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 SYNE2 23224 broad.mit.edu 37 14 64427480 64427480 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:64427480A>G ENST00000341472.5 + 9 1017 c.814A>G c.(814-816)Aga>Gga p.R272G SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000358025.3_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4489 Actin-binding.|CH 2. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGCACTTTACAGAATTTATAT 0.423000 14 25 0 0 1 0 0 AGR3 155465 broad.mit.edu 37 7 16913467 16913467 + Splice_Site SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:16913467C>T ENST00000310398.2 - 3 180 c.110G>A c.(109-111)gGa>gAa p.G37E AGR3_ENST00000402239.3_Splice_Site_p.G37E NM_176813.3 NP_789783.1 Q8TD06 AGR3_HUMAN anterior gradient 3 37 extracellular region central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) ATCTCCCCATCCTGAAATAGA 0.353000 26 47 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65571896 65571896 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:65571896C>T ENST00000356388.4 - 2 350 c.161G>A c.(160-162)cGa>cAa p.R54Q SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.R51Q NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 54 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 AAAGCCGCTTCGTCCATTGCC 0.512000 14 22 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30676371 30676371 + Splice_Site SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:30676371G>T ENST00000534862.1 + 11 1319 c.956G>T c.(955-957)gGa>gTa p.G319V HCK_ENST00000520553.1_Splice_Site_p.G318V|HCK_ENST00000518730.1_Splice_Site_p.G317V|HCK_ENST00000375862.2_Splice_Site_p.G338V|HCK_ENST00000375852.2_Splice_Site_p.G339V|HCK_ENST00000538448.1_Splice_Site_p.G318V NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 339 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.G339E(1)|p.G318E(1) NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCCCATATAGGAAGCTTGCTG 0.443000 29 99 6.38683e-12 6.74166e-12 1 1 0 OXER1 165140 broad.mit.edu 37 2 42990228 42990228 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:42990228G>A ENST00000378661.2 - 1 1173 c.1092C>T c.(1090-1092)caC>caT p.H364H NM_148962.4 NP_683765.1 Q8TDS5 OXER1_HUMAN oxoeicosanoid (OXE) receptor 1 364 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 CCCGGCTCTGGTGGAGGAAGT 0.657000 31 39 0 0 1 0 0 WNT7B 7477 broad.mit.edu 37 22 46319096 46319096 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:46319096C>T ENST00000339464.4 - 4 1064 c.690G>A c.(688-690)gaG>gaA p.E230E WNT7B_ENST00000409496.3_Silent_p.E234E|WNT7B_ENST00000410089.1_Silent_p.E214E NM_058238.2 NP_478679.1 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, member 7B 230 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 19 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) CGTTGTACTTCTCCTTCAGCA 0.642000 31 43 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1805533 1805533 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:1805533C>T ENST00000440486.2 + 8 1301 c.1045C>T c.(1045-1047)Cat>Tat p.H349Y FGFR3_ENST00000481110.2_Missense_Mutation_p.H349Y|FGFR3_ENST00000260795.2_Missense_Mutation_p.H349Y|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron NM_000142.4 NP_000133.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 349 Ig-like C2-type 3. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TGGGTTTTCTCATCACTCTGC 0.612000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 96 30 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119013596 119013596 + Silent SNP T T C rs11568720 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:119013596T>C ENST00000298472.5 + 5 704 c.561T>C c.(559-561)atT>atC p.I187I SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 187 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) TCCTGCTGATTGCCAGGTCGC 0.607000 70 138 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233836 21233836 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:21233836G>A ENST00000233242.1 - 26 6031 c.5904C>T c.(5902-5904)gtC>gtT p.V1968V NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 1968 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) GCAGGGCACTGACTTTGTGTT 0.453000 56 105 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100797869 100797869 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:100797869T>C ENST00000323346.5 + 9 1420 c.1107T>C c.(1105-1107)atT>atC p.I369I SLC17A8_ENST00000392989.3_Silent_p.I319I NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 369 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TTGTACCTATTGGAGGACAAT 0.403000 31 67 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76866987 76866987 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:76866987G>A ENST00000262768.7 - 3 631 c.333C>T c.(331-333)ctC>ctT p.L111L TIMP2_ENST00000586057.1_Silent_p.L34L|TIMP2_ENST00000536189.2_Silent_p.L34L|TIMP2_ENST00000585421.1_Silent_p.L34L NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 111 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) CACCTGCAATGAGATATTCCT 0.582000 90 103 0 0 1 0 0 COMTD1 118881 broad.mit.edu 37 10 76993951 76993951 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:76993951C>T ENST00000372538.3 - 7 751 c.669G>A c.(667-669)ccG>ccA p.P223P COMTD1_ENST00000460899.1_5'UTR NM_144589.2 NP_653190.2 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 1 223 integral to membrane O-methyltransferase activity central_nervous_system(1)|large_intestine(1)|lung(1) 3 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) CGTCCCCTTTCGGAGGTTGCA 0.697000 26 54 0 0 1 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356096 22356096 + RNA SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:22356096A>G ENST00000390437.2 + 0 60 GCATTTTTTAAGGGTTTAAAA 0.343000 10 27 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86670043 86670043 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:86670043C>T ENST00000456692.2 + 14 1424 c.1309C>T c.(1309-1311)Cca>Tca p.P437S RASA1_ENST00000506290.1_Missense_Mutation_p.P448S|RASA1_ENST00000274376.6_Missense_Mutation_p.P614S|RASA1_ENST00000512763.1_Missense_Mutation_p.P447S NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 614 SH2 2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TTTTACTAATCCATATTGTAA 0.338000 27 30 0 0 1 0 0 VTI1B 10490 broad.mit.edu 37 14 68123177 68123177 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:68123177C>T ENST00000554659.1 - 4 837 c.496G>A c.(496-498)Gag>Aag p.E166K NM_006370.2 NP_006361.1 Q9UEU0 VTI1B_HUMAN vesicle transport through interaction with t-SNAREs 1B 166 cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis endomembrane system|integral to membrane endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941) TCCCCCAGCTCTTCTATGATT 0.522000 86 168 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91603051 91603051 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:91603051T>C ENST00000359028.2 + 3 336 c.111T>C c.(109-111)gcT>gcC p.A37A AKAP9_ENST00000394564.1_Silent_p.A25A|AKAP9_ENST00000356239.3_Silent_p.A25A|AKAP9_ENST00000358100.2_Silent_p.A37A Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 37 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAGAAAAGCTCAGTCGGATG 0.368000 T BRAF papillary thyroid 17 34 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9561367 9561367 + Missense_Mutation SNP C C A rs144997856 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:9561367C>A ENST00000378429.3 - 5 961 c.415G>T c.(415-417)Gct>Tct p.A139S PAK7_ENST00000353224.5_Missense_Mutation_p.A139S|PAK7_ENST00000378423.1_Missense_Mutation_p.A139S NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 139 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GTGTAGTCAGCAGTAGTATCG 0.537000 10 183 4.68919e-08 4.87236e-08 1 1 0 RLIM 51132 broad.mit.edu 37 X 73812256 73812256 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:73812256T>C ENST00000332687.6 - 4 1112 c.894A>G c.(892-894)gcA>gcG p.A298A RLIM_ENST00000349225.2_Silent_p.A298A NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 298 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTGAAGAACCTGCTCCTTGAG 0.488000 34 15 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10231294 10231294 + Silent SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:10231294A>G ENST00000418404.3 - 21 2743 c.2580T>C c.(2578-2580)ttT>ttC p.F860F RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.F860F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 860 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGGTCCTCTCAAAGTCTTCCT 0.547000 OREG0024177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 20 0 0 1 0 0 TLK1 9874 broad.mit.edu 37 2 172016855 172016855 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:172016855C>T ENST00000360843.3 - 1 488 c.84G>A c.(82-84)gcG>gcA p.A28A TLK1_ENST00000521943.1_Intron|TLK1_ENST00000442919.2_5'UTR|TLK1_ENST00000431350.2_Silent_p.A28A Q9UKI8 TLK1_HUMAN tousled-like kinase 1 28 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TGGCCGCCGCCGCCGAGCCCG 0.682000 4 50 0 0 1 0 0 RFXANK 8625 broad.mit.edu 37 19 19308943 19308943 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:19308943G>C ENST00000303088.4 + 7 940 c.466G>C c.(466-468)Gag>Cag p.E156Q RFXANK_ENST00000392324.4_Missense_Mutation_p.E133Q|RFXANK_ENST00000353145.1_Missense_Mutation_p.E133Q|RFXANK_ENST00000456252.3_Missense_Mutation_p.E134Q|RFXANK_ENST00000407360.3_Missense_Mutation_p.E156Q NM_003721.2 NP_003712.1 O14593 RFXK_HUMAN regulatory factor X-associated ankyrin-containing protein 156 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1) 14 Epithelial(12;0.00228) CCTGGCAAAAGAGCGAGAGAG 0.597000 74 165 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44969330 44969330 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:44969330G>T ENST00000377967.4 + 28 4053 c.4012G>T c.(4012-4014)Gtt>Ttt p.V1338F KDM6A_ENST00000543216.1_Missense_Mutation_p.V1259F|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Missense_Mutation_p.V1293F|KDM6A_ENST00000382899.4_Missense_Mutation_p.V1345F NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1338 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ACAGGTGGAGGTTTTTGATCT 0.338000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 36 23 1.08052e-11 1.13604e-11 1 1 0 BUB1B 701 broad.mit.edu 37 15 40488917 40488917 + Missense_Mutation SNP C C G rs61733369 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:40488917C>G ENST00000287598.6 + 9 1425 c.1230C>G c.(1228-1230)ttC>ttG p.F410L BUB1B_ENST00000412359.3_Missense_Mutation_p.F424L NM_001211.5 NP_001202 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 410 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TAGGGGAATTCTCCTTTGAAG 0.408000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 51 94 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6045538 6045538 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:6045538C>G ENST00000265849.7 - 2 253 c.148G>C c.(148-150)Ggt>Cgt p.G50R PMS2_ENST00000382321.4_Missense_Mutation_p.G50R|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G50R NM_000535.5 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 50 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) TTAGTGGCACCAGCATCCAGA 0.398000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 175 379 0 0 1 0 0 DDHD2 23259 broad.mit.edu 37 8 38095721 38095721 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:38095721C>A ENST00000397166.2 + 5 1141 c.616C>A c.