|PRMT2_ENST00000334494.4_Silent_p.N82N|PRMT2_ENST00000451211.2_Silent_p.N82N|PRMT2_ENST00000440086.1_Silent_p.N82N|PRMT2_ENST00000355680.3_Silent_p.N82N|PRMT2_ENST00000397628.1_Silent_p.N82N P55345 ANM2_HUMAN protein arginine methyltransferase 2 82 SH3. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) TTCCGGCAAACCATGTGGGGA 0.507000 56 21 0 0 0.003610 0 0 NEFM 4741 broad.mit.edu 37 8 24775166 24775166 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:24775166G>A ENST00000221166.5 + 3 2580 c.1798G>A c.(1798-1800)Gag>Aag p.E600K NEFM_ENST00000437366.2_Missense_Mutation_p.E600K|NEFM_ENST00000433454.2_Missense_Mutation_p.E224K|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 600 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TACCAAGGAGGAGCTGGTGGC 0.502000 20 15 0 0 0.001523 0 0 TLL1 7092 broad.mit.edu 37 4 167012280 167012280 + Splice_Site SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:167012280G>A ENST00000061240.2 + 19 3090 c.2442_splice c.e19-1 p.A815_splice TLL1_ENST00000507499.1_Splice_Site_p.A838_splice NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 815 CUB 4. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) tttaaaaaaGGCCTTTAGTGA 0.299000 10 11 0 0 0.001855 0 0 ZNF793 390927 broad.mit.edu 37 19 38028549 38028549 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:38028549G>A ENST00000445217.1 + 4 1024 c.989G>A c.(988-990)cGa>cAa p.R330Q ZNF793_ENST00000587143.1_Missense_Mutation_p.R330Q|ZNF793_ENST00000542455.1_Missense_Mutation_p.R330Q|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron Q6ZN11 ZN793_HUMAN zinc finger protein 793 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R330Q(2) kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATGTACATCGAAAAATGCAC 0.458000 9 16 0 0 0.006214 0 0 PSG9 5678 broad.mit.edu 37 19 43762266 43762266 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:43762266G>A ENST00000244293.7 - 4 1118 c.1052C>T c.(1051-1053)cCc>cTc p.P351L PSG9_ENST00000596730.1_Missense_Mutation_p.P258L|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 0 Ig-like C2-type 3. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) ACACAGGCTGGGAATAAAAAT 0.448000 34 35 0 0 0.002096 0 0 SLC5A10 125206 broad.mit.edu 37 17 18923669 18923669 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:18923669C>T ENST00000317977.6 + 15 2197 c.1626C>T c.(1624-1626)ttC>ttT p.F542F SLC5A10_ENST00000417251.2_Silent_p.F536F|SLC5A10_ENST00000395642.1_Silent_p.F542F|SLC5A10_ENST00000395645.3_Silent_p.F572F|SLC5A10_ENST00000395643.2_Silent_p.F545F|SLC5A10_ENST00000395647.2_Silent_p.F588F A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 572 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 AACACGCCTTCTGGGCCCGTG 0.542000 56 42 0 0 0.003610 0 0 MYO18B 84700 broad.mit.edu 37 22 26422964 26422964 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:26422964G>A ENST00000335473.7 + 43 7274 c.7024G>A c.(7024-7026)Gaa>Aaa p.E2342K MYO18B_ENST00000407587.2_Missense_Mutation_p.E2343K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2342K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2342 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTACTCCCCGAAAAGTCGAA 0.562000 47 57 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9085565 9085565 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9085565T>C ENST00000397910.4 - 1 6453 c.6250A>G c.(6250-6252)Agt>Ggt p.S2084G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2084 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTAGTTGAACTTGGGTTTGAA 0.483000 41 121 0 0 0.002522 0 0 PAFAH1B1 5048 broad.mit.edu 37 17 2585041 2585041 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:2585041C>T ENST00000397195.5 + 11 1629 c.1178C>T c.(1177-1179)cCc>cTc p.P393L PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.P188L NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 393 Interaction with DCX.|Interaction with NDEL1 (By similarity).|Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 AAGACGGCACCCTATGTCGTC 0.463000 4 22 0 0 0.000248 0 0 MYBPC3 4607 broad.mit.edu 37 11 47372982 47372982 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:47372982C>T ENST00000545968.1 - 2 154 c.100G>A c.(100-102)Gag>Aag p.E34K MYBPC3_ENST00000256993.4_Missense_Mutation_p.E34K|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E34K NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 34 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CCTGCCCGCTCTGTCTCGGCC 0.642000 10 11 0 0 0.001855 0 0 ENO3 2027 broad.mit.edu 37 17 4859299 4859299 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:4859299G>A ENST00000323997.6 + 9 1060 c.928G>A c.(928-930)Ggg>Agg p.G310R ENO3_ENST00000518175.1_Missense_Mutation_p.G310R|ENO3_ENST00000519584.1_Missense_Mutation_p.G267R NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 310 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 CTTCCTCTCGGGGGTGAACAT 0.572000 61 40 0 0 0.003610 0 0 UTP14C 9724 broad.mit.edu 37 13 52603485 52603485 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:52603485C>T ENST00000521776.2 + 2 1278 c.545C>T c.(544-546)cCc>cTc p.P182L ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 182 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) GCAAGAACTCCCCTGGAGCAG 0.532000 40 57 0 0 0.006230 0 0 PROKR2 128674 broad.mit.edu 37 20 5283198 5283198 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:5283198C>T ENST00000546004.1 - 3 889 c.643G>A c.(643-645)Gat>Aat p.D215N PROKR2_ENST00000217270.3_Missense_Mutation_p.D215N Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 215 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AGCTGCTGATCCACAGGCCAG 0.517000 HNSCC(71;0.22) 41 53 0 0 0.006230 0 0 RRM1 6240 broad.mit.edu 37 11 4127421 4127421 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:4127421A>G ENST00000300738.5 + 3 458 c.254A>G c.(253-255)aAc>aGc p.N85S RRM1_ENST00000423050.2_Intron NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 85 ATP-cone. deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) GCTGTCTCTAACTTGCACAAA 0.408000 13 14 0 0 0.001855 0 0 NPFFR2 10886 broad.mit.edu 37 4 73003804 73003804 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:73003804G>A ENST00000308744.6 + 3 780 c.682G>A c.(682-684)Gga>Aga p.G228R NPFFR2_ENST00000344413.5_Missense_Mutation_p.G116E|NPFFR2_ENST00000358749.3_Missense_Mutation_p.G126R|NPFFR2_ENST00000395999.1_Missense_Mutation_p.G129R NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 228 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) ATTGGTCCAGGGAATATCTGT 0.398000 25 33 0 0 0.001786 0 0 HGD 3081 broad.mit.edu 37 3 120360465 120360465 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:120360465C>T ENST00000283871.5 - 11 1309 c.850G>A c.(850-852)Gtt>Att p.V284I NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 284 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) GAGTTGATAACCATGAAATTC 0.502000 52 36 0 0 0.003610 0 0 IGHV4-31 28396 broad.mit.edu 37 14 106805449 106805449 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:106805449G>A ENST00000438142.2 - 0 185 TACAGGTGAGGGACAGGGTCT 0.617000 23 149 0 0 0.001786 0 0 TMEM169 92691 broad.mit.edu 37 2 216964891 216964891 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:216964891C>T ENST00000454545.1 + 4 846 c.520C>T c.(520-522)Ctt>Ttt p.L174F TMEM169_ENST00000406027.2_Missense_Mutation_p.L174F|TMEM169_ENST00000295658.4_Missense_Mutation_p.L174F|TMEM169_ENST00000437356.2_Missense_Mutation_p.L174F NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 174 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTTTTCATCCTTTCTTTTGT 0.512000 51 62 0 0 0.003610 0 0 OR8K3 219473 broad.mit.edu 37 11 56086329 56086329 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:56086329C>T ENST00000312711.1 + 1 547 c.547C>T c.(547-549)Cct>Tct p.P183S NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TGACAGTCTCCCTTTGTTACC 0.333000 38 79 0 0 0.004289 0 0 CHRDL1 91851 broad.mit.edu 37 X 109963152 109963152 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:109963152C>T ENST00000218054.4 - 6 645 c.449G>A c.(448-450)gGa>gAa p.G150E CHRDL1_ENST00000444321.2_Missense_Mutation_p.G150E|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000372045.1_Missense_Mutation_p.G144E|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000394797.4_Missense_Mutation_p.G150E|CHRDL1_ENST00000372042.1_Missense_Mutation_p.G151E NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 144 VWFC 2. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 ATACACGTTTCCCTCCTGCCA 0.463000 45 4 0 0 0.002222 0 0 ZC3H4 23211 broad.mit.edu 37 19 47569896 47569896 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:47569896G>A ENST00000253048.5 - 15 3666 c.3629C>T c.(3628-3630)aCc>aTc p.T1210I ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1210 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GTCCGTGGGGGTGCCCCCATC 0.692000 21 9 0 0 0.003954 0 0 FGB 2244 broad.mit.edu 37 4 155487143 155487143 + Missense_Mutation SNP C C T rs2227434 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:155487143C>T ENST00000302068.4 + 2 361 c.298C>T c.(298-300)Cca>Tca p.P100S FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 100 Missing (in New York-1).|P -> S (in dbSNP:rs2227434). platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TCACGCTGACCCAGACCTGGT 0.532000 14 21 0 0 0.002450 0 0 CCDC101 112869 broad.mit.edu 37 16 28592443 28592443 + Missense_Mutation SNP A A T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:28592443A>T ENST00000317058.3 + 2 240 c.53A>T c.(52-54)cAt>cTt p.H18L NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 18 establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 ACAGAGCTCCATCAGCTGATC 0.547000 15 18 0 0 0.006122 0 0 NES 10763 broad.mit.edu 37 1 156641393 156641393 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:156641393G>A ENST00000368223.3 - 4 2719 c.2587C>T c.(2587-2589)Cta>Tta p.L863L NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 863 Tail. QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCTTTTCTAGAGGATTCATT 0.458000 22 122 0 0 0.001882 0 0 DNAH7 56171 broad.mit.edu 37 2 196799425 196799425 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:196799425C>T ENST00000312428.6 - 21 3461 c.3361G>A c.(3361-3363)Gaa>Aaa p.E1121K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1121 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCTCTCCTTCGCTGCTCTTC 0.403000 55 42 0 0 0.003610 0 0 DEFB116 245930 broad.mit.edu 37 20 29891167 29891167 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:29891167C>T ENST00000400549.1 - 2 156 c.157G>A c.(157-159)Gaa>Aaa p.E53K NM_001037731.1 NP_001032820.1 Q30KQ4 DB116_HUMAN defensin, beta 116 53 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ATTTCATATTCTCTGCAGGCG 0.448000 60 186 0 0 0.003610 0 0 ETV1 2115 broad.mit.edu 37 7 13935631 13935631 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:13935631G>A ENST00000343495.5 - 13 1978 c.1240C>T c.(1240-1242)Cca>Tca p.P414S ETV1_ENST00000430479.1_Missense_Mutation_p.P432S|ETV1_ENST00000405192.2_Missense_Mutation_p.P409S|ETV1_ENST00000405358.4_Missense_Mutation_p.P446S|ETV1_ENST00000403685.1_Missense_Mutation_p.P414S|ETV1_ENST00000405218.2_Missense_Mutation_p.P432S|ETV1_ENST00000242066.5_Missense_Mutation_p.P414S|ETV1_ENST00000403527.1_Missense_Mutation_p.P392S|ETV1_ENST00000399357.3_Missense_Mutation_p.P329S|ETV1_ENST00000420159.2_Missense_Mutation_p.P374S P50549 ETV1_HUMAN ets variant 1 432 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 TTCAGCAGTGGACGCTGATTA 0.498000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 25 20 0 0 0.003330 0 0 GRXCR1 389207 broad.mit.edu 37 4 43032542 43032542 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:43032542G>A ENST00000399770.2 + 4 858 c.858G>A c.(856-858)aaG>aaA p.K286K NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 286 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AGCGTTGTAAGAACTGTGCTG 0.378000 56 90 0 0 0.003610 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421200 37421200 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:37421200G>A ENST00000374660.1 + 4 474 c.375G>A c.(373-375)acG>acA p.T125T ANKRD30A_ENST00000361713.1_Silent_p.T125T|ANKRD30A_ENST00000602533.1_Silent_p.T125T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 181 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.T125T(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TATCCATAACGAAAAGAAGTG 0.284000 36 12 0 0 0.002852 0 0 SNHG14 104472715 broad.mit.edu 37 15 25310191 25310191 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:25310191C>T ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA GATGAGTCCTCCAAAAAAAAC 0.483000 21 53 0 0 0.004656 0 0 TENM2 57451 broad.mit.edu 37 5 167551955 167551955 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:167551955G>A ENST00000519204.1 + 10 1864 c.1746G>A c.(1744-1746)agG>agA p.R582R TENM2_ENST00000520394.1_Silent_p.R471R|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Silent_p.R536R|TENM2_ENST00000545108.1_Silent_p.R703R|TENM2_ENST00000518659.1_Silent_p.R703R teneurin transmembrane protein 2 AGCTGGCGAGGGTCCAGTGCC 0.617000 7 13 0 0 0.001984 0 0 ITIH4 3700 broad.mit.edu 37 3 52852126 52852126 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:52852126G>A ENST00000266041.4 - 20 2334 c.2238C>T c.(2236-2238)ctC>ctT p.L746L ITIH4_ENST00000485816.1_Silent_p.L751L|ITIH4_ENST00000406595.1_Silent_p.L716L|ITIH4_ENST00000346281.5_Silent_p.L730L NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 746 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GGTCCACACAGAGCCGCTCCA 0.667000 33 34 0 0 0.004289 0 0 CEACAM5 1048 broad.mit.edu 37 19 42225069 42225069 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:42225069T>C ENST00000221992.6 + 8 2113 c.1999T>C c.(1999-2001)Tcc>Ccc p.S667P CEACAM5_ENST00000405816.1_Missense_Mutation_p.S667P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S666P NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 667 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCGCAATAATTCCATAGTCAA 0.468000 16 48 0 0 0.004990 0 0 ERC2 26059 broad.mit.edu 37 3 55922539 55922539 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:55922539C>T ENST00000288221.6 - 14 2697 c.2442G>A c.(2440-2442)caG>caA p.Q814Q NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 814 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding p.Q814H(2) breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CATCCAGTTCCTGTCTGGTCT 0.517000 48 123 0 0 0.003610 0 0 ELF5 2001 broad.mit.edu 37 11 34533099 34533099 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:34533099G>A ENST00000312319.2 - 1 247 c.18C>T c.(16-18)caC>caT p.H6H ELF5_ENST00000532417.1_Intron|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000257832.2_Intron|ELF5_ENST00000528709.1_5'UTR NM_001243081.1|NM_198381.1 NP_001230010.1|NP_938195.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) 6 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) ACCTGTGGGAGTGAGGCAGAG 0.522000 12 51 0 0 0.001368 0 0 BZRAP1 9256 broad.mit.edu 37 17 56387343 56387343 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:56387343C>T ENST00000355701.3 - 21 4746 c.3876G>A c.(3874-3876)agG>agA p.R1292R BZRAP1_ENST00000343736.4_Silent_p.R1292R|BZRAP1_ENST00000268893.6_Silent_p.R1232R NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1292 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCCATTCTCCCTGATGCTGT 0.612000 30 45 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179647604 179647604 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179647604C>T ENST00000589042.1 - 18 3253 c.3029G>A c.(3028-3030)aGc>aAc p.S1010N TTN_ENST00000360870.5_Missense_Mutation_p.S1010N|TTN_ENST00000591111.1_Missense_Mutation_p.S1010N|TTN_ENST00000460472.2_Missense_Mutation_p.S964N|TTN_ENST00000342175.6_Missense_Mutation_p.S964N|TTN_ENST00000359218.5_Missense_Mutation_p.S964N|TTN_ENST00000342992.6_Missense_Mutation_p.S1010N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1010 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAATCGCCCGCTGTCTTCCGC 0.498000 29 27 0 0 0.008361 0 0 COL5A1 1289 broad.mit.edu 37 9 137707437 137707437 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:137707437C>T ENST00000371817.3 + 51 4444 c.4030C>T c.(4030-4032)Cct>Tct p.P1344S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1344 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.P1344S(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGTGGGTTTTCCTGGAGATCC 0.622000 9 2 0 0 0.008291 0 0 ADAM7 8756 broad.mit.edu 37 8 24342831 24342831 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:24342831C>T ENST00000175238.6 + 10 1000 c.917C>T c.(916-918)cCa>cTa p.P306L ADAM7_ENST00000380789.1_Missense_Mutation_p.P306L|ADAM7_ENST00000520720.1_Missense_Mutation_p.P78L|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 306 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ATTTCTTATCCAGGGGGTATG 0.338000 15 60 0 0 0.001882 0 0 OR11G2 390439 broad.mit.edu 37 14 20665683 20665683 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:20665683C>T ENST00000357366.3 + 1 189 c.189C>T c.(187-189)atC>atT p.I63I NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) AGGGGCAGATCCTCCTCTTTG 0.552000 15 37 0 0 0.002450 0 0 PKD1L1 168507 broad.mit.edu 37 7 47913522 47913522 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:47913522C>T ENST00000289672.2 - 24 3921 c.3871G>A c.(3871-3873)Gga>Aga p.G1291R NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1291 REJ. cell-cell adhesion integral to membrane p.G1291R(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CAGTCATTTCCATGGTAGCGG 0.517000 8 62 0 0 0.004482 0 0 OR2W3 343171 broad.mit.edu 37 1 248059058 248059058 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248059058C>T ENST00000537741.1 + 3 427 c.170C>T c.(169-171)aCc>aTc p.T57I OR2W3_ENST00000360358.3_Missense_Mutation_p.T57I Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CACCTCCACACCCCCATGTAC 0.572000 83 153 0 0 0.003610 0 0 TNR 7143 broad.mit.edu 37 1 175375715 175375715 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:175375715C>T ENST00000367674.1 - 3 844 c.136G>A c.(136-138)Gag>Aag p.E46K TNR_ENST00000263525.2_Missense_Mutation_p.E46K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 46 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCCTCCTCCTCCACTGACTGT 0.527000 98 61 0 0 0.003610 0 0 TLR6 10333 broad.mit.edu 37 4 38829400 38829400 + Missense_Mutation SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:38829400T>A ENST00000436693.2 - 2 1814 c.1695A>T c.(1693-1695)gaA>gaT p.E565D TLR6_ENST00000381950.1_Missense_Mutation_p.E565D NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 565 LRRCT. activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCTATAACTTTCTGGGTAGT 0.428000 70 89 0 0 0.003610 0 0 PRLR 5618 broad.mit.edu 37 5 35084649 35084649 + Missense_Mutation SNP T T G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:35084649T>G ENST00000382002.5 - 5 722 c.296A>C c.(295-297)tAc>tCc p.Y99S PRLR_ENST00000310101.5_Missense_Mutation_p.Y99S|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99S|PRLR_ENST00000231423.3_Missense_Mutation_p.Y99S|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99S|PRLR_ENST00000397391.3_Missense_Mutation_p.Y28S|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99S|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000511486.1_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 99 Fibronectin type-III 1. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CATCATGATGTATGTCCTCCA 0.483000 72 63 0 0 0.003610 0 0 SUPT6H 6830 broad.mit.edu 37 17 27003316 27003316 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:27003316C>T ENST00000314616.6 + 7 1048 c.765C>T c.(763-765)ccC>ccT p.P255P SUPT6H_ENST00000347486.4_Silent_p.P255P NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 255 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GAGTGCGCCCCAAGAAGACCA 0.458000 18 70 0 0 0.007413 0 0 OXA1L 5018 broad.mit.edu 37 14 23235902 23235902 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:23235902C>T ENST00000285848.5 + 1 172 c.172C>T c.(172-174)Ccg>Tcg p.P58S OXA1L_ENST00000604262.1_5'UTR NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding p.P58S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AAGTCCTCTTCCGGGCAAAAT 0.607000 35 96 0 0 0.004878 0 0 LSM10 84967 broad.mit.edu 37 1 36859377 36859377 + Silent SNP G G C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:36859377G>C ENST00000315732.2 - 2 503 c.354C>G c.(352-354)ccC>ccG p.P118P LSM10_ENST00000476041.1_5'UTR NM_032881.1 NP_116270.1 Q969L4 LSM10_HUMAN LSM10, U7 small nuclear RNA associated 118 histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription Cajal body|U7 snRNP histone pre-mRNA DCP binding|protein binding upper_aerodigestive_tract(1)|urinary_tract(1) 2 Myeloproliferative disorder(586;0.0393) AGTTTTTTGGGGGAAATTCCC 0.572000 30 74 0 0 0.002096 0 0 TTC27 55622 broad.mit.edu 37 2 32875264 32875264 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:32875264C>T ENST00000317907.4 + 5 835 c.604C>T c.(604-606)Ctg>Ttg p.L202L NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 202 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 ACGCTCACCTCTGCTTTTTAC 0.398000 27 78 0 0 0.006320 0 0 POU2F3 25833 broad.mit.edu 37 11 120175804 120175804 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:120175804C>T ENST00000260264.4 + 7 550 c.516C>T c.(514-516)ctC>ctT p.L172L POU2F3_ENST00000543440.2_Silent_p.L170L NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 170 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) CCCAGCATCTCCCAGTGCCCA 0.577000 34 14 0 0 0.002836 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808428 18808428 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:18808428C>T ENST00000400664.1 + 1 1005 c.953C>T c.(952-954)tCc>tTc p.S318F NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 318 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GAGGTTCCATCCCCTAGGCCA 0.637000 24 32 0 0 0.002299 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814923 106814923 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:106814923C>T ENST00000407775.2 + 8 2863 c.2613C>T c.(2611-2613)gcC>gcT p.A871A ZFPM2_ENST00000520492.1_Silent_p.A739A|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.A739A|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.A602A|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 871 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACTATCTGGCCCACAAGCAGA 0.507000 9 19 0 0 0.004482 0 0 EIF3F 8665 broad.mit.edu 37 11 8008857 8008857 + Translation_Start_Site SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:8008857G>A ENST00000537635.1 + 1 421 c.3G>A c.(1-3)atG>atA p.M1I EIF3F_ENST00000533626.1_5'UTR O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 0 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGATATTCATGAATGCTGTCA 0.522000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 113 154 0 0 0.003610 0 0 POTEC 388468 broad.mit.edu 37 18 14542924 14542924 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:14542924C>T ENST00000358970.5 - 1 221 c.222G>A c.(220-222)ggG>ggA p.G74G POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 74 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCGTGCCGCTCCCCCTGCAGC 0.567000 16 282 0 0 0.007413 0 0 NUTM1 256646 broad.mit.edu 37 15 34649449 34649449 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:34649449C>T ENST00000537011.1 + 8 3622 c.3240C>T c.(3238-3240)tcC>tcT p.S1080S NUTM1_ENST00000438749.3_Silent_p.S1070S|NUTM1_ENST00000333756.4_Silent_p.S1052S NUT midline carcinoma, family member 1 AGAGAGCATCCCACCTGCTCC 0.567000 10 30 0 0 0.000978 0 0 TRIT1 54802 broad.mit.edu 37 1 40315913 40315913 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:40315913T>C ENST00000316891.5 - 5 595 c.581A>G c.(580-582)gAa>gGa p.E194G TRIT1_ENST00000372818.1_Missense_Mutation_p.E194G|TRIT1_ENST00000441669.2_Missense_Mutation_p.E114G|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_5'UTR NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 194 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GATTCCTGTTTCTTCAAAAAC 0.423000 12 35 0 0 0.004007 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143924 55143924 + Missense_Mutation SNP C C T rs3745073 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:55143924C>T ENST00000491143.2 + 2 1516 c.1484C>T c.(1483-1485)tCg>tTg p.S495L NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 495 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GGGGGCTCCTCGTCCACCTCC 0.557000 7 38 0 0 0.003080 0 0 C12orf56 115749 broad.mit.edu 37 12 64668753 64668753 + Silent SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:64668753T>A ENST00000543942.2 - 11 2138 c.1512A>T c.(1510-1512)ggA>ggT p.G504G C12orf56_ENST00000333722.5_Silent_p.G344G|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 507 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) ATCCGAGATTTCCCTAAAAGA 0.328000 31 59 0 0 0.002445 0 0 OAS1 4938 broad.mit.edu 37 12 113344864 113344864 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:113344864C>T ENST00000452357.2 + 1 210 c.20C>T c.(19-21)aCc>aTc p.T7I OAS1_ENST00000553185.1_Missense_Mutation_p.T7I|OAS1_ENST00000202917.5_Missense_Mutation_p.T7I|OAS1_ENST00000445409.2_Missense_Mutation_p.T7I|OAS1_ENST00000551241.1_Missense_Mutation_p.T7I NM_002534.2 NP_002525.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 7 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 CTCAGAAATACCCCAGCCAAA 0.473000 30 63 0 0 0.003271 0 0 ACVR1C 130399 broad.mit.edu 37 2 158406693 158406693 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:158406693G>A ENST00000243349.7 - 4 1116 c.756C>T c.(754-756)ttC>ttT p.F252F ACVR1C_ENST00000335450.7_Silent_p.F172F|ACVR1C_ENST00000409680.3_Silent_p.F202F|ACVR1C_ENST00000348328.5_Intron NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 252 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CAGCAGCAATGAAACCAAGGA 0.388000 26 45 0 0 0.007291 0 0 MAGI3 260425 broad.mit.edu 37 1 114165440 114165440 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:114165440C>T ENST00000369615.1 + 9 1246 c.1184C>T c.(1183-1185)tCa>tTa p.S395L MAGI3_ENST00000307546.9_Missense_Mutation_p.S395L|MAGI3_ENST00000369617.4_Missense_Mutation_p.S420L|MAGI3_ENST00000369611.4_Missense_Mutation_p.S395L NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 420 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATGGAAAAATCACACTTCACA 0.343000 13 34 0 0 0.004990 0 0 IMPG1 3617 broad.mit.edu 37 6 76712689 76712689 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:76712689G>A ENST00000369950.3 - 12 1426 c.1237C>T c.(1237-1239)Cct>Tct p.P413S IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 413 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCAACAGGAGGAAGTTCTGGA 0.423000 24 31 0 0 0.005443 0 0 FAM194A 131831 broad.mit.edu 37 3 150384765 150384765 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:150384765G>A ENST00000295910.6 - 13 1589 c.1537C>T c.(1537-1539)Caa>Taa p.Q513* FAM194A_ENST00000491361.1_Nonsense_Mutation_p.Q367* NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 513 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTGCCGGCTTGATCTGAATAT 0.368000 62 43 0 0 0.003610 0 0 PAPPA2 60676 broad.mit.edu 37 1 176675538 176675538 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:176675538G>A ENST00000367662.3 + 10 4573 c.3409G>A c.(3409-3411)Gat>Aat p.D1137N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1137 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGAGCGGAGATGGCTGCTC 0.408000 37 17 0 0 0.002522 0 0 EEF2K 29904 broad.mit.edu 37 16 22262007 22262007 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:22262007C>T ENST00000263026.5 + 5 915 c.441C>T c.(439-441)ttC>ttT p.F147F NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 147 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GGGAGTGCTTCCGGACGTAAG 0.587000 26 36 0 0 0.005443 0 0 TTN 7273 broad.mit.edu 37 2 179615421 179615421 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179615421C>T ENST00000360870.5 - 46 11928 c.11706G>A c.(11704-11706)aaG>aaA p.K3902K TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9723 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAAATCATCCTTTTTTATTC 0.328000 26 23 0 0 0.003330 0 0 CSE1L 1434 broad.mit.edu 37 20 47707330 47707330 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:47707330C>T ENST00000262982.2 + 20 2356 c.2233C>T c.(2233-2235)Cac>Tac p.H745Y CSE1L_ENST00000542325.1_Missense_Mutation_p.H528Y|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.H689Y NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 745 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) AGCAAATGACCACCAAGGTTT 0.363000 37 58 0 0 0.004878 0 0 PROM2 150696 broad.mit.edu 37 2 95954256 95954256 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:95954256G>A ENST00000317620.9 + 22 2493 c.2360G>A c.(2359-2361)tGg>tAg p.W787* PROM2_ENST00000317668.4_Nonsense_Mutation_p.W787*|PROM2_ENST00000542147.1_Nonsense_Mutation_p.W738*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.W787* NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 787 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 TGCCTGGCATGGTGCACCTTC 0.592000 19 54 0 0 0.001523 0 0 KIAA1804 84451 broad.mit.edu 37 1 233490664 233490664 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:233490664G>A ENST00000366624.3 + 4 1479 c.1218G>A c.(1216-1218)atG>atA p.M406I MLK4_ENST00000366623.3_Missense_Mutation_p.M406I NM_032435.2 NP_115811.2 GGGCAGTGATGACTGAGATGC 0.388000 61 55 0 0 0.003610 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147295 26147295 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:26147295G>A ENST00000331351.5 + 2 1489 c.1097G>A c.(1096-1098)gGg>gAg p.G366E HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 366 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GACCCCGCCGGGGAAATGGCC 0.493000 48 49 0 0 0.003610 0 0 ZNF106 64397 broad.mit.edu 37 15 42717188 42717188 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:42717188G>A ENST00000263805.4 - 13 5291 c.4965C>T c.(4963-4965)ggC>ggT p.G1655G ZNF106_ENST00000565380.1_Silent_p.G883G|ZNF106_ENST00000565611.1_Silent_p.G840G NM_022473.1 NP_071918.1 zinc finger protein 106 CTGCCCGAGGGCCATGGCATT 0.473000 18 44 0 0 0.001882 0 0 ZMYM4 9202 broad.mit.edu 37 1 35824978 35824978 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:35824978G>A ENST00000314607.6 + 3 618 c.538G>A c.(538-540)Gaa>Aaa p.E180K ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Missense_Mutation_p.E180K NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 180 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTATGAACGTGAAAAACGGTT 0.323000 9 27 0 0 0.006214 0 0 HUS1 3364 broad.mit.edu 37 7 48018031 48018031 + Missense_Mutation SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:48018031T>A ENST00000258774.5 - 3 363 c.340A>T c.(340-342)Acg>Tcg p.T114S HUS1_ENST00000432325.1_Missense_Mutation_p.T93S NM_004507.3 NP_004498.1 O60921 HUS1_HUMAN HUS1 checkpoint homolog (S. pombe) 114 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1) 13 Breast(660;0.00139) ACGGAGACCGTGAGGCAGGGA 0.448000 Direct reversal of damage;Other conserved DNA damage response genes 37 46 0 0 0.003755 0 0 LPHN1 22859 broad.mit.edu 37 19 14274081 14274081 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:14274081G>A ENST00000340736.6 - 6 844 c.547C>T c.(547-549)Cgc>Tgc p.R183C LPHN1_ENST00000361434.3_Missense_Mutation_p.R178C|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000592086.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 183 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTGTCCGTGCGGTAGGGGATC 0.657000 18 32 0 0 0.004990 0 0 VGLL3 389136 broad.mit.edu 37 3 87017746 87017746 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:87017746C>T ENST00000398399.2 - 3 1294 c.931G>A c.(931-933)Gat>Aat p.D311N VGLL3_ENST00000383698.3_Missense_Mutation_p.D311N NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.D311N(1) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TTACCTGTATCGAATCCCACG 0.393000 4 36 0 0 0.000248 0 0 TOX 9760 broad.mit.edu 37 8 59851871 59851871 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:59851871G>A ENST00000361421.1 - 3 621 c.401C>T c.(400-402)tCc>tTc p.S134F NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 134 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CACAGAAATGGAATTAGAAAG 0.473000 35 42 0 0 0.004878 0 0 C3 718 broad.mit.edu 37 19 6697719 6697719 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:6697719C>T ENST00000245907.6 - 20 2619 c.2527G>A c.(2527-2529)Gag>Aag p.E843K NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 843 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCCACCTGCTCGTTTCGAACA 0.587000 24 15 0 0 0.002780 0 0 ZP1 22917 broad.mit.edu 37 11 60637245 60637245 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:60637245C>T ENST00000278853.5 + 3 554 c.554C>T c.(553-555)cCa>cTa p.P185L NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 185 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CCACTGGACCCAGGGCACAGC 0.622000 19 32 0 0 0.006122 0 0 DNAH5 1767 broad.mit.edu 37 5 13824376 13824376 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:13824376C>T ENST00000265104.4 - 39 6615 c.6511G>A c.(6511-6513)Gcc>Acc p.A2171T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2171 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATTGGATTGGCTCTTTTTGCT 0.443000 Kartagener syndrome 18 22 0 0 0.007413 0 0 OR4C11 219429 broad.mit.edu 37 11 55371784 55371784 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:55371784C>T ENST00000302231.4 - 1 90 c.66G>A c.(64-66)caG>caA p.Q22Q NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 ACACTATTTTCTGCCTCAAGG 0.398000 30 2 0 0 0.002096 0 0 ABCC9 10060 broad.mit.edu 37 12 21971126 21971126 + Silent SNP C C T rs140182559 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:21971126C>T ENST00000261200.4 - 30 3728 c.3729G>A c.(3727-3729)tcG>tcA p.S1243S ABCC9_ENST00000345162.2_Silent_p.S1207S|ABCC9_ENST00000261201.4_Silent_p.S1243S NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1243 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATCCAGAATTCGAAGACCCAC 0.408000 75 126 0 0 0.003610 0 0 FYB 2533 broad.mit.edu 37 5 39134964 39134964 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:39134964C>T ENST00000351578.6 - 8 1858 c.1668G>A c.(1666-1668)agG>agA p.R556R FYB_ENST00000515010.1_Silent_p.R556R|FYB_ENST00000540520.1_Silent_p.R566R|FYB_ENST00000512982.1_Silent_p.R556R|FYB_ENST00000505428.1_Silent_p.R556R NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 556 SH3. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CACATGAACCCCTTGCTGTTC 0.433000 10 34 0 0 0.001368 0 0 CFLAR 8837 broad.mit.edu 37 2 202028672 202028672 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:202028672G>A ENST00000309955.2 + 10 1934 c.1419G>A c.(1417-1419)aaG>aaA p.K473K CFLAR_ENST00000341582.6_Silent_p.K438K|CFLAR_ENST00000443227.1_Silent_p.K377K|CFLAR_ENST00000355558.4_3'UTR|CFLAR_ENST00000423241.2_Silent_p.K473K NM_003879.5 NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 473 Interaction with TRAF1 and TRAF2.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 CTCTGAGAAAGAAACTTATCC 0.463000 7 21 0 0 0.003080 0 0 TMEM74 157753 broad.mit.edu 37 8 109796576 109796576 + Missense_Mutation SNP A A C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:109796576A>C ENST00000297459.3 - 2 930 c.752T>G c.(751-753)aTg>aGg p.M251R TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 251 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CATGGACATCATTAACAAGCA 0.542000 14 34 0 0 0.004007 0 0 SMARCC2 6601 broad.mit.edu 37 12 56561897 56561897 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:56561897T>C ENST00000394023.3 - 26 2902 c.2797A>G c.(2797-2799)Aaa>Gaa p.K933E SMARCC2_ENST00000347471.4_Missense_Mutation_p.K933E|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K933E|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K902E NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 902 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGCCGAAGTTTGATCTCCAAC 0.547000 45 51 0 0 0.003214 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788198 140788198 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140788198C>T ENST00000520790.1 + 1 429 c.429C>T c.(427-429)ttC>ttT p.F143F PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGAAATTTTCGAATCTGCAT 0.348000 8 33 0 0 0.006214 0 0 C20orf194 25943 broad.mit.edu 37 20 3277506 3277506 + Splice_Site SNP A A T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:3277506A>T ENST00000252032.9 - 23 2086 c.e23+1 C20orf194_ENST00000453730.2_Splice_Site|C20orf194_ENST00000498079.1_5'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 GCAGCCACTTACAATCTCTTT 0.453000 51 195 0 0 0.003610 0 0 CCDC34 91057 broad.mit.edu 37 11 27362301 27362301 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:27362301C>T ENST00000328697.6 - 5 1522 c.849G>A c.(847-849)gcG>gcA p.A283A CCDC34_ENST00000529615.1_5'UTR NM_030771.1 NP_110398.1 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 283 endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1) 9 GTTTATGTTTCGCATTTTCCA 0.358000 36 59 0 0 0.005524 0 0 DIS3L2 129563 broad.mit.edu 37 2 233201319 233201319 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:233201319C>T ENST00000325385.7 + 21 2913 c.2637C>T c.(2635-2637)ccC>ccT p.P879P DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Silent_p.P879P NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 879 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) ACGGTGAGCCCGAGGACTCAA 0.677000 10 9 0 0 0.000978 0 0 SPAM1 6677 broad.mit.edu 37 7 123599727 123599727 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:123599727G>A ENST00000340011.5 + 5 1591 c.1234G>A c.(1234-1236)Ggt>Agt p.G412S SPAM1_ENST00000439500.1_Missense_Mutation_p.G412S|SPAM1_ENST00000223028.7_Missense_Mutation_p.G412S|SPAM1_ENST00000402183.2_Missense_Mutation_p.G412S|SPAM1_ENST00000460182.1_Missense_Mutation_p.G412S NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 412 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ACTTGAGAAAGGTGGAAAGTT 0.398000 11 58 0 0 0.000978 0 0 EPPK1 83481 broad.mit.edu 37 8 144945250 144945250 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:144945250G>A ENST00000525985.1 - 2 2243 c.2172C>T c.(2170-2172)atC>atT p.I724I P58107 EPIPL_HUMAN epiplakin 1 724 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGCCCGTGGCGATCTGGGCCT 0.662000 29 57 0 0 0.005443 0 0 LPGAT1 9926 broad.mit.edu 37 1 211956832 211956832 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:211956832G>A ENST00000366997.4 - 5 692 c.466C>T c.(466-468)Cgt>Tgt p.R156C LPGAT1_ENST00000366996.1_Missense_Mutation_p.R156C NM_014873.2 NP_055688.1 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 156 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) TGTTGGTCACGATAAGATCTT 0.368000 11 48 0 0 0.001368 0 0 PITPNM3 83394 broad.mit.edu 37 17 6441394 6441394 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:6441394G>A ENST00000262483.8 - 2 118 c.31C>T c.(31-33)Ccc>Tcc p.P11S ACKR6_ENST00000421306.3_Missense_Mutation_p.P11S NM_031220.3 NP_112497.2 CCGCCCGGGGGAGGACCACCT 0.557000 15 14 0 0 0.006122 0 0 TMEM63C 57156 broad.mit.edu 37 14 77718140 77718140 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:77718140C>T ENST00000298351.4 + 22 2191 c.2047C>T c.(2047-2049)Cac>Tac p.H683Y NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 683 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) AGGTTCTCTCCACGCCATCAC 0.567000 26 48 0 0 0.006320 0 0 SPEG 10290 broad.mit.edu 37 2 220354408 220354408 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:220354408G>A ENST00000312358.7 + 36 8800 c.8668G>A c.(8668-8670)Ggg>Agg p.G2890R AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2890 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CACTCCTCAAGGGGTTAAACC 0.617000 50 126 0 0 0.003610 0 0 VSTM4 196740 broad.mit.edu 37 10 50255027 50255027 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:50255027C>T ENST00000332853.3 - 7 861 c.e7+1 NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 CGGTTACTTACCAGCGTGACT 0.438000 93 35 0 0 0.003610 0 0 GAPVD1 26130 broad.mit.edu 37 9 128088795 128088795 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:128088795G>A ENST00000470056.1 + 10 2119 c.1959G>A c.(1957-1959)gaG>gaA p.E653E GAPVD1_ENST00000312123.9_Silent_p.E632E|GAPVD1_ENST00000297933.6_Silent_p.E653E|GAPVD1_ENST00000265956.4_Silent_p.E653E|GAPVD1_ENST00000495955.1_Silent_p.E653E|GAPVD1_ENST00000394104.2_Silent_p.E653E|GAPVD1_ENST00000394083.2_Silent_p.E632E|GAPVD1_ENST00000394105.2_Silent_p.E653E Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 653 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CAGTGAGTGAGACCTGGAGTA 0.398000 40 12 0 0 0.006230 0 0 COL6A3 1293 broad.mit.edu 37 2 238243405 238243405 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:238243405G>A ENST00000295550.4 - 41 9545 c.9093C>T c.(9091-9093)tcC>tcT p.S3031S COL6A3_ENST00000347401.3_Silent_p.S2830S|COL6A3_ENST00000346358.4_Silent_p.S2831S|COL6A3_ENST00000472056.1_Silent_p.S2424S|COL6A3_ENST00000409809.1_Silent_p.S2825S|COL6A3_ENST00000353578.4_Silent_p.S2825S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 3031 Fibronectin type-III.