(616-618)Cat>Aat p.H206N DDHD2_ENST00000520272.2_Missense_Mutation_p.H206N NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 206 lipid catabolic process centrosome hydrolase activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) TGTTGACATTCATTGTGGTAA 0.418000 32 63 3.03874e-20 3.2992e-20 1 1 0 KRT15 3866 broad.mit.edu 37 17 39674601 39674601 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:39674601A>G ENST00000254043.3 - 1 4064 c.479T>C c.(478-480)aTt>aCt p.I160T KRT15_ENST00000393976.2_Missense_Mutation_p.I160T|KRT15_ENST00000393974.3_Silent_p.L23L|KRT15_ENST00000393981.3_Silent_p.L23L NM_002275.3 NP_002266 P19012 K1C15_HUMAN keratin 15 160 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) GAGCTCTTCAATGGTCTTGAA 0.537000 82 81 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241421610 241421610 + Nonsense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:241421610C>A ENST00000391987.1 - 16 2974 c.2608G>T c.(2608-2610)Gag>Tag p.E870* ANKMY1_ENST00000373320.4_Nonsense_Mutation_p.E640*|ANKMY1_ENST00000403283.1_Nonsense_Mutation_p.E772*|ANKMY1_ENST00000272972.3_Nonsense_Mutation_p.E870*|ANKMY1_ENST00000401804.1_Nonsense_Mutation_p.E959*|ANKMY1_ENST00000361678.4_Nonsense_Mutation_p.E646*|ANKMY1_ENST00000373318.2_Nonsense_Mutation_p.E649*|ANKMY1_ENST00000406958.1_Nonsense_Mutation_p.E631* NM_001282771.1 NP_001269700.1 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 870 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TGCCCCTGCTCCTTCACATCC 0.612000 34 70 1.30998e-17 1.41649e-17 1 1 0 ARID1A 8289 broad.mit.edu 37 1 27101586 27101586 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:27101586C>T ENST00000324856.7 + 18 5239 c.4868C>T c.(4867-4869)tCg>tTg p.S1623L ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1406L|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1240L NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1623 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GTACCTGCCTCGCACATAGCA 0.602000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 52 78 0 0 1 0 0 IGHV3-72 28410 broad.mit.edu 37 14 107199009 107199009 + RNA SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:107199009C>T ENST00000433072.2 - 0 359 TTTGAATCATCTCTTGAGATG 0.502000 77 165 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329086 88329086 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:88329086G>A ENST00000325089.6 + 2 1662 c.1443G>A c.(1441-1443)caG>caA p.Q481Q SLITRK5_ENST00000400028.3_Silent_p.Q240Q NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 481 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ATGGCCTGCAGAGCCTGCAGT 0.537000 49 70 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72146982 72146982 + Nonsense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:72146982G>C ENST00000305425.4 - 4 1717 c.1295C>G c.(1294-1296)tCa>tGa p.S432* DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Nonsense_Mutation_p.S484*|DACH1_ENST00000354591.4_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 482 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CTTAATAACTGATGTCTCAAC 0.398000 42 83 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23017195 23017195 + Missense_Mutation SNP T T G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:23017195T>G ENST00000255008.3 + 1 1139 c.1075T>G c.(1075-1077)Tgc>Ggc p.C359G RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 359 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGGGGCAGGGTGCATGTGCCC 0.652000 40 28 0 0 1 0 0 ACAD8 27034 broad.mit.edu 37 11 134131509 134131509 + Silent SNP A A G rs7943666 by1000genomes TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:134131509A>G ENST00000543332.1 + 8 821 c.654A>G c.(652-654)caA>caG p.Q218Q ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Intron|ACAD8_ENST00000281182.4_Intron Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 316 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) AGAAAAAGCAAGAGACTTTGA 0.443000 2 4 0 0 1 0 0 RLBP1 6017 broad.mit.edu 37 15 89760379 89760379 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:89760379G>A ENST00000268125.5 - 5 757 c.318C>T c.(316-318)aaC>aaT p.N106N NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 106 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) CACGGCCCACGTTGAACTTCC 0.657000 18 41 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27276416 27276416 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:27276416G>A ENST00000360131.4 + 3 521 c.362G>A c.(361-363)cGc>cAc p.R121H AGBL5_ENST00000323064.8_Missense_Mutation_p.R121H NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 121 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCTGGGAACGCATTCGAGAC 0.498000 35 109 0 0 1 0 0 MCOLN3 55283 broad.mit.edu 37 1 85498432 85498432 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:85498432G>C ENST00000370587.1 - 7 1055 c.679C>G c.(679-681)Ctg>Gtg p.L227V WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Missense_Mutation_p.L227V|MCOLN3_ENST00000341115.4_Missense_Mutation_p.L171V Q8TDD5 MCLN3_HUMAN mucolipin 3 227 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) ACTGTCTGCAGATTAATGGCT 0.408000 104 75 0 0 1 0 0 ASB8 140461 broad.mit.edu 37 12 48547243 48547243 + Nonsense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:48547243G>A ENST00000317697.3 - 2 206 c.37C>T c.(37-39)Cag>Tag p.Q13* ASB8_ENST00000536953.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000540782.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000535988.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000536071.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000536549.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000535055.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000539528.1_Nonsense_Mutation_p.Q13*|ASB8_ENST00000537754.1_Intron NM_024095.3 NP_077000.1 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box containing 8 13 intracellular signal transduction cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1) 11 TATTTGCTCTGAATGCTCTGC 0.448000 55 81 0 0 1 0 0 CPLX3 594855 broad.mit.edu 37 15 75122674 75122674 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:75122674T>C ENST00000395018.4 + 3 613 c.456T>C c.(454-456)gcT>gcC p.A152A RP11-414J4.2_ENST00000564823.1_RNA NM_001030005.2 NP_001025176.1 Q8WVH0 CPLX3_HUMAN complexin 3 152 cell junction|synapse syntaxin binding large_intestine(2)|lung(2) 4 AGCAATCAGCTGAGAAGTGTC 0.602000 14 29 0 0 1 0 0 CYB5R1 51706 broad.mit.edu 37 1 202936373 202936373 + Translation_Start_Site SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:202936373G>C ENST00000367249.4 - 0 35 NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(75;0.141) CAAGCCGACAGATCCCACAAT 0.716000 10 20 0 0 1 0 0 TMEM255B 348013 broad.mit.edu 37 13 114498181 114498181 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:114498181G>A ENST00000375353.3 + 4 340 c.313G>A c.(313-315)Gtg>Atg p.V105M NM_182614.2 NP_872420.1 transmembrane protein 255B CTGCGCCATCGTGGACGGCGT 0.527000 52 57 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998594 46998594 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:46998594G>A ENST00000599531.1 - 1 1161 c.129C>T c.(127-129)ctC>ctT p.L43L PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Silent_p.L43L|AC011484.1_ENST00000377652.3_3'UTR NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 43 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ccaggggcaggagggtcggct 0.667000 38 165 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33368255 33368255 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr21:33368255G>T ENST00000270112.2 + 10 1840 c.1480G>T c.(1480-1482)Gac>Tac p.D494Y NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 494 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 CAGCTTCCCCGACAAAGGTGG 0.602000 10 24 7.48243e-07 7.71444e-07 1 1 0 LTN1 26046 broad.mit.edu 37 21 30307608 30307608 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr21:30307608T>C ENST00000389194.2 - 27 4841 c.4836A>G c.(4834-4836)tcA>tcG p.S1612S LTN1_ENST00000361371.5_Silent_p.S1566S NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1566 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TATGATAGACTGAACAAGCCA 0.343000 15 34 0 0 1 0 0 KIAA1430 57587 broad.mit.edu 37 4 186111756 186111756 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:186111756C>T ENST00000458385.2 - 2 714 c.595G>A c.(595-597)Gat>Aat p.D199N KIAA1430_ENST00000296775.6_Missense_Mutation_p.D199N|KIAA1430_ENST00000514798.1_Missense_Mutation_p.D199N NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN KIAA1430 199 Ser-rich. endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) GGAGACGAATCAGATAGATGG 0.403000 18 4 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155922418 155922418 + Splice_Site SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:155922418C>A ENST00000462460.2 - 19 2374 c.e19+1 ARHGEF2_ENST00000368316.1_Splice_Site|ARHGEF2_ENST00000313667.4_Splice_Site|ARHGEF2_ENST00000313695.7_Splice_Site|ARHGEF2_ENST00000368315.4_Splice_Site|ARHGEF2_ENST00000361247.4_Splice_Site|ARHGEF2_ENST00000477754.2_Intron Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AGCTCCCTCACCCTCACGGAT 0.607000 30 49 2.46105e-21 2.69399e-21 1 1 0 ZNF641 121274 broad.mit.edu 37 12 48736909 48736909 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:48736909C>T ENST00000544117.2 - 6 1872 c.1164G>A c.(1162-1164)gtG>gtA p.V388V ZNF641_ENST00000301042.3_Silent_p.V388V|ZNF641_ENST00000448928.3_Silent_p.V365V|ZNF641_ENST00000547026.1_Silent_p.V374V Q96N77 ZN641_HUMAN zinc finger protein 641 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.V388V(1) breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 GCCAGTGTCTCACAAGGTGGT 0.597000 14 179 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27100988 27100988 + Nonsense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:27100988C>T ENST00000324856.7 + 18 4641 c.4270C>T c.(4270-4272)Cag>Tag p.Q1424* ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1041* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1424 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1424*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCTTCCCCTCAGCAAGATGT 0.622000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 40 68 0 0 1 0 0 PRKCSH 5589 broad.mit.edu 37 19 11559788 11559788 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:11559788C>T ENST00000252455.2 + 15 1661 c.1325C>T c.(1324-1326)tCt>tTt p.S442F PRKCSH_ENST00000591462.1_Missense_Mutation_p.S439F|PRKCSH_ENST00000592741.1_Missense_Mutation_p.S449F|PRKCSH_ENST00000589838.1_Missense_Mutation_p.S442F|PRKCSH_ENST00000412601.1_Missense_Mutation_p.S439F|PRKCSH_ENST00000587327.1_Missense_Mutation_p.S439F NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 442 PRKCSH. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 CTCGGGGGCTCTCCCACCAGC 0.642000 77 145 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78676636 78676636 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:78676636C>T ENST00000436010.2 - 24 4590 c.3593G>A c.