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCAGAACCAGGGACTGATCAT 0.572000 20 34 0 0 0.001882 0 0 CALN1 83698 broad.mit.edu 37 7 71275429 71275429 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:71275429G>A ENST00000395275.2 - 6 938 c.550C>T c.(550-552)Cat>Tat p.H184Y CALN1_ENST00000329008.5_Missense_Mutation_p.H142Y|CALN1_ENST00000395276.2_Missense_Mutation_p.H142Y|CALN1_ENST00000431984.1_Missense_Mutation_p.H142Y|CALN1_ENST00000412588.1_Missense_Mutation_p.H184Y|CALN1_ENST00000405452.2_Missense_Mutation_p.H142Y NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 142 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.H142Y(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CGGAAGGCATGATAGAGAATG 0.448000 66 42 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141734562 141734562 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:141734562G>A ENST00000475668.2 + 16 1934 c.1880G>A c.(1879-1881)gGa>gAa p.G627E MGAM_ENST00000549489.2_Missense_Mutation_p.G627E O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 627 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CATTGGTTAGGAGACAACACT 0.522000 37 12 0 0 0.004878 0 0 NRXN1 9378 broad.mit.edu 37 2 50780137 50780137 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:50780137C>T ENST00000404971.1 - 10 2806 c.1467G>A c.(1465-1467)agG>agA p.R489R NRXN1_ENST00000405472.3_Silent_p.R441R|NRXN1_ENST00000402717.3_Silent_p.R441R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.R449R|NRXN1_ENST00000406859.3_Silent_p.R449R|NRXN1_ENST00000401669.2_Silent_p.R449R NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 449 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATAATTCCAGCCTCACATCAT 0.393000 18 89 0 0 0.001882 0 0 HGD 3081 broad.mit.edu 37 3 120369647 120369647 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:120369647G>A ENST00000283871.5 - 6 867 c.408C>T c.(406-408)ttC>ttT p.F136F NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 136 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TATTGCAGAGGAAAATGTGGA 0.483000 36 92 0 0 0.006230 0 0 FAM86EP 348926 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 4 103 5.9392e-07 6.97265e-07 0.001168 1 0 MARCO 8685 broad.mit.edu 37 2 119739049 119739049 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:119739049G>A ENST00000541757.1 + 10 977 c.597G>A c.(595-597)ggG>ggA p.G199G MARCO_ENST00000327097.4_Silent_p.G277G Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 277 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GAGCCCAGGGGAGTAAAGGTG 0.532000 8 29 0 0 0.003080 0 0 SLC25A37 51312 broad.mit.edu 37 8 23429126 23429126 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:23429126A>G ENST00000519973.1 + 4 973 c.775A>G c.(775-777)Aag>Gag p.K259E NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 259 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) GGACGTCTGTAAGACCCTTCT 0.672000 8 23 0 0 0.003080 0 0 ACP2 53 broad.mit.edu 37 11 47266324 47266324 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:47266324C>T ENST00000256997.3 - 7 850 c.734G>A c.(733-735)gGa>gAa p.G245E ACP2_ENST00000529444.1_Missense_Mutation_p.G182E|ACP2_ENST00000527256.1_Missense_Mutation_p.G213E|ACP2_ENST00000537863.1_Missense_Mutation_p.G58E|ACP2_ENST00000533929.1_Missense_Mutation_p.G217E|ACP2_ENST00000525230.1_5'UTR NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 245 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 CTGGTAGATTCCGAAGAGGAA 0.602000 35 48 0 0 0.005524 0 0 NR4A1 3164 broad.mit.edu 37 12 52450363 52450363 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:52450363C>T ENST00000545748.1 + 5 2249 c.1254C>T c.(1252-1254)ctC>ctT p.L418L NR4A1_ENST00000243050.1_Silent_p.L364L|NR4A1_ENST00000360284.3_Silent_p.L377L|NR4A1_ENST00000550082.1_Silent_p.L377L|NR4A1_ENST00000394824.2_Silent_p.L364L|NR4A1_ENST00000394825.1_Silent_p.L364L P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 364 Ligand-binding (Potential). nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) CTGCCAATCTCCTCACTTCCC 0.627000 58 66 0 0 0.003610 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 8 51 0 0 0.006214 0 0 COL16A1 1307 broad.mit.edu 37 1 32155398 32155398 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:32155398C>T ENST00000373672.3 - 23 2080 c.1564G>A c.(1564-1566)Gga>Aga p.G522R COL16A1_ENST00000271069.6_Missense_Mutation_p.G522R|COL16A1_ENST00000373668.3_Missense_Mutation_p.G522R NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 522 Triple-helical region 8 (COL8) with 1 imperfection. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CCAGGAAGTCCAACAAAGTTC 0.597000 18 89 0 0 0.001882 0 0 HVCN1 84329 broad.mit.edu 37 12 111099079 111099079 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:111099079C>T ENST00000356742.5 - 3 949 c.196G>A c.(196-198)Gaa>Aaa p.E66K HVCN1_ENST00000439744.2_Missense_Mutation_p.E46K|HVCN1_ENST00000242607.8_Missense_Mutation_p.E66K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E66K Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 66 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 GCTCTGCCTTCCTCGCCTGAG 0.607000 33 32 0 0 0.004289 0 0 DYRK2 8445 broad.mit.edu 37 12 68051037 68051037 + Missense_Mutation SNP C C G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:68051037C>G ENST00000344096.3 + 3 763 c.350C>G c.(349-351)aCg>aGg p.T117R DYRK2_ENST00000393555.3_Missense_Mutation_p.T44R NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 117 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) GTGGGCAAAACGGGCTTGCCA 0.537000 14 35 0 0 0.002450 0 0 GTF3C1 2975 broad.mit.edu 37 16 27481622 27481622 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:27481622G>A ENST00000356183.4 - 31 4636 c.4621C>T c.(4621-4623)Cgt>Tgt p.R1541C GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1541C NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1541 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 AAAGAGAAACGATCAGGCTGG 0.522000 74 116 0 0 0.003610 0 0 ZNF677 342926 broad.mit.edu 37 19 53741769 53741769 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:53741769C>T ENST00000333952.4 - 5 376 c.211G>A c.(211-213)Gaa>Aaa p.E71K ZNF677_ENST00000598513.1_Missense_Mutation_p.E71K Q86XU0 ZN677_HUMAN zinc finger protein 677 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TTATTATTTTCCTTTGGTGAT 0.338000 10 43 0 0 0.008291 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49663151 49663151 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:49663151G>A ENST00000249601.4 - 6 982 c.686C>T c.(685-687)tCc>tTc p.S229F ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.S235F|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.S245F|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.S120F|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.S139F NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 229 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTTCAGCAGGGAGGCCACCGT 0.657000 9 14 0 0 0.000978 0 0 C12orf56 115749 broad.mit.edu 37 12 64668754 64668754 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:64668754C>T ENST00000543942.2 - 11 2137 c.1509_splice c.e11-1 p.G504_splice C12orf56_ENST00000333722.5_Splice_Site_p.G344_splice|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 507 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) TCCGAGATTTCCCTAAAAGAC 0.323000 31 57 0 0 0.002445 0 0 ABCA13 154664 broad.mit.edu 37 7 48312681 48312681 + Missense_Mutation SNP A A C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:48312681A>C ENST00000435803.1 + 17 3442 c.3418A>C c.(3418-3420)Aag>Cag p.K1140Q NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1140 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGTGTTCAACAAGTTTATGTC 0.348000 17 80 0 0 0.004990 0 0 OR2T2 401992 broad.mit.edu 37 1 248616302 248616302 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248616302C>T ENST00000342927.3 + 1 226 c.204C>T c.(202-204)tcC>tcT p.S68S NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCAGCTCTCCATCATGGATA 0.512000 56 154 0 0 0.003610 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540838 133540838 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:133540838G>A ENST00000409261.1 - 14 3919 c.3546C>T c.(3544-3546)tcC>tcT p.S1182S NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.S1182S|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1182 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCACAGCCACGGAACTTTTGG 0.488000 19 30 0 0 0.007413 0 0 OR52E4 390081 broad.mit.edu 37 11 5905795 5905795 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:5905795C>T ENST00000316987.2 + 1 295 c.273C>T c.(271-273)ctC>ctT p.L91L NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTTCAACCTCCAAGAGATCA 0.468000 31 123 0 0 0.002445 0 0 BIRC8 112401 broad.mit.edu 37 19 53793072 53793072 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:53793072C>T ENST00000426466.1 - 1 1803 c.556G>A c.(556-558)Gag>Aag p.E186K NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 186 apoptosis zinc ion binding p.E186K(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) CAAAGCTTCTCCTCTTGCAGA 0.433000 21 39 0 0 0.008871 0 0 MBD2 8932 broad.mit.edu 37 18 51729274 51729274 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:51729274G>A ENST00000583046.1 - 3 958 c.901C>T c.(901-903)Cct>Tct p.P301S MBD2_ENST00000398398.2_3'UTR|MBD2_ENST00000256429.3_Intron NM_015832.4 NP_056647.1 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 0 transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) cattatggaggaaaggattgg 0.498000 51 82 0 0 0.003610 0 0 C2CD5 9847 broad.mit.edu 37 12 22659723 22659723 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:22659723G>A ENST00000333957.4 - 10 1324 c.1069C>T c.(1069-1071)Cct>Tct p.P357S C2CD5_ENST00000544930.1_Missense_Mutation_p.P150S|C2CD5_ENST00000536386.1_Missense_Mutation_p.P359S|C2CD5_ENST00000545552.1_Missense_Mutation_p.P348S|C2CD5_ENST00000446597.1_Missense_Mutation_p.P357S|C2CD5_ENST00000542676.1_Missense_Mutation_p.P357S|C2CD5_ENST00000396028.2_Missense_Mutation_p.P348S NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 AATCCAGGAGGAAATGCCGTC 0.368000 27 105 0 0 0.004656 0 0 PRDM15 63977 broad.mit.edu 37 21 43243672 43243672 + Splice_Site SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:43243672A>G ENST00000422911.1 - 15 2034 c.e15+1 PRDM15_ENST00000269844.3_Splice_Site|PRDM15_ENST00000538201.1_Splice_Site|PRDM15_ENST00000447207.2_Splice_Site|PRDM15_ENST00000398548.1_Splice_Site P57071 PRD15_HUMAN PR domain containing 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CGCGATCGACACCTTGAAGTG 0.622000 3 1 0 0 0.004672 0 0 LCT 3938 broad.mit.edu 37 2 136564929 136564929 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:136564929G>A ENST00000264162.2 - 9 3952 c.3942C>T c.(3940-3942)gtC>gtT p.V1314V NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1314 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GAGACCAGGCGACATACCCTC 0.527000 36 36 0 0 0.006230 0 0 CPNE4 131034 broad.mit.edu 37 3 131404763 131404763 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:131404763G>A ENST00000512055.1 - 10 2673 c.547C>T c.(547-549)Cgt>Tgt p.R183C CPNE4_ENST00000512332.1_Missense_Mutation_p.R201C|CPNE4_ENST00000511604.1_Missense_Mutation_p.R183C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R183C|CPNE4_ENST00000502818.1_Missense_Mutation_p.R201C Q96A23 CPNE4_HUMAN copine IV 183 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TCATTCATACGAAAAATTTCC 0.383000 6 21 0 0 0.001168 0 0 LRRK2 120892 broad.mit.edu 37 12 40689422 40689422 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:40689422G>A ENST00000298910.7 + 23 3130 c.3072G>A c.(3070-3072)acG>acA p.T1024T LRRK2_ENST00000343742.2_Silent_p.T1024T NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1024 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATGCACTCACGAGCTTTCCAC 0.343000 17 23 0 0 0.008871 0 0 PLG 5340 broad.mit.edu 37 6 161160199 161160199 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:161160199G>A ENST00000308192.9 + 16 2040 c.1977G>A c.(1975-1977)ttG>ttA p.L659L NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 659 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGCTGTTCTTGGAGCCCACAC 0.493000 50 15 0 0 0.003610 0 0 FBXW10 10517 broad.mit.edu 37 17 18647600 18647600 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:18647600C>T ENST00000308799.4 + 1 262 c.43C>T c.(43-45)Cgt>Tgt p.R15C FBXW10_ENST00000395665.4_Missense_Mutation_p.R15C|FBXW10_ENST00000301938.4_Missense_Mutation_p.R15C|FBXW10_ENST00000395667.1_Missense_Mutation_p.R15C Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 15 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 CCCCTATTTTCGTTGTGAGAA 0.493000 61 98 0 0 0.003610 0 0 MERTK 10461 broad.mit.edu 37 2 112779006 112779006 + Missense_Mutation SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:112779006G>T ENST00000295408.4 + 17 2454 c.2197G>T c.(2197-2199)Gat>Tat p.D733Y MERTK_ENST00000421804.2_Missense_Mutation_p.D733Y|MERTK_ENST00000409780.1_Missense_Mutation_p.D557Y Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 733 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TAGGTTGCGAGATGACATGAC 0.458000 21 54 5.45024e-15 6.4459e-15 0.003330 1 0 TLL1 7092 broad.mit.edu 37 4 167012279 167012279 + Splice_Site SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:167012279G>A ENST00000061240.2 + 19 3089 c.e19-1 TLL1_ENST00000507499.1_Splice_Site NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ttttaaaaaaGGCCTTTAGTG 0.303000 7 11 0 0 0.008291 0 0 C15orf40 123207 broad.mit.edu 37 15 83680267 83680267 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:83680267C>T ENST00000304177.5 - 1 126 c.12G>A c.(10-12)aaG>aaA p.K4K C15orf40_ENST00000451195.3_Silent_p.K31K|C15orf40_ENST00000565712.1_Silent_p.K31K|C15orf40_ENST00000538348.2_Silent_p.K31K|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000513601.2_Silent_p.K31K NM_001160114.1|NM_144597.2 NP_001153586.1|NP_653198.2 Q8WUR7 CO040_HUMAN chromosome 15 open reading frame 40 4 large_intestine(3)|lung(2)|skin(1) 6 TCGCACCAGCCTTCTTAGGCA 0.682000 OREG0023391 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 29 0 0 0.001368 0 0 ZNF420 147923 broad.mit.edu 37 19 37618929 37618929 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:37618929C>T ENST00000337995.3 + 5 1251 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.R346W NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGCCTTTATTCGGGGCTCACT 0.408000 38 31 0 0 0.005524 0 0 ABCC10 89845 broad.mit.edu 37 6 43400499 43400499 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:43400499C>T ENST00000244533.3 + 1 1011 c.652C>T c.(652-654)Cgt>Tgt p.R218C ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.R261C NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 261 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R218C(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTACCTGGCTCGTGTCTTCCA 0.652000 23 26 0 0 0.002780 0 0 PHC1 1911 broad.mit.edu 37 12 9086523 9086523 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9086523C>T ENST00000433083.2 + 8 1966 c.1821C>T c.(1819-1821)gtC>gtT p.V607V PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000543824.1_Silent_p.V652V|PHC1_ENST00000544916.1_Silent_p.V652V|PHC1_ENST00000536844.1_Silent_p.V258V P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 652 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 GAGATGATGTCTCCACATTGG 0.468000 26 27 0 0 0.004656 0 0 SRGAP3 9901 broad.mit.edu 37 3 9036073 9036073 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:9036073C>T ENST00000383836.3 - 19 2789 c.2362G>A c.(2362-2364)Ggc>Agc p.G788S SRGAP3_ENST00000360413.3_Missense_Mutation_p.G764S NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 788 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCATCCACGCCGTTGTGCCGG 0.572000 T RAF1 pilocytic astrocytoma 28 58 0 0 0.006320 0 0 KIN 22944 broad.mit.edu 37 10 7811239 7811239 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:7811239C>T ENST00000379562.3 - 8 785 c.738G>A c.(736-738)caG>caA p.Q246Q KIN_ENST00000543003.1_Silent_p.Q140Q|KIN_ENST00000535925.1_Silent_p.Q246Q O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 246 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 GAGTTGAGCTCTGGGAAGATT 0.433000 41 8 0 0 0.006999 0 0 RNF31 55072 broad.mit.edu 37 14 24618730 24618730 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:24618730C>T ENST00000324103.6 + 6 1067 c.747C>T c.(745-747)tcC>tcT p.S249S RNF31_ENST00000382687.3_Silent_p.S98S|RNF31_ENST00000559275.1_Silent_p.S98S NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 249 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GACACCCATCCCGTGCTCATC 0.612000 37 44 0 0 0.004878 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185379 39185379 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:39185379C>T ENST00000273153.5 - 5 1114 c.937G>A c.(937-939)Gag>Aag p.E313K CSRNP1_ENST00000514182.1_Missense_Mutation_p.E313K NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 313 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 GCAGGGGCCTCCAGCTCCCTA 0.602000 8 27 0 0 0.003080 0 0 KCNU1 157855 broad.mit.edu 37 8 36793308 36793308 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:36793308G>A ENST00000399881.3 + 27 3357 c.3320G>A c.(3319-3321)tGg>tAg p.W1107* NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1107 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CAAATAGCATGGAATCAGAGT 0.378000 43 93 0 0 0.003610 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43591154 43591154 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:43591154C>T ENST00000409746.5 - 5 418 c.347G>A c.(346-348)cGa>cAa p.R116Q PSTPIP2_ENST00000589328.1_Missense_Mutation_p.R116Q|PSTPIP2_ENST00000588801.1_5'UTR NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 116 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 AACCTTTTTTCGTTGTAGTTT 0.428000 78 103 0 0 0.003610 0 0 LCN15 389812 broad.mit.edu 37 9 139658369 139658369 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:139658369G>A ENST00000316144.5 - 2 213 c.189C>T c.(187-189)atC>atT p.I63I LCN15_ENST00000482511.1_5'UTR NM_203347.1 NP_976222.1 Q6UWW0 LCN15_HUMAN lipocalin 15 63 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 CTGTGGGCCTGATGGCCCTGG 0.647000 62 53 0 0 0.003610 0 0 IFNA16 3449 broad.mit.edu 37 9 21217032 21217032 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:21217032G>A ENST00000380216.1 - 1 278 c.273C>T c.(271-273)ttC>ttT p.F91F NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 91 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CCTTTGTGCTGAAGAGATTGA 0.478000 65 14 0 0 0.003610 0 0 IL2RA 3559 broad.mit.edu 37 10 6061880 6061880 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:6061880G>A ENST00000379959.3 - 5 781 c.608C>T c.(607-609)cCc>cTc p.P203L IL2RA_ENST00000256876.6_Missense_Mutation_p.P194L|IL2RA_ENST00000379954.1_Missense_Mutation_p.P131L NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 203 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ACGGCCTTCGGGGCTTGCCTG 0.602000 19 41 0 0 0.007413 0 0 CACNA1S 779 broad.mit.edu 37 1 201028335 201028335 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:201028335G>A ENST00000362061.3 - 27 3733 c.3507C>T c.(3505-3507)ctC>ctT p.L1169L CACNA1S_ENST00000367338.3_Silent_p.L1169L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1169 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGAAGGCCATGAGCTTGAGGA 0.577000 31 12 0 0 0.002836 0 0 PCLO 27445 broad.mit.edu 37 7 82784726 82784726 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:82784726G>A ENST00000423517.2 - 2 1568 c.1231C>T c.(1231-1233)Cca>Tca p.P411S PCLO_ENST00000333891.8_Missense_Mutation_p.P411S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 362 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGCTGGGTTGGAGGCTTTGCT 0.582000 92 64 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 20959876 20959876 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:20959876C>T ENST00000261383.3 - 57 11271 c.11272G>A c.(11272-11274)Gaa>Aaa p.E3758K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3758 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCCTCAATTTCCTTACAGTAG 0.532000 17 54 0 0 0.006122 0 0 CAPN15 6650 broad.mit.edu 37 16 597654 597654 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:597654G>A ENST00000219611.2 + 4 1179 c.816G>A c.(814-816)agG>agA p.R272R LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 CCGGCTGCAGGGGAGCCCCCC 0.721000 7 8 0 0 0.003080 0 0 SPTB 6710 broad.mit.edu 37 14 65271708 65271708 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:65271708C>T ENST00000389722.3 - 2 302 c.249G>A c.(247-249)cgG>cgA p.R83R SPTB_ENST00000542895.1_Silent_p.R83R|SPTB_ENST00000389720.3_Silent_p.R83R|SPTB_ENST00000389721.5_Silent_p.R83R|SPTB_ENST00000556626.1_Silent_p.R83R NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 83 Actin-binding.|CH 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGCGCCCATCCCGCAGGTCCT 0.587000 46 22 0 0 0.003610 0 0 USP10 9100 broad.mit.edu 37 16 84806182 84806182 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:84806182C>T ENST00000219473.7 + 12 2147 c.2034C>T c.(2032-2034)ctC>ctT p.L678L USP10_ENST00000570191.1_Silent_p.L682L NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 678 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 TGGAAAAACTCCCTCCTGTCC 0.463000 91 84 0 0 0.003610 0 0 BEND2 139105 broad.mit.edu 37 X 18195771 18195771 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:18195771C>T ENST00000380033.4 - 10 1680 c.1548G>A c.(1546-1548)aaG>aaA p.K516K BEND2_ENST00000380030.3_Silent_p.K425K NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 516 BEN 1. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TCAGGATTTCCTTGGAGAACA 0.423000 202 20 0 0 0.003610 0 0 NUB1 51667 broad.mit.edu 37 7 151052945 151052945 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:151052945C>T ENST00000568733.1 + 6 645 c.579C>T c.(577-579)ttC>ttT p.F193F NUB1_ENST00000566856.1_Silent_p.F169F|NUB1_ENST00000355851.4_Silent_p.F169F|NUB1_ENST00000477666.1_3'UTR|NUB1_ENST00000413040.2_Silent_p.F193F Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 169 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) GGAAAAACTTCCAGTTAGAGG 0.428000 5 24 0 0 0.000602 0 0 FAM193A 8603 broad.mit.edu 37 4 2701659 2701659 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:2701659C>T ENST00000324666.5 + 17 3238 c.2887C>T c.(2887-2889)Cct>Tct p.P963S FAM193A_ENST00000545951.1_Missense_Mutation_p.P963S|FAM193A_ENST00000502458.1_Missense_Mutation_p.P985S|FAM193A_ENST00000505311.1_Missense_Mutation_p.P963S|FAM193A_ENST00000382839.3_Missense_Mutation_p.P963S NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 963 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AGAGTCTGTTCCTAACTCTGG 0.473000 31 54 0 0 0.001786 0 0 AIM1L 55057 broad.mit.edu 37 1 26669298 26669298 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:26669298G>A ENST00000527815.1 - 4 578 c.529C>T c.(529-531)Cca>Tca p.P177S AIM1L_ENST00000308182.5_Missense_Mutation_p.P6S NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 6 Beta/gamma crystallin 'Greek key' 4. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TTTGTCCCTGGGGTTCTGAGT 0.582000 69 109 0 0 0.003610 0 0 ADAM9 8754 broad.mit.edu 37 8 38879213 38879213 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:38879213C>T ENST00000487273.2 + 8 802 c.724C>T c.(724-726)Ctg>Ttg p.L242L NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 242 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) GATGATTCTCCTGGCAAACTA 0.363000 40 20 0 0 0.002222 0 0 WDR76 79968 broad.mit.edu 37 15 44153570 44153570 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:44153570C>T ENST00000263795.6 + 12 1672 c.1602C>T c.(1600-1602)ctC>ctT p.L534L WDR76_ENST00000381246.2_Silent_p.L470L|WDR76_ENST00000478130.1_3'UTR NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 534 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) AGATTCCGCTCCTCACCACCA 0.333000 13 39 0 0 0.001855 0 0 DYSF 8291 broad.mit.edu 37 2 71741043 71741043 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:71741043G>A ENST00000258104.3 + 6 932 c.655G>A c.(655-657)Gat>Aat p.D219N DYSF_ENST00000409744.1_Missense_Mutation_p.D220N|DYSF_ENST00000409762.1_Missense_Mutation_p.D250N|DYSF_ENST00000413539.2_Missense_Mutation_p.D250N|DYSF_ENST00000409651.1_Missense_Mutation_p.D251N|DYSF_ENST00000410020.3_Missense_Mutation_p.D251N|DYSF_ENST00000409582.3_Missense_Mutation_p.D250N|DYSF_ENST00000410041.1_Missense_Mutation_p.D251N|DYSF_ENST00000429174.2_Missense_Mutation_p.D219N|DYSF_ENST00000409366.1_Missense_Mutation_p.D220N|DYSF_ENST00000394120.2_Missense_Mutation_p.D220N NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 219 C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAAACCGCAGGATTTCCAGGT 0.572000 5 24 0 0 0.000602 0 0 TTLL6 284076 broad.mit.edu 37 17 46862366 46862366 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:46862366C>T ENST00000393382.3 - 13 2100 c.1959G>A c.(1957-1959)tcG>tcA p.S653S TTLL6_ENST00000433608.2_Silent_p.S346S NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 605 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GCTCCAACTTCGAGCTGCTGA 0.542000 30 83 0 0 0.001786 0 0 UNC13C 440279 broad.mit.edu 37 15 54542545 54542545 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:54542545C>T ENST00000545554.1 + 7 3351 c.3351C>T c.(3349-3351)ctC>ctT p.L1117L UNC13C_ENST00000260323.11_Silent_p.L1117L|UNC13C_ENST00000537900.1_Silent_p.L1115L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1117 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTGAAGGGCTCCTGTGGGGCA 0.522000 16 43 0 0 0.004007 0 0 FAM19A5 25817 broad.mit.edu 37 22 49103614 49103614 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:49103614C>T ENST00000358295.5 + 3 502 c.327C>T c.(325-327)ggC>ggT p.G109G FAM19A5_ENST00000402357.1_Silent_p.G116G|FAM19A5_ENST00000406880.1_Silent_p.G37G|FAM19A5_ENST00000473898.1_3'UTR NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 116 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) ACCGGTCAGGCTGGACGTGCA 0.592000 69 74 0 0 0.003610 0 0 CILP 8483 broad.mit.edu 37 15 65499223 65499223 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:65499223C>T ENST00000261883.4 - 4 487 c.321G>A c.(319-321)caG>caA p.Q107Q NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 107 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CATGGACCACCTGGCCAGTGC 0.622000 18 12 0 0 0.006122 0 0 SYT4 6860 broad.mit.edu 37 18 40853626 40853626 + Silent SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:40853626T>C ENST00000255224.3 - 2 1136 c.768A>G c.(766-768)gaA>gaG p.E256E SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.E238E NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 256 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 GAATTAGAACTTCCCCAATGA 0.353000 17 25 0 0 0.004990 0 0 XDH 7498 broad.mit.edu 37 2 31621532 31621532 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:31621532C>T ENST00000379416.3 - 5 388 c.340G>A c.(340-342)Ggg>Agg p.G114R NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 114 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTGCAGAACCCGCACTGGGAG 0.552000 34 106 0 0 0.002836 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748832 43748832 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:43748832G>A ENST00000263801.3 - 12 2211 c.1959C>T c.(1957-1959)caC>caT p.H653H TP53BP1_ENST00000450115.2_Silent_p.H658H|TP53BP1_ENST00000382039.3_Silent_p.H658H|TP53BP1_ENST00000382044.4_Silent_p.H658H NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 653 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CCTCTGGATGGTGTTCTTTAA 0.478000 Other conserved DNA damage response genes 25 92 0 0 0.004656 0 0 TNPO3 23534 broad.mit.edu 37 7 128626824 128626824 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:128626824G>A ENST00000393245.1 - 12 2124 c.1751C>T c.(1750-1752)tCc>tTc p.S584F TNPO3_ENST00000265388.5_Missense_Mutation_p.S550F|TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000482320.1_Missense_Mutation_p.S484F|TNPO3_ENST00000471166.1_Missense_Mutation_p.S584F NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 550 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CAACAGGAAGGAATCGAGGGA 0.488000 24 69 0 0 0.004656 0 0 FAT3 120114 broad.mit.edu 37 11 92569774 92569774 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:92569774C>T ENST00000298047.6 + 15 10146 c.10129C>T c.(10129-10131)Cat>Tat p.H3377Y FAT3_ENST00000525166.1_Missense_Mutation_p.H3227Y|FAT3_ENST00000409404.2_Missense_Mutation_p.H3377Y Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3377 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGGACAGATTCATTTTTCCAT 0.413000 TCGA Ovarian(4;0.039) 193 58 0 0 0.003610 0 0 PRKCB 5579 broad.mit.edu 37 16 24226094 24226094 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:24226094C>T ENST00000303531.7 + 17 2131 c.1979C>T c.(1978-1980)tCc>tTc p.S660F PRKCB_ENST00000321728.7_Intron NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 661 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GAAGGATTTTCCTTTGTTAAC 0.428000 36 55 0 0 0.005524 0 0 ANKAR 150709 broad.mit.edu 37 2 190557052 190557052 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:190557052C>T ENST00000520309.1 + 4 1199 c.1111C>T c.(1111-1113)Cac>Tac p.H371Y ANKAR_ENST00000313581.4_Missense_Mutation_p.H371Y|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Missense_Mutation_p.H371Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.H300Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.H135Y NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 371 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CCAGAATTTTCACTACAAAGA 0.318000 16 17 0 0 0.003163 0 0 SKAP2 8935 broad.mit.edu 37 7 26724414 26724414 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:26724414C>T ENST00000345317.2 - 11 1241 c.928G>A c.(928-930)Gga>Aga p.G310R SKAP2_ENST00000539623.1_Missense_Mutation_p.G138R NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 310 SH3. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 GAAAAAGCTCCAGTACAATCC 0.378000 9 36 0 0 0.008291 0 0 PAPL 390928 broad.mit.edu 37 19 39589776 39589776 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:39589776C>T ENST00000331256.5 + 4 773 c.499C>T c.(499-501)Cat>Tat p.H167Y PAPL_ENST00000594229.1_Missense_Mutation_p.H167Y NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 167 extracellular region acid phosphatase activity|metal ion binding CGCCGTTCTCCATGTGGGTGA 0.751000 16 44 0 0 0.007413 0 0 POTEG 404785 broad.mit.edu 37 14 19566060 19566060 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:19566060C>T ENST00000409832.3 + 6 1156 c.1104C>T c.(1102-1104)gtC>gtT p.V368V CTD-2311B13.5_ENST00000548748.1_lincRNA NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 368 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TGCTAAAAGTCTCTTCTGAAA 0.323000 18 93 0 0 0.001882 0 0 BBOX1 8424 broad.mit.edu 37 11 27114841 27114841 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:27114841G>A ENST00000263182.3 + 5 829 c.461G>A c.(460-462)gGa>gAa p.G154E RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.G154E|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000529202.1_Missense_Mutation_p.G154E|BBOX1_ENST00000528583.1_Missense_Mutation_p.G154E|RP11-1L12.3_ENST00000530430.1_RNA NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 154 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) AGACTCACCGGAGCATCTGAC 0.423000 35 43 0 0 0.004878 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170069 20170069 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:20170069C>T ENST00000338912.5 - 0 202 p.G68D(1)|p.G68A(1) GCACACCAATCCCATCCACTC 0.557000 49 41 0 0 0.003610 0 0 ATHL1 80162 broad.mit.edu 37 11 293411 293411 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:293411C>T ENST00000409548.2 + 9 1504 c.1389C>T c.(1387-1389)atC>atT p.I463I ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409479.1_Silent_p.I490I NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 463 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) GTCTTCCCATCCCCAGCCAGT 0.627000 19 33 0 0 0.006122 0 0 CCDC87 55231 broad.mit.edu 37 11 66359618 66359618 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:66359618G>A ENST00000333861.3 - 1 936 c.869C>T c.(868-870)cCt>cTt p.P290L NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 290 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GGGGGCCACAGGATAGCTGGG 0.597000 42 61 0 0 0.003610 0 0 IGLL1 3543 broad.mit.edu 37 22 23917246 23917246 + Nonsense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:23917246C>T ENST00000330377.2 - 2 347 c.230G>A c.(229-231)tGg>tAg p.W77* IGLL1_ENST00000249053.3_Intron NM_020070.3 NP_064455.1 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 77 immune response extracellular region|membrane kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1) 12 GGGGCCAGTCCAGGAGCCGCG 0.632000 9 59 0 0 0.000978 0 0 SLC6A13 6540 broad.mit.edu 37 12 369215 369215 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:369215C>T ENST00000343164.4 - 2 56 c.4G>A c.(4-6)Gat>Aat p.D2N SLC6A13_ENST00000436453.1_Missense_Mutation_p.D2N|SLC6A13_ENST00000445055.2_Missense_Mutation_p.D2N NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 2 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ACCCTGCTATCCATCCCACCT 0.507000 61 68 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9007535 9007535 + Missense_Mutation SNP C C G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9007535C>G ENST00000397910.4 - 43 39636 c.39433G>C c.(39433-39435)Gtt>Ctt p.V13145L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13147 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAAGGTCAACTGTGGAAGTC 0.527000 8 27 0 0 0.003080 0 0 RING1 6015 broad.mit.edu 37 6 33177794 33177794 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:33177794G>A ENST00000374656.4 + 4 550 c.342G>A c.(340-342)cgG>cgA p.R114R RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 114 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 ATCCTAGCCGGGAGGAATACG 0.572000 18 18 0 0 0.004990 0 0 OR52I2 143502 broad.mit.edu 37 11 4608339 4608339 + Silent SNP G G A rs145090174 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:4608339G>A ENST00000312614.4 + 1 319 c.297G>A c.(295-297)gtG>gtA p.V99V NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V99V(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGCTGCTGTGGACATTGTTA 0.483000 55 227 0 0 0.003610 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84558914 84558914 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:84558914C>T ENST00000286744.5 + 11 1350 c.1126C>T c.(1126-1128)Cct>Tct p.P376S ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P376S NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 376 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GAGGGTAGTTCCTGACCATTA 0.408000 46 39 0 0 0.002522 0 0 KDM2B 84678 broad.mit.edu 37 12 121947409 121947409 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:121947409C>T ENST00000377069.4 - 11 1921 c.1515G>A c.(1513-1515)gaG>gaA p.E505E KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000538046.2_Silent_p.E446E|KDM2B_ENST00000536437.1_Silent_p.E419E|KDM2B_ENST00000377071.4_Silent_p.E536E NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 536 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCTCGATGCCCTCGGGGACAC 0.627000 23 40 0 0 0.001882 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880258 42880258 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:42880258C>T ENST00000431473.3 + 5 918 c.789C>T c.(787-789)atC>atT p.I263I NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 263 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 ATCTCCTTATCATGGACGATG 0.512000 141 181 0 0 0.003610 0 0 OPRK1 4986 broad.mit.edu 37 8 54147319 54147319 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:54147319C>T ENST00000265572.3 - 3 907 c.610_splice c.e3+1 p.D204_splice OPRK1_ENST00000520287.1_Splice_Site_p.D204_splice|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Splice_Site_p.D115_splice NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 204 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) CTGCTCTTACCTTCCCTGACT 0.413000 7 48 0 0 0.003080 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44806175 44806175 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:44806175G>A ENST00000309315.4 + 18 2691 c.2568G>A c.(2566-2568)acG>acA p.T856T ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Silent_p.T824T|ZMIZ2_ENST00000441627.1_Silent_p.T856T|ZMIZ2_ENST00000413916.1_Silent_p.T798T|ZMIZ2_ENST00000265346.7_Silent_p.T830T NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 856 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding p.T856T(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TAGGACCTACGGGTGAACTGG 0.662000 42 50 0 0 0.002222 0 0 BTBD9 114781 broad.mit.edu 37 6 38560427 38560427 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:38560427G>A ENST00000481247.1 - 4 890 c.739C>T c.(739-741)Cct>Tct p.P247S BTBD9_ENST00000419706.2_Missense_Mutation_p.P188S|BTBD9_ENST00000403056.1_Missense_Mutation_p.P247S|BTBD9_ENST00000408958.1_Missense_Mutation_p.P179S|BTBD9_ENST00000314100.6_Missense_Mutation_p.P179S NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 247 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 ATGGCATCAGGAGACAGCAGT 0.478000 12 66 0 0 0.001855 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101748841 101748841 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:101748841C>T ENST00000506729.1 - 9 1650 c.1479G>A c.(1477-1479)ggG>ggA p.G493G SLCO6A1_ENST00000379807.3_Silent_p.G493G|SLCO6A1_ENST00000389019.3_Silent_p.G431G|SLCO6A1_ENST00000379810.1_Silent_p.G240G|SLCO6A1_ENST00000513675.1_Silent_p.G240G Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 493 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TTCCCAACTTCCCTGTTCTGT 0.308000 12 14 0 0 0.001855 0 0 CNGA2 1260 broad.mit.edu 37 X 150907032 150907032 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:150907032C>T ENST00000329903.4 + 1 110 c.77C>T c.(76-78)gCc>gTc p.A26V NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 26 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GCCATCAAGGCCAATGGCAAA 0.502000 19 32 0 0 0.007413 0 0 CACNA1S 779 broad.mit.edu 37 1 201054654 201054654 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:201054654G>A ENST00000362061.3 - 8 1286 c.1060C>T c.(1060-1062)Cgg>Tgg p.R354W CACNA1S_ENST00000367338.3_Missense_Mutation_p.R354W NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 354 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGCTTCTCCCGGAGCTTCTGG 0.572000 OREG0014068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 85 0 0 0.000602 0 0 GABRA2 2555 broad.mit.edu 37 4 46252598 46252598 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:46252598C>T ENST00000510861.1 - 10 1256 c.1083G>A c.(1081-1083)atG>atA p.M361I GABRA2_ENST00000540012.1_Missense_Mutation_p.M366I|GABRA2_ENST00000381620.4_Missense_Mutation_p.M361I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M361I|GABRA2_ENST00000514090.1_Missense_Mutation_p.M361I|GABRA2_ENST00000507069.1_Missense_Mutation_p.M421I P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 361 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTTCTGTATCATAACGGAAG 0.398000 68 88 0 0 0.003610 0 0 CSMD3 114788 broad.mit.edu 37 8 113988153 113988153 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:113988153G>A ENST00000297405.5 - 7 1499 c.1255C>T c.(1255-1257)Cca>Tca p.P419S CSMD3_ENST00000352409.3_Missense_Mutation_p.P419S|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.P379S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 419 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTATCTGCTGGATGAGGAGAG 0.468000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 67 0 0 0.007291 0 0 PEX12 5193 broad.mit.edu 37 17 33904921 33904921 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:33904921C>T ENST00000225873.4 - 1 727 c.120G>A c.(118-120)gtG>gtA p.V40V NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 40 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTACCTTGACCACATGCTGAA 0.438000 40 34 0 0 0.003610 0 0 SNRK 54861 broad.mit.edu 37 3 43389431 43389431 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:43389431C>T ENST00000296088.7 + 7 1984 c.1680C>T c.(1678-1680)ttC>ttT p.F560F SNRK_ENST00000437827.1_Silent_p.F354F|SNRK_ENST00000454177.1_Silent_p.F560F|SNRK_ENST00000429705.2_Silent_p.F560F NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 560 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) ATAGCGGGTTCACCTACTCCT 0.637000 30 27 0 0 0.002445 0 0 ZNF165 7718 broad.mit.edu 37 6 28056993 28056993 + Silent SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:28056993T>C ENST00000377325.1 + 4 1759 c.1203T>C c.(1201-1203)ggT>ggC p.G401G NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 401 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GACCCTTTGGTTGCAAAGAAT 0.448000 39 69 0 0 0.007835 0 0 CHURC1 91612 broad.mit.edu 37 14 65381170 65381170 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:65381170C>T ENST00000607599.1 + 1 92 c.38C>T c.(37-39)tCt>tTt p.S13F CHURC1_ENST00000548752.2_Missense_Mutation_p.S13F|CHURC1_ENST00000359118.2_5'UTR|CHURC1_ENST00000549115.1_Missense_Mutation_p.S13F|CHURC1_ENST00000552002.2_5'UTR NM_001204063.1|NM_145165.3 NP_001190992.1|NP_660148.3 churchill domain containing 1 breast(1)|pancreas(1) 2 all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976) GAGGTTTCGTCTTCCCGGAAG 0.602000 31 62 0 0 0.002836 0 0 AGXT 189 broad.mit.edu 37 2 241808383 241808383 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:241808383C>T ENST00000307503.3 + 1 488 c.101C>T c.(100-102)cCt>cTt p.P34L NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 34 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCCAACCTGCCTCCTCGCATC 0.647000 19 40 0 0 0.004656 0 0 TOM1 10043 broad.mit.edu 37 22 35729442 35729442 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:35729442C>T ENST00000411850.1 + 10 1104 c.979C>T c.(979-981)Cct>Tct p.P327S TOM1_ENST00000447733.1_Missense_Mutation_p.P294S|TOM1_ENST00000449058.2_Missense_Mutation_p.P327S|TOM1_ENST00000436462.2_Missense_Mutation_p.P289S|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000425375.1_Missense_Mutation_p.P282S NM_001135732.1 NP_001129204.1 O60784 TOM1_HUMAN target of myb1 (chicken) 327 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 CGACATGGGCCCTGACCCAGC 0.607000 16 35 0 0 0.001523 0 0 CLEC10A 10462 broad.mit.edu 37 17 6982116 6982116 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:6982116C>T ENST00000576617.1 - 2 285 c.16G>A c.(16-18)Gaa>Aaa p.E6K CLEC10A_ENST00000254868.4_Missense_Mutation_p.E6K|CLEC10A_ENST00000571664.1_Missense_Mutation_p.E6K|CLEC10A_ENST00000416562.2_Missense_Mutation_p.E6K Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 6 endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 TGGAAGTTTTCATACGTCCTT 0.498000 52 129 0 0 0.003610 0 0 PROM2 150696 broad.mit.edu 37 2 95942031 95942031 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:95942031C>T ENST00000317620.9 + 4 687 c.554C>T c.(553-555)cCc>cTc p.P185L PROM2_ENST00000463580.1_Intron|PROM2_ENST00000317668.4_Missense_Mutation_p.P185L|PROM2_ENST00000542147.1_Missense_Mutation_p.P185L|PROM2_ENST00000403131.2_Missense_Mutation_p.P185L NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 185 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 CAGATGGGCCCCAGCATCGAG 0.607000 19 61 0 0 0.007413 0 0 STYXL1 51657 broad.mit.edu 37 7 75630321 75630321 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:75630321C>T ENST00000451157.1 - 8 867 c.e8-1 STYXL1_ENST00000340062.5_Splice_Site|STYXL1_ENST00000359697.3_Splice_Site|STYXL1_ENST00000431581.1_Splice_Site|STYXL1_ENST00000360591.3_Splice_Site|STYXL1_ENST00000248600.1_Splice_Site Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 TGGTGAATTTCTGCAAAAAGA 0.557000 26 60 0 0 0.004656 0 0 SSH3 54961 broad.mit.edu 37 11 67072263 67072263 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:67072263C>T ENST00000308127.4 + 3 302 c.124C>T c.(124-126)Cgt>Tgt p.R42C SSH3_ENST00000376757.5_Missense_Mutation_p.R42C|SSH3_ENST00000308298.7_Missense_Mutation_p.R42C|SSH3_ENST00000532181.1_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 42 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TGCGGTGCTCCGTGGGGCTGT 0.592000 12 9 0 0 0.000978 0 0 ZBBX 79740 broad.mit.edu 37 3 167031864 167031864 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:167031864C>T ENST00000392766.2 - 16 1655 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K ZBBX_ENST00000307529.5_Missense_Mutation_p.E439K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E439K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E410K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E439K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 439 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ATGCCATTTTCATATGGAAAG 0.289000 25 51 0 0 0.003954 0 0 ZNF211 10520 broad.mit.edu 37 19 58146045 58146045 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:58146045T>C ENST00000544273.1 + 4 502 c.175T>C c.(175-177)Tgg>Cgg p.W59R ZNF211_ENST00000420680.1_Missense_Mutation_p.W51R|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000240731.4_Missense_Mutation_p.W60R|ZNF211_ENST00000299871.5_Missense_Mutation_p.W60R|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000347302.3_Missense_Mutation_p.W47R Q13398 ZN211_HUMAN zinc finger protein 211 47 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTGGGAGGAATGGGATCTCCT 0.483000 41 41 0 0 0.008740 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 3 28 0 0 0.000248 0 0 FCGBP 8857 broad.mit.edu 37 19 40424418 40424418 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:40424418C>T ENST00000221347.6 - 4 1792 c.1785G>A c.(1783-1785)ctG>ctA p.L595L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 595 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCTGAGTGCCAGCTGGCAGT 0.632000 12 36 0 0 0.000978 0 0 GRIN1 2902 broad.mit.edu 37 9 140040183 140040183 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:140040183C>T ENST00000371561.3 + 3 1496 c.399C>T c.(397-399)atC>atT p.I133I GRIN1_ENST00000371559.4_Silent_p.I133I|GRIN1_ENST00000371550.4_Silent_p.I133I|GRIN1_ENST00000371560.3_Silent_p.I133I|GRIN1_ENST00000371546.4_Silent_p.I133I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Silent_p.I133I|GRIN1_ENST00000350902.5_Silent_p.I133I|GRIN1_ENST00000371555.4_Silent_p.I133I|GRIN1_ENST00000315048.3_Silent_p.I133I NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 133 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CGCAGAGCATCCACCTGAGCT 0.697000 15 17 0 0 0.007413 0 0 BCL2A1 597 broad.mit.edu 37 15 80253445 80253445 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:80253445G>A ENST00000267953.3 - 2 818 c.492C>T c.(490-492)atC>atT p.I164I BCL2A1_ENST00000335661.6_3'UTR NM_004049.3 NP_004040.1 Q16548 B2LA1_HUMAN BCL2-related protein A1 164 anti-apoptosis|apoptosis cytoplasm protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 12 GCATTTCACAGATCTTTCCTG 0.353000 14 15 0 0 0.002450 0 0 RYR3 6263 broad.mit.edu 37 15 33925182 33925182 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:33925182C>T ENST00000389232.4 + 24 2970 c.2900C>T c.(2899-2901)cCt>cTt p.P967L RYR3_ENST00000415757.3_Missense_Mutation_p.P967L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 967 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAGCCAGCCCCTTTGGATTTG 0.368000 24 70 0 0 0.008361 0 0 XDH 7498 broad.mit.edu 37 2 31560586 31560586 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:31560586A>G ENST00000379416.3 - 35 3920 c.3872T>C c.(3871-3873)gTg>gCg p.V1291A NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1291 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GAGTTCCTTCACGTTATTACC 0.567000 52 36 0 0 0.003610 0 0 PLAG1 5324 broad.mit.edu 37 8 57079149 57079149 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:57079149G>A ENST00000316981.3 - 5 1635 c.1156C>T c.(1156-1158)Cct>Tct p.P386S PLAG1_ENST00000429357.2_Missense_Mutation_p.P386S|PLAG1_ENST00000423799.2_Missense_Mutation_p.P304S NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 386 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CCAATCTGAGGATCCAACCCT 0.483000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 70 48 0 0 0.003610 0 0 FLG 2312 broad.mit.edu 37 1 152275690 152275690 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152275690G>A ENST00000368799.1 - 3 11707 c.11672C>T c.(11671-11673)tCt>tTt p.S3891F FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3891 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTCCCGAGAAGATCCATG 0.547000 Ichthyosis 33 64 0 0 0.002836 0 0 SNTG2 54221 broad.mit.edu 37 2 1243529 1243529 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:1243529G>A ENST00000308624.5 + 11 998 c.869G>A c.(868-870)tGc>tAc p.C290Y SNTG2_ENST00000407292.1_Missense_Mutation_p.C163Y NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 290 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GCGAACAAATGCTGCTCTCCT 0.478000 9 17 0 0 0.008291 0 0 EIF3B 8662 broad.mit.edu 37 7 2418375 2418375 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:2418375C>T ENST00000360876.4 + 16 2262 c.2206C>T c.(2206-2208)Cgt>Tgt p.R736C EIF3B_ENST00000397011.2_Missense_Mutation_p.R736C NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 736 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) ACAGAAGGATCGTTTGAGTCA 0.458000 18 13 0 0 0.006122 0 0 HERC2P4 100289574 broad.mit.edu 37 16 32163504 32163504 + RNA SNP C C A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:32163504C>A ENST00000564145.1 - 0 65 TGATTTTGCCCTTCGGGGTGA 0.532000 17 81 2.08468e-23 2.47597e-23 0.001882 1 0 VEPH1 79674 broad.mit.edu 37 3 157178109 157178109 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:157178109G>A ENST00000362010.2 - 4 697 c.390C>T c.(388-390)atC>atT p.I130I VEPH1_ENST00000468233.1_Silent_p.I130I|VEPH1_ENST00000494677.1_Silent_p.I130I|VEPH1_ENST00000392832.2_Silent_p.I130I|VEPH1_ENST00000543418.1_Silent_p.I130I|VEPH1_ENST00000537559.1_Silent_p.I130I|VEPH1_ENST00000392833.2_Silent_p.I130I NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 130 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTGCAATGGGGATGGCTAATG 0.423000 37 29 0 0 0.003755 0 0 A2M 2 broad.mit.edu 37 12 9265130 9265130 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9265130G>A ENST00000318602.7 - 3 580 c.273C>T c.(271-273)gtC>gtT p.V91V NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 91 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AAGACTTTGGGACCTGAAATA 0.493000 6 36 0 0 0.001984 0 0 EPHA6 285220 broad.mit.edu 37 3 97466295 97466295 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:97466295G>A ENST00000389672.5 + 17 3195 c.3157G>A c.(3157-3159)Gaa>Aaa p.E1053K NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 958 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGAAGTTCCGGAATATCCTTT 0.398000 5 12 0 0 0.000602 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425174 71425174 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:71425174C>T ENST00000373657.1 - 3 3676 c.3074G>A c.(3073-3075)gGa>gAa p.G1025E PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.G1148E Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 1148 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) CAGTGTTTCTCCGGAAGGATC 0.502000 43 5 0 0 0.008740 0 0 APOB 338 broad.mit.edu 37 2 21250882 21250882 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:21250882C>T ENST00000233242.1 - 14 2012 c.1885G>A c.(1885-1887)Gac>Aac p.D629N APOB_ENST00000399256.4_Missense_Mutation_p.D629N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 629 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTCTGAAGTCCATGACAGTT 0.363000 116 321 0 0 0.003610 0 0 BAGE2 85319 broad.mit.edu 37 21 11039402 11039402 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:11039402G>A ENST00000470054.1 - 0 801 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGCCTCATTAGAAATCTGTTT 0.299000 11 112 0 0 0.008291 0 0 PRR4 11272 broad.mit.edu 37 12 10999753 10999753 + Missense_Mutation SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:10999753G>T ENST00000228811.4 - 3 351 c.314C>A c.(313-315)cCc>cAc p.P105H PRR4_ENST00000540107.1_Silent_p.T47T|PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000544994.1_Intron NM_007244.2 NP_009175.2 Q16378 PROL4_HUMAN proline rich 4 (lacrimal) 105 visual perception extracellular space endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 9 AGGAAATCGGGGTAGAGAGAG 0.537000 92 120 2.41567e-30 2.87824e-30 0.003610 1 0 KRT32 3882 broad.mit.edu 37 17 39620632 39620632 + Missense_Mutation SNP G G A rs147094229 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:39620632G>A ENST00000225899.3 - 4 875 c.772C>T c.(772-774)Ccg>Tcg p.P258S NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 258 Linker 12.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) AGGTCCACCGGGGGTGCAGCG 0.577000 15 16 0 0 0.003163 0 0 ERBB4 2066 broad.mit.edu 37 2 212652844 212652844 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:212652844G>A ENST00000342788.4 - 4 772 c.462C>T c.(460-462)ttC>ttT p.F154F ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Silent_p.F154F|ERBB4_ENST00000402597.1_Silent_p.F154F NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 154 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CATAACAAAGGAATTTGTTCT 0.353000 TSP Lung(8;0.080) 19 15 0 0 0.006122 0 0 PDE8B 8622 broad.mit.edu 37 5 76645262 76645262 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:76645262G>A ENST00000264917.5 + 8 940 c.895G>A c.(895-897)Gaa>Aaa p.E299K PDE8B_ENST00000333194.4_Missense_Mutation_p.E299K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E279K|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 299 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCCAGCCTTCGAAAGGATGAT 0.502000 62 161 0 0 0.003610 0 0 PALLD 23022 broad.mit.edu 37 4 169630191 169630191 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:169630191C>T ENST00000335742.7 + 9 1725 c.368C>T c.(367-369)aCc>aTc p.T123I PALLD_ENST00000505667.1_Missense_Mutation_p.T505I|PALLD_ENST00000512127.1_Missense_Mutation_p.T123I|PALLD_ENST00000261509.6_Missense_Mutation_p.T505I Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 505 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAGATTTGCACCCTAGTTATC 0.443000 Pancreatic Cancer, Familial Clustering of 13 91 0 0 0.001855 0 0 OR5D18 219438 broad.mit.edu 37 11 55587294 55587294 + Silent SNP C C T rs145410438 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:55587294C>T ENST00000333976.4 + 1 209 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F63F(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TGTACTTTTTCCTCAGCCAAC 0.418000 80 123 0 0 0.003610 0 0 AGXT 189 broad.mit.edu 37 2 241808385 241808385 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:241808385C>T ENST00000307503.3 + 1 490 c.103C>T c.(103-105)Cct>Tct p.P35S NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 35 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CAACCTGCCTCCTCGCATCAT 0.657000 22 40 0 0 0.007291 0 0 MYO5B 4645 broad.mit.edu 37 18 47480796 47480796 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:47480796C>T ENST00000285039.7 - 13 1854 c.1555G>A c.(1555-1557)Gga>Aga p.G519R NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 519 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGGTCAGTTCCTTTGGGGACC 0.577000 30 38 0 0 0.001786 0 0 SLIT2 9353 broad.mit.edu 37 4 20493457 20493457 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:20493457C>T ENST00000504154.1 + 9 1101 c.849C>T c.(847-849)atC>atT p.I283I SLIT2_ENST00000273739.5_Silent_p.I287I|SLIT2_ENST00000503837.1_Silent_p.I287I|SLIT2_ENST00000503823.1_Silent_p.I283I NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 283 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCAACAATATCGTAGACTGTC 0.433000 52 73 0 0 0.003610 0 0 ZNF48 197407 broad.mit.edu 37 16 30410313 30410313 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:30410313G>A ENST00000320159.2 + 2 2118 c.1742G>A c.(1741-1743)gGt>gAt p.G581D NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 581 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 AAGGGTTTTGGTGACAGTTCT 0.597000 50 71 0 0 0.003610 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350739 134350739 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:134350739C>T ENST00000275230.5 - 2 379 c.224G>A c.(223-225)aGc>aAc p.S75N NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 75 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) CTCATGGCAGCTCAGGGCTAA 0.527000 34 5 0 0 0.002445 0 0 TECRL 253017 broad.mit.edu 37 4 65175549 65175549 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:65175549T>C ENST00000381210.3 - 6 762 c.652A>G c.(652-654)Ata>Gta p.I218V TECRL_ENST00000507440.1_Missense_Mutation_p.I218V|TECRL_ENST00000513125.1_5'UTR NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 218 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors p.I218L(1) endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CTCACCATTATCAAATTTTTC 0.333000 60 55 0 0 0.003610 0 0 SORBS1 10580 broad.mit.edu 37 10 97096831 97096831 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:97096831G>A ENST00000371247.2 - 30 3275 c.3086C>T c.(3085-3087)cCc>cTc p.P1029L SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P983L|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P1029L|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000306402.6_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 1029 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AGACAGGGAGGGACTGGCCCT 0.592000 36 6 0 0 0.005524 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119936747 119936747 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:119936747G>A ENST00000297350.4 - 5 1450 c.1072C>T c.(1072-1074)Ccc>Tcc p.P358S NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 358 Death 2. apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) ACAGTTTTGGGAAAGTGGTAC 0.413000 89 81 0 0 0.003610 0 0 RC3H2 54542 broad.mit.edu 37 9 125617595 125617595 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:125617595G>A ENST00000373670.1 - 14 3283 c.2683C>T c.(2683-2685)Ccc>Tcc p.P895S RC3H2_ENST00000357244.2_Missense_Mutation_p.P895S|RC3H2_ENST00000423239.2_Missense_Mutation_p.P895S Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 895 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TCACTAAAGGGAATTATTGGA 0.433000 17 9 0 0 0.004007 0 0 NXF3 56000 broad.mit.edu 37 X 102339395 102339395 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:102339395G>A ENST00000395065.3 - 3 327 c.226C>T c.(226-228)Cgg>Tgg p.R76W NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 76 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CTGCCTTTCCGATTATAGGGT 0.433000 22 39 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179611959 179611959 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179611959C>T ENST00000360870.5 - 46 15390 c.15168G>A c.(15166-15168)ggG>ggA p.G5056G TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1163 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTAGTGTCTCCCCTGGGGGTG 0.498000 27 46 0 0 0.005443 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 47 25 0 0 0.003610 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401833 139401833 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:139401833G>A ENST00000277541.6 - 22 3642 c.3567C>T c.(3565-3567)tcC>tcT p.S1189S NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1189 EGF-like 31; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCAGGGGTGGGAGAGGCACT 0.687000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 9 0 0 0.001168 0 0 RGS12 6002 broad.mit.edu 37 4 3318942 3318942 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:3318942C>T ENST00000336727.3 + 2 1949 c.1045C>T c.(1045-1047)Cac>Tac p.H349Y RGS12_ENST00000543385.1_Missense_Mutation_p.H349Y|RGS12_ENST00000382788.3_Missense_Mutation_p.H349Y|RGS12_ENST00000344733.5_Missense_Mutation_p.H349Y NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 349 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTTTAATCACAAGATCCA 0.607000 36 101 0 0 0.003271 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12847412 12847412 + Missense_Mutation SNP G G C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:12847412G>C ENST00000379672.5 + 10 1060 c.760G>C c.(760-762)Ggg>Cgg p.G254R ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G254R|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G254R NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 254 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GCCTTCCTTCGGGAAGCCGCT 0.587000 10 14 0 0 0.008291 0 0 PI4KA 5297 broad.mit.edu 37 22 21073016 21073016 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:21073016G>A ENST00000255882.6 - 44 5297 c.5211C>T c.(5209-5211)ttC>ttT p.F1737F PI4KA_ENST00000414196.3_Silent_p.F489F|PI4KA_ENST00000572273.1_Silent_p.F1679F NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1679 Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity). phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCTTGTTAAAGAAATCAAACT 0.512000 38 53 0 0 0.006230 0 0 C6orf222 389384 broad.mit.edu 37 6 36287321 36287321 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:36287321C>T ENST00000437635.2 - 11 1912 c.1735G>A c.(1735-1737)Gta>Ata p.V579I NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 579 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 AGGGTGGCTACCAGCTTGCTG 0.517000 40 53 0 0 0.002222 0 0 NPLOC4 55666 broad.mit.edu 37 17 79539070 79539070 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:79539070G>A ENST00000374747.5 - 13 1455 c.1326C>T c.(1324-1326)ccC>ccT p.P442P NPLOC4_ENST00000539314.1_Silent_p.P281P|NPLOC4_ENST00000331134.6_Silent_p.P442P Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 442 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CCACAGGCAGGGGCCGGGCCA 0.562000 8 23 0 0 0.003080 0 0 NELL1 4745 broad.mit.edu 37 11 21592418 21592418 + Nonsense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:21592418C>T ENST00000298925.5 + 19 2326 c.2173C>T c.(2173-2175)Caa>Taa p.Q725* NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Nonsense_Mutation_p.Q650*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.Q640*|NELL1_ENST00000357134.5_Nonsense_Mutation_p.Q697* Q92832 NELL1_HUMAN NEL-like 1 (chicken) 697 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ATGTTTAGACCAAAATGGTCA 0.473000 67 79 0 0 0.003610 0 0 FAM53C 51307 broad.mit.edu 37 5 137680705 137680705 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:137680705C>T ENST00000239906.5 + 4 756 c.328C>T c.(328-330)Cct>Tct p.P110S FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.P110S|FAM53C_ENST00000513056.1_Intron NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 110 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCCTGTGCCCCCTGCCCCTCC 0.662000 29 50 0 0 0.006320 0 0 SORL1 6653 broad.mit.edu 37 11 121428069 121428069 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:121428069C>T ENST00000260197.7 + 19 2747 c.2618C>T c.(2617-2619)tCt>tTt p.S873F NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 873 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTCAATTCCTCTGTGCTTGAT 0.507000 36 17 0 0 0.006999 0 0 FAM90A1 55138 broad.mit.edu 37 12 8375235 8375235 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:8375235G>A ENST00000538603.1 - 7 1136 c.578C>T c.(577-579)tCc>tTc p.S193F FAM90A1_ENST00000307435.6_Missense_Mutation_p.S193F NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 193 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) ACTTGAGGAGGAGCTCAGACT 0.597000 36 43 0 0 0.006999 0 0 BAI3 577 broad.mit.edu 37 6 70042883 70042883 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:70042883G>A ENST00000370598.1 + 24 3992 c.3171G>A c.(3169-3171)aaG>aaA p.K1057K BAI3_ENST00000546190.1_Silent_p.K21K|BAI3_ENST00000238918.8_Silent_p.K263K NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1057 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TAGATAAAAAGCTCAAACACA 0.383000 13 18 0 0 0.001368 0 0 STAT6 6778 broad.mit.edu 37 12 57502002 57502002 + Silent SNP G G C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57502002G>C ENST00000300134.3 - 2 385 c.60C>G c.(58-60)gtC>gtG p.V20V STAT6_ENST00000543873.2_Silent_p.V20V|STAT6_ENST00000537215.2_Intron|STAT6_ENST00000454075.3_Silent_p.V20V|STAT6_ENST00000556155.1_Silent_p.V20V|STAT6_ENST00000538913.2_Intron NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 20 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GGGGAAAGTCGACATAGAGCC 0.577000 5 20 0 0 0.001984 0 0 BCL2L15 440603 broad.mit.edu 37 1 114424487 114424487 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:114424487G>A ENST00000393316.3 - 3 553 c.382C>T c.(382-384)Cct>Tct p.P128S AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000488450.1_5'UTR|BCL2L15_ENST00000471267.1_Intron NM_001010922.2 NP_001010922.1 Q5TBC7 B2L15_HUMAN BCL2-like 15 128 apoptosis breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1) 9 Lung SC(450;0.184) all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTACTTCAGGAGCAATGTGA 0.512000 15 20 0 0 0.006122 0 0 FAM83B 222584 broad.mit.edu 37 6 54806429 54806429 + Missense_Mutation SNP C C A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:54806429C>A ENST00000306858.7 + 5 2776 c.2660C>A c.(2659-2661)cCa>cAa p.P887Q NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 887 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GCCTCTGCCCCAAGATTTAAC 0.448000 35 33 3.33393e-15 3.94715e-15 0.004878 1 0 GAD1 2571 broad.mit.edu 37 2 171716242 171716242 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:171716242G>A ENST00000358196.3 + 17 2185 c.1635G>A c.(1633-1635)ctG>ctA p.L545L NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 545 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TCAAAGCCCTGATGATGGAGT 0.483000 19 14 0 0 0.008871 0 0 WDR65 149465 broad.mit.edu 37 1 43647397 43647397 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:43647397C>T ENST00000372492.4 + 3 674 c.350C>T c.(349-351)cCa>cTa p.P117L WDR65_ENST00000528956.1_Missense_Mutation_p.P117L NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 117 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCTTTTTCTCCAGACTCCAAA 0.403000 30 67 0 0 0.007291 0 0 CADM2 253559 broad.mit.edu 37 3 85935391 85935391 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:85935391G>A ENST00000383699.3 + 5 1070 c.443G>A c.(442-444)gGt>gAt p.G148D CADM2_ENST00000407528.2_Missense_Mutation_p.G139D|CADM2_ENST00000405615.2_Missense_Mutation_p.G141D NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 139 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GTTATGGAGGGTGACTTGATG 0.383000 10 29 0 0 0.008291 0 0 PNPLA8 50640 broad.mit.edu 37 7 108142951 108142951 + Missense_Mutation SNP C C A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:108142951C>A ENST00000426128.2 - 4 1467 c.1342G>T c.(1342-1344)Gat>Tat p.D448Y PNPLA8_ENST00000388728.5_Missense_Mutation_p.D448Y|PNPLA8_ENST00000453144.1_Missense_Mutation_p.D348Y|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000422087.1_Missense_Mutation_p.D448Y|PNPLA8_ENST00000257694.8_Missense_Mutation_p.D448Y|PNPLA8_ENST00000436062.1_Missense_Mutation_p.D448Y NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 448 Patatin. fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 CCTCCACCATCAATTGAGAGA 0.398000 73 36 9.13743e-30 1.08756e-29 0.003610 1 0 TLR3 7098 broad.mit.edu 37 4 187004681 187004681 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:187004681C>T ENST00000296795.2 + 4 1945 c.1841C>T c.(1840-1842)tCa>tTa p.S614L TLR3_ENST00000504367.1_Missense_Mutation_p.S337L NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 614 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TCTCTAAAGTCATTGAACCTT 0.368000 30 19 0 0 0.002836 0 0 RFX1 5989 broad.mit.edu 37 19 14083763 14083763 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:14083763G>A ENST00000254325.4 - 9 1340 c.1106C>T c.(1105-1107)tCc>tTc p.S369F NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 369 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) AGTGCTGGTGGAGCTGGCGAC 0.746000 3 12 0 0 0.004672 0 0 MDN1 23195 broad.mit.edu 37 6 90424464 90424464 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:90424464G>A ENST00000369393.3 - 46 6982 c.6867C>T c.(6865-6867)ttC>ttT p.F2289F MDN1_ENST00000428876.1_Silent_p.F2289F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2289 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CCATCGAGAGGAAAAGTCTAG 0.428000 13 43 0 0 0.001855 0 0 MYOC 4653 broad.mit.edu 37 1 171605430 171605430 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:171605430C>T ENST00000037502.5 - 3 1209 c.1150G>A c.(1150-1152)Gat>Aat p.D384N NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 384 Olfactomedin-like. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CCTGCTTCATCCACAGCCAAG 0.532000 26 60 0 0 0.003954 0 0 ABCB8 11194 broad.mit.edu 37 7 150732708 150732708 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:150732708C>T ENST00000358849.4 + 6 899 c.806C>T c.(805-807)tCc>tTc p.S269F ABCB8_ENST00000477092.1_Missense_Mutation_p.S269F|ABCB8_ENST00000356058.4_Missense_Mutation_p.S306F|ABCB8_ENST00000498578.1_Missense_Mutation_p.S269F|ABCB8_ENST00000477719.1_Missense_Mutation_p.S269F|ABCB8_ENST00000542328.1_Missense_Mutation_p.S181F|ABCB8_ENST00000297504.6_Missense_Mutation_p.S286F NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 286 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCCTGGTGTCCCTGTCCATG 0.647000 51 26 0 0 0.003610 0 0 FAT1 2195 broad.mit.edu 37 4 187549725 187549725 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:187549725G>A ENST00000441802.2 - 8 4725 c.4516C>T c.(4516-4518)Cgt>Tgt p.R1506C NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1506 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGATCAAGACGAAATTTCTTG 0.463000 HNSCC(5;0.00058) 16 20 0 0 0.003163 0 0 HTR5A 3361 broad.mit.edu 37 7 154875939 154875939 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:154875939G>A ENST00000287907.2 + 2 1392 c.816G>A c.(814-816)ggG>ggA p.G272G HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 272 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AGCCAGAAGGGGACACGTGGC 0.602000 40 16 0 0 0.006230 0 0 CNR1 1268 broad.mit.edu 37 6 88853935 88853935 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:88853935G>A ENST00000537554.1 - 2 4621 c.1059C>T c.(1057-1059)atC>atT p.I353I CNR1_ENST00000369501.2_Silent_p.I353I|CNR1_ENST00000369499.2_Silent_p.I353I|CNR1_ENST00000468898.1_Silent_p.I320I|CNR1_ENST00000535130.1_Silent_p.I353I|CNR1_ENST00000549890.1_Silent_p.I353I|CNR1_ENST00000549716.1_Silent_p.I292I|CNR1_ENST00000428600.2_Silent_p.I353I|CNR1_ENST00000362094.5_3'UTR NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 353 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CCCAGCAGATGATCAACACCA 0.527000 26 111 0 0 0.003330 0 0 TRPC5 7224 broad.mit.edu 37 X 111155741 111155741 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:111155741C>T ENST00000262839.2 - 3 1596 c.678G>A c.(676-678)gaG>gaA p.E226E NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 226 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCTCCTTGAGCTCCCAGCCCA 0.552000 116 20 0 0 0.003610 0 0 HIF3A 64344 broad.mit.edu 37 19 46838214 46838214 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:46838214C>T ENST00000339613.2 + 14 1970 c.1715C>T c.(1714-1716)aCc>aTc p.T572I AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.T559I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T415I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T559I|HIF3A_ENST00000420102.2_Missense_Mutation_p.T577I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T626I|HIF3A_ENST00000377670.4_Missense_Mutation_p.T628I Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 628 ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GACCCCAGCACCCCACTCCTG 0.597000 26 32 0 0 0.005443 0 0 PKDCC 91461 broad.mit.edu 37 2 42284396 42284396 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:42284396G>A ENST00000294964.5 + 6 1438 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K PKDCC_ENST00000480099.1_3'UTR NM_138370.2 NP_612379.2 Q504Y2 PKDCC_HUMAN protein kinase domain containing, cytoplasmic 420 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 CATCCCCCAGGAAGACTACCG 0.557000 63 54 0 0 0.003610 0 0 ARGFX 503582 broad.mit.edu 37 3 121289566 121289566 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:121289566G>A ENST00000334384.3 + 1 16 c.6G>A c.(4-6)agG>agA p.R2R NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) AAACCATGAGGAACAGAATGG 0.473000 27 31 0 0 0.007291 0 0 FAM83B 222584 broad.mit.edu 37 6 54806270 54806270 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:54806270C>T ENST00000306858.7 + 5 2617 c.2501C>T c.(2500-2502)tCc>tTc p.S834F NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 834 Poly-Ser. autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAGCATTCTTCCTCATCGAAT 0.378000 7 31 0 0 0.001984 0 0 ABCA6 23460 broad.mit.edu 37 17 67094154 67094154 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:67094154G>A ENST00000284425.2 - 23 3201 c.3027C>T c.(3025-3027)ctC>ctT p.L1009L ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1009 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ACCCAGTCCAGAGTCCTATGT 0.348000 15 33 0 0 0.004007 0 0 LRP1B 53353 broad.mit.edu 37 2 141777598 141777598 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:141777598C>T ENST00000389484.3 - 12 2834 c.1863G>A c.(1861-1863)agG>agA p.R621R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 621 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAATGGTTTTCCTATGGCCAT 0.418000 TSP Lung(27;0.18) 26 60 0 0 0.008361 0 0 GPR171 29909 broad.mit.edu 37 3 150916724 150916724 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:150916724C>T ENST00000309180.5 - 3 680 c.450G>A c.(448-450)atG>atA p.M150I MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 150 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGGAATCATCATATTTGGCA 0.378000 30 27 0 0 0.002096 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072798 17072798 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:17072798C>T ENST00000359963.3 - 1 902 c.643G>A c.(643-645)Gat>Aat p.D215N NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 215 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGGCAGGAATCCTCCAGTGTC 0.612000 15 86 0 0 0.004990 0 0 DPEP1 1800 broad.mit.edu 37 16 89703949 89703949 + Missense_Mutation SNP C C T rs139832614 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:89703949C>T ENST00000393092.3 + 8 1133 c.842C>T c.(841-843)tCc>tTc p.S281F DPEP1_ENST00000261615.4_Missense_Mutation_p.S281F|DPEP1_ENST00000421184.1_Missense_Mutation_p.S281F NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 281 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) GCCAACCTGTCCCAAGTGGCC 0.577000 28 71 0 0 0.005443 0 0 CRYBB2 1415 broad.mit.edu 37 22 25623851 25623851 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:25623851G>A ENST00000398215.2 + 4 376 c.205G>A c.(205-207)Ggc>Agc p.G69S NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 69 Beta/gamma crystallin 'Greek key' 2. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 CAACTGCAAGGGCGAGCAGTT 0.587000 53 93 0 0 0.003610 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73020361 73020361 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:73020361G>A ENST00000263674.3 + 1 1028 c.678G>A c.(676-678)ggG>ggA p.G226G RP11-800A3.7_ENST00000546324.1_RNA NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 226 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CGCAGGCCGGGGCCCGGGCCT 0.692000 24 38 0 0 0.003954 0 0 IPO8 10526 broad.mit.edu 37 12 30833476 30833476 + Silent SNP G G A rs112676658 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:30833476G>A ENST00000256079.4 - 5 917 c.579C>T c.(577-579)tcC>tcT p.S193S NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 193 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) AATAATAGGAGGAATCAGGAA 0.363000 28 106 0 0 0.001786 0 0 KIF3A 11127 broad.mit.edu 37 5 132056301 132056301 + Splice_Site SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:132056301G>A ENST00000378746.4 - 5 834 c.616_splice c.e5+1 p.R206_splice KIF3A_ENST00000378735.1_Splice_Site_p.R206_splice|KIF3A_ENST00000403231.1_Splice_Site_p.R206_splice|AC004237.1_ENST00000431165.1_RNA NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 206 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding p.R206C(2) endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTATACTTACGATTTTTGTGG 0.363000 9 7 0 0 0.004482 0 0 DDX24 57062 broad.mit.edu 37 14 94526797 94526797 + Silent SNP G G A rs150012797 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:94526797G>A ENST00000330836.5 - 5 1691 c.1560C>T c.(1558-1560)atC>atT p.I520I DDX24_ENST00000555054.1_Silent_p.I477I|DDX24_ENST00000544005.1_Silent_p.I270I NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 520 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TCTTATGAAGGATTCGAGCAG 0.468000 83 24 0 0 0.003610 0 0 TNR 7143 broad.mit.edu 37 1 175375835 175375835 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:175375835C>T ENST00000367674.1 - 3 724 c.16G>A c.(16-18)Gaa>Aaa p.E6K TNR_ENST00000263525.2_Missense_Mutation_p.E6K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 6 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ACCACTGTTTCCCCATCTGCC 0.532000 55 32 0 0 0.003610 0 0 ODC1 4953 broad.mit.edu 37 2 10580980 10580980 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:10580980T>C ENST00000234111.4 - 12 1766 c.1256A>G c.(1255-1257)cAa>cGa p.Q419R ODC1_ENST00000405333.1_Missense_Mutation_p.Q419R NM_002539.1 NP_002530.1 P11926 DCOR_HUMAN ornithine decarboxylase 1 419 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) GTTCTGGAATTGCTGCATGAG 0.498000 29 54 0 0 0.001786 0 0 BCL9L 283149 broad.mit.edu 37 11 118773008 118773008 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:118773008G>A ENST00000334801.3 - 6 2408 c.1444C>T c.(1444-1446)Ccc>Tcc p.P482S BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 482 Necessary for interaction with CTNNB1 (By similarity).|Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TCCAGCGGGGGGCCCCCTAGG 0.647000 48 66 0 0 0.003610 0 0 CDHR3 222256 broad.mit.edu 37 7 105658498 105658498 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:105658498G>A ENST00000542731.1 + 12 1741 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.E457K|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.E545K Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 545 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CACCAACAACGAAGACACAAG 0.493000 8 30 0 0 0.006214 0 0 MKNK1 8569 broad.mit.edu 37 1 47027158 47027158 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:47027158C>T ENST00000371946.4 - 12 1283 c.1120G>A c.(1120-1122)Gtg>Atg p.V374M MKNK1_ENST00000371945.4_Missense_Mutation_p.V333M|MKNK1_ENST00000371944.4_Missense_Mutation_p.V238M|MKNK1_ENST00000341183.5_Missense_Mutation_p.V333M|MKNK1_ENST00000428112.2_Missense_Mutation_p.V333M|MKNK1-AS1_ENST00000602433.1_RNA NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 374 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) ACCCCCTGCACCCATGGGTGC 0.587000 11 19 0 0 0.000978 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763875 14763875 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:14763875G>A ENST00000358984.4 + 7 1191 c.1011G>A c.(1009-1011)agG>agA p.R337R ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.R337R NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 337 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAACACCTAGGAAAATTTTGA 0.418000 3 10 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9086535 9086535 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9086535C>T ENST00000397910.4 - 1 5483 c.5280G>A c.(5278-5280)gtG>gtA p.V1760V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1760 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTATGAATTCCACATCAGGAG 0.498000 16 58 0 0 0.003163 0 0 PDE2A 5138 broad.mit.edu 37 11 72294558 72294558 + Splice_Site SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:72294558G>A ENST00000334456.5 - 20 1897 c.1650_splice c.e20-1 p.S551_splice PDE2A_ENST00000540345.1_Splice_Site_p.S542_splice|PDE2A_ENST00000444035.2_Splice_Site_p.S542_splice|PDE2A_ENST00000376450.3_Splice_Site_p.S295_splice|PDE2A_ENST00000418754.2_Splice_Site_p.S436_splice|PDE2A_ENST00000544570.1_Splice_Site_p.S544_splice NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 551 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GTATAGGAGAGACTAGGGGAA 0.498000 151 217 0 0 0.003610 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8656921 8656921 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:8656921G>A ENST00000270328.4 - 13 1920 c.1654C>T c.(1654-1656)Ccg>Tcg p.P552S ADAMTS10_ENST00000595838.1_Silent_p.G42G|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P552S Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 552 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGAGTCCACGGCCCCCAGGCT 0.682000 23 9 0 0 0.004656 0 0 OR51A4 401666 broad.mit.edu 37 11 4968057 4968057 + Missense_Mutation SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:4968057G>T ENST00000380373.2 - 1 299 c.274C>A c.(274-276)Cct>Act p.P92T MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAATTTCAGGAGCATTGAAC 0.423000 62 70 5.82089e-37 6.94292e-37 0.003610 1 0 VWA3B 200403 broad.mit.edu 37 2 98846523 98846523 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:98846523G>A ENST00000477737.1 + 16 2365 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 721 p.E721K(1) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCATCAAAAGGAAATCTGTTC 0.358000 15 28 0 0 0.004007 0 0 SDHAP1 255812 broad.mit.edu 37 3 195701304 195701304 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:195701304C>T ENST00000427841.1 - 0 1520 NR_003264.2 AGGGCACATGCCTGACCAGAC 0.572000 6 39 0 0 0.001984 0 0 PTPRC 5788 broad.mit.edu 37 1 198678823 198678823 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:198678823G>A ENST00000367376.2 + 11 1206 c.1035G>A c.