(3592-3594)cGa>cAa p.R1198Q ROBO1_ENST00000464233.1_Missense_Mutation_p.R1237Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1137Q|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1192Q Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1237 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AGTGGGGCCTCGTTCATCTTC 0.507000 18 28 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24856260 24856260 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:24856260G>A ENST00000313367.2 - 18 2447 c.1996C>T c.(1996-1998)Cca>Tca p.P666S OSBPL3_ENST00000396429.1_Missense_Mutation_p.P630S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P599S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P630S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P635S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P635S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P599S NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 666 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GTGCCAATTGGAACAATTTCC 0.398000 74 116 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 10022460 10022460 + Splice_Site SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:10022460C>T ENST00000256190.8 - 8 999 c.e8+1 SBF2_ENST00000527019.1_Splice_Site NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TGAATACTTACAAGTTCATGG 0.363000 24 13 0 0 1 0 0 EIF3E 3646 broad.mit.edu 37 8 109240615 109240615 + Silent SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:109240615C>G ENST00000220849.5 - 7 665 c.603G>C c.(601-603)gtG>gtC p.V201V EIF3E_ENST00000519030.1_Silent_p.V108V|EIF3E_ENST00000519517.1_5'UTR NM_001568.2 NP_001559.1 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, subunit E 201 negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding EIF3E/RSPO2(6) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) GTGGAGAACTCACAGACTAAA 0.333000 37 75 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990422 47990422 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:47990422C>G ENST00000371741.4 - 2 1841 c.1675G>C c.(1675-1677)Gaa>Caa p.E559Q NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 559 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) ATTTCAAGTTCTTCCTTTGGT 0.493000 81 174 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94310554 94310554 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:94310554A>G ENST00000299001.6 + 4 620 c.409A>G c.(409-411)Aga>Gga p.R137G RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 137 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTTAGCATCTAGAAGGCTGAG 0.383000 4 52 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3704662 3704662 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:3704662C>T ENST00000324932.7 - 30 5106 c.4686G>A c.(4684-4686)gaG>gaA p.E1562E NUP98_ENST00000355260.3_Silent_p.E1488E|NUP98_ENST00000359171.4_Silent_p.E1488E NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1579 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GAACAGCCTTCTCACGTATGC 0.537000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 34 17 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160006935 160006935 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:160006935G>A ENST00000263635.6 + 7 787 c.550G>A c.(550-552)Gca>Aca p.A184T TANC1_ENST00000454300.1_Intron NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 184 Ser-rich. cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AAGCAGCACCGCATCTCCTAG 0.527000 26 51 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43838679 43838679 + Missense_Mutation SNP C C T rs141628178 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr21:43838679C>T ENST00000319294.6 + 7 1038 c.1007C>T c.(1006-1008)aCg>aTg p.T336M UBASH3A_ENST00000398367.1_Missense_Mutation_p.T298M|UBASH3A_ENST00000291535.6_Missense_Mutation_p.T298M NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 336 SH3. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GAAAACTACACGGATCGAGCC 0.612000 20 28 0 0 1 0 0 EMC3-AS1 442075 broad.mit.edu 37 3 10029522 10029522 + RNA SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:10029522G>A ENST00000326237.3 + 0 354 TGTCATGGTTGAGAGACTGGA 0.388000 7 9 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176833476 176833476 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:176833476C>T ENST00000367654.3 - 23 4064 c.3853G>A c.(3853-3855)Gag>Aag p.E1285K ASTN1_ENST00000361833.2_Missense_Mutation_p.E1277K|ASTN1_ENST00000367657.3_Intron NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTCTGCTCCTCACACGTCTTC 0.577000 74 102 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94155051 94155051 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:94155051C>A ENST00000553484.1 + 46 7287 c.7133C>A c.(7132-7134)aCc>aAc p.T2378N UNC79_ENST00000256339.4_Missense_Mutation_p.T2179N|UNC79_ENST00000555664.1_Missense_Mutation_p.T2317N|UNC79_ENST00000393151.2_Missense_Mutation_p.T2356N Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2356 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CATGAAGATACCTTTGGGGGA 0.502000 38 69 1.60099e-16 1.71719e-16 1 1 0 TULP3 7289 broad.mit.edu 37 12 3000150 3000150 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:3000150G>C ENST00000448120.2 + 1 88 c.37G>C c.(37-39)Gac>Cac p.D13H TULP3_ENST00000397132.2_Missense_Mutation_p.D13H NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 13 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TCCCAGCGGCGACAGGTCAGA 0.711000 7 13 0 0 1 0 0 LOC494141 494141 broad.mit.edu 37 11 18231289 18231289 + Missense_Mutation SNP C C A rs4757627 by1000genomes TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:18231289C>A ENST00000527059.1 + 1 535 c.75C>A c.(73-75)ttC>ttA p.F25L RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.F25L|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.F25L CTAACATCTTCGAAACAAGAT 0.363000 4 60 2.56e-06 2.61908e-06 1 1 0 AGMO 392636 broad.mit.edu 37 7 15430465 15430465 + Splice_Site SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:15430465C>T ENST00000342526.3 - 7 911 c.742G>A c.(742-744)Ggg>Agg p.G248R NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 248 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TTTTACTTACCAAAAATTTTA 0.264000 29 43 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34823439 34823439 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:34823439G>C ENST00000265109.3 + 15 1779 c.1492G>C c.(1492-1494)Gaa>Caa p.E498Q RAI14_ENST00000503673.1_Missense_Mutation_p.E498Q|RAI14_ENST00000512629.1_Missense_Mutation_p.E469Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E501Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E498Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E491Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E490Q NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 498 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) GGCTATGAAAGAAGTCCTTAG 0.438000 37 49 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38135986 38135986 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:38135986C>G ENST00000339363.3 - 15 2727 c.2560G>C c.(2560-2562)Gat>Cat p.D854H RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Missense_Mutation_p.D587H|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.D649H Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 854 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 TCATCCACATCTTCTAGTTTT 0.353000 40 21 0 0 1 0 0 GPI 2821 broad.mit.edu 37 19 34884827 34884827 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:34884827C>G ENST00000415930.3 + 12 1121 c.951C>G c.(949-951)caC>caG p.H317Q GPI_ENST00000586425.1_Missense_Mutation_p.H306Q|GPI_ENST00000356487.5_Missense_Mutation_p.H306Q NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 306 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) AGGACCAGCACTTCCGCACGA 0.627000 106 454 0 0 1 0 0 C5orf48 389320 broad.mit.edu 37 5 125967431 125967431 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:125967431C>A ENST00000357147.3 + 1 18 c.5C>A c.(4-6)gCt>gAt p.A2D NM_207408.1 NP_997291.1 Q6ZNM6 CE048_HUMAN chromosome 5 open reading frame 48 2 large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 7 TCAGGAATGGCTTCAGGGAAA 0.378000 25 76 4.7796e-09 4.98578e-09 1 1 0 TRBV6-8 28599 broad.mit.edu 37 7 142124196 142124196 + RNA SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:142124196G>A ENST00000390376.2 - 0 281 ACACCAGCCTGAGTGGGAAAT 0.507000 146 278 0 0 1 0 0 C21orf128 150147 broad.mit.edu 37 21 43523941 43523941 + Missense_Mutation SNP C C A rs220111 by1000genomes TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr21:43523941C>A ENST00000329015.2 - 2 443 c.292G>T c.(292-294)Gtc>Ttc p.V98F UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400424.2_Intron chromosome 21 open reading frame 128 lung(4) 4 GTCGTGAAGACGTTGATGGAT 0.537000 4 52 2.56e-06 2.61908e-06 1 1 0 ZNF14 7561 broad.mit.edu 37 19 19822176 19822176 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:19822176C>T ENST00000344099.3 - 4 2052 c.1914G>A c.(1912-1914)atG>atA p.M638I NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) CTTTCTCTCCCATATGAGTCC 0.413000 32 69 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242082263 242082263 + Nonsense_Mutation SNP G G A rs144572631 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:242082263G>A ENST00000544142.1 - 1 225 c.31C>T c.(31-33)Cag>Tag p.Q11* PASK_ENST00000403638.3_Missense_Mutation_p.T62I|PASK_ENST00000234040.4_Missense_Mutation_p.T62I|PASK_ENST00000358649.4_Missense_Mutation_p.T62I|PASK_ENST00000539818.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.T62I Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 0 E -> K (in a metastatic melanoma sample; somatic mutation). regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity p.T62I(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) AGAGAGCGCTGTCCTGCTCTG 0.562000 4 50 0 0 1 0 0 C5orf48 389320 broad.mit.edu 37 5 125967495 125967495 + Silent SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:125967495C>G ENST00000357147.3 + 1 82 c.69C>G c.(67-69)ctC>ctG p.L23L NM_207408.1 NP_997291.1 Q6ZNM6 CE048_HUMAN chromosome 5 open reading frame 48 23 large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 7 ATGAGAGTCTCTATAAATCTG 0.398000 27 66 0 0 1 0 0 RBM39 9584 broad.mit.edu 37 20 34312571 34312571 + Missense_Mutation SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:34312571T>C ENST00000361162.6 - 8 992 c.608A>G c.(607-609)gAt>gGt p.D203G RBM39_ENST00000528062.3_Missense_Mutation_p.D181G|RBM39_ENST00000407261.4_Missense_Mutation_p.D46G|RBM39_ENST00000253363.6_Missense_Mutation_p.D203G NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 203 RRM 1. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) TGAGCTAACATCGACGAACTC 0.413000 73 184 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150767332 150767332 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:150767332C>T ENST00000485713.1 + 10 2388 c.1348C>T c.(1348-1350)Ctg>Ttg p.L450L SLC4A2_ENST00000413384.2_Silent_p.L450L|SLC4A2_ENST00000310317.5_Silent_p.L368L|SLC4A2_ENST00000392826.2_Silent_p.L441L|SLC4A2_ENST00000461735.1_Silent_p.L436L NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 450 LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTGGGCTCCCTGCTGGGGCA 0.642000 46 72 0 0 1 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54640370 54640370 + Silent SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:54640370A>G ENST00000230640.5 + 9 1181 c.927A>G c.