(1033-1035)atG>atA p.M345I PTPRC_ENST00000348564.6_Missense_Mutation_p.M186I|PTPRC_ENST00000594404.1_Missense_Mutation_p.M184I|PTPRC_ENST00000352140.3_Missense_Mutation_p.M297I|PTPRC_ENST00000442510.2_Missense_Mutation_p.M347I NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 345 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CAGGTAATATGATATTTGATA 0.254000 12 17 0 0 0.000978 0 0 SYT4 6860 broad.mit.edu 37 18 40853629 40853629 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:40853629C>T ENST00000255224.3 - 2 1133 c.765G>A c.(763-765)ggG>ggA p.G255G SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.G237G NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 255 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TTAGAACTTCCCCAATGATAT 0.353000 18 25 0 0 0.004990 0 0 PTPRT 11122 broad.mit.edu 37 20 41306689 41306689 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:41306689C>T ENST00000373198.3 - 7 1205 c.970G>A c.(970-972)Gaa>Aaa p.E324K PTPRT_ENST00000356100.2_Missense_Mutation_p.E324K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E324K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E324K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 324 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TATTCCACTTCCTTCAGGATG 0.567000 19 87 0 0 0.001523 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514357 113514357 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:113514357C>T ENST00000541405.1 - 4 619 c.96G>A c.(94-96)agG>agA p.R32R CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000302450.6_Silent_p.R197R Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 197 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 GATCTGGCTTCCTCTCAGGTT 0.338000 22 26 0 0 0.001523 0 0 COL11A1 1301 broad.mit.edu 37 1 103388915 103388915 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:103388915C>T ENST00000358392.2 - 47 3984 c.3667G>A c.(3667-3669)Gaa>Aaa p.E1223K COL11A1_ENST00000512756.1_Missense_Mutation_p.E1095K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1211K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1172K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1211 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCCCATTTTCACCTTTTTCA 0.343000 4 8 0 0 0.000248 0 0 UBXN10 127733 broad.mit.edu 37 1 20517764 20517764 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:20517764G>A ENST00000375099.3 + 2 794 c.710G>A c.(709-711)cGa>cAa p.R237Q NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 237 UBX. endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 ACCTCCTACCGACACTGCAGC 0.502000 48 50 0 0 0.003214 0 0 SELP 6403 broad.mit.edu 37 1 169578921 169578921 + Missense_Mutation SNP G G A rs3917742 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:169578921G>A ENST00000263686.6 - 8 1191 c.1154C>T c.(1153-1155)tCg>tTg p.S385L SELP_ENST00000367794.2_Missense_Mutation_p.S323L|SELP_ENST00000367793.2_Missense_Mutation_p.S323L|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.S323L|SELP_ENST00000367792.2_Missense_Mutation_p.S323L|SELP_ENST00000367788.2_Missense_Mutation_p.S323L|SELP_ENST00000367786.2_Missense_Mutation_p.S323L NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 385 Sushi 4. S -> L (in dbSNP:rs3917742). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CGGCTCACACGAAATAGCTAA 0.478000 23 14 0 0 0.002780 0 0 PXDC1 221749 broad.mit.edu 37 6 3727860 3727860 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:3727860G>A ENST00000380283.4 - 4 997 c.503C>T c.(502-504)aCc>aTc p.T168I PXDC1_ENST00000477592.2_5'UTR NM_183373.3 NP_899229.2 Q5TGL8 CF145_HUMAN PX domain containing 1 168 cell communication phosphatidylinositol binding TATTGTTTCGGTATTTGCTAA 0.438000 27 42 0 0 0.002096 0 0 WRN 7486 broad.mit.edu 37 8 30969258 30969258 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:30969258T>C ENST00000298139.5 + 19 2465 c.2216T>C c.(2215-2217)gTt>gCt p.V739A NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 739 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TATTTAGAAGTTAGGCGAAAA 0.383000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 16 45 0 0 0.004990 0 0 RTN1 6252 broad.mit.edu 37 14 60212874 60212874 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:60212874C>T ENST00000267484.5 - 2 902 c.567G>A c.(565-567)atG>atA p.M189I NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 189 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CCTCTGCTTTCATCTGGTCCA 0.458000 63 65 0 0 0.003610 0 0 ZNF768 79724 broad.mit.edu 37 16 30535882 30535882 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:30535882C>T ENST00000380412.5 - 2 1754 c.1579G>A c.(1579-1581)Gac>Aac p.D527N ZNF768_ENST00000562803.1_Missense_Mutation_p.D496N NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 527 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CGGATGAGGTCGGAGCTCTGG 0.682000 18 37 0 0 0.008871 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29906672 29906672 + Missense_Mutation SNP C C G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:29906672C>G ENST00000308713.5 - 5 1288 c.761G>C c.(760-762)gGa>gCa p.G254A SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G210A|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G184A NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 254 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AAGGACTTGTCCTTCTCCAAG 0.632000 33 119 0 0 0.002836 0 0 BAGE2 85319 broad.mit.edu 37 21 11039421 11039421 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:11039421C>T ENST00000470054.1 - 0 782 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTCCAATTCGGTATTCACT 0.279000 7 94 0 0 0.001984 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140803070 140803070 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140803070C>T ENST00000398587.2 + 1 2309 c.2276C>T c.(2275-2277)tCt>tTt p.S759F PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGAGGTCTCTCTCATTGCG 0.567000 26 28 0 0 0.006320 0 0 PROM2 150696 broad.mit.edu 37 2 95954257 95954257 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:95954257G>A ENST00000317620.9 + 22 2494 c.2361G>A c.(2359-2361)tgG>tgA p.W787* PROM2_ENST00000317668.4_Nonsense_Mutation_p.W787*|PROM2_ENST00000542147.1_Nonsense_Mutation_p.W738*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.W787* NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 787 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GCCTGGCATGGTGCACCTTCT 0.592000 19 54 0 0 0.001523 0 0 TLK2 11011 broad.mit.edu 37 17 60689781 60689781 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:60689781G>A ENST00000582809.1 + 23 2364 c.1661G>A c.(1660-1662)cGa>cAa p.R554Q TLK2_ENST00000326270.9_Missense_Mutation_p.R725Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R703Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R671Q|TLK2_ENST00000542523.1_Missense_Mutation_p.R671Q Q86UE8 TLK2_HUMAN tousled-like kinase 2 725 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TTGGCCTACCGAAAGGAGGAC 0.537000 44 51 0 0 0.003610 0 0 ZNF560 147741 broad.mit.edu 37 19 9577647 9577647 + Missense_Mutation SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9577647T>A ENST00000301480.4 - 10 2189 c.1976A>T c.(1975-1977)aAt>aTt p.N659I NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TTCACATGCATTACATTTATA 0.388000 41 33 0 0 0.007835 0 0 PHLDA1 22822 broad.mit.edu 37 12 76425374 76425374 + Missense_Mutation SNP G G C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:76425374G>C ENST00000266671.5 - 1 2338 c.148C>G c.(148-150)Ccc>Gcc p.P50A PHLDA1_ENST00000602540.1_5'UTR Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 50 apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) TCACTGAAGGGCACTGGCCGG 0.721000 4 7 0 0 0.000248 0 0 RPE65 6121 broad.mit.edu 37 1 68910336 68910336 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:68910336C>T ENST00000262340.5 - 5 426 c.373G>A c.(373-375)Gga>Aga p.G125R NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 125 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 ACCTCTACTCCTCGAAAGTAA 0.363000 25 26 0 0 0.003330 0 0 SNHG14 104472715 broad.mit.edu 37 15 25230394 25230394 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:25230394C>T ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 CATGGTTTTTCCTATCAGTAC 0.363000 12 11 0 0 0.000978 0 0 DNAH8 1769 broad.mit.edu 37 6 38851743 38851743 + Missense_Mutation SNP A A T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:38851743A>T ENST00000359357.3 + 54 7831 c.7577A>T c.(7576-7578)aAt>aTt p.N2526I DNAH8_ENST00000449981.2_Missense_Mutation_p.N2743I|DNAH8_ENST00000441566.1_Missense_Mutation_p.N2490I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GATGATATTAATATGCCTGTG 0.338000 26 30 0 0 0.004656 0 0 DIS3L2 129563 broad.mit.edu 37 2 233201320 233201320 + Nonsense_Mutation SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:233201320G>T ENST00000325385.7 + 21 2914 c.2638G>T c.(2638-2640)Gag>Tag p.E880* DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Nonsense_Mutation_p.E880* NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 880 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CGGTGAGCCCGAGGACTCAAG 0.677000 10 9 5.16669e-11 6.09767e-11 0.000978 1 0 ZC3H4 23211 broad.mit.edu 37 19 47569895 47569895 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:47569895G>A ENST00000253048.5 - 15 3667 c.3630C>T c.(3628-3630)acC>acT p.T1210T ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 1210 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TGTCCGTGGGGGTGCCCCCAT 0.697000 21 9 0 0 0.003954 0 0 PGAP1 80055 broad.mit.edu 37 2 197708730 197708730 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:197708730G>A ENST00000354764.3 - 25 2521 c.2407C>T c.(2407-2409)Cgt>Tgt p.R803C NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 803 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 GCAGATAAACGAAGATGGTGT 0.353000 13 22 0 0 0.003163 0 0 HRG 3273 broad.mit.edu 37 3 186394992 186394992 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:186394992C>T ENST00000232003.4 + 7 978 c.898C>T c.(898-900)Cct>Tct p.P300S NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 300 Pro-rich. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ACCCCCACCTCCTCCAGATGA 0.532000 47 33 0 0 0.003610 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76389293 76389293 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:76389293C>T ENST00000307431.8 + 4 657 c.272C>T c.(271-273)aCc>aTc p.T91I CNTNAP4_ENST00000476707.1_Missense_Mutation_p.T95I|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.T91I|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.T67I NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 92 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ATGGAGGTCACCGCTGTGGCC 0.483000 13 46 0 0 0.001855 0 0 FSHB 2488 broad.mit.edu 37 11 30255338 30255338 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:30255338G>A ENST00000417547.1 + 3 420 c.381G>A c.(379-381)atG>atA p.M127I FSHB_ENST00000254122.3_Missense_Mutation_p.M127I|FSHB_ENST00000533718.1_Missense_Mutation_p.M127I NM_001018080.1 NP_001018090.1 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide 127 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) TTGGTGAAATGAAAGAATAAA 0.512000 29 25 0 0 0.006320 0 0 NPY5R 4889 broad.mit.edu 37 4 164272439 164272439 + Silent SNP G G A rs144160203 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:164272439G>A ENST00000515560.1 + 4 2536 c.1014G>A c.(1012-1014)gaG>gaA p.E338E NPY5R_ENST00000338566.3_Silent_p.E338E|NPY5R_ENST00000506953.1_Silent_p.E338E Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 338 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) CTTGCTTTGAGATAAAACCTG 0.388000 31 23 0 0 0.007291 0 0 PAPLN 89932 broad.mit.edu 37 14 73731380 73731380 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:73731380G>A ENST00000427855.1 + 22 3173 c.3071G>A c.(3070-3072)gGg>gAg p.G1024E PAPLN_ENST00000381166.3_Missense_Mutation_p.G1024E|PAPLN_ENST00000340738.5_Missense_Mutation_p.G997E|PAPLN_ENST00000555445.1_Missense_Mutation_p.G1008E|PAPLN_ENST00000554301.1_Missense_Mutation_p.G1024E O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 1024 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GGCCAAGCGGGGGCTGCTGGG 0.657000 40 90 0 0 0.008740 0 0 MAP3K4 4216 broad.mit.edu 37 6 161523007 161523007 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:161523007C>T ENST00000392142.4 + 18 3906 c.3758C>T c.(3757-3759)cCc>cTc p.P1253L MAP3K4_ENST00000348824.7_Missense_Mutation_p.P1199L|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P1249L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.P1203L NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1253 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CACTCAAGCCCCACGGAGGAG 0.438000 17 7 0 0 0.006122 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723999 140723999 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140723999C>T ENST00000253812.6 + 1 399 c.399C>T c.(397-399)ttC>ttT p.F133F PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTAATTTCCCAACAGAGG 0.338000 7 30 0 0 0.003080 0 0 DLEC1 9940 broad.mit.edu 37 3 38087107 38087107 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:38087107G>A ENST00000308059.6 + 2 506 c.485G>A c.(484-486)cGg>cAg p.R162Q DLEC1_ENST00000452631.2_Missense_Mutation_p.R162Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.R162Q Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 162 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GCCCAAGCACGGGCTATTGCG 0.527000 28 61 0 0 0.001786 0 0 CSMD3 114788 broad.mit.edu 37 8 113318249 113318249 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:113318249G>A ENST00000297405.5 - 51 8302 c.8058C>T c.(8056-8058)acC>acT p.T2686T CSMD3_ENST00000352409.3_Silent_p.T2616T|CSMD3_ENST00000455883.2_Silent_p.T2582T|CSMD3_ENST00000343508.3_Silent_p.T2646T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2686 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CACAGCGAGGGGTCTTGTTAT 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 54 40 0 0 0.003610 0 0 MGAT4A 11320 broad.mit.edu 37 2 99272887 99272887 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:99272887G>A ENST00000393487.1 - 7 939 c.626C>T c.(625-627)tCa>tTa p.S209L MGAT4A_ENST00000414521.2_Missense_Mutation_p.S81L|MGAT4A_ENST00000264968.2_Missense_Mutation_p.S209L|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000409391.1_Missense_Mutation_p.S209L NM_012214.2 NP_036346.1 Q9UM21 MGT4A_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A 209 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 TTCAGGGGGTGATATGACTTC 0.373000 57 61 0 0 0.003610 0 0 NEB 4703 broad.mit.edu 37 2 152529052 152529052 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:152529052G>A ENST00000397345.3 - 37 4332 c.4130C>T c.(4129-4131)aCc>aTc p.T1377I NEB_ENST00000409198.1_Missense_Mutation_p.T1377I|NEB_ENST00000427231.2_Missense_Mutation_p.T1377I|NEB_ENST00000603639.1_Missense_Mutation_p.T1377I|NEB_ENST00000604864.1_Missense_Mutation_p.T1377I|NEB_ENST00000172853.10_Missense_Mutation_p.T1377I NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1377 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCTGGTTTTGGTGTTCTCATA 0.483000 29 65 0 0 0.006320 0 0 ENOSF1 55556 broad.mit.edu 37 18 683327 683327 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:683327G>A ENST00000319815.6 - 3 1369 c.105C>T c.(103-105)tcC>tcT p.S35S ENOSF1_ENST00000383578.3_Silent_p.S183S|ENOSF1_ENST00000340116.7_Silent_p.S286S|ENOSF1_ENST00000580982.1_Silent_p.S189S|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000251101.7_Silent_p.S265S Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 265 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 TGGCCAGCTTGGACATCCACT 0.567000 56 125 0 0 0.003610 0 0 MERTK 10461 broad.mit.edu 37 2 112702606 112702606 + Silent SNP C C T rs148690514 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:112702606C>T ENST00000295408.4 + 3 809 c.552C>T c.(550-552)atC>atT p.I184I MERTK_ENST00000421804.2_Silent_p.I184I|MERTK_ENST00000409780.1_Silent_p.I8I Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 184 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 ATGAAGAGATCGTGTCTGATC 0.398000 8 20 0 0 0.004482 0 0 PSG1 5669 broad.mit.edu 37 19 43373139 43373139 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:43373139C>T ENST00000244296.2 - 4 894 c.757G>A c.(757-759)Gag>Aag p.E253K PSG1_ENST00000595356.1_Missense_Mutation_p.E253K|PSG1_ENST00000595124.1_Missense_Mutation_p.E160K|PSG1_ENST00000436291.2_Missense_Mutation_p.E253K|PSG1_ENST00000403380.3_Missense_Mutation_p.E160K|PSG1_ENST00000312439.6_Missense_Mutation_p.E253K NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) TCCTTATTCTCCCTGGGGTTT 0.488000 93 93 0 0 0.003610 0 0 ASAH2 56624 broad.mit.edu 37 10 52008287 52008287 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:52008287G>A ENST00000395526.3 - 1 83 c.84C>T c.(82-84)ctC>ctT p.L28L ASAH2_ENST00000447815.1_Silent_p.L28L|ASAH2_ENST00000329428.6_Silent_p.L9L NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 28 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 ACAAGAGGCTGAGAAGGGCCA 0.448000 31 12 0 0 0.003755 0 0 RXFP2 122042 broad.mit.edu 37 13 32371395 32371395 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:32371395C>T ENST00000298386.2 + 17 1915 c.1844C>T c.(1843-1845)tCc>tTc p.S615F RXFP2_ENST00000380314.1_Missense_Mutation_p.S591F NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 615 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ATGTTCTGTTCCATTCAAAAA 0.398000 30 53 0 0 0.003271 0 0 BZRAP1 9256 broad.mit.edu 37 17 56393446 56393446 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:56393446G>A ENST00000355701.3 - 16 2906 c.2036C>T c.(2035-2037)cCg>cTg p.P679L BZRAP1_ENST00000343736.4_Missense_Mutation_p.P679L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P619L NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 679 SH3 1. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCTGTCAGCGGAAGCTCTGC 0.522000 55 85 0 0 0.003610 0 0 PRDM16 63976 broad.mit.edu 37 1 3347512 3347512 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:3347512G>A ENST00000378398.3 + 16 3443 c.3361G>A c.(3361-3363)Gag>Aag p.E1121K PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.E1120K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E1121K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E1121K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E1121K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E1122K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E1120K Q9HAZ2 PRD16_HUMAN PR domain containing 16 1121 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) cgtggaggaggaggacgacga 0.642000 T EVI1 """MDS, AML""" 10 15 0 0 0.006214 0 0 OTOGL 283310 broad.mit.edu 37 12 80730237 80730237 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:80730237G>A ENST00000458043.2 + 39 4624 c.4618G>A c.(4618-4620)Gga>Aga p.G1540R OTOGL_ENST00000547103.1_Missense_Mutation_p.G1528R NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TACATTTGATGGAAACAACGC 0.338000 12 22 0 0 0.001855 0 0 CCDC62 84660 broad.mit.edu 37 12 123286060 123286060 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:123286060C>T ENST00000253079.6 + 9 1711 c.1367C>T c.(1366-1368)tCt>tTt p.S456F CCDC62_ENST00000537566.1_Missense_Mutation_p.S217F|CCDC62_ENST00000392440.2_Missense_Mutation_p.S217F|CCDC62_ENST00000392441.4_Missense_Mutation_p.S456F NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 456 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) CCCACTTTATCTGATGAGAAG 0.428000 23 23 0 0 0.004656 0 0 CACNA1I 8911 broad.mit.edu 37 22 40045903 40045903 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:40045903C>T ENST00000336649.4 + 12 1983 c.1983C>T c.(1981-1983)gtC>gtT p.V661V CACNA1I_ENST00000407673.1_Silent_p.V620V|CACNA1I_ENST00000404898.1_Silent_p.V620V|CACNA1I_ENST00000400164.3_Silent_p.V620V|CACNA1I_ENST00000401624.1_Silent_p.V655V|CACNA1I_ENST00000402142.3_Silent_p.V655V Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 655 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCAACACCGTCAGCATGGGCA 0.687000 21 43 0 0 0.006320 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37482150 37482150 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:37482150G>A ENST00000374660.1 + 33 2866 c.2767G>A c.(2767-2769)Gcc>Acc p.A923T ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A804T|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A804T Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 974 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TCCAACTAAAGCCTTAGAATT 0.274000 29 7 0 0 0.002836 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509388 171509388 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:171509388C>T ENST00000367742.3 + 16 3025 c.2783C>T c.(2782-2784)tCc>tTc p.S928F PRRC2C_ENST00000392078.3_Missense_Mutation_p.S928F|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S926F|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S926F Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 926 protein C-terminus binding AGAAGTGTTTCCCATGGATCT 0.453000 5 44 0 0 0.001168 0 0 CSMD1 64478 broad.mit.edu 37 8 3265606 3265606 + Missense_Mutation SNP A A C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:3265606A>C ENST00000520002.1 - 15 2444 c.1889T>G c.(1888-1890)tTt>tGt p.F630C CSMD1_ENST00000537824.1_Missense_Mutation_p.F629C|CSMD1_ENST00000539096.1_Missense_Mutation_p.F629C|CSMD1_ENST00000400186.3_Missense_Mutation_p.F630C|CSMD1_ENST00000542608.1_Missense_Mutation_p.F629C|CSMD1_ENST00000602557.1_Missense_Mutation_p.F630C|CSMD1_ENST00000602723.1_Missense_Mutation_p.F630C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 630 CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCAACATCAAAATCATTAAA 0.433000 10 26 0 0 0.000978 0 0 MUC16 94025 broad.mit.edu 37 19 9076829 9076829 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9076829G>A ENST00000397910.4 - 3 10820 c.10617C>T c.(10615-10617)tcC>tcT p.S3539S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3540 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATGGTGGTGGAGATACCTG 0.542000 47 118 0 0 0.003610 0 0 OTOGL 283310 broad.mit.edu 37 12 80665537 80665537 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:80665537C>T ENST00000458043.2 + 23 2607 c.2601C>T c.(2599-2601)aaC>aaT p.N867N OTOGL_ENST00000547103.1_Silent_p.N867N NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TAGCCATGAACTTCACCTGCA 0.473000 34 40 0 0 0.004289 0 0 OR2L13 284521 broad.mit.edu 37 1 248263295 248263295 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248263295C>T ENST00000366478.2 + 3 955 c.618C>T c.(616-618)ctC>ctT p.L206L OR2L13_ENST00000358120.2_Silent_p.L206L NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) GCCTCTTTCTCCTTTTCCCTT 0.443000 48 104 0 0 0.003610 0 0 KSR2 283455 broad.mit.edu 37 12 117962911 117962911 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:117962911G>A ENST00000425217.1 - 14 1932 c.1878C>T c.(1876-1878)ttC>ttT p.F626F KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.F655F|KSR2_ENST00000302438.5_Silent_p.F352F NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 655 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTCCTGAAGGAAGATGCTGG 0.607000 30 40 0 0 0.003271 0 0 MYLK3 91807 broad.mit.edu 37 16 46744653 46744653 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:46744653C>T ENST00000394809.4 - 11 2278 c.2163G>A c.(2161-2163)atG>atA p.M721I MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.M380I NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 721 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CAATGAAATTCATGGTCTCTG 0.478000 91 120 0 0 0.003610 0 0 KCNB1 3745 broad.mit.edu 37 20 47990024 47990024 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:47990024G>A ENST00000371741.4 - 2 2239 c.2073C>T c.(2071-2073)taC>taT p.Y691Y NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 691 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAGGGTCATGGTACATCCCTA 0.562000 22 36 0 0 0.002780 0 0 NCOA6 23054 broad.mit.edu 37 20 33334674 33334674 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:33334674C>T ENST00000374796.2 - 11 5421 c.2851G>A c.(2851-2853)Gaa>Aaa p.E951K NCOA6_ENST00000359003.2_Missense_Mutation_p.E951K Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 951 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ATTCCTTGTTCTCCAGGCAAC 0.388000 31 43 0 0 0.004289 0 0 AIP 9049 broad.mit.edu 37 11 67258443 67258443 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:67258443C>T ENST00000279146.3 + 6 1090 c.972C>T c.(970-972)ttC>ttT p.F324F NM_003977.2 NP_003968.2 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 324 protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 AAGCCCGGTTCCGGGGGATCT 0.662000 Familial Isolated Pituitary Adenoma 12 11 0 0 0.001855 0 0 PALLD 23022 broad.mit.edu 37 4 169589400 169589400 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:169589400G>A ENST00000261509.6 + 3 1179 c.968G>A c.(967-969)gGa>gAa p.G323E PALLD_ENST00000505667.1_Missense_Mutation_p.G323E|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.G200E|PALLD_ENST00000335742.7_5'UTR NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 323 Ig-like C2-type 1. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CACTGTGAGGGAGGGGACCTC 0.507000 Pancreatic Cancer, Familial Clustering of 36 39 0 0 0.004878 0 0 KRT79 338785 broad.mit.edu 37 12 53227863 53227863 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:53227863C>T ENST00000330553.5 - 1 216 c.182G>A c.(181-183)aGc>aAc p.S61N NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 61 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTTATAGAGGCTTCGGCTGCC 0.662000 39 41 0 0 0.006230 0 0 ADAM18 8749 broad.mit.edu 37 8 39495126 39495126 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:39495126C>T ENST00000265707.5 + 9 776 c.731C>T c.(730-732)tCc>tTc p.S244F ADAM18_ENST00000379866.1_Missense_Mutation_p.S220F|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 244 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AACCAGATTTCCACCAGTGGG 0.363000 8 27 0 0 0.006214 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211365 107211365 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:107211365G>A ENST00000390636.2 - 0 106 TAGCAACAAGGAAAACCCAGC 0.507000 22 57 0 0 0.002299 0 0 LMAN2 10960 broad.mit.edu 37 5 176764160 176764160 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:176764160G>A ENST00000303127.7 - 6 971 c.767C>T c.(766-768)tCc>tTc p.S256F LMAN2_ENST00000515209.1_Missense_Mutation_p.S256F NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 256 L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTGCCGGCGGAGGCCCCGAA 0.642000 15 19 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179437594 179437594 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179437594C>T ENST00000589042.1 - 326 73489 c.73265G>A c.(73264-73266)aGa>aAa p.R24422K TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R22781K|TTN_ENST00000460472.2_Missense_Mutation_p.R15357K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15549K|TTN_ENST00000359218.5_Missense_Mutation_p.R15482K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21854K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22781 Fibronectin type-III 77. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGCAGCATTCTGTCTTCAGC 0.483000 23 23 0 0 0.002780 0 0 INHBE 83729 broad.mit.edu 37 12 57850536 57850536 + Nonsense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57850536C>T ENST00000266646.2 + 2 1174 c.958C>T c.(958-960)Cga>Tga p.R320* INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 320 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 CCCTACTGCCCGAAGGCCCCT 0.562000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 62 0 0 0.002096 0 0 OR4C15 81309 broad.mit.edu 37 11 55322535 55322535 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:55322535G>A ENST00000314644.2 + 1 753 c.753G>A c.(751-753)atG>atA p.M251I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTGGCCTCATGGTGGTCATCA 0.458000 HNSCC(20;0.049) 27 35 0 0 0.003954 0 0 SRBD1 55133 broad.mit.edu 37 2 45774702 45774702 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:45774702G>A ENST00000263736.4 - 13 1787 c.1725C>T c.(1723-1725)ttC>ttT p.F575F SRBD1_ENST00000535761.1_Silent_p.F94F NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 575 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CCGCCTCTCGGAAGCCTTGTC 0.328000 10 19 0 0 0.000978 0 0 OR51B6 390058 broad.mit.edu 37 11 5373574 5373574 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:5373574C>T ENST00000380219.1 + 1 837 c.837C>T c.(835-837)ttC>ttT p.F279F AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATCCACTTCCTTTTCCCAC 0.393000 60 66 0 0 0.003610 0 0 TSHR 7253 broad.mit.edu 37 14 81610130 81610130 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:81610130C>T ENST00000541158.2 + 11 2050 c.1728C>T c.(1726-1728)acC>acT p.T576T RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.T576T P16473 TSHR_HUMAN thyroid stimulating hormone receptor 576 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) ACACCGAGACCCCTCTTGCTC 0.498000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 35 118 0 0 0.004289 0 0 C9orf64 84267 broad.mit.edu 37 9 86554458 86554458 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:86554458G>A ENST00000376344.3 - 4 1210 c.994C>T c.(994-996)Ccg>Tcg p.P332S C9orf64_ENST00000314700.1_Missense_Mutation_p.P191S NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 332 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CGATGAAACGGAATTCCTTTC 0.373000 20 6 0 0 0.007413 0 0 CHRNA4 1137 broad.mit.edu 37 20 61990991 61990991 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:61990991G>A ENST00000370263.4 - 2 358 c.137C>T c.(136-138)tCc>tTc p.S46F CHRNA4_ENST00000463705.1_Intron NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 46 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GTTGTAACCGGAGAAGAGTTT 0.652000 23 33 0 0 0.008361 0 0 GPR113 165082 broad.mit.edu 37 2 26539791 26539791 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:26539791C>T ENST00000333478.6 - 3 896 c.314G>A c.(313-315)aGa>aAa p.R105K GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Missense_Mutation_p.R95K|GPR113_ENST00000311519.1_Missense_Mutation_p.R164K|GPR113_ENST00000459892.1_5'UTR NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 164 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTTGTGAGTCTGAGGCCAGT 0.592000 20 18 0 0 0.001523 0 0 ARGFX 503582 broad.mit.edu 37 3 121289648 121289648 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:121289648G>A ENST00000334384.3 + 1 98 c.88G>A c.(88-90)Gat>Aat p.D30N NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 30 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) ACCACCACAGGATCCAGCTAG 0.443000 26 34 0 0 0.005443 0 0 MYH15 22989 broad.mit.edu 37 3 108129561 108129561 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:108129561G>A ENST00000273353.3 - 32 4480 c.4424C>T c.(4423-4425)tCc>tTc p.S1475F NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1475 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CAACGCCTGGGACTCCTCGTG 0.597000 11 41 0 0 0.001368 0 0 SVEP1 79987 broad.mit.edu 37 9 113173882 113173882 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:113173882G>A ENST00000401783.2 - 37 6445 c.6109C>T c.(6109-6111)Cgg>Tgg p.R2037W SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R2014W NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2037 Sushi 11. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCAAAGAGCCGATGGGCAGTC 0.572000 16 4 0 0 0.004990 0 0 ZEB2 9839 broad.mit.edu 37 2 145157783 145157783 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:145157783G>A ENST00000558170.2 - 8 2155 c.971C>T c.(970-972)tCc>tTc p.S324F ZEB2_ENST00000303660.4_Missense_Mutation_p.S324F|ZEB2_ENST00000539609.3_Missense_Mutation_p.S300F|ZEB2_ENST00000409487.3_Missense_Mutation_p.S324F NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 324 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CGAACTGTAGGAACCAGAATG 0.373000 9 22 0 0 0.008291 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921795 78921795 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:78921795G>A ENST00000261751.3 - 5 963 c.852C>T c.(850-852)atC>atT p.I284I CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 284 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 TGGGTGGCACGATCTTGGAGA 0.562000 33 36 0 0 0.002836 0 0 VPS39 23339 broad.mit.edu 37 15 42476896 42476896 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:42476896C>T ENST00000318006.5 - 8 699 c.537G>A c.(535-537)gtG>gtA p.V179V VPS39_ENST00000348544.4_Silent_p.V190V NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 190 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) CCTTTCCATCCACCTATAGGA 0.493000 23 65 0 0 0.003330 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8670181 8670181 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:8670181C>T ENST00000270328.4 - 3 417 c.151G>A c.(151-153)Ggg>Agg p.G51R ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G51R Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 51 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AGCAGTGCCCCGTTGTGGTCC 0.682000 7 9 0 0 0.003080 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22830952 22830952 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:22830952C>T ENST00000376573.4 - 8 1045 c.817G>A c.(817-819)Gac>Aac p.D273N PIP4K2A_ENST00000545335.1_Missense_Mutation_p.D214N|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.D133N NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 273 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 AGACTGTAGTCCATGAGCTTC 0.542000 41 6 0 0 0.003610 0 0 PINX1 54984 broad.mit.edu 37 8 10622952 10622952 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:10622952C>T ENST00000314787.3 - 7 1065 c.946G>A c.(946-948)Gaa>Aaa p.E316K PINX1_ENST00000519088.1_3'UTR|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000426190.2_3'UTR|SOX7_ENST00000554914.1_Intron NM_017884.4 NP_060354.4 PIN2/TERF1 interacting, telomerase inhibitor 1 kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) ACTAGCGTTTCTTCTAGTGTA 0.532000 7 25 0 0 0.001984 0 0 C4BPA 722 broad.mit.edu 37 1 207307809 207307809 + Missense_Mutation SNP G G A rs141825051 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:207307809G>A ENST00000367070.3 + 9 1339 c.1145G>A c.(1144-1146)cGt>cAt p.R382H NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 382 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 AGGAAAAGTCGTCCTGCCAAT 0.398000 19 66 0 0 0.002780 0 0 A2M 2 broad.mit.edu 37 12 9248254 9248254 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9248254C>T ENST00000318602.7 - 16 2201 c.1894G>A c.(1894-1896)Ggg>Agg p.G632R NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 632 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TTCAAAGGCCCAGGGAAGCCA 0.358000 54 59 0 0 0.003610 0 0 PCDH18 54510 broad.mit.edu 37 4 138451383 138451383 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:138451383T>C ENST00000344876.4 - 1 2246 c.1860A>G c.(1858-1860)atA>atG p.I620M PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.I620M|PCDH18_ENST00000507846.1_Missense_Mutation_p.I400M NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 620 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TACCTGCTACTATGGCGCAGC 0.448000 101 143 0 0 0.003610 0 0 FCRL1 115350 broad.mit.edu 37 1 157771858 157771858 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:157771858C>T ENST00000358292.3 - 5 784 c.733G>A c.(733-735)Gag>Aag p.E245K FCRL1_ENST00000368176.3_Missense_Mutation_p.E245K|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.E245K NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 245 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTGATATCCTCGTGATAAAAC 0.592000 35 46 0 0 0.004878 0 0 ANKRD22 118932 broad.mit.edu 37 10 90582717 90582717 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:90582717A>G ENST00000371930.4 - 6 767 c.557T>C c.(556-558)aTg>aCg p.M186T ANKRD22_ENST00000476963.1_5'UTR NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 186 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) TTTCCTTAGCATTAATTCAAT 0.403000 64 20 0 0 0.003610 0 0 ZNF770 54989 broad.mit.edu 37 15 35274609 35274609 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:35274609G>A ENST00000356321.4 - 3 1371 c.1027C>T c.(1027-1029)Ctt>Ttt p.L343F NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) GCACGCTTAAGCTTGGCCAAG 0.333000 4 8 0 0 0.000602 0 0 ATG5 9474 broad.mit.edu 37 6 106740973 106740973 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:106740973G>A ENST00000369076.3 - 4 568 c.245C>T c.(244-246)cCa>cTa p.P82L ATG5_ENST00000369070.1_Missense_Mutation_p.P4L|ATG5_ENST00000360666.4_Intron|ATG5_ENST00000343245.3_Missense_Mutation_p.P82L NM_004849.2 NP_004840.1 Q9H1Y0 ATG5_HUMAN autophagy related 5 82 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding endometrium(1)|large_intestine(5)|lung(1)|prostate(1) 8 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) CAAACCAATTGGATAATGCCT 0.303000 42 12 0 0 0.003610 0 0 RNPC3 55599 broad.mit.edu 37 1 104093653 104093653 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:104093653G>A ENST00000533099.1 + 14 1688 c.1452G>A c.(1450-1452)aaG>aaA p.K484K RNPC3_ENST00000423855.2_Silent_p.K484K|RNPC3_ENST00000524631.1_Silent_p.K483K Q96LT9 RBM40_HUMAN RNA-binding region (RNP1, RRM) containing 3 484 RRM 2. mRNA processing U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163) AAGCCTTAAAGGAAGCTAATG 0.338000 8 28 0 0 0.003080 0 0 SNCAIP 9627 broad.mit.edu 37 5 121767736 121767736 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:121767736G>A ENST00000261367.7 + 8 2824 c.1396G>A c.(1396-1398)Gat>Aat p.D466N SNCAIP_ENST00000379538.3_Missense_Mutation_p.D53N|SNCAIP_ENST00000379533.2_Missense_Mutation_p.D466N|SNCAIP_ENST00000379536.2_Missense_Mutation_p.D359N|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.D419N|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.D466N Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 419 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) TTGTTCTAAGGATTTTCCAAG 0.408000 24 24 0 0 0.006320 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22347999 22347999 + Silent SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:22347999T>C ENST00000344041.6 - 5 492 c.180A>G c.(178-180)caA>caG p.Q60Q RAPGEF5_ENST00000405243.1_Silent_p.Q213Q NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 0 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GAGGCACAAGTTGCAGTAAAA 0.398000 4 11 0 0 0.001168 0 0 CENPE 1062 broad.mit.edu 37 4 104096030 104096030 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:104096030G>A ENST00000265148.3 - 16 1599 c.1510C>T c.(1510-1512)Cgt>Tgt p.R504C CENPE_ENST00000380026.3_Missense_Mutation_p.R504C NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 504 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TAGTCAGCACGAAGTGAGTTC 0.269000 4 4 0 0 0.000248 0 0 NLRP3 114548 broad.mit.edu 37 1 247587626 247587626 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:247587626C>T ENST00000366497.2 + 4 1661 c.881C>T c.(880-882)cCc>cTc p.P294L NLRP3_ENST00000348069.2_Missense_Mutation_p.P294L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P294L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.P294L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P294L|NLRP3_ENST00000336119.3_Missense_Mutation_p.P294L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 294 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GTGAGAAAACCCTCCAGAATC 0.587000 45 75 0 0 0.002522 0 0 DNAH1 25981 broad.mit.edu 37 3 52433084 52433084 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:52433084G>A ENST00000420323.2 + 76 12569 c.12308G>A c.(12307-12309)tGg>tAg p.W4103* NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4168 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGCAGGCCTGGATCCAAGAT 0.542000 114 87 0 0 0.003610 0 0 GYPE 2996 broad.mit.edu 37 4 144801625 144801625 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:144801625C>T ENST00000358615.4 - 2 126 c.75G>A c.(73-75)gtG>gtA p.V25V GYPE_ENST00000437468.2_Silent_p.V25V NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) 25 integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) TGTGCATTGCCACACCAGTGG 0.383000 16 118 0 0 0.006122 0 0 POM121L12 285877 broad.mit.edu 37 7 53103598 53103598 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:53103598C>T ENST00000408890.4 + 1 250 c.234C>T c.(232-234)atC>atT p.I78I NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 78 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCACCTCATCGAGGTGCGGC 0.716000 20 45 0 0 0.001882 0 0 TRPC5 7224 broad.mit.edu 37 X 111020103 111020103 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:111020103C>T ENST00000262839.2 - 11 3278 c.2360G>A c.(2359-2361)aGt>aAt p.S787N NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 787 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AGCCCCACCACTGCCATCATT 0.478000 146 18 0 0 0.003610 0 0 TNNC2 7125 broad.mit.edu 37 20 44453199 44453199 + Missense_Mutation SNP C C G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:44453199C>G ENST00000372557.1 - 4 296 c.89G>C c.(88-90)aGg>aCg p.R30T TNNC2_ENST00000372555.3_Missense_Mutation_p.R45T P02585 TNNC2_HUMAN troponin C type 2 (fast) 45 EF-hand 1. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) GCCCAGCATCCTCATCACCGT 0.617000 29 41 0 0 0.001786 0 0 USP2 9099 broad.mit.edu 37 11 119228237 119228237 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:119228237G>A ENST00000260187.2 - 11 1859 c.1565C>T c.(1564-1566)cCc>cTc p.P522L USP2_ENST00000525735.1_Missense_Mutation_p.P313L|USP2_ENST00000455332.2_Missense_Mutation_p.P279L NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 522 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GTCTCTTAGGGGGaagttcac 0.488000 49 12 0 0 0.003610 0 0 C10orf113 387638 broad.mit.edu 37 10 21414812 21414812 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:21414812G>A ENST00000534331.1 - 2 458 c.408C>T c.(406-408)ttC>ttT p.F136F C10orf113_ENST00000529198.1_3'UTR|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Silent_p.F126F NM_001010896.2 NP_001010896.2 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 136 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 TTATGCCCTGGAATTTAAATC 0.433000 20 43 0 0 0.001882 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507009 130507009 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:130507009G>A ENST00000314830.8 - 7 1747 c.1634C>T c.(1633-1635)cCc>cTc p.P545L SH2D3C_ENST00000429553.1_Missense_Mutation_p.P191L|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P388L|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P477L|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P387L|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P385L NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 545 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTCCACGATGGGGACTGTGAA 0.597000 72 18 0 0 0.003610 0 0 LIMK2 3985 broad.mit.edu 37 22 31663806 31663806 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:31663806C>T ENST00000331728.4 + 10 1287 c.1173C>T c.(1171-1173)ttC>ttT p.F391F LIMK2_ENST00000340552.4_Silent_p.F370F|LIMK2_ENST00000333611.4_Silent_p.F370F|LIMK2_ENST00000406516.1_Silent_p.F313F|LIMK2_ENST00000444929.2_Silent_p.F145F NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 391 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 TGCTCAAGTTCATTGGTGTGC 0.527000 39 47 0 0 0.006230 0 0 CD226 10666 broad.mit.edu 37 18 67562948 67562948 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:67562948G>A ENST00000280200.4 - 4 984 c.716C>T c.(715-717)aCt>aTt p.T239I CD226_ENST00000577287.1_Missense_Mutation_p.T84I|CD226_ENST00000581982.1_Missense_Mutation_p.T84I|CD226_ENST00000582621.1_Missense_Mutation_p.T239I NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 239 Ig-like C2-type 2. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) CTCGGCTACAGTCAATCTCAT 0.507000 60 97 0 0 0.003610 0 0 OR4A47 403253 broad.mit.edu 37 11 48510571 48510571 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:48510571C>T ENST00000446524.1 + 1 303 c.227C>T c.(226-228)tCc>tTc p.S76F NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TCATCCATTTCCCCCAGATTG 0.423000 53 60 0 0 0.003610 0 0 RGPD4 285190 broad.mit.edu 37 2 108487252 108487252 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:108487252G>A ENST00000408999.3 + 20 2869 c.2792G>A c.(2791-2793)gGa>gAa p.G931E RGPD4_ENST00000354986.4_Missense_Mutation_p.G931E NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 931 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCGGAACCAGGAAATCAAGAA 0.408000 82 164 0 0 0.003610 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94337681 94337681 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:94337681G>A ENST00000436063.2 - 5 2071 c.2014C>T c.(2014-2016)Ccg>Tcg p.P672S NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) AATCTTTTCGGGTCCATGCTG 0.398000 52 194 0 0 0.003610 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111953096 111953096 + Splice_Site SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:111953096T>C ENST00000218789.5 + 19 2339 c.1840_splice c.e19-1 p.R614_splice ARHGEF7_ENST00000426073.2_Splice_Site_p.S555_splice|ARHGEF7_ENST00000370623.3_Splice_Site_p.S640_splice|ARHGEF7_ENST00000375736.4_Splice_Site_p.S555_splice|ARHGEF7_ENST00000375737.5_Splice_Site_p.S630_splice Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 792 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TGATCCTAGGTTCACGCAAAG 0.338000 51 85 0 0 0.003610 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102516134 102516134 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:102516134C>T ENST00000360184.4 + 76 13763 c.13599C>T c.(13597-13599)agC>agT p.S4533S RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4533 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AGGCCAACAGCTGGTCCCTGG 0.617000 29 6 0 0 0.005443 0 0 DPYSL4 10570 broad.mit.edu 37 10 134008372 134008372 + Missense_Mutation SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:134008372G>T ENST00000338492.4 + 4 501 c.337G>T c.(337-339)Ggt>Tgt p.G113C DPYSL4_ENST00000368627.1_Missense_Mutation_p.G36C|DPYSL4_ENST00000368629.1_Missense_Mutation_p.G36C|DPYSL4_ENST00000493882.1_3'UTR NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 113 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.G113S(1) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CCCCGACACGGGTGTGAGCCT 0.657000 47 10 3.68337e-26 4.37938e-26 0.003610 1 0 TCEB3C 162699 broad.mit.edu 37 18 44554605 44554605 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:44554605G>A ENST00000330682.2 - 1 1844 c.1609C>T c.(1609-1611)Cga>Tga p.R537* KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 537 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TTGTAGTCTCGAATTGCCTTG 0.602000 11 533 0 0 0.008871 0 0 LACTB 114294 broad.mit.edu 37 15 63414106 63414106 + Silent SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:63414106T>A ENST00000413507.2 + 1 75 c.36T>A c.(34-36)gcT>gcA p.A12A LACTB_ENST00000261893.4_Silent_p.A12A NM_171846.2 NP_741982.1 P83111 LACTB_HUMAN lactamase, beta 12 mitochondrion hydrolase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 CTGCCCGGGCTGCCGCCCCCG 0.761000 5 4 0 0 0.001984 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162691 33162691 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:33162691G>A ENST00000510327.1 - 0 346 AGGAAGAAGAGATTTTAAACA 0.473000 4 6 0 0 0.000248 0 0 GRM8 2918 broad.mit.edu 37 7 126409978 126409978 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:126409978C>T ENST00000339582.2 - 7 2106 c.1298G>A c.(1297-1299)cGa>cAa p.R433Q GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q|GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 433 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GGTACTCATTCGTGGACAAAG 0.403000 HNSCC(24;0.065) 41 25 0 0 0.002522 0 0 KIF5A 3798 broad.mit.edu 37 12 57962771 57962771 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57962771C>T ENST00000455537.2 + 9 1014 c.740C>T c.(739-741)gCc>gTc p.A247V KIF5A_ENST00000286452.5_Missense_Mutation_p.A158V NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 247 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GCAGAGGGAGCCGTGCTGGAC 0.567000 7 29 0 0 0.004482 0 0 KCMF1 56888 broad.mit.edu 37 2 85270737 85270737 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:85270737G>A ENST00000409785.3 + 4 734 c.375G>A c.(373-375)acG>acA p.T125T NM_020122.4 NP_064507.3 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 125 intracellular ligase activity|zinc ion binding ovary(3) 3 ATCATGTCACGGATGACTTTG 0.383000 15 19 0 0 0.003163 0 0 LY9 4063 broad.mit.edu 37 1 160783515 160783515 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:160783515G>A ENST00000263285.5 + 3 574 c.544G>A c.(544-546)Ggg>Agg p.G182R LY9_ENST00000368041.2_Missense_Mutation_p.G142R|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.G182R NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 182 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTCCGTGAAGGGGGCAGAGAA 0.532000 31 87 0 0 0.002445 0 0 MYO18B 84700 broad.mit.edu 37 22 26219584 26219584 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:26219584C>T ENST00000335473.7 + 13 2884 c.2634C>T c.(2632-2634)atC>atT p.I878I MYO18B_ENST00000407587.2_Silent_p.I878I|MYO18B_ENST00000536101.1_Silent_p.I878I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 878 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TTCGACAGATCATCCAGCAAA 0.587000 92 138 0 0 0.003610 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965630 35965630 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:35965630C>T ENST00000274278.3 - 4 1058 c.701G>A c.(700-702)aGg>aAg p.R234K UGT3A1_ENST00000507113.1_Missense_Mutation_p.R200K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R234K|UGT3A1_ENST00000333811.4_Missense_Mutation_p.R180K|UGT3A1_ENST00000513233.1_Intron NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 234 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAAAACTGGCCTAGAGCCTTC 0.438000 34 29 0 0 0.005524 0 0 SYBU 55638 broad.mit.edu 37 8 110655095 110655095 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:110655095G>A ENST00000399066.3 - 1 809 c.82C>T c.(82-84)Cgg>Tgg p.R28W SYBU_ENST00000446070.2_Missense_Mutation_p.R30W|SYBU_ENST00000433638.1_Missense_Mutation_p.R31W|SYBU_ENST00000419099.1_Missense_Mutation_p.R30W|SYBU_ENST00000422135.1_Missense_Mutation_p.R31W|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000533895.1_Missense_Mutation_p.R30W|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000424158.2_Missense_Mutation_p.R36W|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000533171.1_Missense_Mutation_p.R31W|SYBU_ENST00000408908.2_Missense_Mutation_p.R31W|SYBU_ENST00000440310.1_Missense_Mutation_p.R31W|SYBU_ENST00000276646.9_Missense_Mutation_p.R31W|SYBU_ENST00000528647.1_Missense_Mutation_p.R30W|SYBU_ENST00000528331.1_Intron NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 31 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 ATATGGGGCCGAAGAATCAAC 0.502000 32 80 0 0 0.002445 0 0 FLG2 388698 broad.mit.edu 37 1 152324245 152324245 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152324245C>T ENST00000388718.5 - 3 6089 c.6017G>A c.(6016-6018)aGa>aAa p.R2006K FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2006 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGCCATGTCTAGTGGTATC 0.527000 149 255 0 0 0.003610 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962071 73962071 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:73962071G>A ENST00000373468.1 - 3 2972 c.2321C>T c.(2320-2322)tCt>tTt p.S774F KIAA2022_ENST00000055682.5_Missense_Mutation_p.S774F Q5QGS0 K2022_HUMAN KIAA2022 774 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATGAAATTCAGATAGACGGGA 0.388000 34 53 0 0 0.002096 0 0 DDX46 9879 broad.mit.edu 37 5 134117686 134117686 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:134117686G>A ENST00000452510.2 + 8 1113 c.955G>A c.(955-957)Gaa>Aaa p.E319K DDX46_ENST00000354283.4_Missense_Mutation_p.E319K NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 319 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAAGCTTCTAGAACCAGTTGA 0.343000 10 30 0 0 0.008291 0 0 COL6A3 1293 broad.mit.edu 37 2 238267874 238267874 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:238267874C>T ENST00000295550.4 - 19 6781 c.6329G>A c.(6328-6330)gGa>gAa p.G2110E COL6A3_ENST00000347401.3_Missense_Mutation_p.G1909E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1910E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1503E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1904E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1904E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2110 Collagen-like 2.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.G2110A(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACCATCCAGTCCAATTTCTCC 0.408000 39 29 0 0 0.005524 0 0 AIM1L 55057 broad.mit.edu 37 1 26669299 26669299 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:26669299G>A ENST00000527815.1 - 4 577 c.528C>T c.(526-528)acC>acT p.T176T AIM1L_ENST00000308182.5_Silent_p.T5T NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 5 Beta/gamma crystallin 'Greek key' 4. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TTGTCCCTGGGGTTCTGAGTT 0.587000 69 104 0 0 0.003610 0 0 TJP3 27134 broad.mit.edu 37 19 3743959 3743959 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:3743959G>A ENST00000541714.2 + 15 2328 c.1866G>A c.(1864-1866)gtG>gtA p.V622V TJP3_ENST00000539908.2_Silent_p.V586V|TJP3_ENST00000589378.1_Silent_p.V631V|TJP3_ENST00000587686.1_Silent_p.V641V|TJP3_ENST00000262968.9_Silent_p.V655V|TJP3_ENST00000382008.3_Silent_p.V636V NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 636 Guanylate kinase-like. tight junction protein binding p.V655V(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCGGTAGTGATCCTGGGAC 0.522000 47 51 0 0 0.003610 0 0 GRIN2A 2903 broad.mit.edu 37 16 9934623 9934623 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:9934623G>A ENST00000396573.2 - 8 1841 c.1532C>T c.(1531-1533)tCg>tTg p.S511L GRIN2A_ENST00000562109.1_Missense_Mutation_p.S511L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S354L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S511L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S511L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S511L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 511 Glutamate binding (By similarity). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GATGGTGAGCGAGCCAACTGC 0.448000 14 63 0 0 0.003163 0 0 C1QTNF6 114904 broad.mit.edu 37 22 37581424 37581424 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:37581424G>A ENST00000337843.2 - 2 198 c.123C>T c.(121-123)atC>atT p.I41I C1QTNF6_ENST00000397110.2_Silent_p.I41I|C1QTNF6_ENST00000470655.1_5'UTR NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 22 collagen breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 CCACCATAGGGATCTCACACA 0.607000 31 41 0 0 0.001786 0 0 CCDC141 285025 broad.mit.edu 37 2 179720119 179720119 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179720119C>T ENST00000420890.2 - 19 3132 c.3015G>A c.(3013-3015)aaG>aaA p.K1005K CCDC141_ENST00000295723.5_Silent_p.K430K NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 430 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCAAATTCTTCTTGTAATCTG 0.343000 23 32 0 0 0.003954 0 0 C6orf222 389384 broad.mit.edu 37 6 36287322 36287322 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:36287322C>T ENST00000437635.2 - 11 1911 c.1734G>A c.(1732-1734)ctG>ctA p.L578L NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 578 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 GGGTGGCTACCAGCTTGCTGA 0.517000 39 53 0 0 0.008740 0 0 OR6K6 128371 broad.mit.edu 37 1 158725527 158725527 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:158725527C>T ENST00000368144.2 + 1 1018 c.922C>T c.(922-924)Ctt>Ttt p.L308F NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TTTTGTTATCCTTGCTCCCTT 0.443000 67 57 0 0 0.003610 0 0 MED12 9968 broad.mit.edu 37 X 70341598 70341598 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:70341598C>T ENST00000333646.6 + 7 1232 c.1033C>T c.(1033-1035)Ccc>Tcc p.P345S MED12_ENST00000374080.3_Missense_Mutation_p.P345S|MED12_ENST00000374102.1_Missense_Mutation_p.P345S NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 345 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) ACCCTCGACTCCCTTTAGTGA 0.557000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 36 10 0 0 0.005524 0 0 SSX7 280658 broad.mit.edu 37 X 52681972 52681972 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:52681972C>T ENST00000298181.5 - 3 290 c.132G>A c.(130-132)gaG>gaA p.E44E NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 44 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) AGCTGATTTTCTCCAAGGATT 0.378000 32 8 0 0 0.002836 0 0 FAM47C 442444 broad.mit.edu 37 X 37027408 37027408 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:37027408G>A ENST00000358047.3 + 1 977 c.925G>A c.(925-927)Gag>Aag p.E309K NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 309 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCTGCCTGGAGCCTCCCAA 0.592000 25 25 0 0 0.004656 0 0 WNK4 65266 broad.mit.edu 37 17 40933287 40933287 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:40933287G>A ENST00000246914.5 + 1 592 c.571G>A c.(571-573)Ggg>Agg p.G191R NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 191 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGTGTATCGAGGGCTAGACAC 0.617000 11 42 0 0 0.000978 0 0 TRGV8 6982 broad.mit.edu 37 7 38370226 38370226 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:38370226C>T ENST00000390343.2 - 0 185 ACTTTGTTCTCCCTTCCAAGT 0.438000 33 43 0 0 0.004878 0 0 EPHA6 285220 broad.mit.edu 37 3 97356763 97356763 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:97356763G>A ENST00000389672.5 + 14 2659 c.2621G>A c.(2620-2622)cGa>cAa p.R874Q EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000514100.1_Missense_Mutation_p.R266Q|EPHA6_ENST00000502694.1_Missense_Mutation_p.R266Q NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 779 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGAATGCTCCGAGGCATTGCA 0.423000 52 119 0 0 0.003610 0 0 HRNR 388697 broad.mit.edu 37 1 152188193 152188193 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152188193G>A ENST00000368801.2 - 3 5987 c.5912C>T c.(5911-5913)tCa>tTa p.S1971L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1971 keratinization calcium ion binding|protein binding p.S1971*(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCACCCTGAGCCAGACCC 0.607000 56 1672 0 0 0.006320 0 0 CUX2 23316 broad.mit.edu 37 12 111779803 111779803 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:111779803C>T ENST00000261726.6 + 21 3759 c.3605C>T c.(3604-3606)tCc>tTc p.S1202F NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1202 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GAGCTCCTCTCCTTCCAGCTC 0.607000 44 45 0 0 0.003214 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42143230 42143230 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:42143230G>A ENST00000444063.1 + 1 178 c.46G>A c.(46-48)Gga>Aga p.G16R L3MBTL1_ENST00000427442.2_Intron|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G16R|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G16R|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000418998.1_Intron Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 16 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 GATGGGTCAAGGACCCGTACG 0.647000 7 4 0 0 0.004482 0 0 UHRF1 29128 broad.mit.edu 37 19 4911012 4911012 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:4911012G>A ENST00000592666.1 + 0 691 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GTTCCACGTGGAGCCAGGCCT 0.642000 OREG0025176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 71 0 0 0.003954 0 0 AMER3 205147 broad.mit.edu 37 2 131520963 131520963 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:131520963G>A ENST00000423981.1 + 2 1428 c.1318G>A c.(1318-1320)Gat>Aat p.D440N AMER3_ENST00000321420.4_Missense_Mutation_p.D440N NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.D440N(1) CAGCCCAGATGATGACCTGTG 0.662000 29 29 0 0 0.001786 0 0 POFUT1 23509 broad.mit.edu 37 20 30804475 30804475 + Missense_Mutation SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:30804475T>A ENST00000375749.3 + 4 555 c.493T>A c.(493-495)Ttt>Att p.F165I POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.F165I|POFUT1_ENST00000486717.1_3'UTR NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 165 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GTCGGAGCTTTTTACAGGCAT 0.512000 55 70 0 0 0.003610 0 0 UNC13C 440279 broad.mit.edu 37 15 54919182 54919182 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:54919182G>A ENST00000545554.1 + 32 6516 c.6516G>A c.(6514-6516)ctG>ctA p.L2172L UNC13C_ENST00000260323.11_Silent_p.L2172L|UNC13C_ENST00000537900.1_Silent_p.L2170L|UNC13C_ENST00000539562.2_Silent_p.L93L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2172 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATCCTCTTCTGAAAAATATCT 0.393000 32 33 0 0 0.002836 0 0 WBP11P1 441818 broad.mit.edu 37 18 30091984 30091984 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:30091984G>A ENST00000567636.1 + 0 359 NR_003558.1 CCGAGACATGGAGAAATTGGA 0.403000 19 22 0 0 0.006122 0 0 CA1 759 broad.mit.edu 37 8 86253845 86253845 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:86253845C>T ENST00000523953.1 - 3 1066 c.20G>A c.(19-21)gGa>gAa p.G7E CA1_ENST00000522389.1_5'UTR|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000542576.1_Missense_Mutation_p.G7E|CA1_ENST00000523022.1_Missense_Mutation_p.G7E|CA1_ENST00000431316.1_Missense_Mutation_p.G7E|CA1_ENST00000256119.5_Missense_Mutation_p.G7E|CA1_ENST00000432364.2_Missense_Mutation_p.G7E P00915 CAH1_HUMAN carbonic anhydrase I 7 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) GTCATCATATCCCCAGTCTGG 0.323000 8 41 0 0 0.006214 0 0 OR6N1 128372 broad.mit.edu 37 1 158736272 158736272 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:158736272G>A ENST00000335094.2 - 1 220 c.201C>T c.(199-201)tcC>tcT p.S67S NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GCTCTGAGAAGGAGAGAATGC 0.498000 26 83 0 0 0.007291 0 0 KCNH2 3757 broad.mit.edu 37 7 150656680 150656680 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:150656680G>A ENST00000392968.2 - 1 1284 c.164C>T c.(163-165)cCc>cTc p.P55L KCNH2_ENST00000430723.3_Missense_Mutation_p.P151L|KCNH2_ENST00000262186.5_Missense_Mutation_p.P151L Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 151 PAS. blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCAGCTGGTGGGGGGGCCCCG 0.592000 14 72 0 0 0.004007 0 0 DDX60 55601 broad.mit.edu 37 4 169158505 169158505 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:169158505G>A ENST00000393743.3 - 32 4634 c.4343C>T c.(4342-4344)tCt>tTt p.S1448F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1448 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AACAAGATTAGAAGGTTCATG 0.338000 9 24 0 0 0.000978 0 0 DRD5 1816 broad.mit.edu 37 4 9783797 9783797 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:9783797C>T ENST00000304374.2 + 1 540 c.144C>T c.(142-144)acC>acT p.T48T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 48 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCCTGCTGACCCTACTCATCA 0.677000 10 14 0 0 0.008291 0 0 DNAH11 8701 broad.mit.edu 37 7 21856294 21856294 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:21856294G>A ENST00000328843.6 + 65 10594 c.10563G>A c.(10561-10563)ctG>ctA p.L3521L DNAH11_ENST00000409508.3_Silent_p.L3514L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3521 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GAATGGACCTGAAAGTCACAC 0.448000 Kartagener syndrome 28 21 0 0 0.001786 0 0 GNGT2 2793 broad.mit.edu 37 17 47284745 47284745 + Missense_Mutation SNP C C T rs144009787 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:47284745C>T ENST00000511277.1 - 3 219 c.40G>A c.(40-42)Gag>Aag p.E14K GNGT2_ENST00000503070.1_Missense_Mutation_p.E14K|GNGT2_ENST00000300406.2_Missense_Mutation_p.E14K|GNGT2_ENST00000507680.1_Missense_Mutation_p.E14K|GNGT2_ENST00000511673.1_Missense_Mutation_p.E14K|GNGT2_ENST00000515635.1_Missense_Mutation_p.E14K NM_001198756.1 NP_001185685.1 O14610 GBGT2_HUMAN guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 14 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) TGCTCCACCTCCATCTTCAAC 0.542000 32 142 0 0 0.008361 0 0 TMEM130 222865 broad.mit.edu 37 7 98457947 98457947 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:98457947C>T ENST00000450876.1 - 3 1469 c.154G>A c.(154-156)Gac>Aac p.D52N TMEM130_ENST00000345589.4_Missense_Mutation_p.D34N|TMEM130_ENST00000416379.2_Missense_Mutation_p.D136N|TMEM130_ENST00000339375.4_Missense_Mutation_p.D136N|TMEM130_ENST00000546258.1_Missense_Mutation_p.D117N Q8N3G9 TM130_HUMAN transmembrane protein 130 136 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ACAACAAGGTCCCCCACGAGG 0.552000 29 19 0 0 0.003271 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43662469 43662469 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:43662469C>T ENST00000374466.3 + 6 1512 c.1177C>T c.(1177-1179)Cct>Tct p.P393S NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 393 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GGTGTTTTACCCTGTGGTGTT 0.363000 8 18 0 0 0.004482 0 0 IGHV3-15 28448 broad.mit.edu 37 14 106610532 106610532 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:106610532G>A ENST00000390603.2 - 0 217 TACTGAAAGTGAATCCAGAGG 0.577000 28 7 0 0 0.002445 0 0 PLCL1 5334 broad.mit.edu 37 2 198950711 198950711 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:198950711C>T ENST00000428675.1 + 2 2868 c.2470C>T c.(2470-2472)Cgg>Tgg p.R824W PLCL1_ENST00000437704.2_Missense_Mutation_p.R726W NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 824 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GCCTGGATATCGGCATGTTCC 0.453000 17 38 0 0 0.006122 0 0 LAMA5 3911 broad.mit.edu 37 20 60921188 60921188 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:60921188C>T ENST00000252999.3 - 10 1432 c.1366G>A c.(1366-1368)Gag>Aag p.E456K LAMA5_ENST00000370692.3_Missense_Mutation_p.E456K|LAMA5_ENST00000370677.3_Missense_Mutation_p.E456K NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 456 Laminin EGF-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCACACCGCTCCCCAGAGAAG 0.647000 7 34 0 0 0.001984 0 0 RYR1 6261 broad.mit.edu 37 19 38996454 38996454 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:38996454G>A ENST00000355481.4 + 54 8540 c.8409G>A c.(8407-8409)gaG>gaA p.E2803E RYR1_ENST00000360985.3_Silent_p.E2803E|RYR1_ENST00000359596.3_Silent_p.E2803E NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2803 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGACAAAGAGATTTACCGCT 0.567000 8 29 0 0 0.004482 0 0 NLRP4 147945 broad.mit.edu 37 19 56370173 56370173 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:56370173C>T ENST00000301295.6 + 3 1836 c.1414C>T c.(1414-1416)Cat>Tat p.H472Y NLRP4_ENST00000587891.1_Missense_Mutation_p.H397Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.H472Y NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 472 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCACCTTGATCATCCTCACCC 0.478000 37 75 0 0 0.004289 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776277 77776277 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:77776277C>T ENST00000521891.2 + 11 10775 c.10327C>T c.(10327-10329)Cca>Tca p.P3443S ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3398S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3417S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3394S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3394 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCTTCGTGTCCCAGTCAGCAA 0.448000 HNSCC(33;0.089) 9 23 0 0 0.008291 0 0 KIAA1804 84451 broad.mit.edu 37 1 233511738 233511738 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:233511738G>A ENST00000366624.3 + 7 2013 c.1752G>A c.(1750-1752)agG>agA p.R584R MLK4_ENST00000366622.1_Silent_p.R30R NM_032435.2 NP_115811.2 ATGTAAAAAGGAATTTTAAGA 0.348000 24 24 0 0 0.002780 0 0 MGAM 8972 broad.mit.edu 37 7 141755362 141755362 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:141755362G>A ENST00000475668.2 + 28 3373 c.3319G>A c.(3319-3321)Gac>Aac p.D1107N MGAM_ENST00000549489.2_Missense_Mutation_p.D1107N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1107 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTTCAGTTGGGACTCTCAGCT 0.453000 24 89 0 0 0.006320 0 0 CHD2 1106 broad.mit.edu 37 15 93567671 93567671 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:93567671C>T ENST00000394196.4 + 39 6291 c.5223C>T c.(5221-5223)ttC>ttT p.F1741F NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1741 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGCAGGATTTCCGACGAATGT 0.498000 25 29 0 0 0.005443 0 0 LRP1B 53353 broad.mit.edu 37 2 141607701 141607701 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:141607701C>T ENST00000389484.3 - 29 5880 c.4909G>A c.(4909-4911)Gga>Aga p.G1637R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1637 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AACCCAGTTCCGTTAATAAAA 0.313000 TSP Lung(27;0.18) 15 48 0 0 0.004007 0 0 IGSF9 57549 broad.mit.edu 37 1 159900975 159900975 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:159900975G>A ENST00000368094.1 - 13 1787 c.1590C>T c.(1588-1590)ggC>ggT p.G530G IGSF9_ENST00000361509.3_Silent_p.G514G|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 530 Fibronectin type-III 1. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CACCATCAAAGCCAGGCTCCC 0.552000 21 10 0 0 0.001523 0 0 WNT2 7472 broad.mit.edu 37 7 116960676 116960676 + Nonsense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:116960676C>T ENST00000265441.3 - 2 554 c.255G>A c.(253-255)tgG>tgA p.W85* AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 85 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TGTTGCAATTCCAGCGGTGCT 0.592000 11 14 0 0 0.001855 0 0 INPP5D 3635 broad.mit.edu 37 2 234106901 234106901 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:234106901C>T ENST00000359570.5 + 27 2818 c.2818C>T c.(2818-2820)Ccg>Tcg p.P940S INPP5D_ENST00000450745.1_Missense_Mutation_p.P704S|INPP5D_ENST00000455936.2_Missense_Mutation_p.P704S Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 952 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CAAGGACTCCCCGCTGGGGCC 0.652000 28 17 0 0 0.008361 0 0 OPRL1 4987 broad.mit.edu 37 20 62724272 62724272 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:62724272C>T ENST00000349451.3 + 4 611 c.199C>T c.(199-201)Ctg>Ttg p.L67L OPRL1_ENST00000355631.4_Silent_p.L67L|OPRL1_ENST00000336866.2_Silent_p.L67L NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 67 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)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) CGGAGGGCTCCTGGGGAACTG 0.642000 27 39 0 0 0.006320 0 0 DZIP3 9666 broad.mit.edu 37 3 108363029 108363029 + Missense_Mutation SNP A A T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:108363029A>T ENST00000361582.3 + 14 1390 c.1160A>T c.(1159-1161)aAg>aTg p.K387M DZIP3_ENST00000463306.1_Missense_Mutation_p.K387M NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 387 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 CCTATCTTCAAGCTTGATTAT 0.323000 23 27 0 0 0.003330 0 0 THSD7A 221981 broad.mit.edu 37 7 11418702 11418702 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:11418702C>T ENST00000423059.3 - 26 5047 c.4796G>A c.(4795-4797)gGg>gAg p.G1599E AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1599 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCACCTGGCCCAAATGGCTG 0.453000 HNSCC(18;0.044) 27 31 0 0 0.004656 0 0 NRXN1 9378 broad.mit.edu 37 2 50847263 50847263 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:50847263G>A ENST00000404971.1 - 9 2676 c.1337C>T c.(1336-1338)aCc>aTc p.T446I NRXN1_ENST00000405472.3_Missense_Mutation_p.T398I|NRXN1_ENST00000402717.3_Missense_Mutation_p.T398I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.T406I|NRXN1_ENST00000406859.3_Missense_Mutation_p.T406I|NRXN1_ENST00000401669.2_Missense_Mutation_p.T406I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 406 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCCCAGCATGGTATAATCTTC 0.478000 17 16 0 0 0.004990 0 0 LAMA2 3908 broad.mit.edu 37 6 129371187 129371187 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:129371187G>A ENST00000421865.2 + 2 286 c.237G>A c.(235-237)agG>agA p.R79R NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 79 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGCCTGTGAGGAACCCGCAGT 0.453000 24 4 0 0 0.004656 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178555107 178555107 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:178555107C>T ENST00000251582.7 - 17 2571 c.2470G>A c.(2470-2472)Gga>Aga p.G824R NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 824 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGGGTGTCTCCCACCGGGATG 0.577000 20 21 0 0 0.001523 0 0 FAM179B 23116 broad.mit.edu 37 14 45497485 45497485 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:45497485C>T ENST00000361462.2 + 10 3794 c.3611C>T c.(3610-3612)tCc>tTc p.S1204F KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.S1204F Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1204 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GAAAAAAATTCCTGGGAACGA 0.299000 27 66 0 0 0.008361 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581661 140581661 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140581661C>T ENST00000354757.3 + 1 2314 c.2314C>T c.(2314-2316)Cct>Tct p.P772S PCDHB11_ENST00000536699.1_Missense_Mutation_p.P407S NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 772 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCGGTTATCCCTAATATCCA 0.433000 17 32 0 0 0.004990 0 0 MYH7B 57644 broad.mit.edu 37 20 33581950 33581950 + Splice_Site SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:33581950G>A ENST00000262873.7 + 25 2664 c.2570_splice c.e25-1 p.D858_splice NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 816 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCTCCCTAGGGATGCGCTGTT 0.552000 71 78 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179569645 179569645 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:179569645C>T ENST00000589042.1 - 104 29877 c.29653G>A c.(29653-29655)Gaa>Aaa p.E9885K TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9568K|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8641K|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9568 Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATACAAGTTCCTCAAATTCC 0.308000 64 74 0 0 0.003610 0 0 ZDHHC11 79844 broad.mit.edu 37 5 840733 840733 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:840733G>A ENST00000283441.8 - 5 1044 c.661C>T c.(661-663)Ctc>Ttc p.L221F ZDHHC11_ENST00000424784.2_Missense_Mutation_p.L221F|ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.L8F NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 221 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) AACAGGGGGAGGAACAGCAGC 0.592000 89 242 0 0 0.003610 0 0 NCR2 9436 broad.mit.edu 37 6 41318535 41318535 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:41318535G>A ENST00000373089.5 + 5 852 c.764G>A c.(763-765)aGa>aAa p.R255K NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 255 cellular defense response integral to plasma membrane transmembrane receptor activity p.R255K(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) cctgtagagagagaaatatta 0.423000 16 27 0 0 0.003163 0 0 TRAV4 28689 broad.mit.edu 37 14 22205223 22205223 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:22205223C>T ENST00000390426.2 + 0 354 CCCCGGGTTTCCCTGAGCGAC 0.532000 10 19 0 0 0.001368 0 0 BTN2A2 10385 broad.mit.edu 37 6 26390244 26390244 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:26390244C>T ENST00000356709.4 + 5 847 c.736C>T c.(736-738)Ccc>Tcc p.P246S BTN2A2_ENST00000432533.2_Missense_Mutation_p.P152S|BTN2A2_ENST00000352867.2_Missense_Mutation_p.P130S|BTN2A2_ENST00000482536.1_Missense_Mutation_p.P36S|BTN2A2_ENST00000416795.2_Missense_Mutation_p.P246S|BTN2A2_ENST00000469230.1_Missense_Mutation_p.P246S NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 246 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 ATCCTTTATGCCCAGCGCATC 0.493000 51 102 0 0 0.003610 0 0 NFKBIL1 4795 broad.mit.edu 37 6 31525547 31525547 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:31525547C>T ENST00000376148.4 + 3 591 c.477C>T c.(475-477)gcC>gcT p.A159A NFKBIL1_ENST00000376145.4_Silent_p.A159A NM_005007.3 NP_004998.3 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 159 cytoplasmic sequestering of transcription factor protein binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 AAGATGATGCCTCCAAGGAGC 0.562000 28 52 0 0 0.008361 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45948962 45948962 + Silent SNP C C T rs138897549 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:45948962C>T ENST00000531526.1 + 11 1533 c.1422C>T c.(1420-1422)ttC>ttT p.F474F GYLTL1B_ENST00000529052.1_Silent_p.F443F|GYLTL1B_ENST00000536139.1_Silent_p.F443F|GYLTL1B_ENST00000401752.1_Silent_p.F474F|GYLTL1B_ENST00000389968.3_Silent_p.F201F|GYLTL1B_ENST00000325468.5_Silent_p.F474F NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 474 HF -> IS (in Ref. 5; AAG23791). muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) TCCTGCATTTCGTCGAGGCCT 0.617000 18 55 0 0 0.006122 0 0 SHC2 25759 broad.mit.edu 37 19 430738 430738 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:430738G>A ENST00000264554.6 - 9 1119 c.1120C>T c.(1120-1122)Cct>Tct p.P374S NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 374 CH1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTAGAGAAGGAGATGGGCCC 0.637000 17 14 0 0 0.001523 0 0 ARSJ 79642 broad.mit.edu 37 4 114824226 114824226 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:114824226C>T ENST00000315366.7 - 2 1870 c.1004G>A c.(1003-1005)gGa>gAa p.G335E ARSJ_ENST00000541197.1_Missense_Mutation_p.G335E NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 335 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) GTTACTCCCTCCTGCCGTAGG 0.463000 32 46 0 0 0.008361 0 0 SH3GL2 6456 broad.mit.edu 37 9 17747095 17747095 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:17747095G>A ENST00000380607.4 + 2 197 c.77G>A c.(76-78)gGa>gAa p.G26E SH3GL2_ENST00000537391.1_5'UTR NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 26 BAR.|Binds and tubulates liposomes (By similarity). axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) GGAGCTGAAGGAACCAAGCTA 0.358000 14 3 0 0 0.004007 0 0 RYR1 6261 broad.mit.edu 37 19 38959954 38959954 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:38959954C>T ENST00000355481.4 + 27 3697 c.3566C>T c.(3565-3567)cCc>cTc p.P1189L RYR1_ENST00000360985.3_Missense_Mutation_p.P1189L|RYR1_ENST00000359596.3_Missense_Mutation_p.P1189L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1189 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCTTCCTGCCCGTCTGCAGC 0.652000 17 57 0 0 0.004007 0 0 ZNF671 79891 broad.mit.edu 37 19 58238788 58238788 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:58238788G>A ENST00000317398.6 - 1 204 c.109C>T c.(109-111)Cct>Tct p.P37S ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.P37S NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P37A(1) kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCGCCATAGGACCGTGGGCG 0.687000 6 14 0 0 0.001168 0 0 MED25 81857 broad.mit.edu 37 19 50333362 50333362 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:50333362C>T ENST00000312865.6 + 7 759 c.706C>T c.(706-708)Cca>Tca p.P236S MED25_ENST00000538643.1_Intron NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 236 Pro-rich. P -> L (in Ref. 2; CAE84581 and 4; CAB66680). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) TGGCTCAGCCCCAGGCCCCCT 0.632000 24 103 0 0 0.005443 0 0 LILRA5 353514 broad.mit.edu 37 19 54818732 54818732 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:54818732C>T ENST00000301219.3 - 7 985 c.866G>A c.(865-867)aGc>aAc p.S289N LILRA5_ENST00000346508.3_Missense_Mutation_p.S277N NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 289 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCTTCTCTGGCTGTGCCAATC 0.522000 16 51 0 0 0.004007 0 0 GCG 2641 broad.mit.edu 37 2 163002103 163002103 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:163002103G>A ENST00000418842.2 - 4 593 c.339C>T c.(337-339)ggC>ggT p.G113G GCG_ENST00000375497.3_Silent_p.G113G NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 113 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) TGGCAGCTTGGCCTTCCAAAT 0.418000 121 74 0 0 0.003610 0 0 ABCA8 10351 broad.mit.edu 37 17 66890438 66890438 + Missense_Mutation SNP G G A rs143022668 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:66890438G>A ENST00000269080.2 - 21 2929 c.2792C>T c.(2791-2793)tCg>tTg p.S931L ABCA8_ENST00000586539.1_Missense_Mutation_p.S971L|ABCA8_ENST00000430352.2_Missense_Mutation_p.S971L NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 931 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GCATGCTAACGAAAAGCTGTA 0.313000 9 22 0 0 0.008291 0 0 NUTM1 256646 broad.mit.edu 37 15 34649450 34649450 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:34649450C>T ENST00000537011.1 + 8 3623 c.3241C>T c.(3241-3243)Cac>Tac p.H1081Y NUTM1_ENST00000438749.3_Missense_Mutation_p.H1071Y|NUTM1_ENST00000333756.4_Missense_Mutation_p.H1053Y NUT midline carcinoma, family member 1 GAGAGCATCCCACCTGCTCCC 0.567000 10 30 0 0 0.000978 0 0 DPYD 1806 broad.mit.edu 37 1 98187204 98187204 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:98187204C>T ENST00000370192.3 - 5 445 c.345G>A c.