(925-927)acA>acG p.T309T SKIV2L2_ENST00000545714.1_Silent_p.T208T NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 309 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TTATTTACACAGATTATCGGC 0.348000 16 35 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47147508 47147508 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:47147508G>A ENST00000409792.3 - 6 4860 c.4818C>T c.(4816-4818)ttC>ttT p.F1606F NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1606 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCAGGGCCATGAAATAGTAAT 0.378000 """N, F, S, Mis""" clear cell renal carcinoma 55 130 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5237159 5237159 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:5237159G>A ENST00000274181.7 + 14 2239 c.2101G>A c.(2101-2103)Ggg>Agg p.G701R ADAMTS16_ENST00000513709.1_Intron NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 701 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G701W(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AGTCAAAGATGGGACTCCATG 0.373000 42 96 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32912514 32912514 + Nonsense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:32912514C>G ENST00000544455.1 + 11 4249 c.4022C>G c.(4021-4023)tCa>tGa p.S1341* BRCA2_ENST00000380152.3_Nonsense_Mutation_p.S1341* NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1341 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GGCAGTGATTCAAGTAAAAAT 0.303000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 25 46 0 0 1 0 0 GDNF 2668 broad.mit.edu 37 5 37816164 37816164 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:37816164C>T ENST00000326524.2 - 3 424 c.225G>A c.(223-225)ctG>ctA p.L75L GDNF_ENST00000344622.4_Silent_p.L49L|GDNF_ENST00000381826.4_Silent_p.L66L|GDNF_ENST00000515058.1_Silent_p.L49L|GDNF_ENST00000427982.1_Silent_p.L92L NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 75 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) GTGACCTTTTCAGTCTTTTAA 0.438000 41 89 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746352 37746352 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr9:37746352G>A ENST00000539465.1 + 16 4916 c.4323G>A c.(4321-4323)ggG>ggA p.G1441G RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.G1441G Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1441 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CTTCCTGGGGGGTTGGAAACA 0.572000 10 19 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189061706 189061706 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:189061706C>G ENST00000332517.3 + 2 573 c.433C>G c.(433-435)Ctt>Gtt p.L145V NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 145 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) AATCCTGAATCTTTTGCGTGT 0.478000 100 34 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34823332 34823332 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:34823332G>C ENST00000265109.3 + 15 1672 c.1385G>C c.(1384-1386)cGa>cCa p.R462P RAI14_ENST00000503673.1_Missense_Mutation_p.R462P|RAI14_ENST00000512629.1_Missense_Mutation_p.R433P|RAI14_ENST00000515799.1_Missense_Mutation_p.R465P|RAI14_ENST00000428746.2_Missense_Mutation_p.R462P|RAI14_ENST00000397449.1_Missense_Mutation_p.R455P|RAI14_ENST00000506376.1_Missense_Mutation_p.R454P NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 462 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CTCCAATCCCGAAGGGCAGAA 0.443000 37 67 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170038769 170038769 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:170038769G>A ENST00000284637.9 - 9 2023 c.1682C>T c.(1681-1683)tCa>tTa p.S561L SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 561 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GTGAGCTGCTGATACCACAGC 0.587000 74 90 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238305397 238305397 + Missense_Mutation SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:238305397T>C ENST00000295550.4 - 2 516 c.64A>G c.(64-66)Aca>Gca p.T22A COL6A3_ENST00000472056.1_Missense_Mutation_p.T22A|COL6A3_ENST00000392003.2_Missense_Mutation_p.T22A|COL6A3_ENST00000392004.3_Missense_Mutation_p.T22A|COL6A3_ENST00000353578.4_Missense_Mutation_p.T22A|COL6A3_ENST00000346358.4_Missense_Mutation_p.T22A|COL6A3_ENST00000347401.3_Missense_Mutation_p.T22A|COL6A3_ENST00000409809.1_Missense_Mutation_p.T22A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 22 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) GCATGAGTTGTAGGAAAGCCT 0.418000 54 89 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060617 128060617 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:128060617G>T ENST00000254730.6 + 5 1382 c.1328G>T c.(1327-1329)cGg>cTg p.R443L EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.R388L NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 443 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity p.R443>?(1)|p.R443P(1) NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 AACACGTGCCGGCTAGCCTTC 0.602000 47 73 2.74695e-27 3.04454e-27 1 1 0 CDC14B 8555 broad.mit.edu 37 9 99381613 99381613 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr9:99381613G>C ENST00000375241.1 - 1 499 c.48C>G c.(46-48)ccC>ccG p.P16P CDC14B_ENST00000265659.2_Silent_p.P16P|CDC14B_ENST00000463569.1_Silent_p.P16P|CDC14B_ENST00000375236.1_Silent_p.P16P|CDC14B_ENST00000375240.3_Silent_p.P16P NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 16 activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) GCCGCGAGCAGGGGGGCGCGG 0.761000 12 5 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171761 207171761 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:207171761C>G ENST00000374423.3 + 5 2895 c.2509C>G c.(2509-2511)Ctt>Gtt p.L837V NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 837 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TGATATTCCTCTTCATTCAGG 0.358000 29 46 0 0 1 0 0 SNAPC1 6617 broad.mit.edu 37 14 62244847 62244847 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:62244847C>G ENST00000216294.4 + 6 855 c.751C>G c.(751-753)Caa>Gaa p.Q251E NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa 251 SNAPC4-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) AGGAAATTCACAAGAAACGGA 0.333000 18 48 0 0 1 0 0 PYROXD1 79912 broad.mit.edu 37 12 21608984 21608984 + Silent SNP G G A rs137912595 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:21608984G>A ENST00000538582.1 + 7 1245 c.492G>A c.(490-492)ttG>ttA p.L164L PYROXD1_ENST00000240651.9_Silent_p.L235L|PYROXD1_ENST00000545178.1_3'UTR Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 1 235 oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1) 18 GAAGTGCATTGGGACCAGATT 0.308000 43 64 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22902965 22902965 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:22902965G>C ENST00000166244.3 + 3 487 c.415G>C c.(415-417)Gaa>Caa p.E139Q EPHA8_ENST00000374644.4_Missense_Mutation_p.E139Q|EPHA8_ENST00000538803.1_Missense_Mutation_p.E139Q NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 139 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAGCACACAAGAAAGCCAGTT 0.612000 42 60 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92074649 92074649 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:92074649G>A ENST00000256343.3 - 22 2854 c.2698C>T c.(2698-2700)Cac>Tac p.H900Y NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 900 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTTGACATGTGAAACATGTTT 0.299000 29 54 0 0 1 0 0 FAN1 22909 broad.mit.edu 37 15 31197051 31197051 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:31197051A>G ENST00000362065.4 + 2 476 c.185A>G c.(184-186)gAa>gGa p.E62G FAN1_ENST00000561607.1_Missense_Mutation_p.E62G|FAN1_ENST00000561594.1_Missense_Mutation_p.E62G|FAN1_ENST00000565466.1_Missense_Mutation_p.E62G NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 62 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 CACCTTGATGAAATGTGTGCT 0.403000 Direct reversal of damage 17 60 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58831658 58831658 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:58831658C>G ENST00000355431.3 + 20 3224 c.2851C>G c.(2851-2853)Ctg>Gtg p.L951V ARID4A_ENST00000348476.3_Missense_Mutation_p.L951V|ARID4A_ENST00000431317.2_Missense_Mutation_p.L951V|ARID4A_ENST00000395168.3_Missense_Mutation_p.L951V NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 951 Retinoblastoma protein binding (Potential). negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGCAATGCCTCTGATCGGGCC 0.408000 57 125 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127654607 127654607 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:127654607C>T ENST00000508053.1 - 41 5532 c.4558G>A c.(4558-4560)Ggt>Agt p.G1520S FBN2_ENST00000262464.4_Missense_Mutation_p.G1520S P35556 FBN2_HUMAN fibrillin 2 1520 EGF-like 25; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AATTCATAACCATCATCGCAG 0.378000 29 83 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155154488 155154488 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:155154488C>T ENST00000368382.1 + 9 1817 c.1680C>T c.(1678-1680)ggC>ggT p.G560G TRIM46_ENST00000545012.1_Silent_p.G457G|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368383.3_Silent_p.G583G|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000334634.4_Silent_p.G583G|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000543729.1_3'UTR NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4 NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 583 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGTCCTGGGCGACGTGGCTG 0.667000 14 25 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19504100 19504100 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:19504100G>A ENST00000407835.1 + 17 1747 c.1491G>A c.(1489-1491)ctG>ctA p.L497L CDC45_ENST00000263201.1_Silent_p.L497L|CDC45_ENST00000404724.3_Silent_p.L451L|CDC45_ENST00000437685.2_Silent_p.L529L O75419 CDC45_HUMAN cell division cycle 45 497 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 CTGCCCCCCTGAGCATGGAGC 0.632000 22 35 0 0 1 0 0 KRR1 11103 broad.mit.edu 37 12 75905329 75905329 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:75905329C>T ENST00000229214.4 - 1 72 c.49G>A c.(49-51)Gaa>Aaa p.E17K KRR1_ENST00000438169.2_Missense_Mutation_p.E17K NM_007043.6 NP_008974.5 Q13601 KRR1_HUMAN KRR1, small subunit (SSU) processome component, homolog (yeast) 17 rRNA processing nucleolus|ribonucleoprotein complex RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 11 TTACGAAATTCACTTTTTCCA 0.502000 46 100 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519375 50519375 + Splice_Site SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:50519375G>A ENST00000267842.5 + 7 1689 c.1457G>A c.(1456-1458)cGg>cAg p.R486Q SLC27A2_ENST00000544960.1_Splice_Site_p.R251Q|SLC27A2_ENST00000380902.4_Splice_Site_p.R433Q NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 486 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GATACATTCCGGTTGGTTTTT 0.403000 30 58 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060846 35060846 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:35060846C>A ENST00000373913.3 + 3 1206 c.726C>A c.(724-726)ttC>ttA p.F242L DLGAP4_ENST00000373907.2_Missense_Mutation_p.F242L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.F242L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.F242L Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 242 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) CACGCTACTTCATGCACGCCT 0.637000 41 125 2.77807e-22 3.05358e-22 1 1 0 SCAMP3 10067 broad.mit.edu 37 1 155230165 155230165 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:155230165C>T ENST00000355379.3 - 3 544 c.266G>A c.(265-267)cGa>cAa p.R89Q SCAMP3_ENST00000302631.3_Missense_Mutation_p.R115Q|SCAMP3_ENST00000472397.1_5'UTR NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 115 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) 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) TCGCTCCCTTCGGTCCAACTC 0.582000 59 94 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225796298 225796298 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:225796298C>G ENST00000409592.3 - 2 306 c.193G>C c.(193-195)Gat>Cat p.D65H DOCK10_ENST00000258390.7_Missense_Mutation_p.D71H|DOCK10_ENST00000474102.1_5'UTR Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 71 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AACAAGAGATCTTGAAGAGGA 0.428000 7 18 0 0 1 0 0 DBT 1629 broad.mit.edu 37 1 100701034 100701034 + Nonsense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:100701034G>C ENST00000370132.4 - 3 222 c.209C>G c.(208-210)tCa>tGa p.S70* DBT_ENST00000370131.3_Nonsense_Mutation_p.S70* NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 Lipoyl-binding. branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TCCAATGTCTGAGAGCTTGAA 0.299000 41 87 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44943289 44943289 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:44943289G>C ENST00000296125.4 + 8 905 c.837G>C c.(835-837)ctG>ctC p.L279L NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 279 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TTTCAGTGCTGAGAGCGTTGG 0.587000 15 33 0 0 1 0 0 CANX 821 broad.mit.edu 37 5 179151700 179151700 + Nonsense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:179151700C>T ENST00000247461.4 + 13 1761 c.1561C>T c.(1561-1563)Caa>Taa p.Q521* CANX_ENST00000452673.2_Nonsense_Mutation_p.Q521*|CANX_ENST00000512607.2_Nonsense_Mutation_p.Q413*|CANX_ENST00000504734.1_Nonsense_Mutation_p.Q521*|CANX_ENST00000415618.2_Nonsense_Mutation_p.Q556* NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 521 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TGATGCACCTCAACCGGATGT 0.398000 38 74 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133047065 133047065 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:133047065C>T ENST00000262283.5 - 14 1431 c.1332G>A c.(1330-1332)caG>caA p.Q444Q OC90_ENST00000603859.1_Silent_p.Q232Q|OC90_ENST00000254627.3_Silent_p.Q232Q|OC90_ENST00000443356.2_Silent_p.Q248Q Q02509 OC90_HUMAN otoconin 90 248 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CCACTCCTTCCTGATCGTGGC 0.567000 49 99 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34824386 34824386 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:34824386G>C ENST00000265109.3 + 15 2726 c.2439G>C c.(2437-2439)gaG>gaC p.E813D RAI14_ENST00000503673.1_Missense_Mutation_p.E813D|RAI14_ENST00000512629.1_Missense_Mutation_p.E784D|RAI14_ENST00000515799.1_Missense_Mutation_p.E816D|RAI14_ENST00000428746.2_Missense_Mutation_p.E813D|RAI14_ENST00000397449.1_Missense_Mutation_p.E806D|RAI14_ENST00000506376.1_Missense_Mutation_p.E805D NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 813 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CTGTGAAAGAGAAAGAGAAGG 0.413000 60 128 0 0 1 0 0 OSM 5008 broad.mit.edu 37 22 30659991 30659991 + Missense_Mutation SNP C C T rs150499755 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:30659991C>T ENST00000215781.2 - 3 680 c.640G>A c.(640-642)Gag>Aag p.E214K OSM_ENST00000403389.1_Missense_Mutation_p.E193K NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 214 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) TTCGGGCTCTCCCCCCACTTG 0.637000 39 59 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176951275 176951275 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:176951275G>A ENST00000329540.5 - 9 3914 c.1085C>T c.(1084-1086)tCa>tTa p.S362L FAM193B_ENST00000514747.1_Missense_Mutation_p.S736L|FAM193B_ENST00000443375.2_Missense_Mutation_p.S703L Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 412 kidney(1)|large_intestine(3) 4 TGCTGGGCCTGAGGGCTGCAC 0.667000 5 5 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37687065 37687065 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:37687065G>C ENST00000447079.4 + 14 4002 c.3969G>C c.(3967-3969)ttG>ttC p.L1323F CDK12_ENST00000430627.2_Missense_Mutation_p.L1314F NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1323 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 ACCAGGCCTTGAGACCAATGG 0.562000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 101 96 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998590 46998590 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:46998590G>A ENST00000599531.1 - 1 1165 c.133C>T c.(133-135)Ccc>Tcc p.P45S PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Missense_Mutation_p.P45S|AC011484.1_ENST00000377652.3_3'UTR NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 45 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) gtgcccaggggcaggagggtc 0.657000 39 168 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56487277 56487277 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:56487277C>T ENST00000267101.3 + 12 1863 c.1423C>T c.(1423-1425)Cgg>Tgg p.R475W ERBB3_ENST00000415288.2_Missense_Mutation_p.R416W|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 475 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAAGGTGCTTCGGGGGCCTAC 0.547000 91 61 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30358451 30358451 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:30358451G>C ENST00000327564.7 + 5 2092 c.2031G>C c.(2029-2031)tgG>tgC p.W677C LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000341671.7_Missense_Mutation_p.W650C|LRRC37B_ENST00000543378.2_Missense_Mutation_p.W568C Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 650 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TTCAGGCCTGGCACGGAATGC 0.328000 16 145 0 0 1 0 0 SLC38A2 54407 broad.mit.edu 37 12 46757598 46757598 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:46757598C>A ENST00000256689.5 - 12 1409 c.965G>T c.(964-966)aGa>aTa p.R322I SLC38A2_ENST00000551374.1_Missense_Mutation_p.R160I NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 322 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) CATCATTCTTCTACGGCTGCG 0.338000 25 56 1.33986e-20 1.46067e-20 1 1 0 GPR110 266977 broad.mit.edu 37 6 46977913 46977913 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:46977913G>C ENST00000371253.2 - 11 1473 c.1258C>G c.(1258-1260)Ctt>Gtt p.L420V GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.L223V NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 420 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TTCAGAGGAAGAGCTGTCGGA 0.438000 32 103 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43628317 43628317 + Silent SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:43628317A>G ENST00000264663.5 + 7 1013 c.792A>G c.(790-792)gaA>gaG p.E264E NNT_ENST00000512996.2_Silent_p.E133E|NNT_ENST00000344920.4_Silent_p.E264E NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 264 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CAGCTTTGGAACAGTTCAAGT 0.413000 72 138 0 0 1 0 0 PYCR1 5831 broad.mit.edu 37 17 79891201 79891201 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:79891201C>T ENST00000337943.5 - 7 1291 c.849G>A c.(847-849)aaG>aaA p.K283K PYCR1_ENST00000403172.4_Silent_p.K252K|PYCR1_ENST00000577756.1_3'UTR|PYCR1_ENST00000329875.8_Silent_p.K283K|PYCR1_ENST00000402252.2_Silent_p.K310K NM_153824.1 NP_722546.1 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 283 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) GGATGGTCTTCTTGATGGCGG 0.642000 22 54 0 0 1 0 0 CDC42EP3 10602 broad.mit.edu 37 2 37873446 37873446 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:37873446G>A ENST00000295324.3 - 2 1285 c.285C>T c.(283-285)ttC>ttT p.F95F AC006369.2_ENST00000419425.1_RNA NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4 NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2 Q9UKI2 BORG2_HUMAN CDC42 effector protein (Rho GTPase binding) 3 95 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) GCGTTTCTGTGAACACAGAGT 0.532000 59 128 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48138177 48138177 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr16:48138177G>A ENST00000311303.3 - 20 3121 c.2776C>T c.(2776-2778)Cac>Tac p.H926Y ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 926 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TTCTCTGCGTGAAACGGCAGC 0.488000 83 160 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33795931 33795931 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:33795931G>A ENST00000389232.4 + 3 341 c.271G>A c.(271-273)Ggc>Agc p.G91S RYR3_ENST00000415757.3_Missense_Mutation_p.G91S NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 91 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) TGAAAATGGCGGCGAAGGGGT 0.483000 4 15 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94711948 94711948 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:94711948C>T ENST00000304338.3 + 13 1523 c.1369C>T c.(1369-1371)Ctt>Ttt p.L457F NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 457 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TATAGATCATCTTCCAGAAAT 0.308000 66 90 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28231760 28231760 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:28231760C>T ENST00000354638.3 - 12 1367 c.1212G>A c.(1210-1212)acG>acA p.T404T OCA2_ENST00000353809.5_Silent_p.T380T|OCA2_ENST00000382996.2_Silent_p.T404T NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 404 T -> M (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.T404T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CGAAAAATCCCGTTTCTGAAA 0.303000 Oculocutaneous Albinism 67 132 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30995215 30995215 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr16:30995215G>A ENST00000262519.8 + 19 5681 c.4995G>A c.(4993-4995)aaG>aaA p.K1665K NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1665 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCCAGAAGAAGATCGTGATCT 0.582000 11 14 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235973532 235973532 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:235973532G>T ENST00000389794.3 - 5 760 c.586C>A c.