(343-345)atG>atA p.M115I DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_Missense_Mutation_p.M78I|DPYD_ENST00000306031.5_Missense_Mutation_p.M115I NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 115 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAGAAAATATCATCTTAGCAG 0.333000 16 53 0 0 0.004990 0 0 COL17A1 1308 broad.mit.edu 37 10 105810657 105810657 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:105810657G>A ENST00000353479.5 - 26 2331 c.2041C>T c.(2041-2043)Cct>Tct p.P681S COL17A1_ENST00000369733.3_Missense_Mutation_p.P681S NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 681 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGACCTACAGGACCTGCCCGG 0.532000 26 8 0 0 0.005443 0 0 EDNRA 1909 broad.mit.edu 37 4 148407088 148407088 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:148407088G>A ENST00000324300.5 + 2 770 c.255G>A c.(253-255)gtG>gtA p.V85V EDNRA_ENST00000506066.1_Silent_p.V85V|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.V85V|EDNRA_ENST00000358556.4_Silent_p.V85V NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 85 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) TTAACACTGTGATATCTTGTA 0.428000 29 52 0 0 0.001786 0 0 SLC30A10 55532 broad.mit.edu 37 1 220091757 220091757 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:220091757G>A ENST00000366926.3 - 3 959 c.798C>T c.(796-798)ccC>ccT p.P266P SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.P21P NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 266 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) CACTCTTCAGGGGAAGCACAT 0.507000 25 73 0 0 0.005443 0 0 LEPR 3953 broad.mit.edu 37 1 66067139 66067139 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:66067139C>T ENST00000349533.6 + 9 1244 c.1059C>T c.(1057-1059)atC>atT p.I353I LEPR_ENST00000371059.3_Silent_p.I353I|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Silent_p.I353I|LEPR_ENST00000371058.1_Silent_p.I353I|LEPR_ENST00000371060.3_Silent_p.I353I NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 353 Ig-like. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTCACTGCATCTATAAGAAGG 0.363000 37 24 0 0 0.005524 0 0 BBOX1 8424 broad.mit.edu 37 11 27114840 27114840 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:27114840G>A ENST00000263182.3 + 5 828 c.460G>A c.(460-462)Gga>Aga p.G154R RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.G154R|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000529202.1_Missense_Mutation_p.G154R|BBOX1_ENST00000528583.1_Missense_Mutation_p.G154R|RP11-1L12.3_ENST00000530430.1_RNA NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 154 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) AAGACTCACCGGAGCATCTGA 0.423000 35 43 0 0 0.004878 0 0 ELTD1 64123 broad.mit.edu 37 1 79392644 79392644 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:79392644G>A ENST00000370742.3 - 8 1073 c.1010C>T c.(1009-1011)tCa>tTa p.S337L NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 337 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CATTGAGACTGAAATTACTGA 0.333000 12 31 0 0 0.001368 0 0 RND1 27289 broad.mit.edu 37 12 49254822 49254822 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:49254822C>T ENST00000309739.5 - 4 541 c.411G>A c.(409-411)atG>atA p.M137I NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 137 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 GGGACAGCTCCATCAGAGTAC 0.562000 47 67 0 0 0.003610 0 0 SEMG1 6406 broad.mit.edu 37 20 43836379 43836379 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:43836379G>A ENST00000372781.3 + 2 498 c.441G>A c.(439-441)ggG>ggA p.G147G SEMG1_ENST00000244069.6_Silent_p.G147G NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) AAGATCAGGGGAATAGCCCAT 0.423000 17 39 0 0 0.004990 0 0 ETV6 2120 broad.mit.edu 37 12 12022615 12022615 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:12022615G>A ENST00000396373.4 + 5 995 c.721G>A c.(721-723)Gag>Aag p.E241K NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 241 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) GTCTCCCATGGAGAATAATCA 0.637000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 31 84 0 0 0.002445 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138719414 138719414 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:138719414G>A ENST00000389532.4 - 8 1126 c.1062C>T c.(1060-1062)caC>caT p.H354H CAMSAP1_ENST00000409386.3_Silent_p.H365H|CAMSAP1_ENST00000312405.6_Silent_p.H76H NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 354 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGCTCTTCTGGTGTAACACTG 0.527000 6 21 0 0 0.001168 0 0 IGLV6-57 28778 broad.mit.edu 37 22 22550605 22550605 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:22550605C>T ENST00000390285.2 + 0 368 ACTCTGCCTCCCTCACCATCT 0.542000 27 29 0 0 0.006320 0 0 KCNN2 3781 broad.mit.edu 37 5 113698918 113698918 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:113698918T>C ENST00000512097.3 + 2 1464 c.446T>C c.(445-447)aTg>aCg p.M149T KCNN2_ENST00000264773.3_Missense_Mutation_p.M149T|KCNN2_ENST00000507750.1_3'UTR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 149 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ATCGTGGTCATGGTCATCGAG 0.637000 13 13 0 0 0.001855 0 0 DMKN 93099 broad.mit.edu 37 19 36001153 36001153 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:36001153C>T ENST00000339686.3 - 6 1096 c.918_splice c.e6-1 p.G307_splice DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000467637.1_Splice_Site_p.G20_splice|DMKN_ENST00000440396.1_Splice_Site_p.G307_splice|DMKN_ENST00000488892.1_Splice_Site_p.G20_splice|DMKN_ENST00000424570.2_Splice_Site_p.G307_splice|DMKN_ENST00000447113.2_Splice_Site_p.G307_splice|DMKN_ENST00000436012.1_Splice_Site_p.G20_splice|DMKN_ENST00000458071.1_Splice_Site_p.G20_splice|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000414866.2_Splice_Site_p.G20_splice|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000451297.2_Splice_Site_p.G307_splice|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000392206.2_Splice_Site_p.G20_splice|DMKN_ENST00000429837.1_Splice_Site_p.G246_splice|DMKN_ENST00000419602.1_Splice_Site_p.G246_splice|DMKN_ENST00000480502.1_Splice_Site_p.G20_splice|DMKN_ENST00000418261.1_Splice_Site_p.G307_splice|DMKN_ENST00000443640.1_Splice_Site_p.G20_splice|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000602781.1_Splice_Site_p.G20_splice|DMKN_ENST00000402589.2_Splice_Site_p.G20_splice NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 307 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGTGCTGGATCCCTGCAGGGG 0.582000 OREG0025431 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 0 0 0.004672 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589325 140589325 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140589325C>T ENST00000239450.2 + 1 1035 c.846C>T c.(844-846)tcC>tcT p.S282S PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 282 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATACCTTTTCCCATGCCTCAG 0.408000 27 90 0 0 0.003954 0 0 TNRC6C 57690 broad.mit.edu 37 17 76045235 76045235 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:76045235C>T ENST00000335749.4 + 3 661 c.92C>T c.(91-93)cCt>cTt p.P31L TNRC6C_ENST00000541771.1_Missense_Mutation_p.P31L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P31L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P31L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P31L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P31L NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 31 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GTCCAAAGCCCTTCTAATCAG 0.562000 30 49 0 0 0.001786 0 0 PCNXL2 80003 broad.mit.edu 37 1 233152691 233152691 + Silent SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:233152691T>C ENST00000258229.8 - 27 5049 c.4815A>G c.(4813-4815)caA>caG p.Q1605Q PCNXL2_ENST00000344698.2_Silent_p.Q257Q NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1605 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTGCACAGTGTTGAATCCATT 0.433000 37 46 0 0 0.004878 0 0 FLG 2312 broad.mit.edu 37 1 152275800 152275800 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152275800C>T ENST00000368799.1 - 3 11597 c.11562G>A c.(11560-11562)agG>agA p.R3854R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3854 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGCTTCTCCTGGACCCCG 0.592000 Ichthyosis 83 216 0 0 0.003610 0 0 KCMF1 56888 broad.mit.edu 37 2 85270738 85270738 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:85270738G>A ENST00000409785.3 + 4 735 c.376G>A c.(376-378)Gat>Aat p.D126N NM_020122.4 NP_064507.3 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 126 intracellular ligase activity|zinc ion binding ovary(3) 3 TCATGTCACGGATGACTTTGC 0.383000 15 19 0 0 0.003163 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519888 113519888 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:113519888C>T ENST00000284601.3 - 4 1327 c.1259G>A c.(1258-1260)gGa>gAa p.G420E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 420 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACTAGTATCTCCCAATGATGG 0.398000 22 122 0 0 0.002299 0 0 MYO19 80179 broad.mit.edu 37 17 34866603 34866603 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:34866603G>A ENST00000431794.3 - 13 1661 c.1139C>T c.(1138-1140)gCc>gTc p.A380V MYO19_ENST00000268852.9_Missense_Mutation_p.A380V NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 380 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GATCAGTTTGGCCAGGCAGTC 0.607000 10 4 0 0 0.006214 0 0 SMC1A 8243 broad.mit.edu 37 X 53436194 53436194 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:53436194G>A ENST00000322213.4 - 9 1471 c.1344C>T c.(1342-1344)tcC>tcT p.S448S SMC1A_ENST00000375340.6_Silent_p.S214S NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 448 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 GCTCTTCTAGGGACTGCCTAC 0.542000 9 0 0 0 0.006214 0 0 PLCB2 5330 broad.mit.edu 37 15 40599844 40599844 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:40599844G>A ENST00000260402.3 - 1 279 c.30C>T c.(28-30)ccC>ccT p.P10P PLCB2_ENST00000557821.1_Silent_p.P10P|PLCB2_ENST00000543785.2_Silent_p.P10P|PLCB2_ENST00000456256.2_Silent_p.P10P NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 10 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCACCTTGGGGGGCAGCAGGA 0.607000 19 26 0 0 0.002299 0 0 TCEA3 6920 broad.mit.edu 37 1 23724446 23724446 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:23724446G>A ENST00000450454.2 - 6 552 c.446C>T c.(445-447)tCa>tTa p.S149L NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 149 Ser-rich. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) GCTGCTGTTTGATCTGAGGAT 0.458000 12 19 0 0 0.001855 0 0 HAS1 3036 broad.mit.edu 37 19 52222590 52222590 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:52222590G>A ENST00000540069.2 - 2 628 c.568C>T c.(568-570)Cct>Tct p.P190S HAS1_ENST00000601714.1_Missense_Mutation_p.P198S|HAS1_ENST00000594621.1_Missense_Mutation_p.P45S|HAS1_ENST00000222115.1_Missense_Mutation_p.P191S Q92839 HAS1_HUMAN hyaluronan synthase 1 191 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AGCCGCCCAGGATCCTCCGCC 0.716000 4 13 0 0 0.000248 0 0 PDIA4 9601 broad.mit.edu 37 7 148702402 148702402 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:148702402G>A ENST00000286091.4 - 9 1585 c.1353C>T c.(1351-1353)gcC>gcT p.A451A NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 451 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CGTCCGCAATGGCAAAGGTGT 0.587000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 90 50 0 0 0.003610 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21427461 21427461 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:21427461C>T ENST00000307378.6 - 15 2455 c.1735G>A c.(1735-1737)Gga>Aga p.G579R SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G447R|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G579R|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G447R NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 579 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTCAAAGTTCCCCAGTGTAAA 0.358000 34 51 0 0 0.002836 0 0 C15orf27 123591 broad.mit.edu 37 15 76496210 76496210 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:76496210G>A ENST00000388942.3 + 11 1426 c.1150G>A c.(1150-1152)Gcc>Acc p.A384T NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 384 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TGGCACCAGCGCCACCTCGGA 0.632000 21 48 0 0 0.008871 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475519 140475519 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140475519G>A ENST00000194155.4 + 1 1293 c.1145G>A c.(1144-1146)aGg>aAg p.R382K NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 382 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACAACGGAAGGATGGTGTGC 0.473000 7 31 0 0 0.001984 0 0 PPEF2 5470 broad.mit.edu 37 4 76794331 76794331 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:76794331G>A ENST00000286719.7 - 12 1811 c.1455C>T c.(1453-1455)atC>atT p.I485I NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 485 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CATGTGAACGGATCAGGAATT 0.478000 34 51 0 0 0.002836 0 0 GIPC1 10755 broad.mit.edu 37 19 14589320 14589320 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:14589320G>A ENST00000393033.4 - 9 1179 c.910C>T c.(910-912)Ctg>Ttg p.L304L GIPC1_ENST00000586027.1_Silent_p.L304L|GIPC1_ENST00000591349.1_Silent_p.L207L|GIPC1_ENST00000393028.1_Silent_p.L207L|GIPC1_ENST00000393029.3_Silent_p.L207L|GIPC1_ENST00000345425.2_Silent_p.L304L NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 304 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 CGTTCGTCCAGGGCCTCGGCC 0.622000 21 18 0 0 0.008871 0 0 HECTD4 283450 broad.mit.edu 37 12 112616865 112616865 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:112616865G>A ENST00000550722.1 - 64 11190 c.10795C>T c.(10795-10797)Cca>Tca p.P3599S HECTD4_ENST00000430131.2_Missense_Mutation_p.P3323S|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3573S NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TTGGGCTTTGGCACGCCATAC 0.642000 9 27 0 0 0.008291 0 0 FOXK2 3607 broad.mit.edu 37 17 80529660 80529660 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:80529660C>T ENST00000335255.5 + 4 997 c.823C>T c.(823-825)Ccc>Tcc p.P275S NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 275 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TACGATGGCTCCCGACAAACA 0.443000 15 22 0 0 0.004007 0 0 FCRL6 343413 broad.mit.edu 37 1 159779367 159779367 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:159779367C>T ENST00000321935.6 + 6 887 c.801C>T c.(799-801)tcC>tcT p.S267S FCRL6_ENST00000339348.5_Silent_p.S260S|FCRL6_ENST00000368106.3_Silent_p.S260S|FCRL6_ENST00000392235.3_Silent_p.S165S Q6DN72 FCRL6_HUMAN Fc receptor-like 6 260 Ig-like C2-type 3. integral to membrane p.S260F(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) GAACCACCTCCCTCCTCTTCC 0.557000 18 48 0 0 0.007413 0 0 ACOT11 26027 broad.mit.edu 37 1 55063070 55063070 + Missense_Mutation SNP T T G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:55063070T>G ENST00000371316.3 + 7 828 c.746T>G c.(745-747)gTg>gGg p.V249G ACOT11_ENST00000343744.2_Missense_Mutation_p.V249G|ACOT11_ENST00000481208.1_3'UTR NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 249 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 ATGGAGAATGTGGCCACCATT 0.632000 8 9 0 0 0.004482 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965629 35965629 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:35965629C>T ENST00000274278.3 - 4 1059 c.702G>A c.(700-702)agG>agA p.R234R UGT3A1_ENST00000507113.1_Silent_p.R200R|UGT3A1_ENST00000503189.1_Silent_p.R234R|UGT3A1_ENST00000333811.4_Silent_p.R180R|UGT3A1_ENST00000513233.1_Intron NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 234 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACAAAACTGGCCTAGAGCCTT 0.433000 34 29 0 0 0.005524 0 0 ZNF619 285267 broad.mit.edu 37 3 40529712 40529712 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:40529712C>T ENST00000447116.2 + 6 2138 c.1831C>T c.(1831-1833)Cct>Tct p.P611S ZNF619_ENST00000314686.5_Missense_Mutation_p.P555S|ZNF619_ENST00000432264.2_Missense_Mutation_p.P571S|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.P611S|ZNF619_ENST00000456778.1_Missense_Mutation_p.P527S|ZNF619_ENST00000522736.1_Missense_Mutation_p.P562S|ZNF619_ENST00000429348.2_Missense_Mutation_p.P571S NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 611 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GAGCCCGAATCCTTTGTCTCA 0.473000 24 66 0 0 0.003954 0 0 C5 727 broad.mit.edu 37 9 123780002 123780002 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:123780002G>A ENST00000223642.1 - 13 1664 c.1635C>T c.(1633-1635)atC>atT p.I545I NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 545 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CTCCTGTGACGATGTAATAGA 0.398000 22 12 0 0 0.002780 0 0 C4orf40 401137 broad.mit.edu 37 4 71024285 71024285 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:71024285C>T ENST00000344526.5 + 3 505 c.316C>T c.(316-318)Cct>Tct p.P106S C4orf40_ENST00000502294.1_Missense_Mutation_p.P106S|C4orf40_ENST00000502441.2_Intron NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 106 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCCTCTCCCTCCTAGGGGTTT 0.527000 109 149 0 0 0.003610 0 0 ATHL1 80162 broad.mit.edu 37 11 293412 293412 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:293412C>T ENST00000409548.2 + 9 1505 c.1390C>T c.(1390-1392)Ccc>Tcc p.P464S ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409479.1_Missense_Mutation_p.P491S NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 464 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) TCTTCCCATCCCCAGCCAGTG 0.627000 20 32 0 0 0.007413 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901663 160901663 + Nonsense_Mutation SNP C C A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:160901663C>A ENST00000283243.7 - 2 321 c.115G>T c.(115-117)Gga>Tga p.G39* PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.G39* NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 39 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ACAAATATTCCTTTATCTGAA 0.378000 10 26 2.17888e-05 2.55533e-05 0.006214 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 47 25 0 0 0.003610 0 0 KCNS3 3790 broad.mit.edu 37 2 18113407 18113407 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:18113407C>T ENST00000403915.1 + 3 1583 c.1132C>T c.(1132-1134)Ccg>Tcg p.P378S KCNS3_ENST00000304101.4_Missense_Mutation_p.P378S|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 378 Segment H5 (pore-forming) (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGACACCCACCCGGTCACCTT 0.557000 30 28 0 0 0.007291 0 0 CDK18 5129 broad.mit.edu 37 1 205492667 205492667 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:205492667C>T ENST00000360066.2 + 3 488 c.187C>T c.(187-189)Cca>Tca p.P63S CDK18_ENST00000506784.1_Missense_Mutation_p.P63S|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Missense_Mutation_p.P63S NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 61 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CACCTTCTCCCCAACAGACAG 0.667000 8 2 0 0 0.008291 0 0 OFCC1 266553 broad.mit.edu 37 6 9933174 9933174 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:9933174C>T ENST00000316020.6 - 4 288 c.289G>A c.(289-291)Gaa>Aaa p.E97K OFCC1_ENST00000472329.1_5'UTR orofacial cleft 1 candidate 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1) 11 Ovarian(93;0.0473)|Breast(50;0.201) all_hematologic(90;0.124) TCTCTATCTTCTTTAACTAGA 0.383000 77 118 0 0 0.003610 0 0 C6 729 broad.mit.edu 37 5 41186306 41186306 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:41186306G>A ENST00000263413.3 - 6 856 c.592C>T c.(592-594)Cat>Tat p.H198Y C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Missense_Mutation_p.H198Y NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 198 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCCAGAAAATGAAACCTAGAA 0.353000 10 29 0 0 0.008291 0 0 OR5R1 219479 broad.mit.edu 37 11 56184981 56184981 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:56184981G>A ENST00000312253.1 - 1 727 c.728C>T c.(727-729)tCc>tTc p.S243F NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S243F(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) CACCATATGGGAGCCACAGGT 0.458000 45 83 0 0 0.003610 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 6 57 0 0 0.001168 0 0 TRIO 7204 broad.mit.edu 37 5 14280524 14280524 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:14280524C>T ENST00000344204.4 + 3 350 c.326C>T c.(325-327)tCc>tTc p.S109F TRIO_ENST00000509967.2_Missense_Mutation_p.S60F|TRIO_ENST00000537187.1_Missense_Mutation_p.S109F NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 109 CRAL-TRIO. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGACTCATTTCCTATCTAGCC 0.458000 12 35 0 0 0.003163 0 0 NCAPG 64151 broad.mit.edu 37 4 17829963 17829963 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:17829963C>T ENST00000251496.2 + 12 1892 c.1716C>T c.(1714-1716)tcC>tcT p.S572S NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 572 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) AGCAGATGTCCATTTCAACAG 0.343000 22 44 0 0 0.004656 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758752 62758752 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:62758752C>T ENST00000331425.6 - 0 125 NR_003952.1 ATAGCTATGTCTCTGAATGTC 0.403000 13 75 0 0 0.001882 0 0 CMIP 80790 broad.mit.edu 37 16 81730266 81730266 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:81730266C>T ENST00000537098.3 + 14 1704 c.1632C>T c.(1630-1632)gcC>gcT p.A544A CMIP_ENST00000398040.4_Silent_p.A391A|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.A450A NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 510 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 AGCTGTTCGCCAGCATGGTAC 0.657000 25 15 0 0 0.006320 0 0 NPAP1 23742 broad.mit.edu 37 15 24922182 24922182 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:24922182A>G ENST00000329468.2 + 1 1642 c.1168A>G c.(1168-1170)Aca>Gca p.T390A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGAGACCATGACAAACAGCAG 0.537000 8 24 0 0 0.004482 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060252 35060252 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:35060252C>T ENST00000373913.3 + 3 612 c.132C>T c.(130-132)gcC>gcT p.A44A DLGAP4_ENST00000339266.5_Silent_p.A44A|DLGAP4_ENST00000373907.2_Silent_p.A44A|DLGAP4_ENST00000401952.2_Silent_p.A44A Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 44 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCCGCGAGGCCCGCTTCCCCG 0.672000 20 32 0 0 0.001882 0 0 NEU3 10825 broad.mit.edu 37 11 74716573 74716573 + Missense_Mutation SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:74716573G>T ENST00000294064.4 + 3 1349 c.422G>T c.(421-423)cGg>cTg p.R141L NEU3_ENST00000532963.1_Silent_p.A70A|NEU3_ENST00000531509.1_Missense_Mutation_p.R141L|NEU3_ENST00000529024.1_Silent_p.A70A|NEU3_ENST00000544263.1_Missense_Mutation_p.R108L|NEU3_ENST00000545272.1_Missense_Mutation_p.R32L NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 141 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 ATCTGTGTGCGGGGCCATGTC 0.547000 37 40 1.06647e-15 1.26397e-15 0.003755 1 0 SALL1 6299 broad.mit.edu 37 16 51171209 51171209 + Silent SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:51171209A>G ENST00000440970.1 - 3 3929 c.3498T>C c.(3496-3498)atT>atC p.I1166I SALL1_ENST00000251020.4_Silent_p.I1263I|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.I86I NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1263 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGCTTCCAGGAATTGGAGGGA 0.597000 35 36 0 0 0.003755 0 0 F13B 2165 broad.mit.edu 37 1 197024856 197024856 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:197024856G>A ENST00000367412.1 - 8 1386 c.1343C>T c.(1342-1344)cCt>cTt p.P448L NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 448 Sushi 7. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CAAGCAAACAGGTGGGGATGA 0.353000 17 47 0 0 0.002299 0 0 PADI3 51702 broad.mit.edu 37 1 17599850 17599850 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:17599850G>A ENST00000375460.3 + 10 1103 c.1063G>A c.(1063-1065)Ggc>Agc p.G355S NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 355 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GATGGAGCTGGGCTACGTTCA 0.597000 23 37 0 0 0.008361 0 0 COL24A1 255631 broad.mit.edu 37 1 86591026 86591026 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:86591026C>T ENST00000370571.2 - 3 1359 c.993G>A c.(991-993)ggG>ggA p.G331G COL24A1_ENST00000436319.1_Silent_p.G331G NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 331 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TGGCCTGAATCCCATGGTTTG 0.418000 12 43 0 0 0.000978 0 0 PRMT2 3275 broad.mit.edu 37 21 48064320 48064320 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:48064320C>T ENST00000397637.1 + 4 1201 c.247C>T c.(247-249)Cat>Tat p.H83Y PRMT2_ENST00000458387.2_Missense_Mutation_p.H83Y|PRMT2_ENST00000397638.2_Missense_Mutation_p.H83Y|PRMT2_ENST00000291705.6_Missense_Mutation_p.H83Y|PRMT2_ENST00000334494.4_Missense_Mutation_p.H83Y|PRMT2_ENST00000451211.2_Missense_Mutation_p.H83Y|PRMT2_ENST00000440086.1_Missense_Mutation_p.H83Y|PRMT2_ENST00000355680.3_Missense_Mutation_p.H83Y|PRMT2_ENST00000397628.1_Missense_Mutation_p.H83Y P55345 ANM2_HUMAN protein arginine methyltransferase 2 83 Interaction with RB1 (By similarity).|SH3. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) TCCGGCAAACCATGTGGGGAA 0.512000 57 21 0 0 0.003610 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105883952 105883952 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:105883952G>A ENST00000393359.2 - 12 2897 c.2471C>T c.(2470-2472)cCc>cTc p.P824L TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P824L Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 824 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CTCACAAAAGGGATTTTGGCA 0.473000 21 46 0 0 0.002299 0 0 LAMB4 22798 broad.mit.edu 37 7 107704409 107704409 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:107704409G>A ENST00000388781.3 - 22 2941 c.2858C>T c.(2857-2859)tCt>tTt p.S953F LAMB4_ENST00000388780.3_Missense_Mutation_p.S953F|LAMB4_ENST00000205386.4_Missense_Mutation_p.S953F NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 953 Laminin EGF-like 9. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GAAACCAGTAGAGCATTCTCC 0.473000 31 75 0 0 0.002096 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144863441 144863441 + Splice_Site SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:144863441G>A ENST00000369359.4 - 40 6408 c.6368_splice c.e40-1 p.L2124_splice PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Splice_Site_p.L2073_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.L1882_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.L1988_splice|PDE4DIP_ENST00000369356.4_Splice_Site_p.L1988_splice|RP4-791M13.4_ENST00000532137.1_RNA Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1988 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTGTGCTGCAGTCTGACCAGG 0.527000 T PDGFRB MPD 57 224 0 0 0.003610 0 0 ALG5 29880 broad.mit.edu 37 13 37567800 37567800 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:37567800G>A ENST00000239891.3 - 4 361 c.295C>T c.(295-297)Cct>Tct p.P99S ALG5_ENST00000413537.2_Missense_Mutation_p.P99S|ALG5_ENST00000443765.1_Intron|ALG5_ENST00000496689.1_5'UTR NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 99 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) GTGAACGCAGGATCTCGTTTC 0.313000 46 55 0 0 0.003610 0 0 HS6ST3 266722 broad.mit.edu 37 13 97484772 97484772 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:97484772G>A ENST00000376705.2 + 2 760 c.736G>A c.(736-738)Gat>Aat p.D246N NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 246 3'-phosphate binding (Potential). integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) AATGTTACGGGATCCAGTGTC 0.418000 21 20 0 0 0.002780 0 0 ANO10 55129 broad.mit.edu 37 3 43591317 43591317 + Silent SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:43591317A>G ENST00000292246.3 - 11 1862 c.1692T>C c.(1690-1692)gtT>gtC p.V564V ANO10_ENST00000451430.2_Silent_p.V453V|ANO10_ENST00000396091.3_Silent_p.V498V|ANO10_ENST00000350459.4_Silent_p.V374V|ANO10_ENST00000414522.2_Silent_p.V564V NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 564 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 CCACAGATATAACACTCATCG 0.358000 11 34 0 0 0.001368 0 0 SCN11A 11280 broad.mit.edu 37 3 38927694 38927694 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:38927694C>T ENST00000450244.1 - 16 3069 c.2871G>A c.(2869-2871)acG>acA p.T957T SCN11A_ENST00000302328.3_Silent_p.T957T|SCN11A_ENST00000444237.2_Silent_p.T957T|SCN11A_ENST00000456224.3_Intron Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 957 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTCTCTGGCTCGTGGGCTTCT 0.443000 29 34 0 0 0.001786 0 0 DNAH8 1769 broad.mit.edu 37 6 38906668 38906668 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:38906668G>A ENST00000359357.3 + 77 11514 c.11260G>A c.(11260-11262)Gaa>Aaa p.E3754K RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3971K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3718K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGCCTATACGAAAACCACAA 0.373000 10 42 0 0 0.000978 0 0 PYGO2 90780 broad.mit.edu 37 1 154932091 154932091 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:154932091G>A ENST00000368457.2 - 3 556 c.385C>T c.(385-387)Ctc>Ttc p.L129F PYGO2_ENST00000368456.1_Missense_Mutation_p.L92F NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 129 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCGACGGAGTGGCTGGGGG 0.672000 45 35 0 0 0.002852 0 0 PCNXL2 80003 broad.mit.edu 37 1 233122064 233122064 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:233122064C>T ENST00000258229.8 - 33 6248 c.6014G>A c.(6013-6015)gGc>gAc p.G2005D PCNXL2_ENST00000344698.2_Missense_Mutation_p.G657D NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 2005 Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ACTCAGGTGGCCGGTGGTGGT 0.687000 3 6 0 0 0.004672 0 0 PCDH15 65217 broad.mit.edu 37 10 55581797 55581797 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:55581797C>T ENST00000361849.3 - 34 6089 c.5695G>A c.(5695-5697)Gct>Act p.A1899T PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.A751T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1874T|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1857T|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1897T|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1828T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1894T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1897 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TACATGTTAGCTACTGATTTT 0.368000 HNSCC(58;0.16) 69 19 0 0 0.003610 0 0 ILDR1 286676 broad.mit.edu 37 3 121720271 121720271 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:121720271C>T ENST00000273691.3 - 5 635 c.530G>A c.(529-531)gGa>gAa p.G177E ILDR1_ENST00000344209.5_Missense_Mutation_p.G177E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.G189E|ILDR1_ENST00000393631.1_Intron NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 177 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GAGGAGGGCTCCCAGGATGAT 0.547000 6 26 0 0 0.001168 0 0 AUTS2 26053 broad.mit.edu 37 7 70255264 70255264 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:70255264C>T ENST00000342771.4 + 19 3383 c.3062C>T c.(3061-3063)tCg>tTg p.S1021L AUTS2_ENST00000406775.2_Missense_Mutation_p.S997L NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1021 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCCCTGGCCTCGATGCCCATG 0.682000 5 23 0 0 0.000602 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965889 35965889 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:35965889C>T ENST00000274278.3 - 4 799 c.442G>A c.(442-444)Gat>Aat p.D148N UGT3A1_ENST00000507113.1_Missense_Mutation_p.D114N|UGT3A1_ENST00000503189.1_Missense_Mutation_p.D148N|UGT3A1_ENST00000333811.4_Missense_Mutation_p.D94N|UGT3A1_ENST00000513233.1_Intron NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 148 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAACAGAAATCAAATGCTTCA 0.393000 10 31 0 0 0.008291 0 0 MAPK7 5598 broad.mit.edu 37 17 19284080 19284080 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:19284080C>T ENST00000308406.5 + 4 944 c.558C>T c.(556-558)tcC>tcT p.S186S MAPK7_ENST00000395604.3_Silent_p.S186S|MAPK7_ENST00000395602.4_Silent_p.S186S|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Silent_p.S47S NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 186 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) TGAAGCCCTCCAACCTATTGG 0.552000 10 11 0 0 0.006214 0 0 WDR1 9948 broad.mit.edu 37 4 10105519 10105519 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:10105519C>T ENST00000382452.2 - 3 512 c.e3+1 WDR1_ENST00000382451.2_Intron|WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Splice_Site NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCATACAGTACCTCCGGAGGC 0.642000 4 6 0 0 0.000602 0 0 PM20D1 148811 broad.mit.edu 37 1 205813990 205813990 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:205813990C>T ENST00000367136.4 - 4 569 c.525G>A c.(523-525)agG>agA p.R175R PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 175 extracellular region metal ion binding|peptidase activity p.R175S(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GGATGTACTTCCTGATCAGCA 0.493000 49 36 0 0 0.003610 0 0 CLIP4 79745 broad.mit.edu 37 2 29356623 29356623 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:29356623C>T ENST00000320081.5 + 5 725 c.470C>T c.(469-471)gCt>gTt p.A157V CLIP4_ENST00000401605.1_Missense_Mutation_p.A157V|CLIP4_ENST00000401617.2_Missense_Mutation_p.A50V|CLIP4_ENST00000404424.1_Missense_Mutation_p.A157V NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 157 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) TTGCATTATGCTGCTTATTTT 0.368000 13 27 0 0 0.001855 0 0 COPB2 9276 broad.mit.edu 37 3 139092233 139092233 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:139092233T>C ENST00000333188.5 - 9 1097 c.916A>G c.(916-918)Atg>Gtg p.M306V COPB2_ENST00000507777.1_Missense_Mutation_p.M277V NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 306 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TCCATGGACATGGCAGGTTCC 0.398000 13 37 0 0 0.003163 0 0 ZNF485 220992 broad.mit.edu 37 10 44112785 44112785 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:44112785C>T ENST00000361807.3 + 5 1488 c.1294C>T c.(1294-1296)Cat>Tat p.H432Y ZNF485_ENST00000374437.2_Missense_Mutation_p.H341Y|ZNF485_ENST00000374435.3_Missense_Mutation_p.H432Y NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 TAAGAAAATTCATAATAAAGA 0.358000 20 8 0 0 0.001523 0 0 DUOX2 50506 broad.mit.edu 37 15 45399580 45399580 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:45399580G>A ENST00000389039.6 - 14 2041 c.1656C>T c.(1654-1656)ccC>ccT p.P552P DUOX2_ENST00000603300.1_Silent_p.P552P Q9NRD8 DUOX2_HUMAN dual oxidase 2 552 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GCAGGGCACTGGGGTCAATGT 0.517000 18 46 0 0 0.001523 0 0 DOK5 55816 broad.mit.edu 37 20 53208205 53208205 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:53208205G>A ENST00000262593.5 + 5 810 c.460G>A c.(460-462)Gaa>Aaa p.E154K DOK5_ENST00000395939.1_Missense_Mutation_p.E46K NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 154 IRS-type PTB. insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) TGTACATGGCGAATGTGCCTT 0.438000 51 71 0 0 0.003610 0 0 TOM1 10043 broad.mit.edu 37 22 35729441 35729441 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:35729441C>T ENST00000411850.1 + 10 1103 c.978C>T c.(976-978)ggC>ggT p.G326G TOM1_ENST00000447733.1_Silent_p.G293G|TOM1_ENST00000449058.2_Silent_p.G326G|TOM1_ENST00000436462.2_Silent_p.G288G|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000425375.1_Silent_p.G281G NM_001135732.1 NP_001129204.1 O60784 TOM1_HUMAN target of myb1 (chicken) 326 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 TCGACATGGGCCCTGACCCAG 0.607000 16 35 0 0 0.001523 0 0 NEB 4703 broad.mit.edu 37 2 152534256 152534256 + Nonsense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:152534256C>T ENST00000397345.3 - 34 3799 c.3597G>A c.(3595-3597)tgG>tgA p.W1199* NEB_ENST00000409198.1_Nonsense_Mutation_p.W1199*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W1199*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W1199*|NEB_ENST00000604864.1_Nonsense_Mutation_p.W1199*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W1199* NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1199 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCCTTTCATCCAGTTGTTGT 0.458000 71 175 0 0 0.003610 0 0 HCN4 10021 broad.mit.edu 37 15 73621928 73621928 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:73621928G>A ENST00000261917.3 - 4 2569 c.1576C>T c.(1576-1578)Cag>Tag p.Q526* NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 526 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TCCTGGTACTGGCGCCGGGAG 0.642000 29 12 0 0 0.002096 0 0 SYCP1 6847 broad.mit.edu 37 1 115537360 115537360 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:115537360G>A ENST00000369522.3 + 31 2985 c.2745G>A c.(2743-2745)agG>agA p.R915R SYCP1_ENST00000369518.1_Silent_p.R915R|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 915 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CACTGTATAGGAACAATAATC 0.279000 16 12 0 0 0.006122 0 0 PTPRT 11122 broad.mit.edu 37 20 40714436 40714436 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:40714436C>T ENST00000373198.3 - 29 4205 c.3970G>A c.(3970-3972)Gag>Aag p.E1324K PTPRT_ENST00000356100.2_Missense_Mutation_p.E1311K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E1292K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E1312K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E1301K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E1302K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E1305K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1302 Tyrosine-protein phosphatase 2. R -> L (in a lung cancer; reduced phosphatase activity). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAGACGAACTCCACCTGGATG 0.552000 47 57 0 0 0.003610 0 0 DCDC2 51473 broad.mit.edu 37 6 24205394 24205394 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:24205394G>A ENST00000378450.3 - 1 137 c.118C>T c.(118-120)Cca>Tca p.P40S DCDC2_ENST00000378454.3_Intron Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 68 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) CTGAATGCTGGAATTACAATC 0.413000 50 46 0 0 0.003610 0 0 TP63 8626 broad.mit.edu 37 3 189587118 189587118 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:189587118C>T ENST00000264731.3 + 9 1224 c.1135C>T c.(1135-1137)Cgt>Tgt p.R379C TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C|TP63_ENST00000392460.3_Missense_Mutation_p.R379C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C|TP63_ENST00000437221.1_Missense_Mutation_p.R285C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 379 Interaction with HIPK2. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R379C(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACCAGCGTTTCGTCAGAACAC 0.363000 HNSCC(45;0.13) 12 28 0 0 0.003163 0 0 PCLO 27445 broad.mit.edu 37 7 82784725 82784725 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:82784725G>A ENST00000423517.2 - 2 1569 c.1232C>T c.(1231-1233)cCa>cTa p.P411L PCLO_ENST00000333891.8_Missense_Mutation_p.P411L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 362 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGCTGGGTTGGAGGCTTTGC 0.577000 97 64 0 0 0.003610 0 0 PPP1R18 170954 broad.mit.edu 37 6 30653724 30653724 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:30653724G>A ENST00000274853.3 - 1 1948 c.72C>T c.(70-72)ggC>ggT p.G24G PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Silent_p.G24G NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 24 cytoplasm|cytoskeleton actin binding CTTTCTCTCGGCCTCGAACGG 0.677000 90 105 0 0 0.003610 0 0 OR2M2 391194 broad.mit.edu 37 1 248343915 248343915 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248343915C>T ENST00000359682.2 + 1 628 c.628C>T c.(628-630)Cct>Tct p.P210S NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCTTGTTTTCCCTGTTGCAAT 0.423000 84 143 0 0 0.003610 0 0 TENM1 10178 broad.mit.edu 37 X 123680790 123680790 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:123680790C>T ENST00000422452.2 - 15 2648 c.2585G>A c.(2584-2586)cGa>cAa p.R862Q TENM1_ENST00000371130.3_Missense_Mutation_p.R862Q NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GAATTTGATTCGATCATAAAA 0.408000 48 7 0 0 0.003214 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44217799 44217799 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:44217799A>G ENST00000371554.1 + 5 770 c.556A>G c.(556-558)Aaa>Gaa p.K186E HSP90AB1_ENST00000371646.5_Missense_Mutation_p.K186E|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.K186E P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 186 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCTCCATCTTAAAGAAGATCA 0.443000 22 46 0 0 0.008361 0 0 PARP9 83666 broad.mit.edu 37 3 122274841 122274841 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:122274841G>A ENST00000462315.1 - 4 470 c.177C>T c.(175-177)acC>acT p.T59T PARP9_ENST00000471785.1_Silent_p.T59T|PARP9_ENST00000360356.2_Silent_p.T94T|PARP9_ENST00000477522.2_Silent_p.T59T|PARP9_ENST00000492382.1_Intron NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 94 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GAGAGACCAGGGTAGAGATAC 0.413000 16 19 0 0 0.003163 0 0 ADAM12 8038 broad.mit.edu 37 10 127753538 127753538 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:127753538G>A ENST00000368679.4 - 14 1764 c.1455C>T c.(1453-1455)tcC>tcT p.S485S ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Silent_p.S485S NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 485 Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) AGGAGTTGCTGGAGTCCCTGC 0.597000 7 4 0 0 0.001984 0 0 CCDC59 29080 broad.mit.edu 37 12 82751030 82751030 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:82751030C>T ENST00000256151.7 - 2 584 c.173G>A c.(172-174)cGa>cAa p.R58Q CCDC59_ENST00000548126.1_5'UTR NM_014167.4 NP_054886.2 Q9P031 TAP26_HUMAN coiled-coil domain containing 59 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2) 5 CAGTTTTCTTCGAAAAGCAAA 0.358000 20 27 0 0 0.001523 0 0 OR14C36 127066 broad.mit.edu 37 1 248512703 248512703 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248512703C>T ENST00000317861.1 + 1 627 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GCGGCTGTTTCATCTTTATCA 0.502000 43 92 0 0 0.003214 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799182 16799182 + Nonstop_Mutation SNP G G C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:16799182G>C ENST00000187762.2 + 6 991 c.900G>C c.(898-900)taG>taC p.*300Y NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 0 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 AGGCGGATTAGGGGGTGGCCC 0.642000 11 22 0 0 0.000978 0 0 KLF4 9314 broad.mit.edu 37 9 110249674 110249674 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:110249674A>G ENST00000374672.4 - 3 1474 c.1001T>C c.(1000-1002)cTg>cCg p.L334P NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 334 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 AGGAAGCGGCAGGGCAGGGTG 0.662000 5 0 0 0 0.000602 0 0 HAS3 3038 broad.mit.edu 37 16 69148696 69148696 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:69148696G>A ENST00000306560.1 + 4 1345 c.1189G>A c.(1189-1191)Gtt>Att p.V397I HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.V397I NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 397 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) CATTGCCACGGTTATACAGCT 0.547000 24 112 0 0 0.006320 0 0 SLC38A1 81539 broad.mit.edu 37 12 46591720 46591720 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:46591720C>T ENST00000398637.5 - 15 1940 c.1246G>A c.(1246-1248)Gat>Aat p.D416N SLC38A1_ENST00000549049.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D416N NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 416 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CCAAAAATATCCTTCATGGAG 0.383000 19 21 0 0 0.001523 0 0 TBX4 9496 broad.mit.edu 37 17 59560639 59560639 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:59560639G>A ENST00000393853.4 + 9 1566 c.1403G>A c.(1402-1404)gGa>gAa p.G468E TBX4_ENST00000240335.1_Missense_Mutation_p.G467E|TBX4_ENST00000589449.1_3'UTR P57082 TBX4_HUMAN T-box 4 467 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CAGCCACCAGGAAATGCCCAC 0.647000 38 54 0 0 0.006230 0 0 FGGY 55277 broad.mit.edu 37 1 60091681 60091681 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:60091681C>T ENST00000371218.4 + 10 1217 c.1033C>T c.(1033-1035)Cat>Tat p.H345Y FGGY_ENST00000303721.7_Missense_Mutation_p.H345Y|FGGY_ENST00000371212.1_Missense_Mutation_p.H257Y|FGGY_ENST00000371210.1_Missense_Mutation_p.H46Y|FGGY_ENST00000474476.1_3'UTR NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 345 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GGTACAAGGCCATGCTGCTTT 0.348000 6 29 0 0 0.003080 0 0 ANAPC1 64682 broad.mit.edu 37 2 112592251 112592251 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:112592251C>T ENST00000341068.3 - 19 3086 c.2314G>A c.(2314-2316)Gag>Aag p.E772K NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 772 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 AACTTAAGCTCCTCATACACA 0.378000 9 25 0 0 0.006214 0 0 FAT3 120114 broad.mit.edu 37 11 92538510 92538510 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:92538510G>A ENST00000298047.6 + 10 9105 c.9088G>A c.(9088-9090)Gat>Aat p.D3030N FAT3_ENST00000525166.1_Missense_Mutation_p.D2880N|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3030 Cadherin 28. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCAGTGTGTGATCAGGTGAG 0.423000 TCGA Ovarian(4;0.039) 152 40 0 0 0.003610 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55052300 55052300 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:55052300C>T ENST00000474759.1 + 35 2991 c.2943C>T c.(2941-2943)acC>acT p.T981T CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.T981T|CACNA2D3_ENST00000415676.2_Silent_p.T981T|CACNA2D3_ENST00000490478.1_Silent_p.T887T NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 981 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTGAGCGCACCATCAAGGAGA 0.478000 8 20 0 0 0.006214 0 0 FAM64A 54478 broad.mit.edu 37 17 6350821 6350821 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:6350821G>A ENST00000572447.1 + 3 442 c.333G>A c.(331-333)ctG>ctA p.L111L FAM64A_ENST00000576056.1_Silent_p.L111L|FAM64A_ENST00000250056.8_Silent_p.L111L|FAM64A_ENST00000572595.2_Silent_p.L142L|FAM64A_ENST00000571373.1_Silent_p.L111L|FAM64A_ENST00000570337.2_Silent_p.L111L NM_019013.2 NP_061886.2 Q9BSJ6 FA64A_HUMAN family with sequence similarity 64, member A 111 nucleolus protein binding breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 COAD - Colon adenocarcinoma(228;0.141) CCAAGTGGCTGGTGGAGACCC 0.587000 25 87 0 0 0.003954 0 0 DSG4 147409 broad.mit.edu 37 18 28970666 28970666 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:28970666C>T ENST00000359747.4 + 6 594 c.565C>T c.(565-567)Cat>Tat p.H189Y RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.H189Y NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 189 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGAAGAAAATCATCTGAATTC 0.408000 16 72 0 0 0.004990 0 0 ACSM5 54988 broad.mit.edu 37 16 20422911 20422911 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:20422911C>T ENST00000331849.4 + 2 252 c.105C>T c.(103-105)atC>atT p.I35I ACSM5_ENST00000575584.1_Silent_p.I35I NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 35 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 CTCAGAAGATCGTGGCCACCT 0.582000 20 29 0 0 0.001523 0 0 PARD3 56288 broad.mit.edu 37 10 34573111 34573111 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:34573111G>A ENST00000374789.3 - 21 3462 c.3137C>T c.(3136-3138)tCc>tTc p.S1046F PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374790.3_Missense_Mutation_p.S986F|PARD3_ENST00000545693.1_Missense_Mutation_p.S1030F|PARD3_ENST00000350537.4_Missense_Mutation_p.S1000F|PARD3_ENST00000545260.1_Missense_Mutation_p.S956F|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000374788.3_Missense_Mutation_p.S1043F NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1046 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding p.S1046F(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TGATGTAAAGGATTCCTGTAT 0.338000 39 16 0 0 0.006999 0 0 KIF5A 3798 broad.mit.edu 37 12 57962772 57962772 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:57962772C>T ENST00000455537.2 + 9 1015 c.741C>T c.(739-741)gcC>gcT p.A247A KIF5A_ENST00000286452.5_Silent_p.A158A NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 247 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CAGAGGGAGCCGTGCTGGACG 0.562000 7 29 0 0 0.004482 0 0 UNC93A 54346 broad.mit.edu 37 6 167717489 167717489 + Missense_Mutation SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:167717489G>T ENST00000230256.3 + 5 883 c.708G>T c.(706-708)aaG>aaT p.K236N UNC93A_ENST00000366829.2_Missense_Mutation_p.K194N NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 236 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) aaggagagaagaaatcagtac 0.473000 19 35 1.67942e-08 1.97578e-08 0.006122 1 0 PCDH17 27253 broad.mit.edu 37 13 58208628 58208628 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:58208628C>T ENST00000377918.3 + 1 1974 c.1948C>T c.(1948-1950)Cct>Tct p.P650S NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 650 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CACGCTGCACCCTTTCTGGGA 0.647000 59 105 0 0 0.003610 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133978234 133978234 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:133978234G>A ENST00000298622.4 + 20 2617 c.2479G>A c.(2479-2481)Gaa>Aaa p.E827K JAKMIP3_ENST00000477275.1_3'UTR NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGAACTGGAGGAAAAGGTAAA 0.433000 12 6 0 0 0.001368 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55038833 55038833 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:55038833G>A ENST00000474759.1 + 32 2782 c.2734G>A c.(2734-2736)Gaa>Aaa p.E912K CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E912K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E912K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E818K NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 912 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGCCAACAAGGAAAGCAGCGA 0.458000 11 60 0 0 0.000978 0 0 MXRA5 25878 broad.mit.edu 37 X 3235770 3235770 + Nonsense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chrX:3235770C>T ENST00000217939.6 - 6 6106 c.5952G>A c.(5950-5952)tgG>tgA p.W1984* NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1984 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAGGGAAGATCCAGGAAATTT 0.582000 26 5 0 0 0.006320 0 0 BAGE2 85319 broad.mit.edu 37 21 11049620 11049620 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:11049620C>T ENST00000470054.1 - 0 488 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATCTTCCTTCGCTATAATTA 0.373000 14 114 0 0 0.006122 0 0 CD163 9332 broad.mit.edu 37 12 7635276 7635276 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:7635276G>A ENST00000359156.4 - 14 3412 c.3210C>T c.(3208-3210)ttC>ttT p.F1070F CD163_ENST00000432237.2_Silent_p.F1070F|CD163_ENST00000396620.3_Silent_p.F1103F|CD163_ENST00000541972.1_Silent_p.F1058F NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1070 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTTTAGTCAAGAAGAATAATG 0.423000 61 88 0 0 0.003610 0 0 LPAR3 23566 broad.mit.edu 37 1 85331271 85331271 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:85331271G>A ENST00000440886.1 - 1 571 c.533C>T c.(532-534)tCc>tTc p.S178F LPAR3_ENST00000370611.3_Missense_Mutation_p.S178F|LPAR3_ENST00000491034.1_Intron Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 178 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 GGGGGCCAGGGAAGAGCAGGC 0.542000 46 33 0 0 0.002222 0 0 ZC3H18 124245 broad.mit.edu 37 16 88689692 88689692 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:88689692C>T ENST00000301011.5 + 10 1933 c.1733C>T c.(1732-1734)tCc>tTc p.S578F ZC3H18_ENST00000452588.2_Missense_Mutation_p.S602F NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 578 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CGGTCTTCATCCTACAGCTCC 0.652000 35 12 0 0 0.002836 0 0 RECK 8434 broad.mit.edu 37 9 36102143 36102143 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:36102143G>A ENST00000377966.3 + 12 1917 c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 451 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CAAATTCCCTGAAGACCACAC 0.373000 7 25 0 0 0.001984 0 0 C1R 715 broad.mit.edu 37 12 7242311 7242311 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:7242311G>A ENST00000542285.1 - 4 589 c.440C>T c.(439-441)tCc>tTc p.S147F P00736 C1R_HUMAN complement component 1, r subcomponent 148 EGF-like; calcium-binding (Potential). complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTTGCTCCGGGAAGCACATTC 0.557000 17 23 0 0 0.004990 0 0 ADAM29 11086 broad.mit.edu 37 4 175898197 175898197 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:175898197G>A ENST00000359240.3 + 5 2191 c.1521G>A c.(1519-1521)agG>agA p.R507R ADAM29_ENST00000445694.1_Silent_p.R507R|ADAM29_ENST00000404450.4_Silent_p.R507R|ADAM29_ENST00000514159.1_Silent_p.R507R NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 507 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AGTGTAGGAGGATTTTTGGTG 0.448000 50 40 0 0 0.003610 0 0 GHRHR 2692 broad.mit.edu 37 7 31014610 31014610 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:31014610C>T ENST00000409316.1 + 6 573 c.136C>T c.(136-138)Ccc>Tcc p.P46S GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Silent_p.S279S|GHRHR_ENST00000409904.3_Silent_p.S215S Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 149 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 biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) ACGACACCTCCCCCTACTGGT 0.587000 OREG0017943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 95 0 0 0.002522 0 0 CARD11 84433 broad.mit.edu 37 7 2979485 2979485 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:2979485C>T ENST00000396946.4 - 6 1165 c.762G>A c.(760-762)aaG>aaA p.K254K NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 254 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CAATGTCATTCTTCAGTTTTA 0.473000 Mis DLBCL 92 77 0 0 0.003610 0 0 CCDC146 57639 broad.mit.edu 37 7 76889382 76889382 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:76889382C>T ENST00000285871.4 + 8 942 c.815C>T c.(814-816)tCc>tTc p.S272F CCDC146_ENST00000431197.1_Missense_Mutation_p.S18F|CCDC146_ENST00000415740.2_3'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 272 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CTAAATGACTCCCTAAAGAAA 0.373000 61 44 0 0 0.003610 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955687 18955687 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:18955687G>A ENST00000302797.3 - 1 869 c.645C>T c.(643-645)taC>taT p.Y215Y MRGPRX1_ENST00000526914.1_Intron NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 215 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GGATGGTCACGTACAGCCTGG 0.517000 17 55 0 0 0.004007 0 0 PDE7B 27115 broad.mit.edu 37 6 136476825 136476825 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:136476825G>A ENST00000308191.6 + 8 943 c.640G>A c.(640-642)Gat>Aat p.D214N RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 214 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) AGCAGCACACGATGTGGACCA 0.488000 20 3 0 0 0.001882 0 0 KL 9365 broad.mit.edu 37 13 33629429 33629429 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:33629429G>A ENST00000380099.3 + 3 1584 c.1576G>A c.(1576-1578)Gga>Aga p.G526R KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.G219R NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 526 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CTTTGCTTGGGGAGTTGTTGA 0.448000 31 59 0 0 0.001786 0 0 CRNKL1 51340 broad.mit.edu 37 20 20024146 20024146 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:20024146T>C ENST00000377340.2 - 8 1476 c.1445A>G c.(1444-1446)gAa>gGa p.E482G CRNKL1_ENST00000377327.4_Missense_Mutation_p.E470G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E321G NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 482 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 CTTCACTTCTTCTTCGTACTG 0.398000 58 77 0 0 0.003610 0 0 IL10RA 3587 broad.mit.edu 37 11 117869953 117869953 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:117869953G>A ENST00000227752.3 + 7 1454 c.1334G>A c.(1333-1335)gGt>gAt p.G445D IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.G296D|IL10RA_ENST00000541785.1_Missense_Mutation_p.G425D NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 445 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GCATTCCAGGGTTACCTGAGG 0.627000 31 16 0 0 0.001786 0 0 PHC1 1911 broad.mit.edu 37 12 9072355 9072355 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9072355C>T ENST00000543824.1 + 4 450 c.118C>T c.(118-120)Ctg>Ttg p.L40L PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Silent_p.L40L|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433083.2_Intron P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 40 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 TTCCTAGGCTCTGCAAGCACT 0.502000 17 24 0 0 0.002299 0 0 SCN10A 6336 broad.mit.edu 37 3 38739846 38739846 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:38739846G>A ENST00000449082.2 - 27 4864 c.4865C>T c.(4864-4866)tCt>tTt p.S1622F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1622 sensory perception voltage-gated sodium channel complex p.S1622F(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ACCGAAGATAGAGTAGATGAA 0.547000 34 84 0 0 0.003271 0 0 TRMT2A 27037 broad.mit.edu 37 22 20102127 20102127 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:20102127G>A ENST00000252136.7 - 7 1591 c.1203C>T c.(1201-1203)acC>acT p.T401T TRMT2A_ENST00000404751.3_Silent_p.T401T|TRMT2A_ENST00000439169.2_Silent_p.T401T|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000403707.3_Silent_p.T401T NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 401 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 AGATCCGGAAGGTCAGCCCTA 0.632000 49 100 0 0 0.003610 0 0 OR51A4 401666 broad.mit.edu 37 11 4967729 4967729 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:4967729C>T ENST00000380373.2 - 1 627 c.602G>A c.(601-603)gGc>gAc p.G201D MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCAAAAAAGCCATAGATAAC 0.413000 7 54 0 0 0.001855 0 0 WIPI1 55062 broad.mit.edu 37 17 66447029 66447029 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:66447029G>A ENST00000262139.5 - 3 172 c.173C>T c.(172-174)cCg>cTg p.P58L WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_5'UTR NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 58 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 GTAGACGTCCGGGATTTCATC 0.557000 21 46 0 0 0.001523 0 0 KRTAP19-4 337971 broad.mit.edu 37 21 31869219 31869219 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:31869219C>T ENST00000334058.2 - 1 232 c.210G>A c.(208-210)acG>acA p.T70T NM_181610.1 NP_853641.1 Q3LI73 KR194_HUMAN keratin associated protein 19-4 70 intermediate filament central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CCTCTGATATCGTGTCCTCAG 0.408000 69 22 0 0 0.003610 0 0 FAT2 2196 broad.mit.edu 37 5 150922725 150922725 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:150922725G>A ENST00000261800.5 - 9 7975 c.7963C>T c.(7963-7965)Cag>Tag p.Q2655* NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2655 Cadherin 23. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCAAGGGTCTGATTTTCCAAT 0.473000 38 31 0 0 0.006230 0 0 MBD5 55777 broad.mit.edu 37 2 149221446 149221446 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:149221446C>T ENST00000407073.1 + 8 1352 c.355C>T c.(355-357)Cca>Tca p.P119S MBD5_ENST00000404807.1_Missense_Mutation_p.P119S NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 119 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CATGGAAGCCCCACATCCTTC 0.443000 29 32 0 0 0.002445 0 0 TRIML1 339976 broad.mit.edu 37 4 189061057 189061057 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:189061057C>T ENST00000332517.3 + 1 485 c.345C>T c.(343-345)ttC>ttT p.F115F NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 115 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GAAGCGCCTTCGTAGCCCAGA 0.612000 10 23 0 0 0.008291 0 0 REN 5972 broad.mit.edu 37 1 204129781 204129781 + Silent SNP C C G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:204129781C>G ENST00000367195.2 - 4 442 c.399G>C c.(397-399)tcG>tcC p.S133S REN_ENST00000272190.8_Silent_p.S133S P00797 RENI_HUMAN renin 133 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) TGGAGGAATCCGAAGCATCGA 0.542000 22 69 0 0 0.005443 0 0 RGPD3 653489 broad.mit.edu 37 2 107041611 107041611 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:107041611C>T ENST00000409886.3 - 20 2899 c.2812G>A c.(2812-2814)Gaa>Aaa p.E938K RGPD3_ENST00000304514.7_Missense_Mutation_p.E938K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 938 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 AGAGGCTTTTCACTTTTCTTT 0.408000 62 178 0 0 0.003610 0 0 IGHV3-11 28450 broad.mit.edu 37 14 106573654 106573654 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:106573654G>A ENST00000390601.2 - 0 146 TAGCAACAAGGAAAACCCAGC 0.468000 30 65 0 0 0.002836 0 0 EHMT2 10919 broad.mit.edu 37 6 31855893 31855893 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:31855893G>A ENST00000395728.3 - 12 1840 c.1841C>T c.(1840-1842)cCg>cTg p.P614L EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P580L|EHMT2_ENST00000375530.4_Missense_Mutation_p.P523L|EHMT2_ENST00000375537.4_Missense_Mutation_p.P557L Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 557 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 AGTGCCGGCCGGTGGGGTCAC 0.642000 131 149 0 0 0.003610 0 0 ADAM29 11086 broad.mit.edu 37 4 175898960 175898960 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:175898960C>T ENST00000359240.3 + 5 2954 c.2284C>T c.(2284-2286)Cct>Tct p.P762S ADAM29_ENST00000445694.1_Missense_Mutation_p.P762S|ADAM29_ENST00000404450.4_Missense_Mutation_p.P762S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.P762S NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 762 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GAGTCAACCTCCTGTGACACC 0.572000 28 86 0 0 0.001786 0 0 AC096579.13 0 broad.mit.edu 37 2 89156800 89156800 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:89156800G>A ENST00000452230.1 - 0 39 IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA GTCCCCTGTGGAAAAAGGGTC 0.547000 4 11 0 0 0.000248 0 0 MDN1 23195 broad.mit.edu 37 6 90405637 90405637 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:90405637G>A ENST00000369393.3 - 61 9573 c.9458C>T c.(9457-9459)tCc>tTc p.S3153F MDN1_ENST00000428876.1_Missense_Mutation_p.S3153F Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3153 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGCCGCCGGGACTCTGGGAG 0.617000 52 79 0 0 0.003610 0 0 SLC25A36 55186 broad.mit.edu 37 3 140695203 140695203 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:140695203C>T ENST00000446041.2 + 7 1066 c.841C>T c.(841-843)Cgt>Tgt p.R281C SLC25A36_ENST00000453248.2_Missense_Mutation_p.R256C|SLC25A36_ENST00000324194.6_Missense_Mutation_p.R282C NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 282 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 GTCTCTTTATCGTGGTCTGAC 0.403000 12 37 0 0 0.000978 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626859 108626859 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:108626859G>A ENST00000264047.2 + 9 1561 c.1285G>A c.(1285-1287)Gga>Aga p.G429R SLC5A7_ENST00000540517.1_Missense_Mutation_p.G324R|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G429R NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 429 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CTTTGTTAAGGGAACCAACAC 0.488000 15 49 0 0 0.002450 0 0 HYDIN 54768 broad.mit.edu 37 16 71025993 71025993 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:71025993C>T ENST00000393567.2 - 24 3915 c.3765G>A c.(3763-3765)atG>atA p.M1255I HYDIN_ENST00000448089.2_Missense_Mutation_p.M1207I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1255 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CATTTAAATCCATCTCGGGGG 0.453000 4 31 0 0 0.001168 0 0 NR1H4 9971 broad.mit.edu 37 12 100928794 100928794 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:100928794C>T ENST00000548884.1 + 6 1254 c.713C>T c.(712-714)tCa>tTa p.S238L NR1H4_ENST00000392986.3_Missense_Mutation_p.S242L|NR1H4_ENST00000188403.7_Missense_Mutation_p.S248L|NR1H4_ENST00000551379.1_Missense_Mutation_p.S252L|NR1H4_ENST00000549996.1_Missense_Mutation_p.S191L NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 252 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 ACAACAAAGTCATGCAGGGTA 0.463000 28 18 0 0 0.002096 0 0 THBS3 7059 broad.mit.edu 37 1 155172680 155172680 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:155172680C>T ENST00000368378.3 - 8 900 c.880G>A c.(880-882)Gag>Aag p.E294K THBS3_ENST00000428962.2_Missense_Mutation_p.E144K|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.E174K|THBS3_ENST00000541990.1_5'UTR NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 294 EGF-like 1. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTGGGTACTCGTACACTTCC 0.627000 33 54 0 0 0.001786 0 0 FNDC1 84624 broad.mit.edu 37 6 159653194 159653194 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:159653194G>A ENST00000297267.9 + 11 1850 c.1650G>A c.(1648-1650)gaG>gaA p.E550E FNDC1_ENST00000340366.6_Silent_p.E487E NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 550 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GTTCCCGGGAGGACTCGCCCA 0.637000 12 2 0 0 0.003163 0 0 ZBP1 81030 broad.mit.edu 37 20 56186787 56186787 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:56186787G>A ENST00000340462.4 - 5 1081 c.801C>T c.(799-801)ccC>ccT p.P267P ZBP1_ENST00000343535.4_Silent_p.P290P|ZBP1_ENST00000395822.3_Silent_p.P215P|ZBP1_ENST00000371173.3_Silent_p.P290P Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 290 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) AGTTACCTGGGGGGCTGCCAG 0.612000 21 16 0 0 0.002780 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070111 141070111 + RNA SNP T T C rs139643347 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:141070111T>C ENST00000503395.1 + 0 1191 p.S75S(1) CCATGGACTCTGTGCGCTCGG 0.697000 4 64 0 0 0.001984 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030446 10030446 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:10030446C>T ENST00000378380.3 + 6 1558 c.1229C>T c.(1228-1230)tCg>tTg p.S410L ANKEF1_ENST00000378392.1_Missense_Mutation_p.S410L|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GTCTTAGGATCGTATGGACCT 0.408000 34 58 0 0 0.003755 0 0 FGF21 26291 broad.mit.edu 37 19 49259616 49259616 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:49259616G>A ENST00000593756.1 + 2 695 c.123G>A c.(121-123)ggG>ggA p.G41G FGF21_ENST00000222157.3_Silent_p.G41G Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 41 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TGCAATTCGGGGGCCAAGTCC 0.632000 12 27 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9061785 9061785 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:9061785G>A ENST00000397910.4 - 3 25864 c.25661C>T c.(25660-25662)tCt>tTt p.S8554F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8556 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTTCCACAGAGGGAAGGCT 0.507000 10 19 0 0 0.006214 0 0 MYO15A 51168 broad.mit.edu 37 17 18060493 18060493 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:18060493C>T ENST00000205890.5 + 50 9075 c.8737C>T c.(8737-8739)Cgc>Tgc p.R2913C MYO15A_ENST00000418233.3_Missense_Mutation_p.R177C NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2913 SH3.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTGCGTGGTTCGCAGGAAGGT 0.662000 7 7 0 0 0.003080 0 0 ADAM32 203102 broad.mit.edu 37 8 39091417 39091417 + Splice_Site SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:39091417G>A ENST00000379907.4 + 16 1761 c.e16-1 ADAM32_ENST00000437682.2_Splice_Site|ADAM32_ENST00000519315.1_Splice_Site NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TATGTTTTCAGGAATCTTATA 0.313000 3 7 0 0 0.004672 0 0 PTPRB 5787 broad.mit.edu 37 12 70928359 70928359 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:70928359C>T ENST00000334414.6 - 31 6321 c.6277G>A c.(6277-6279)Gaa>Aaa p.E2093K RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.E2005K|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1785K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1785K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1875K|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1785K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1875 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGGGTGGTTTCTGGGACTCCA 0.532000 10 11 0 0 0.001368 0 0 SLFN11 91607 broad.mit.edu 37 17 33690205 33690205 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:33690205G>A ENST00000394566.1 - 4 894 c.622C>T c.(622-624)Cct>Tct p.P208S SLFN11_ENST00000308377.4_Missense_Mutation_p.P208S NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 208 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGAGACTCAGGAAAAGGCAGG 0.413000 28 61 0 0 0.006320 0 0 OR4D2 124538 broad.mit.edu 37 17 56247483 56247483 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:56247483C>T ENST00000545221.1 + 1 467 c.467C>T c.(466-468)tCt>tTt p.S156F NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TTTGTCCACTCTATTGTCCAG 0.567000 45 125 0 0 0.002522 0 0 ATXN1 6310 broad.mit.edu 37 6 16327065 16327065 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:16327065G>A ENST00000244769.4 - 8 2413 c.1477C>T c.(1477-1479)Ccg>Tcg p.P493S ATXN1_ENST00000436367.1_Missense_Mutation_p.P493S NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 493 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CTGCCGACCGGGATGAGCAGG 0.667000 92 123 0 0 0.003610 0 0 NES 10763 broad.mit.edu 37 1 156641395 156641395 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:156641395G>A ENST00000368223.3 - 4 2717 c.2585C>T c.(2584-2586)cCt>cTt p.P862L NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 862 Tail. QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780). brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTTTCTAGAGGATTCATTGC 0.453000 78 72 0 0 0.003610 0 0 FOLH1 2346 broad.mit.edu 37 11 49214396 49214396 + Silent SNP A A T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:49214396A>T ENST00000340334.7 - 5 785 c.417T>A c.(415-417)gtT>gtA p.V139V FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000256999.2_Silent_p.V154V|FOLH1_ENST00000533034.1_Silent_p.V139V|FOLH1_ENST00000356696.3_Silent_p.V154V NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 154 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CAATATCCGAAACATTTTCAT 0.328000 65 118 0 0 0.003610 0 0 AGXT 189 broad.mit.edu 37 2 241808382 241808382 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:241808382C>T ENST00000307503.3 + 1 487 c.100C>T c.(100-102)Cct>Tct p.P34S NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 34 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TTCCAACCTGCCTCCTCGCAT 0.652000 20 40 0 0 0.004656 0 0 IFNA21 3452 broad.mit.edu 37 9 21166467 21166467 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:21166467G>A ENST00000380225.1 - 1 192 c.145C>T c.(145-147)Cct>Tct p.P49S NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 49 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAGGAGAAAGGAGAGATTCTT 0.517000 78 22 0 0 0.003610 0 0 BCO2 83875 broad.mit.edu 37 11 112088573 112088573 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:112088573C>T ENST00000357685.5 + 12 1851 c.1716C>T c.(1714-1716)ttC>ttT p.F572F BCO2_ENST00000361053.4_Silent_p.F499F|BCO2_ENST00000438022.1_Silent_p.F538F|BCO2_ENST00000393032.2_Silent_p.F538F|BCO2_ENST00000531169.1_Silent_p.F538F|BCO2_ENST00000526088.1_Silent_p.F532F|BCO2_ENST00000532593.1_Silent_p.F467F Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 572 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 CTTATGGGTTCCATGGTACCT 0.423000 26 5 0 0 0.006320 0 0 TRPV2 51393 broad.mit.edu 37 17 16330068 16330068 + Silent SNP G G T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:16330068G>T ENST00000338560.7 + 7 1527 c.1128G>T c.(1126-1128)ctG>ctT p.L376L TRPV2_ENST00000577397.1_Intron NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 376 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGGAGCCCCTGAACAAACTGC 0.517000 25 27 3.28513e-13 3.88116e-13 0.003954 1 0 PLA2G3 50487 broad.mit.edu 37 22 31532705 31532705 + Missense_Mutation SNP T T G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:31532705T>G ENST00000215885.3 - 6 1532 c.1280A>C c.(1279-1281)aAg>aCg p.K427T NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 427 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 AGGGGCCAGCTTGAAGCAGGT 0.577000 84 106 0 0 0.003610 0 0 CYP2R1 120227 broad.mit.edu 37 11 14901713 14901713 + Silent SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:14901713A>G ENST00000532378.1 - 4 1124 c.270T>C c.(268-270)atT>atC p.I90I CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000334636.5_Silent_p.I323I Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 323 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) CCATGAAAAGAATCGCCCACC 0.408000 19 26 0 0 0.008871 0 0 BSN 8927 broad.mit.edu 37 3 49662608 49662608 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:49662608C>T ENST00000296452.4 + 2 539 c.425C>T c.(424-426)cCc>cTc p.P142L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 142 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding p.P142L(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGGCGGTCCCCCTCAGTGTCA 0.647000 30 15 0 0 0.008361 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32893853 32893853 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:32893853C>T ENST00000330048.5 - 0 1404 NR_003083.2 TGGACTCACTCCCAGAACTCG 0.617000 25 95 0 0 0.006999 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763759 77763759 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:77763759C>T ENST00000521891.2 + 10 5050 c.4602C>T c.(4600-4602)ttC>ttT p.F1534F ZFHX4_ENST00000455469.2_Silent_p.F1489F|ZFHX4_ENST00000518282.1_Silent_p.F1508F|ZFHX4_ENST00000050961.6_Silent_p.F1489F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1489 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGGAAAAATTCCTTGATCCAT 0.398000 HNSCC(33;0.089) 9 36 0 0 0.000978 0 0 NEB 4703 broad.mit.edu 37 2 152484039 152484039 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:152484039C>T ENST00000397345.3 - 69 10343 c.10141G>A c.(10141-10143)Gat>Aat p.D3381N NEB_ENST00000409198.1_Missense_Mutation_p.D3138N|NEB_ENST00000427231.2_Missense_Mutation_p.D3381N|NEB_ENST00000603639.1_Missense_Mutation_p.D3381N|NEB_ENST00000604864.1_Missense_Mutation_p.D3381N|NEB_ENST00000172853.10_Missense_Mutation_p.D3138N NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3381 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTACTCACATCGCTCTGGAGG 0.473000 41 120 0 0 0.002222 0 0 LUM 4060 broad.mit.edu 37 12 91502014 91502014 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:91502014C>T ENST00000266718.4 - 2 1197 c.743G>A c.(742-744)gGa>gAa p.G248E LUM_ENST00000548071.1_5'UTR NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 248 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 GAAAGAATTTCCAGGTATTCC 0.383000 39 45 0 0 0.007835 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018580 161018580 + Missense_Mutation SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:161018580T>C ENST00000368013.3 - 12 2551 c.2231A>G c.(2230-2232)gAt>gGt p.D744G ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D567G|ARHGAP30_ENST00000368016.3_Intron NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 744 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TTCCTTCTCATCTGTATACTC 0.488000 52 204 0 0 0.003610 0 0 EPHA4 2043 broad.mit.edu 37 2 222347196 222347196 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:222347196G>A ENST00000281821.2 - 5 1235 c.1194C>T c.(1192-1194)gtC>gtT p.V398V EPHA4_ENST00000392071.4_Silent_p.V347V|EPHA4_ENST00000409938.1_Silent_p.V398V|EPHA4_ENST00000409854.1_Silent_p.V398V NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 398 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CAGTGATGGAGACTTTGGTGG 0.498000 153 144 0 0 0.003610 0 0 TMEM2 23670 broad.mit.edu 37 9 74349793 74349793 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:74349793G>A ENST00000377044.4 - 6 1861 c.1322C>T c.(1321-1323)tCc>tTc p.S441F TMEM2_ENST00000377066.5_Intron NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 441 integral to membrane p.S441F(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TTGGTACATGGAATAGTCTGT 0.438000 54 16 0 0 0.003610 0 0 ATP13A2 23400 broad.mit.edu 37 1 17318891 17318891 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:17318891G>A ENST00000452699.1 - 18 2026 c.1837C>T c.(1837-1839)Ccc>Tcc p.P613S RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P613S|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P618S NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 618 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GGCACCGGGGGCTCCTCCTGC 0.692000 22 25 0 0 0.001882 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156464 70156464 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:70156464G>A ENST00000335568.5 + 5 1247 c.1245G>A c.(1243-1245)ctG>ctA p.L415L UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 415 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CTGTTAGACTGGACTTCCACA 0.438000 64 85 0 0 0.003610 0 0 SERPINB3 6317 broad.mit.edu 37 18 61326686 61326686 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr18:61326686C>T ENST00000283752.5 - 4 441 c.298G>A c.(298-300)Gag>Aag p.E100K SERPINB3_ENST00000332821.8_Missense_Mutation_p.E100K|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 100 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 ATCTTCAGCTCATATGCATCA 0.393000 36 49 0 0 0.006999 0 0 TCHH 7062 broad.mit.edu 37 1 152085190 152085190 + Missense_Mutation SNP C C G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:152085190C>G ENST00000368804.1 - 2 502 c.503G>C c.(502-504)cGc>cCc p.R168P NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 168 keratinization cytoskeleton calcium ion binding p.R168H(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCGTCGCGGCGCTGCCTGTC 0.587000 38 198 0 0 0.002522 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801739 185801739 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:185801739G>A ENST00000302277.6 + 4 2210 c.1616G>A c.(1615-1617)gGa>gAa p.G539E NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 539 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGTGATTCTGGAAAAAATGAG 0.343000 11 30 0 0 0.008291 0 0 FNDC3B 64778 broad.mit.edu 37 3 172046830 172046830 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:172046830C>T ENST00000336824.4 + 12 1442 c.1343C>T c.(1342-1344)aCa>aTa p.T448I FNDC3B_ENST00000416957.1_Missense_Mutation_p.T448I|FNDC3B_ENST00000415807.2_Missense_Mutation_p.T448I NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 448 Fibronectin type-III 2. T -> A (in Ref. 3; BAG37083). endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ATGGGGTACACATTCAGGCTG 0.483000 28 102 0 0 0.007291 0 0 PCK1 5105 broad.mit.edu 37 20 56140810 56140810 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:56140810G>A ENST00000319441.4 + 10 1983 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K PCK1_ENST00000543666.1_Missense_Mutation_p.E290K NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 607 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCTCCCCTGTGAAATCGAGAG 0.458000 22 21 0 0 0.003330 0 0 AFF4 27125 broad.mit.edu 37 5 132234065 132234065 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:132234065G>A ENST00000265343.5 - 10 1625 c.1246C>T c.(1246-1248)Cat>Tat p.H416Y AFF4_ENST00000378595.3_Missense_Mutation_p.H416Y NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 416 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCACTATTATGGTGTGAAGGT 0.388000 27 21 0 0 0.005443 0 0 LARP4 113251 broad.mit.edu 37 12 50854978 50854978 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:50854978C>T ENST00000398473.2 + 11 1294 c.1182C>T c.(1180-1182)tcC>tcT p.S394S LARP4_ENST00000429001.3_Silent_p.S400S|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000518444.1_Silent_p.S393S|LARP4_ENST00000347328.5_Silent_p.S323S|LARP4_ENST00000522085.1_Silent_p.S394S|LARP4_ENST00000518561.1_Silent_p.S324S NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 394 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GCTCTGTATCCTTGGGGGATG 0.433000 52 81 0 0 0.003610 0 0 REXO1 57455 broad.mit.edu 37 19 1818750 1818750 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:1818750C>T ENST00000170168.4 - 9 2951 c.2857G>A c.(2857-2859)Ggg>Agg p.G953R NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 953 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATTGCGCCCCCGGGCCGCTCT 0.667000 7 24 0 0 0.001984 0 0 AGXT2 64902 broad.mit.edu 37 5 35026524 35026524 + Missense_Mutation SNP T T G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:35026524T>G ENST00000231420.6 - 8 1061 c.861A>C c.(859-861)gaA>gaC p.E287D NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 287 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CTTGAATAGGTTCTGCGAAAA 0.358000 9 30 0 0 0.001368 0 0 SPTB 6710 broad.mit.edu 37 14 65252634 65252634 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:65252634G>A ENST00000389722.3 - 16 3650 c.3597C>T c.