(586-588)Cct>Act p.P196T LYST_ENST00000536965.1_Missense_Mutation_p.P196T|LYST_ENST00000389793.2_Missense_Mutation_p.P196T Q99698 LYST_HUMAN lysosomal trafficking regulator 196 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTTGTTTAGGAAACGATGTT 0.428000 87 162 9.11151e-29 1.01408e-28 1 1 0 OTOF 9381 broad.mit.edu 37 2 26717812 26717812 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:26717812C>T ENST00000272371.2 - 9 1021 c.895G>A c.(895-897)Gag>Aag p.E299K OTOF_ENST00000403946.3_Missense_Mutation_p.E299K NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 299 C2 1. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACTGACCTCGTTGTAATAG 0.572000 30 82 0 0 1 0 0 TMEM194A 23306 broad.mit.edu 37 12 57472424 57472424 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:57472424G>A ENST00000300128.4 - 1 128 c.105C>T c.(103-105)tcC>tcT p.S35S TMEM194A_ENST00000553654.1_Intron|TMEM194A_ENST00000379391.3_Silent_p.S35S NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 35 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCAAGCAGCCGGAGAGGATCA 0.672000 57 181 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39717074 39717074 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:39717074T>C ENST00000553728.1 + 4 1509 c.1296T>C c.(1294-1296)atT>atC p.I432I MIA2_ENST00000556784.1_Silent_p.I431I|MIA2_ENST00000280082.3_Silent_p.I432I CGATAAAAATTATAGAAACAG 0.318000 54 74 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1806112 1806112 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:1806112C>T ENST00000340107.4 + 9 1393 c.1137C>T c.(1135-1137)ctC>ctT p.L379L FGFR3_ENST00000481110.2_Silent_p.L377L|FGFR3_ENST00000440486.2_Silent_p.L377L|FGFR3_ENST00000260795.2_Silent_p.L377L|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 377 bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.L377L(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CAGGCATCCTCAGCTACGGGG 0.687000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 334 70 0 0 1 0 0 CCDC120 90060 broad.mit.edu 37 X 48925201 48925201 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:48925201C>T ENST00000376396.3 + 10 1665 c.1446C>T c.(1444-1446)ctC>ctT p.L482L CCDC120_ENST00000597275.1_Silent_p.L482L|CCDC120_ENST00000422185.2_Silent_p.L482L|CCDC120_ENST00000536628.2_Silent_p.L470L|CCDC120_ENST00000496529.2_Silent_p.L482L|CCDC120_ENST00000603986.1_Silent_p.L517L NM_001271835.1|NM_001271836.1|NM_033626.2 NP_001258764.1|NP_001258765.1|NP_296375.1 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 482 Pro-rich. protein binding breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 ATGGGCTCCTCACCATGCTCC 0.711000 21 9 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92074642 92074642 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:92074642G>A ENST00000256343.3 - 22 2861 c.2705C>T c.(2704-2706)tCa>tTa p.S902L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 902 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) ATTTACCTTTGACATGTGAAA 0.308000 27 51 0 0 1 0 0 GSTP1 2950 broad.mit.edu 37 11 67353963 67353963 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:67353963G>C ENST00000398606.3 + 7 797 c.548G>C c.(547-549)cGc>cCc p.R183P GSTP1_ENST00000398603.1_Missense_Mutation_p.R147P|GSTP1_ENST00000498765.1_3'UTR NM_000852.3 NP_000843.1 P09211 GSTP1_HUMAN glutathione S-transferase pi 1 183 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1) 9 Ethacrynic acid(DB00903)|Glutathione(DB00143) TATGTGGGGCGCCTCAGTGCC 0.617000 22 38 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56480971 56480971 + Missense_Mutation SNP C C T rs143148236 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:56480971C>T ENST00000370765.6 - 24 7401 c.7294G>A c.(7294-7296)Gat>Aat p.D2432N DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1751 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGCAAAGAATCAGCAAGTTCT 0.438000 83 67 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174632 150174632 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:150174632C>T ENST00000307271.3 + 5 2336 c.1762C>T c.(1762-1764)Cgg>Tgg p.R588W NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 588 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAAAGCCCTTCGGCGCATTTT 0.463000 61 86 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62029000 62029000 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:62029000C>A ENST00000578147.1 - 14 2713 c.2637G>T c.(2635-2637)aaG>aaT p.K879N SCN4A_ENST00000435607.1_Missense_Mutation_p.K879N P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 879 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GCGGCTCCTTCTTCTCATCCT 0.652000 5 19 1 1 1 1 0 UGP2 7360 broad.mit.edu 37 2 64114602 64114602 + Nonsense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:64114602G>T ENST00000337130.5 + 8 1614 c.1138G>T c.(1138-1140)Gag>Tag p.E380* UGP2_ENST00000467648.2_Nonsense_Mutation_p.E369*|UGP2_ENST00000394417.2_Nonsense_Mutation_p.E369*|UGP2_ENST00000445915.2_Nonsense_Mutation_p.E389* NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 380 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 CAAAAGTTTTGAGAATTCTCT 0.423000 36 79 6.84511e-11 7.1685e-11 1 1 0 MEN1 4221 broad.mit.edu 37 11 64571830 64571830 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:64571830G>C ENST00000337652.1 - 10 2327 c.1824C>G c.(1822-1824)ctC>ctG p.L608L MEN1_ENST00000315422.4_Silent_p.L603L|MEN1_ENST00000312049.6_Silent_p.L603L|MEN1_ENST00000394374.2_Silent_p.L608L|MEN1_ENST00000394376.1_Silent_p.L608L|MEN1_ENST00000377313.1_Silent_p.L608L|MEN1_ENST00000377316.2_Silent_p.L548L|MEN1_ENST00000443283.1_Silent_p.L608L|MEN1_ENST00000377326.3_Silent_p.L603L|MEN1_ENST00000377321.1_Silent_p.L568L NM_130803.2 NP_570715 O00255 MEN1_HUMAN multiple endocrine neoplasia I 608 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GCTGCCGCTTGAGGAAAGACA 0.577000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 114 177 0 0 1 0 0 AGTRAP 57085 broad.mit.edu 37 1 11810185 11810185 + Nonsense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:11810185C>T ENST00000510878.1 + 4 344 c.310C>T c.(310-312)Cag>Tag p.Q104* AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000314340.5_Missense_Mutation_p.A139V|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376629.4_Missense_Mutation_p.A132V Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 0 cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) endometrium(1)|lung(3)|prostate(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) ATTGACTCAGCAGAGGCGCCC 0.607000 14 35 0 0 1 0 0 POC5 134359 broad.mit.edu 37 5 74984960 74984960 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:74984960C>T ENST00000428202.2 - 9 1195 c.1006G>A c.(1006-1008)Gag>Aag p.E336K POC5_ENST00000380475.2_Missense_Mutation_p.E219K|POC5_ENST00000514838.2_Missense_Mutation_p.E308K|POC5_ENST00000446329.2_Missense_Mutation_p.E311K|POC5_ENST00000510798.1_Missense_Mutation_p.E219K NM_001099271.1 NP_001092741.1 Q8NA72 POC5_HUMAN POC5 centriolar protein 336 cell cycle centriole breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CTTTGAATCTCAGCTTTTGCA 0.308000 5 11 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92797155 92797155 + Missense_Mutation SNP G G A rs143874024 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:92797155G>A ENST00000377067.3 + 7 1846 c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 492 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AGGCATGGTTGAACAAGTCAG 0.468000 48 91 0 0 1 0 0 ANKRD6 22881 broad.mit.edu 37 6 90327727 90327727 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:90327727C>G ENST00000369408.5 + 9 1118 c.769C>G c.(769-771)Ctt>Gtt p.L257V ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000339746.4_Missense_Mutation_p.L257V|ANKRD6_ENST00000522441.1_Missense_Mutation_p.L257V|ANKRD6_ENST00000447838.2_Missense_Mutation_p.L257V|ANKRD6_ENST00000485637.1_Missense_Mutation_p.L257V NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 257 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) GGAAGTTGCTCTTCTCCTTAC 0.542000 65 47 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744002 140744002 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:140744002G>A ENST00000518069.1 + 1 105 c.105G>A c.(103-105)atG>atA p.M35I PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTACTCGATGCCGGAGGAGC 0.667000 27 37 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2602373 2602373 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:2602373G>T ENST00000399655.1 + 7 1199 c.934G>T c.(934-936)Gac>Tac p.D312Y CACNA1C_ENST00000344100.3_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D312Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D312Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D312Y NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 312 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGCAGAAGATGACCCTTCCCC 0.592000 39 65 2.87052e-16 3.0665e-16 1 1 0 FLNC 2318 broad.mit.edu 37 7 128470904 128470904 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:128470904C>T ENST00000325888.8 + 1 474 c.213C>T c.(211-213)atC>atT p.I71I FLNC_ENST00000346177.6_Silent_p.I71I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 71 Actin-binding.|CH 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCCGGCTCATCGCGCTGCTCG 0.637000 16 35 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73012710 73012710 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:73012710C>T ENST00000261180.4 + 13 2322 c.2226C>T c.(2224-2226)atC>atT p.I742I TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 742 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TGGAGATTATCAGATACCTGT 0.398000 29 62 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107335098 107335098 + Silent SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:107335098G>T ENST00000265715.3 + 12 1598 c.1374G>T c.(1372-1374)ctG>ctT p.L458L SLC26A4_ENST00000543100.1_Silent_p.L27L|SLC26A4_ENST00000541474.1_Silent_p.L19L|SLC26A4_ENST00000544569.1_Silent_p.L45L|SLC26A4_ENST00000480841.1_3'UTR NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 458 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TTGCCAACCTGAAAGGGATGT 0.418000 Pendred syndrome 40 75 6.61955e-31 7.42954e-31 1 1 0 TFG 10342 broad.mit.edu 37 3 100463742 100463742 + Nonsense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:100463742C>T ENST00000240851.4 + 7 1127 c.787C>T c.(787-789)Cag>Tag p.Q263* TFG_ENST00000418917.2_Nonsense_Mutation_p.Q259*|TFG_ENST00000490574.1_Nonsense_Mutation_p.Q263*|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Nonsense_Mutation_p.Q259* NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 263 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 GGCTCCACCTCAGCAGCCTCA 0.463000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 49 112 0 0 1 0 0 TMEM194A 23306 broad.mit.edu 37 12 57472425 57472425 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:57472425G>A ENST00000300128.4 - 1 127 c.104C>T c.(103-105)tCc>tTc p.S35F TMEM194A_ENST00000553654.1_Intron|TMEM194A_ENST00000379391.3_Missense_Mutation_p.S35F NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 35 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CAAGCAGCCGGAGAGGATCAA 0.672000 58 185 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40379652 40379652 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:40379652G>C ENST00000293328.3 - 3 348 c.180C>G c.(178-180)ctC>ctG p.L60L NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 60 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GGCCCTCCAGGAGCTGGGTGG 0.502000 47 35 0 0 1 0 0 LEMD3 23592 broad.mit.edu 37 12 65564407 65564407 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:65564407G>T ENST00000308330.2 + 1 1057 c.1031G>T c.(1030-1032)gGa>gTa p.G344V LEMD3_ENST00000541171.1_Intron NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 344 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GAGCAGGGAGGAGGGTGTGAT 0.627000 22 71 2.32416e-17 2.50294e-17 1 1 0 KLHL1 57626 broad.mit.edu 37 13 70681661 70681661 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:70681661G>C ENST00000377844.4 - 1 930 c.171C>G c.(169-171)ctC>ctG p.L57L KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 57 Ser-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.L57L(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTGGCTTTTGAGCAGGCGAC 0.617000 49 92 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44833549 44833549 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:44833549C>T ENST00000354340.4 - 4 812 c.761G>A c.(760-762)tGt>tAt p.C254Y ZNF112_ENST00000337401.4_Missense_Mutation_p.C260Y|ZNF112_ENST00000536500.1_Missense_Mutation_p.C277Y NM_013380.3 NP_037512.3 zinc finger protein 112 ATACCCAGTACATGGATAGGG 0.423000 44 243 0 0 1 0 0 KHDC1L 100129128 broad.mit.edu 37 6 73935135 73935135 + Missense_Mutation SNP G G C rs6927398 by1000genomes TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:73935135G>C ENST00000423730.3 - 4 740 c.305C>G c.(304-306)aCa>aGa p.T102R KHDC1L_ENST00000471312.1_5'UTR|KHDC1L_ENST00000370388.3_5'UTR p.T102R(1) CGGCCATGCTGTGCTCCCACC 0.522000 3 30 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102462345 102462345 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:102462345G>C ENST00000370103.4 - 1 241 c.28C>G c.(28-30)Ctc>Gtc p.L10V OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 24 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGCAGCAGGAGGTTGAGAAGG 0.433000 34 67 0 0 1 0 0 COMT 1312 broad.mit.edu 37 22 19951738 19951738 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:19951738G>A ENST00000361682.6 + 5 913 c.531G>A c.(529-531)aaG>aaA p.K177K COMT_ENST00000407537.1_Silent_p.K127K|COMT_ENST00000449653.1_Silent_p.K127K|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000406520.3_Silent_p.K177K|COMT_ENST00000403710.1_Silent_p.K177K|COMT_ENST00000403184.1_Silent_p.K177K NM_000754.3 NP_000745.1 P21964 COMT_HUMAN catechol-O-methyltransferase 177 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) CCCAGCTGAAGAAGAAGTATG 0.592000 61 111 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40521413 40521413 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:40521413G>A ENST00000347077.4 + 7 2452 c.2236G>A c.(2236-2238)Gag>Aag p.E746K ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E720K NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 746 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCATACTGGTGAGAAACCTTA 0.398000 150 79 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44966676 44966676 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:44966676G>A ENST00000377967.4 + 27 3941 c.3900G>A c.(3898-3900)ctG>ctA p.L1300L KDM6A_ENST00000543216.1_Silent_p.L1221L|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Silent_p.L1255L|KDM6A_ENST00000382899.4_Silent_p.L1307L NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1300 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TAAGAACTCTGAAGCAATGTC 0.373000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 66 18 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44669042 44669042 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:44669042A>G ENST00000243964.3 + 7 741 c.643A>G c.(643-645)Aag>Gag p.K215E SLC12A5_ENST00000372315.1_Missense_Mutation_p.K215E|SLC12A5_ENST00000454036.2_Missense_Mutation_p.K238E NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 238 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGCCATCTTCAAGGCAGAAGA 0.557000 91 282 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136137 55136137 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:55136137G>A ENST00000314706.3 + 1 778 c.778G>A c.(778-780)Ggg>Agg p.G260R NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GAGTTTGGAAGGGAAACGAAA 0.428000 89 106 0 0 1 0 0 GPD1 2819 broad.mit.edu 37 12 50500080 50500080 + Missense_Mutation SNP G G A rs34783513 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:50500080G>A ENST00000301149.3 + 4 602 c.370G>A c.(370-372)Gag>Aag p.E124K GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.E101K NM_001257199.1|NM_005276.3 NP_001244128.1|NP_005267.2 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 124 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) GGGGGTAGACGAGGGCCCCAA 0.622000 3 31 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196965186 196965186 + Silent SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:196965186C>A ENST00000367414.5 + 6 953 c.897C>A c.(895-897)ctC>ctA p.L299L CFHR5_ENST00000256785.4_Silent_p.L275L NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 275 Sushi 5. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TACCTGAACTCGAGTACGGTT 0.348000 59 108 7.82978e-24 8.642e-24 1 1 0 C4orf21 55345 broad.mit.edu 37 4 113545020 113545020 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:113545020C>G ENST00000505019.1 - 4 240 c.115G>C c.(115-117)Gat>Cat p.D39H C4orf21_ENST00000445203.2_Missense_Mutation_p.D8H|C4orf21_ENST00000309071.5_Missense_Mutation_p.D39H NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 39 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CCTTTGTCATCATATAAAATT 0.254000 39 9 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22052270 22052270 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:22052270C>T ENST00000306385.5 + 12 2147 c.1477C>T c.(1477-1479)Ctg>Ttg p.L493L BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.L493L|BMP1_ENST00000306349.8_Silent_p.L493L|BMP1_ENST00000397816.3_Silent_p.L493L NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 493 CUB 2. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CTACGACTATCTGGAGGTGCG 0.617000 31 52 0 0 1 0 0 LRRC41 10489 broad.mit.edu 37 1 46751604 46751604 + Nonsense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:46751604C>A ENST00000343304.6 - 4 1210 c.925G>T c.(925-927)Gaa>Taa p.E309* LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 309 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGCTTGGCTTCACTCTTACGC 0.627000 5 29 0.000602214 0.000611409 1 1 0 LSS 4047 broad.mit.edu 37 21 47648499 47648499 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr21:47648499C>A ENST00000397728.3 - 2 107 c.29G>T c.(28-30)cGa>cTa p.R10L LSS_ENST00000457828.2_5'UTR|LSS_ENST00000356396.4_Missense_Mutation_p.R10L|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000522411.1_Missense_Mutation_p.R10L NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 10 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) GGGGCCCCCTCGGCGCCGCAG 0.746000 5 8 1.23904e-05 1.26278e-05 1 1 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 38 10 0 0 1 0 0 SLC22A8 9376 broad.mit.edu 37 11 62763286 62763286 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:62763286G>C ENST00000336232.2 - 7 1026 c.891C>G c.(889-891)ctC>ctG p.L297L SLC22A8_ENST00000535878.1_Silent_p.L174L|SLC22A8_ENST00000311438.8_Silent_p.L297L|SLC22A8_ENST00000545207.1_Silent_p.L206L|SLC22A8_ENST00000430500.2_Silent_p.L297L NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 297 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 GGTTGAGTTTGAGCTCCTTCG 0.582000 60 98 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644201 53644201 + Missense_Mutation SNP T T A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:53644201T>A ENST00000452676.2 - 5 2309 c.1883A>T c.(1882-1884)tAt>tTt p.Y628F ZNF347_ENST00000334197.7_Missense_Mutation_p.Y627F|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.Y628F NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) ATACTCATTATACTTGTAAGG 0.378000 198 114 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45216772 45216772 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:45216772G>C ENST00000279027.4 - 8 1065 c.1047C>G c.(1045-1047)ttC>ttG p.F349L SLC13A3_ENST00000495082.1_Missense_Mutation_p.F302L|SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.F299L|SLC13A3_ENST00000472148.1_Intron|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F302L|SLC13A3_ENST00000372121.1_Missense_Mutation_p.F299L NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 349 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity p.F349F(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CAAACATGCAGAAAAGGATGA 0.592000 14 58 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9545099 9545099 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:9545099C>T ENST00000352665.5 + 13 1703 c.1634C>T c.(1633-1635)tCt>tTt p.S545F WDR16_ENST00000299764.5_Missense_Mutation_p.S555F|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.S477F NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 545 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 GGTTCCCTGTCTGGGTCGATA 0.463000 38 25 0 0 1 0 0 ZNF394 84124 broad.mit.edu 37 7 99096378 99096378 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:99096378C>T ENST00000337673.6 - 2 747 c.544G>A c.(544-546)Gag>Aag p.E182K ZNF394_ENST00000426306.2_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 182 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGCGCACTCTCTCTGCAGAAG 0.577000 20 44 0 0 1 0 0 ZFAND2B 130617 broad.mit.edu 37 2 220073250 220073250 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:220073250G>C ENST00000409097.1 + 7 687 c.630G>C c.(628-630)caG>caC p.Q210H ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000409336.1_Intron|ZFAND2B_ENST00000409217.1_Intron|ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.Q210H|ZFAND2B_ENST00000289528.5_Intron Q8WV99 ZFN2B_HUMAN zinc finger, AN1-type domain 2B 0 endoplasmic reticulum protein binding|zinc ion binding endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1) 11 Renal(207;0.0915) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAAACACACAGAGAGTGAAGT 0.547000 44 78 0 0 1 0 0 ZNF830 91603 broad.mit.edu 37 17 33289624 33289624 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:33289624G>C ENST00000361952.3 + 1 1076 c.1039G>C c.(1039-1041)Gag>Cag p.E347Q NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 347 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) AAAGGAAGAAGAGAATGCTGA 0.423000 104 68 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734275 28734275 + RNA SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:28734275C>G ENST00000550043.1 + 0 680 GCTGCTCTCTCATTTGCTGGC 0.488000 29 35 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37173929 37173929 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:37173929G>A ENST00000274258.7 - 32 6326 c.2739C>T c.(2737-2739)ttC>ttT p.F913F C5orf42_ENST00000425232.2_Silent_p.F2033F|C5orf42_ENST00000508244.1_Silent_p.F2033F E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2033 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ACTGAGCCGTGAATTCATTTC 0.403000 64 91 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170038745 170038745 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:170038745G>C ENST00000284637.9 - 9 2047 c.1706C>G c.