(3595-3597)tcC>tcT p.S1199S SPTB_ENST00000542895.1_Silent_p.S1199S|SPTB_ENST00000389720.3_Silent_p.S1199S|SPTB_ENST00000389721.5_Silent_p.S1199S|SPTB_ENST00000556626.1_Silent_p.S1199S NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1199 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CAGCTTCCAGGGAGTCTGGGG 0.532000 78 66 0 0 0.003610 0 0 LRTM1 57408 broad.mit.edu 37 3 54959009 54959009 + Missense_Mutation SNP A A C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:54959009A>C ENST00000273286.5 - 2 403 c.241T>G c.(241-243)Ttg>Gtg p.L81V CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.L5V|CACNA2D3_ENST00000474759.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 81 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) TTGTTGGACAAGTTTAAGGTC 0.448000 13 34 0 0 0.001855 0 0 ABCA4 24 broad.mit.edu 37 1 94474331 94474331 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:94474331G>A ENST00000370225.3 - 41 5897 c.5811C>T c.(5809-5811)atC>atT p.I1937I ABCA4_ENST00000536513.1_Silent_p.I207I|ABCA4_ENST00000535881.1_Silent_p.I56I|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1937 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTAGCCTTAAGATGTCAGTTT 0.423000 26 91 0 0 0.007291 0 0 CDCA2 157313 broad.mit.edu 37 8 25364185 25364185 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:25364185C>T ENST00000330560.3 + 15 2480 c.2003C>T c.(2002-2004)tCg>tTg p.S668L CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S653L NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 668 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AGTTCCTCATCGCTTGGCAAT 0.313000 9 52 0 0 0.006214 0 0 EXPH5 23086 broad.mit.edu 37 11 108412425 108412425 + Silent SNP T T C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:108412425T>C ENST00000265843.4 - 2 344 c.234A>G c.(232-234)ttA>ttG p.L78L EXPH5_ENST00000428840.1_Silent_p.L2L|EXPH5_ENST00000525344.1_Silent_p.L71L NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 78 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTGGTTGTTTTAACATTTGGC 0.338000 37 10 0 0 0.007835 0 0 PXDC1 221749 broad.mit.edu 37 6 3727859 3727859 + Silent SNP G G A rs138093421 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:3727859G>A ENST00000380283.4 - 4 998 c.504C>T c.(502-504)acC>acT p.T168T PXDC1_ENST00000477592.2_5'UTR NM_183373.3 NP_899229.2 Q5TGL8 CF145_HUMAN PX domain containing 1 168 cell communication phosphatidylinositol binding p.T168T(1) CTATTGTTTCGGTATTTGCTA 0.433000 28 43 0 0 0.002445 0 0 TIGIT 201633 broad.mit.edu 37 3 114014634 114014634 + Missense_Mutation SNP G G A rs146935299 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:114014634G>A ENST00000481065.1 + 3 3120 c.505G>A c.(505-507)Gat>Aat p.D169N TIGIT_ENST00000383671.3_Missense_Mutation_p.D102N|TIGIT_ENST00000486257.1_Missense_Mutation_p.D102N Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 102 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding p.D102N(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GACCGTGAACGATACAGGGGA 0.567000 26 26 0 0 0.004656 0 0 ZNF677 342926 broad.mit.edu 37 19 53747073 53747073 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:53747073G>A ENST00000333952.4 - 4 258 c.93C>T c.(91-93)gcC>gcT p.A31A ZNF677_ENST00000598513.1_Silent_p.A31A|ZNF677_ENST00000601413.1_Silent_p.A31A|ZNF677_ENST00000594681.1_Silent_p.A31A|ZNF677_ENST00000601828.1_Silent_p.A31A|ZNF677_ENST00000599012.1_Silent_p.A31A|ZNF677_ENST00000598806.1_Silent_p.A31A Q86XU0 ZN677_HUMAN zinc finger protein 677 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) CCCTGTACAAGGCCCTCTGGG 0.483000 38 23 0 0 0.004878 0 0 KALRN 8997 broad.mit.edu 37 3 124414982 124414982 + Splice_Site SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:124414982G>A ENST00000360013.3 + 54 7706 c.7577_splice c.e54-1 p.D2527_splice KALRN_ENST00000291478.4_Splice_Site_p.D830_splice|KALRN_ENST00000428018.2_Splice_Site_p.D798_splice NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2526 Ig-like C2-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGTCCCTAGTGATTCTGGAGA 0.483000 45 112 0 0 0.003610 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49654486 49654486 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:49654486G>A ENST00000249601.4 - 10 2341 c.2045C>T c.(2044-2046)tCg>tTg p.S682L ARHGAP22_ENST00000374170.1_Missense_Mutation_p.S523L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.S688L|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.S698L|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.S573L|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.S515L|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.S592L NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 682 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCTAGGGTCGAAAAAAACTC 0.542000 44 18 0 0 0.003610 0 0 CCDC101 112869 broad.mit.edu 37 16 28592445 28592445 + Nonsense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:28592445C>T ENST00000317058.3 + 2 242 c.55C>T c.(55-57)Cag>Tag p.Q19* NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 19 establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 AGAGCTCCATCAGCTGATCAA 0.547000 14 18 0 0 0.004007 0 0 OR1C1 26188 broad.mit.edu 37 1 247921397 247921397 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:247921397G>A ENST00000408896.2 - 1 585 c.312C>T c.(310-312)ttC>ttT p.F104F NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CAAAAGAAACGAAGAAGAAGA 0.473000 36 21 0 0 0.004878 0 0 NEU3 10825 broad.mit.edu 37 11 74716559 74716559 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:74716559C>T ENST00000532963.1 + 2 323 c.196C>T c.(196-198)Ctt>Ttt p.L66F NEU3_ENST00000531509.1_Silent_p.F136F|NEU3_ENST00000529024.1_Missense_Mutation_p.L66F|NEU3_ENST00000544263.1_Silent_p.F103F|NEU3_ENST00000294064.4_Silent_p.F136F|NEU3_ENST00000545272.1_Silent_p.F27F A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 0 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 TGTTCCTGTTCTTCATCTGTG 0.562000 34 26 0 0 0.002445 0 0 LOC100130700 100130700 broad.mit.edu 37 16 34739689 34739689 + RNA SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:34739689G>A ENST00000562591.1 - 0 233 NR_034019.1 ATGTCCCACGGAGATTCTGCT 0.388000 13 7 0 0 0.001368 0 0 CCDC88C 440193 broad.mit.edu 37 14 91739163 91739163 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:91739163C>T ENST00000389857.6 - 30 5979 c.5893G>A c.(5893-5895)Gga>Aga p.G1965R CCDC88C_ENST00000331194.7_Missense_Mutation_p.G489R NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1965 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) ACCCCGTCTCCCTCTGAGAGG 0.726000 11 14 0 0 0.001368 0 0 HECW2 57520 broad.mit.edu 37 2 197183308 197183308 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:197183308C>T ENST00000260983.2 - 9 2488 c.2306G>A c.(2305-2307)gGg>gAg p.G769E HECW2_ENST00000409111.1_Missense_Mutation_p.G413E NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 769 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GGCAGTTGCCCCTTCACAGGT 0.622000 27 27 0 0 0.008361 0 0 OR9G4 283189 broad.mit.edu 37 11 56510788 56510788 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:56510788C>T ENST00000302957.3 - 1 499 c.500G>A c.(499-501)gGa>gAa p.G167E NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 ATTCAAAAATCCTCCTATGTA 0.453000 48 59 0 0 0.003610 0 0 XPO4 64328 broad.mit.edu 37 13 21362747 21362747 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:21362747G>A ENST00000400602.2 - 20 2960 c.2925C>T c.(2923-2925)acC>acT p.T975T XPO4_ENST00000255305.6_Silent_p.T975T NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 975 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GATTACAAAGGGTTGGAAACT 0.299000 20 87 0 0 0.002780 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067514 11067514 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:11067514C>T ENST00000287766.4 + 9 1326 c.905C>T c.(904-906)tCc>tTc p.S302F SLC6A1_ENST00000536032.1_Missense_Mutation_p.S124F NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 302 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GGCCTGGGGTCCCTGATCGCT 0.537000 22 77 0 0 0.003330 0 0 OR4K5 79317 broad.mit.edu 37 14 20389033 20389033 + Missense_Mutation SNP G G A rs151215030 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr14:20389033G>A ENST00000315915.4 + 1 293 c.268G>A c.(268-270)Gag>Aag p.E90K NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAGTGCACACGAGACCATATC 0.428000 54 134 0 0 0.003610 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761086 121761086 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:121761086G>A ENST00000261367.7 + 7 2611 c.1183G>A c.(1183-1185)Gaa>Aaa p.E395K SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000504884.2_Missense_Mutation_p.R57Q|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E348K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E395K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 348 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AATTCACGACGAAAATGGAAA 0.438000 53 68 0 0 0.003610 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039580 55039580 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:55039580C>T ENST00000370862.3 + 1 531 c.195C>T c.(193-195)ttC>ttT p.F65F NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 65 feeding behavior integral to plasma membrane neuropeptide receptor activity p.F65F(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCATCGTGTTCGTCGTGGCTC 0.597000 41 40 0 0 0.002852 0 0 XKR6 286046 broad.mit.edu 37 8 10756182 10756182 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:10756182G>A ENST00000416569.2 - 3 1232 c.1206C>T c.(1204-1206)atC>atT p.I402I XKR6_ENST00000304437.2_Silent_p.I123I NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 402 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) TTCCGCCATGGATGATCCAGA 0.502000 22 27 0 0 0.002780 0 0 C11orf58 10944 broad.mit.edu 37 11 16774376 16774376 + Nonsense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:16774376C>T ENST00000228136.4 + 4 631 c.253C>T c.(253-255)Cag>Tag p.Q85* C11orf58_ENST00000525684.1_Silent_p.I64I|C11orf58_ENST00000422258.2_Nonsense_Mutation_p.Q41* O00193 SMAP_HUMAN chromosome 11 open reading frame 58 85 NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1) 7 GTCTCAATATCAGCAAAGTAT 0.338000 10 32 0 0 0.000978 0 0 LPHN2 23266 broad.mit.edu 37 1 82408712 82408712 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:82408712G>A ENST00000370728.1 + 8 1102 c.457G>A c.(457-459)Gaa>Aaa p.E153K LPHN2_ENST00000370727.1_Missense_Mutation_p.E153K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E153K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.E153K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E153K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E157K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E153K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E153K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E153K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E153K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E153K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E153K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E153K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E153K O95490 LPHN2_HUMAN latrophilin 2 153 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATATGAAGCTGAACAAAAGGC 0.403000 40 46 0 0 0.007835 0 0 OR2T2 401992 broad.mit.edu 37 1 248616137 248616137 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248616137C>T ENST00000342927.3 + 1 61 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCACTAACTTCGTCCTCACAG 0.507000 33 216 0 0 0.003610 0 0 WDFY3 23001 broad.mit.edu 37 4 85594125 85594125 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:85594125C>T ENST00000322366.6 - 67 10833 c.10426G>A c.(10426-10428)Gaa>Aaa p.E3476K WDFY3_ENST00000295888.4_Missense_Mutation_p.E3493K Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3493 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CGTTTGATTTCAGATTGAAAG 0.408000 33 45 0 0 0.003271 0 0 PLCB4 5332 broad.mit.edu 37 20 9449315 9449315 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:9449315G>A ENST00000378501.2 + 32 3325 c.3310G>A c.(3310-3312)Gaa>Aaa p.E1104K PLCB4_ENST00000278655.4_Missense_Mutation_p.E1104K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1116K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1104K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1104K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1116K|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1104 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AGCAGAACGGGAAAGGTAAGT 0.418000 32 40 0 0 0.001786 0 0 PTPN14 5784 broad.mit.edu 37 1 214567112 214567112 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:214567112G>A ENST00000366956.5 - 10 1049 c.855C>T c.(853-855)atC>atT p.I285I PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 285 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGCATTTTCGATATCATCCT 0.353000 24 19 0 0 0.004656 0 0 FAM83D 81610 broad.mit.edu 37 20 37580266 37580266 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:37580266C>T ENST00000217429.4 + 4 992 c.951C>T c.(949-951)ttC>ttT p.F317F NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 287 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) ATCTGGAGTTCCGAATCCTGT 0.448000 24 55 0 0 0.002780 0 0 KIAA1217 56243 broad.mit.edu 37 10 24816916 24816916 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr10:24816916G>A ENST00000376451.2 + 9 2259 c.1999G>A c.(1999-2001)Ggg>Agg p.G667R KIAA1217_ENST00000376462.1_Missense_Mutation_p.G904R|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G949R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G667R|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G984R|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G667R|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G667R|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G949R Q5T5P2 SKT_HUMAN KIAA1217 984 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TCACTATAATGGGAAAGAGTT 0.458000 60 16 0 0 0.003610 0 0 CELP 1057 broad.mit.edu 37 9 135962419 135962419 + RNA SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:135962419C>T ENST00000411440.2 + 0 926 NR_001275.2 ACAGGCAACTCCGAGTCTGCC 0.657000 23 8 0 0 0.001882 0 0 KCNH2 3757 broad.mit.edu 37 7 150656679 150656679 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:150656679G>A ENST00000392968.2 - 1 1285 c.165C>T c.(163-165)ccC>ccT p.P55P KCNH2_ENST00000430723.3_Silent_p.P151P|KCNH2_ENST00000262186.5_Silent_p.P151P Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 151 PAS. blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.T152fs*180(1) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GCCAGCTGGTGGGGGGGCCCC 0.587000 14 70 0 0 0.004007 0 0 CA12 771 broad.mit.edu 37 15 63631051 63631051 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:63631051C>T ENST00000178638.3 - 8 1281 c.841G>A c.(841-843)Gat>Aat p.D281N CA12_ENST00000422263.2_Missense_Mutation_p.D221N|CA12_ENST00000344366.3_Missense_Mutation_p.D281N NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 281 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) AGCCTCTCATCGAACTTCTGG 0.577000 16 39 0 0 0.006122 0 0 DNAH9 1770 broad.mit.edu 37 17 11687643 11687643 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:11687643C>T ENST00000262442.3 + 41 7916 c.7848C>T c.(7846-7848)tcC>tcT p.S2616S DNAH9_ENST00000454412.2_Silent_p.S2616S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2616 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGTCCTCTCCTTCCCGGGGG 0.532000 91 110 0 0 0.003610 0 0 PREX1 57580 broad.mit.edu 37 20 47258999 47258999 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:47258999G>A ENST00000396220.1 - 28 3652 c.3630C>T c.(3628-3630)atC>atT p.I1210I PREX1_ENST00000371941.3_Silent_p.I1210I|PREX1_ENST00000496915.1_5'UTR Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1210 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TGTCAGATGGGATCCGCATGT 0.567000 20 35 0 0 0.003330 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 85 0 0 0.000602 0 0 A2M 2 broad.mit.edu 37 12 9266120 9266120 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:9266120G>A ENST00000318602.7 - 2 413 c.106C>T c.(106-108)Ccc>Tcc p.P36S NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 36 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AGCAGGGAGGGGACCAGAACC 0.493000 14 96 0 0 0.002450 0 0 CAMTA2 23125 broad.mit.edu 37 17 4885044 4885044 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:4885044G>A ENST00000361571.5 - 6 902 c.491C>T c.(490-492)tCc>tTc p.S164F CAMTA2_ENST00000571831.1_5'UTR|CAMTA2_ENST00000348066.3_Missense_Mutation_p.S165F|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S165F|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S170F|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S188F|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S167F NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 165 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GCTGCTGATGGAACAAAAGAT 0.582000 12 43 0 0 0.001855 0 0 GPR124 25960 broad.mit.edu 37 8 37697721 37697721 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:37697721C>T ENST00000315215.7 + 14 2306 c.1943C>T c.(1942-1944)aCc>aTc p.T648I GPR124_ENST00000412232.2_Missense_Mutation_p.T865I Q96PE1 GP124_HUMAN G protein-coupled receptor 124 865 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AAGGAGCTCACCTGGAGGGCA 0.612000 27 30 0 0 0.004656 0 0 GJB3 2707 broad.mit.edu 37 1 35250783 35250783 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:35250783C>T ENST00000373366.2 + 2 1035 c.420C>T c.(418-420)atC>atT p.I140I GJB3_ENST00000373362.3_Silent_p.I140I|RP1-34M23.5_ENST00000542839.1_RNA NM_024009.2 NP_076872.1 O75712 CXB3_HUMAN gap junction protein, beta 3, 31kDa 140 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TCAAGCTCATCATTGAGTTCC 0.582000 54 66 0 0 0.003610 0 0 OXER1 165140 broad.mit.edu 37 2 42990265 42990265 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:42990265G>A ENST00000378661.2 - 1 1136 c.1055C>T c.(1054-1056)cCc>cTc p.P352L NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 352 regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 10 GTAGAGCACGGGGTCCAGGAC 0.652000 22 21 0 0 0.002299 0 0 NLRP13 126204 broad.mit.edu 37 19 56424631 56424631 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:56424631C>T ENST00000588751.1 - 5 576 c.552G>A c.(550-552)atG>atA p.M184I NLRP13_ENST00000342929.3_Missense_Mutation_p.M184I Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 184 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTTCAGCCTTCATGTTCTCTC 0.433000 34 123 0 0 0.004289 0 0 CALCR 799 broad.mit.edu 37 7 93101800 93101800 + Splice_Site SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:93101800C>T ENST00000359558.2 - 7 670 c.e7-1 CALCR_ENST00000394441.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000360249.4_Splice_Site NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GTAACCTTTTCTGTTAATGAA 0.308000 9 48 0 0 0.004482 0 0 PRAME 23532 broad.mit.edu 37 22 22892525 22892525 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:22892525G>A ENST00000543184.1 - 4 1438 c.576C>T c.(574-576)ttC>ttT p.F192F PRAME_ENST00000424204.2_Silent_p.F176F|PRAME_ENST00000402697.1_Silent_p.F192F|PRAME_ENST00000539862.1_Silent_p.F176F|PRAME_ENST00000405655.3_Silent_p.F192F|PRAME_ENST00000398741.1_Silent_p.F192F|PRAME_ENST00000398743.2_Silent_p.F192F NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 192 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TGAGGTAGGAGAACAATTCAT 0.453000 37 58 0 0 0.008740 0 0 OR1N2 138882 broad.mit.edu 37 9 125316149 125316149 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:125316149C>T ENST00000373688.2 + 1 759 c.701C>T c.(700-702)tCc>tTc p.S234F NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 ATCGTCTTCTCCTATGTCCGC 0.522000 65 15 0 0 0.003610 0 0 TEKT3 64518 broad.mit.edu 37 17 15234783 15234783 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:15234783G>A ENST00000395930.1 - 3 306 c.120C>T c.(118-120)tcC>tcT p.S40S TEKT3_ENST00000338696.2_Silent_p.S40S NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 40 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GGGTCAAATTGGAGTGGGGAA 0.537000 18 37 0 0 0.004990 0 0 SLC22A2 6582 broad.mit.edu 37 6 160662605 160662605 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:160662605G>A ENST00000366953.3 - 9 1660 c.1402C>T c.(1402-1404)Cac>Tac p.H468Y SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 468 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GAACAGATGTGGACGCCAAGA 0.468000 34 6 0 0 0.003755 0 0 IL1F10 84639 broad.mit.edu 37 2 113832373 113832373 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:113832373G>A ENST00000393197.2 + 3 613 c.192G>A c.(190-192)ggG>ggA p.G64G IL1F10_ENST00000341010.2_Silent_p.G64G|IL1F10_ENST00000337569.3_Silent_p.G64G NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 64 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 TCCAGGGAGGGAGCCGCTGCC 0.587000 15 48 0 0 0.003163 0 0 FOXI1 2299 broad.mit.edu 37 5 169533105 169533105 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:169533105C>T ENST00000449804.2 + 1 189 c.144C>T c.(142-144)tcC>tcT p.S48S FOXI1_ENST00000306268.6_Silent_p.S48S NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 48 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCGGCCCTCCTTCGAGGGGG 0.687000 Pendred syndrome 18 13 0 0 0.008871 0 0 IL1RL1 9173 broad.mit.edu 37 2 102959875 102959875 + Missense_Mutation SNP A A C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:102959875A>C ENST00000311734.2 + 8 1309 c.970A>C c.(970-972)Agt>Cgt p.S324R IL1RL1_ENST00000409584.1_Missense_Mutation_p.S310R|IL1RL1_ENST00000233954.1_Splice_Site_p.I324_splice|IL1RL1_ENST00000404917.2_Missense_Mutation_p.S207R Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 0 innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GAAAAATCCAAGTAAGGAGTG 0.443000 59 52 0 0 0.003610 0 0 PAPPA 5069 broad.mit.edu 37 9 118974126 118974126 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:118974126C>T ENST00000328252.3 + 4 2202 c.1833C>T c.(1831-1833)tcC>tcT p.S611S PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 611 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AACACAAGTCCTGTGGTGACC 0.527000 107 29 0 0 0.003610 0 0 UBASH3A 53347 broad.mit.edu 37 21 43863433 43863433 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr21:43863433C>T ENST00000319294.6 + 13 1674 c.1643C>T c.(1642-1644)cCc>cTc p.P548L UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Missense_Mutation_p.P510L NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 548 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CCCGCGTTTCCCCTGTCCGCC 0.592000 6 3 0 0 0.001984 0 0 PSG1 5669 broad.mit.edu 37 19 43382078 43382078 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:43382078G>A ENST00000244296.2 - 2 554 c.417C>T c.(415-417)acC>acT p.T139T PSG1_ENST00000595356.1_Silent_p.T139T|PSG1_ENST00000595124.1_Silent_p.T139T|PSG1_ENST00000436291.2_Silent_p.T139T|PSG1_ENST00000403380.3_Silent_p.T139T|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Silent_p.T139T NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GTAAGGTGAAGGTGAAACGTC 0.527000 106 80 0 0 0.003610 0 0 FIG4 9896 broad.mit.edu 37 6 110098168 110098168 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:110098168C>T ENST00000230124.3 + 16 1918 c.1794C>T c.(1792-1794)ttC>ttT p.F598F FIG4_ENST00000441478.2_Silent_p.F321F NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 598 F -> S (in Ref. 2; BAD96452). cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TGGGAGTTTTCCATCCCACTG 0.363000 29 7 0 0 0.006320 0 0 LILRB2 10288 broad.mit.edu 37 19 54782844 54782844 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:54782844C>T ENST00000391748.1 - 6 905 c.778G>A c.(778-780)Ggg>Agg p.G260R LILRB2_ENST00000434421.1_Missense_Mutation_p.G144R|LILRB2_ENST00000391749.4_Missense_Mutation_p.G260R|LILRB2_ENST00000314446.5_Missense_Mutation_p.G260R|LILRB2_ENST00000391746.1_Missense_Mutation_p.G260R NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 260 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACGTTCCCCCTCCTTGTAC 0.647000 14 47 0 0 0.002450 0 0 LY75 4065 broad.mit.edu 37 2 160688295 160688295 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:160688295G>A ENST00000263636.4 - 28 3871 c.3844C>T c.(3844-3846)Cca>Tca p.P1282S LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P1282S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P1282S|LY75_ENST00000554112.1_Missense_Mutation_p.P1282S|LY75_ENST00000553424.1_Missense_Mutation_p.P1282S NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TGTGATTTTGGATCTGTTGAA 0.279000 12 35 0 0 0.000978 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809785 18809785 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:18809785C>T ENST00000400664.1 + 1 2362 c.2310C>T c.(2308-2310)ccC>ccT p.P770P NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 770 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGCCCACCCCCGATTTGCCTC 0.657000 18 80 0 0 0.008871 0 0 ZNF440 126070 broad.mit.edu 37 19 11942602 11942602 + Missense_Mutation SNP T T A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:11942602T>A ENST00000304060.5 + 4 775 c.611T>A c.(610-612)tTt>tAt p.F204Y NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AAATGTAAGTTTTGTGGGAAA 0.373000 33 63 0 0 0.003755 0 0 THSD7B 80731 broad.mit.edu 37 2 137814229 137814229 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:137814229C>T ENST00000409968.1 + 3 557 c.379C>T c.(379-381)Cgg>Tgg p.R127W THSD7B_ENST00000413152.2_Missense_Mutation_p.R96W|THSD7B_ENST00000272643.3_Missense_Mutation_p.R127W thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGTCAAGCCTCGGACTGCAGA 0.537000 21 34 0 0 0.008871 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316469 39316469 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:39316469G>A ENST00000390661.3 - 1 514 c.475C>T c.(475-477)Cat>Tat p.H159Y NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 159 keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) TGGCCACAATGGGGCCTGTAG 0.617000 30 15 0 0 0.002096 0 0 TCF25 22980 broad.mit.edu 37 16 89954071 89954071 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:89954071C>T ENST00000263346.8 + 5 616 c.560C>T c.(559-561)cCa>cTa p.P187L TCF25_ENST00000263347.7_5'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 187 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) CACTTGAATCCAGACACAGAA 0.428000 20 49 0 0 0.001523 0 0 ITGA4 3676 broad.mit.edu 37 2 182388248 182388248 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:182388248C>T ENST00000397033.2 + 19 2588 c.2158C>T c.(2158-2160)Cat>Tat p.H720Y NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 720 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATATGTAGATCATCTCTCAAG 0.328000 7 23 0 0 0.001984 0 0 ABCA13 154664 broad.mit.edu 37 7 48316082 48316082 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:48316082C>T ENST00000435803.1 + 17 6843 c.6819C>T c.(6817-6819)tcC>tcT p.S2273S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2273 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CATTCTTCTCCCTTTTTCTAA 0.343000 14 38 0 0 0.003163 0 0 PTPRB 5787 broad.mit.edu 37 12 70953309 70953309 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:70953309C>T ENST00000334414.6 - 18 4572 c.4528G>A c.(4528-4530)Gac>Aac p.D1510N PTPRB_ENST00000550358.1_Missense_Mutation_p.D1422N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1509N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1202N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1202N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1292N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1202N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1292 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCTCAAAGTCGTTGTAGTCT 0.498000 70 114 0 0 0.003610 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840680 1840680 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr17:1840680C>T ENST00000331238.5 - 2 454 c.436G>A c.(436-438)Ggc>Agc p.G146S NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 146 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 TGCAGGCCGCCAAAGACGCCG 0.627000 26 31 0 0 0.004656 0 0 SLC9C2 284525 broad.mit.edu 37 1 173486750 173486750 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:173486750C>T ENST00000367714.3 - 23 3255 c.2833G>A c.(2833-2835)Gac>Aac p.D945N SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 945 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CCAATTATGTCCCCAGTAGTA 0.398000 29 127 0 0 0.007291 0 0 HAS1 3036 broad.mit.edu 37 19 52222589 52222589 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr19:52222589G>A ENST00000540069.2 - 2 629 c.569C>T c.(568-570)cCt>cTt p.P190L HAS1_ENST00000601714.1_Missense_Mutation_p.P198L|HAS1_ENST00000594621.1_Missense_Mutation_p.P45L|HAS1_ENST00000222115.1_Missense_Mutation_p.P191L Q92839 HAS1_HUMAN hyaluronan synthase 1 191 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CAGCCGCCCAGGATCCTCCGC 0.716000 4 13 0 0 0.000248 0 0 UROC1 131669 broad.mit.edu 37 3 126224622 126224622 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:126224622G>A ENST00000290868.2 - 8 788 c.735C>T c.(733-735)gtC>gtT p.V245V UROC1_ENST00000383579.3_Silent_p.V245V NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 245 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GCCCAGAGGTGACAAAGACCT 0.632000 17 32 0 0 0.007413 0 0 RSPO2 340419 broad.mit.edu 37 8 109001367 109001367 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:109001367C>T ENST00000276659.5 - 3 820 c.200G>A c.(199-201)gGg>gAg p.G67E RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 67 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CTGGCGCATCCCTTCTCTTCG 0.473000 25 49 0 0 0.003330 0 0 OR51M1 390059 broad.mit.edu 37 11 5411279 5411279 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:5411279C>T ENST00000328611.3 + 1 673 c.651C>T c.(649-651)ttC>ttT p.F217F AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 217 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGTAGTTTTCACTGTGATGC 0.537000 38 46 0 0 0.003755 0 0 PRAMEF22 653606 broad.mit.edu 37 1 13036627 13036627 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:13036627G>A ENST00000376187.1 + 2 699 c.699G>A c.(697-699)atG>atA p.M233I PRAMEF6_ENST00000376192.5_Intron NM_001100631.1 NP_001094101.1 A3QJZ6 PRA22_HUMAN PRAME family member 22 233 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 TGAGCCAGATGAGGAATCTTC 0.458000 54 179 0 0 0.003610 0 0 TMEM5 10329 broad.mit.edu 37 12 64202862 64202862 + Missense_Mutation SNP A A G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr12:64202862A>G ENST00000537373.1 + 6 1490 c.542A>G c.(541-543)aAt>aGt p.N181S TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000261234.6_Missense_Mutation_p.N441S NM_001278237.1 NP_001265166.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 441 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) TTAATGAATAATAAAAGTTAA 0.254000 6 7 0 0 0.001168 0 0 FAM193A 8603 broad.mit.edu 37 4 2695495 2695495 + Missense_Mutation SNP A A C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr4:2695495A>C ENST00000324666.5 + 14 2464 c.2113A>C c.(2113-2115)Aca>Cca p.T705P FAM193A_ENST00000545951.1_Missense_Mutation_p.T705P|FAM193A_ENST00000502458.1_Missense_Mutation_p.T727P|FAM193A_ENST00000505311.1_Missense_Mutation_p.T705P|FAM193A_ENST00000382839.3_Missense_Mutation_p.T705P NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 705 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 ATTCCCCAAAACAGCAACCAC 0.607000 65 78 0 0 0.003610 0 0 CDS2 8760 broad.mit.edu 37 20 5170841 5170841 + Silent SNP C C T rs138757559 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:5170841C>T ENST00000460006.1 + 13 1606 c.1299C>T c.(1297-1299)atC>atT p.I433I CDS2_ENST00000535100.1_Silent_p.I203I|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.I313I NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 433 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 CTCATCTGATCGACAAAGGGA 0.562000 19 16 0 0 0.008871 0 0 GRIN1 2902 broad.mit.edu 37 9 140058347 140058347 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:140058347G>A ENST00000371561.3 + 18 3677 c.2580G>A c.(2578-2580)aaG>aaA p.K860K GRIN1_ENST00000371559.4_Silent_p.K860K|GRIN1_ENST00000371550.4_Silent_p.K860K|GRIN1_ENST00000371560.3_Silent_p.K881K|GRIN1_ENST00000371546.4_Silent_p.K881K|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Silent_p.K881K|GRIN1_ENST00000350902.5_Silent_p.K860K|GRIN1_ENST00000371555.4_Silent_p.K881K|GRIN1_ENST00000315048.3_Silent_p.K860K NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 860 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TGTGGCGGAAGAACCTGCAGG 0.652000 35 26 0 0 0.003755 0 0 CSMD1 64478 broad.mit.edu 37 8 3265640 3265640 + Missense_Mutation SNP G G C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr8:3265640G>C ENST00000520002.1 - 15 2410 c.1855C>G c.(1855-1857)Cca>Gca p.P619A CSMD1_ENST00000537824.1_Missense_Mutation_p.P618A|CSMD1_ENST00000539096.1_Missense_Mutation_p.P618A|CSMD1_ENST00000400186.3_Missense_Mutation_p.P619A|CSMD1_ENST00000542608.1_Missense_Mutation_p.P618A|CSMD1_ENST00000602557.1_Missense_Mutation_p.P619A|CSMD1_ENST00000602723.1_Missense_Mutation_p.P619A Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 619 CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CGACTTCCTGGCTCCGAGATA 0.408000 5 21 0 0 0.001168 0 0 DDX20 11218 broad.mit.edu 37 1 112308368 112308368 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:112308368C>T ENST00000475700.1 + 3 2504 c.146C>T c.(145-147)cCt>cTt p.P49L DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000369702.4_Missense_Mutation_p.P441L Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 441 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATCCCATTCCTTCTGGTCTG 0.353000 37 87 0 0 0.005524 0 0 ECI1 1632 broad.mit.edu 37 16 2290030 2290030 + Nonsense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:2290030G>A ENST00000301729.4 - 7 906 c.859C>T c.(859-861)Cag>Tag p.Q287* ECI1_ENST00000562238.1_Nonsense_Mutation_p.Q270*|ECI1_ENST00000570258.1_Nonsense_Mutation_p.Q228* NM_001919.3 NP_001910.2 P42126 ECI1_HUMAN enoyl-CoA delta isomerase 1 287 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity endometrium(1)|large_intestine(2)|lung(6) 9 AGGGACTTCTGGATGGAGTCT 0.582000 21 47 0 0 0.002780 0 0 LRRK1 79705 broad.mit.edu 37 15 101523787 101523787 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:101523787C>T ENST00000284395.5 + 4 635 c.235C>T c.(235-237)Cta>Tta p.L79L LRRK1_ENST00000532029.2_Silent_p.L106L|LRRK1_ENST00000388948.3_Silent_p.L106L Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 106 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGTCCGCTACCTACTCAGCAA 0.577000 73 41 0 0 0.003610 0 0 PARP6 56965 broad.mit.edu 37 15 72551976 72551976 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr15:72551976G>A ENST00000569795.1 - 11 1470 c.783C>T c.(781-783)ccC>ccT p.P261P PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Silent_p.P261P|PARP6_ENST00000260376.7_Silent_p.P261P Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 261 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 ACTCCAGAGTGGGAATGTTCT 0.502000 104 88 0 0 0.003610 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574090 140574090 + Silent SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr5:140574090C>T ENST00000239446.4 + 1 2149 c.1965C>T c.(1963-1965)acC>acT p.T655T NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 655 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCGGCCACCGCCACGCTGC 0.711000 30 8 0 0 0.006320 0 0 ACP2 53 broad.mit.edu 37 11 47266325 47266325 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr11:47266325C>T ENST00000256997.3 - 7 849 c.733G>A c.(733-735)Gga>Aga p.G245R ACP2_ENST00000529444.1_Missense_Mutation_p.G182R|ACP2_ENST00000527256.1_Missense_Mutation_p.G213R|ACP2_ENST00000537863.1_Missense_Mutation_p.G58R|ACP2_ENST00000533929.1_Missense_Mutation_p.G217R|ACP2_ENST00000525230.1_5'UTR NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 245 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 TGGTAGATTCCGAAGAGGAAG 0.602000 35 46 0 0 0.005524 0 0 LUZP1 7798 broad.mit.edu 37 1 23417786 23417786 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:23417786G>A ENST00000302291.4 - 4 3770 c.2969C>T c.(2968-2970)tCc>tTc p.S990F LUZP1_ENST00000314174.5_Missense_Mutation_p.S990F|LUZP1_ENST00000374623.3_Missense_Mutation_p.S990F|LUZP1_ENST00000418342.1_Missense_Mutation_p.S990F Q86V48 LUZP1_HUMAN leucine zipper protein 1 990 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GGTCCTTCTGGAGGAGGGCTC 0.577000 16 29 0 0 0.004007 0 0 OR2L2 26246 broad.mit.edu 37 1 248201573 248201573 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:248201573G>A ENST00000366479.2 + 1 100 c.4G>A c.(4-6)Gaa>Aaa p.E2K OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATTCCCCATGGAAAATTACAA 0.388000 56 50 0 0 0.003610 0 0 XPR1 9213 broad.mit.edu 37 1 180849298 180849298 + Frame_Shift_Del DEL C C - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:180849298delC ENST00000367590.4 + 14 2093 c.1895delC c.(1894-1896)gcfs p.A632fs XPR1_ENST00000367589.3_Frame_Shift_Del_p.A567fs NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 632 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 ATCTCTGTGGCCCCCCTGAAC 0.507 74 30 --- --- --- --- RP11-634B7.4 0 broad.mit.edu 37 1 247836369 247836369 + RNA DEL A A - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr1:247836369delA ENST00000449298.1 + 0 681 GAATGGCAGTAATTGCACAGA 0.408 42 23 --- --- --- --- ICA1L 130026 broad.mit.edu 37 2 203682140 203682140 + Splice_Site DEL C C - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr2:203682140delC ENST00000392237.2 - 7 842 c.e7+1 ICA1L_ENST00000358299.2_Splice_Site NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGGTGGGTACCTGGTAGGTA 0.383 140 126 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 3 3 --- --- --- --- CLDN1 9076 broad.mit.edu 37 3 190039919 190039920 + Frame_Shift_Ins INS - - C TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr3:190039919_190039920insC ENST00000295522.3 - 1 344_345 c.76_77insG c.(76-78)cctfs p.P26fs NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 26 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CTGGGGCAGGGCAGTGCTGACG 0.658 31 74 --- --- --- --- RIMS1 22999 broad.mit.edu 37 6 72952079 72952079 + Frame_Shift_Del DEL A A - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr6:72952079delA ENST00000264839.7 + 10 2020 c.2020delA c.(2020-2022)acfs p.N674fs RIMS1_ENST00000523963.1_Frame_Shift_Del_p.N148fs|RIMS1_ENST00000522291.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000425662.2_Frame_Shift_Del_p.N67fs|RIMS1_ENST00000517827.1_Frame_Shift_Del_p.N133fs|RIMS1_ENST00000521978.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000520567.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000518273.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000517960.1_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000401910.3_Frame_Shift_Del_p.N148fs|RIMS1_ENST00000491071.2_Frame_Shift_Del_p.N674fs|RIMS1_ENST00000348717.5_Frame_Shift_Del_p.N674fs Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 674 PDZ. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGAAGTTTACAACATTATTTT 0.308 4 7 --- --- --- --- ASZ1 136991 broad.mit.edu 37 7 117003732 117003734 + In_Frame_Del DEL CTA CTA - TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr7:117003732_117003734delCTA ENST00000284629.2 - 13 1406_1408 c.1344_1346delTAG c.(1342-1347)aga>ag p.SR448del NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 448 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CTTCAAAATTCTACTATTCCATG 0.320 36 33 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 4 5 --- --- --- --- TPTE2P6 374491 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 4 8 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR|ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 6 13 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 3 4 --- --- --- --- SLCO4A1 28231 broad.mit.edu 37 20 61303154 61303164 + Frame_Shift_Del DEL CGGAGTCTTCA CGGAGTCTTCA - rs149499822 byFrequency TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr20:61303154_61303164delCGGAGTCTTCA ENST00000217159.1 + 12 2283_2293 c.2078_2088delCGGAGTCTTCA c.(2077-2088)tfs p.SESS693fs SLCO4A1_ENST00000370507.1_Frame_Shift_Del_p.SESS693fs NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 693 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) AAGCCCCTGTCGGAGTCTTCAGATGGCCTGG 0.640 18 106 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194933 28194934 + In_Frame_Ins INS - - TGC rs34890218 TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1d9a5b7-b819-458b-aadc-c95bf555c623 50d0e663-73a7-4eed-a158-a481ba0d5349 g.chr22:28194933_28194934insTGC ENST00000302326.4 - 1 2552_2553 c.1598_1599insGCA c.(1597-1599)cca>cGCAca p.533_533P>RT NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 533 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgctgttgctgctgctg 0.653 T ETV6 """AML, meningioma""" 4 9 --- --- --- ---