(1705-1707)cCt>cGt p.P569R SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 569 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CTTAGCCTGAGGACTTGTCTG 0.582000 79 89 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48808503 48808503 + Nonsense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:48808503C>A ENST00000309835.3 + 1 741 c.731C>A c.(730-732)tCa>tAa p.S244* STON1_ENST00000404752.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.S244*|STON1_ENST00000406226.1_Nonsense_Mutation_p.S244* stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AACCAAGACTCACTTAGAAGT 0.433000 51 80 3.07002e-29 3.43119e-29 1 1 0 CCDC144CP 348254 broad.mit.edu 37 17 20224675 20224675 + RNA SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:20224675C>T ENST00000580225.1 + 0 105 CCDC144CP_ENST00000340196.4_RNA TGAGGGGTCTCCGAAGCCGGC 0.647000 16 6 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34949727 34949727 + Silent SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:34949727A>G ENST00000439527.2 + 13 1509 c.1011A>G c.(1009-1011)gcA>gcG p.A337A UBA2_ENST00000246548.4_Silent_p.A433A|UBA2_ENST00000592791.1_5'UTR Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 433 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TGCCTTGTGCACTGGATCCTC 0.433000 164 106 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16982110 16982110 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:16982110C>T ENST00000379803.1 + 15 2603 c.2589C>T c.(2587-2589)atC>atT p.I863I SIN3B_ENST00000595541.1_Silent_p.I421I|SIN3B_ENST00000248054.5_Silent_p.I831I NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 863 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 AGGGCAGCATCGACCCCACGC 0.612000 48 65 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16045054 16045054 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:16045054C>T ENST00000402119.4 - 1 591 c.165G>A c.(163-165)ccG>ccA p.P55P CYP4F11_ENST00000326742.8_Silent_p.P55P|CYP4F11_ENST00000248041.8_Silent_p.P55P NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 AGTTCTGTTTCGGGGGTTGAG 0.612000 34 70 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22902808 22902808 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:22902808G>A ENST00000166244.3 + 3 330 c.258G>A c.(256-258)acG>acA p.T86T EPHA8_ENST00000374644.4_Silent_p.T86T|EPHA8_ENST00000538803.1_Silent_p.T86T NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 86 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGCTGCGCACGAGCTGGGTCC 0.617000 50 83 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11596632 11596632 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:11596632C>T ENST00000304391.6 + 5 845 c.727C>T c.(727-729)Cct>Tct p.P243S PTCHD2_ENST00000389575.3_Silent_p.F1356F|PTCHD2_ENST00000294484.6_Silent_p.F1356F Q9P2K9 PTHD2_HUMAN patched domain containing 2 0 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GGACTTCCTTCCTCAAGGCCC 0.672000 15 14 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62029011 62029011 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:62029011C>T ENST00000578147.1 - 14 2702 c.2626G>A c.(2626-2628)Gag>Aag p.E876K SCN4A_ENST00000435607.1_Missense_Mutation_p.E876K P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 876 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TTCTCATCCTCGGGGGCAGTC 0.657000 4 13 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189876410 189876410 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:189876410G>C ENST00000304636.3 + 51 4481 c.4311G>C c.(4309-4311)gtG>gtC p.V1437V COL3A1_ENST00000317840.5_Silent_p.V1134V NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1437 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GCAAGGCTGTGAGACTACCTA 0.393000 36 83 0 0 1 0 0 KIAA1279 26128 broad.mit.edu 37 10 70765492 70765492 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:70765492G>C ENST00000361983.4 + 4 712 c.610G>C c.(610-612)Gaa>Caa p.E204Q NM_015634.3 NP_056449.1 Q96EK5 KBP_HUMAN KIAA1279 204 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 14 TTACAGATTTGAAAAGGTTTA 0.368000 17 29 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24784190 24784190 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:24784190G>C ENST00000342947.3 - 3 820 c.395C>G c.(394-396)tCt>tGt p.S132C DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.S132C NM_004403.2 NP_004394.1 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 132 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 CCTCTCGGCAGAGTCTCTGAT 0.493000 59 73 0 0 1 0 0 CA5A 763 broad.mit.edu 37 16 87921738 87921738 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr16:87921738G>A ENST00000309893.2 - 7 980 c.915C>T c.(913-915)tcC>tcT p.S305S NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 305 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) AATGTCTCTAGGACCTTGTGC 0.458000 41 66 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116403955 116403955 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:116403955C>G ENST00000281928.3 - 29 6525 c.6319G>C c.(6319-6321)Gag>Cag p.E2107Q NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 2107 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GGAAGATTCTCAGCTTTGGCA 0.488000 75 135 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53045870 53045870 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:53045870G>A ENST00000309680.3 - 1 78 c.57C>T c.(55-57)ttC>ttT p.F19F NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 19 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TGAAGCCCCGGAAtcctcctc 0.577000 5 9 0 0 1 0 0 NR2C2AP 126382 broad.mit.edu 37 19 19313302 19313302 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:19313302G>C ENST00000331552.7 - 3 575 c.212C>G c.(211-213)tCc>tGc p.S71C NR2C2AP_ENST00000538165.2_Missense_Mutation_p.S71C|NR2C2AP_ENST00000544883.1_Intron|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.S71C NM_176880.4 NP_795361.1 Q86WQ0 NR2CA_HUMAN nuclear receptor 2C2-associated protein cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm breast(1)|cervix(1)|kidney(2)|ovary(1) 5 Epithelial(12;0.00235) CCGGCGACTGGAGAAGCCACC 0.617000 22 68 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31760563 31760563 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:31760563G>A ENST00000375663.3 - 4 1072 c.632C>T c.(631-633)tCa>tTa p.S211L VARS_ENST00000444930.2_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 211 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CCTGGCTCCTGAGTATAGAAC 0.562000 68 25 0 0 1 0 0 ZNF134 7693 broad.mit.edu 37 19 58131830 58131830 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:58131830A>G ENST00000396161.5 + 3 653 c.343A>G c.(343-345)Att>Gtt p.I115V NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 115 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TGAGGCCTCAATTGTGAAGAA 0.463000 94 63 0 0 1 0 0 TSPAN10 83882 broad.mit.edu 37 17 79609410 79609410 + RNA SNP G G T rs7406219 by1000genomes TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:79609410G>T ENST00000328585.4 + 0 62 NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CGGCGCCTGTGCTGGGGGCTT 0.657000 6 129 0.248553 0.24949 1 1 0 SH3RF1 57630 broad.mit.edu 37 4 170038903 170038903 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:170038903G>A ENST00000284637.9 - 9 1889 c.1548C>T c.(1546-1548)gtC>gtT p.V516V SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 516 Interaction with AKT2 (By similarity). Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TAGACATAGGGACTTTAGCTT 0.527000 26 38 0 0 1 0 0 PPP3CB 5532 broad.mit.edu 37 10 75239146 75239146 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:75239146C>T ENST00000360663.5 - 2 326 c.215G>A c.(214-216)aGa>aAa p.R72K PPP3CB_ENST00000342558.3_Missense_Mutation_p.R72K|PPP3CB_ENST00000545874.1_5'UTR|PPP3CB_ENST00000394822.2_Missense_Mutation_p.R72K|PPP3CB_ENST00000394828.2_Missense_Mutation_p.R72K|PPP3CB_ENST00000394829.2_Missense_Mutation_p.R72K P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta isozyme 72 Catalytic. breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) ATTGATAATTCTAAGCGCAAT 0.403000 115 226 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38209839 38209839 + Missense_Mutation SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:38209839T>C ENST00000394126.1 - 1 506 c.88A>G c.(88-90)Aac>Gac p.N30D MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394128.2_Missense_Mutation_p.N5D|MED24_ENST00000356271.3_Missense_Mutation_p.N5D|MED24_ENST00000501516.3_Missense_Mutation_p.N5D|MED24_ENST00000394127.2_Missense_Mutation_p.N5D O75448 MED24_HUMAN mediator complex subunit 24 5 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) TGCTTCAGGTTGACCACCTTC 0.488000 68 184 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39584344 39584344 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr18:39584344G>A ENST00000262039.4 + 10 1095 c.1009G>A c.(1009-1011)Gtt>Att p.V337I PIK3C3_ENST00000398870.3_Missense_Mutation_p.V274I NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 337 FLKCVN -> ILTSVI (in Ref. 1; CAA87094). cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 CTTGAAATGTGTTAATTGGGA 0.413000 TSP Lung(28;0.18) 44 15 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69672519 69672519 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:69672519G>C ENST00000374355.3 + 1 365 c.48G>C c.(46-48)ttG>ttC p.L16F DLG3_ENST00000374360.3_Intron|DLG3_ENST00000194900.4_Intron NM_020730.2 NP_065781.1 Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 0 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) CCATGGGCTTGGGCTCCGCCT 0.706000 3 15 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70351453 70351453 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:70351453C>T ENST00000333646.6 + 29 4300 c.4101C>T c.(4099-4101)atC>atT p.I1367I MED12_ENST00000374080.3_Silent_p.I1367I|MED12_ENST00000374102.1_Silent_p.I1367I NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1367 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) AGCTCATGATCAAGCAGACCC 0.562000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 27 11 0 0 1 0 0 FAM76A 199870 broad.mit.edu 37 1 28086093 28086093 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:28086093G>A ENST00000373954.6 + 8 894 c.792G>A c.(790-792)atG>atA p.M264I FAM76A_ENST00000419687.2_Missense_Mutation_p.M184I|FAM76A_ENST00000530324.1_Missense_Mutation_p.M264I|FAM76A_ENST00000373949.1_Missense_Mutation_p.M235I|FAM76A_ENST00000010299.6_Missense_Mutation_p.M298I|FAM76A_ENST00000234549.7_Missense_Mutation_p.M269I NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 264 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) GAGCCAAAATGAACCAGATGG 0.413000 22 45 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104753361 104753361 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:104753361C>G ENST00000334877.4 + 26 5566 c.5032C>G c.(5032-5034)Ccg>Gcg p.P1678A KMT2E_ENST00000311117.3_Missense_Mutation_p.P1720A|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1720A lysine (K)-specific methyltransferase 2E ACCACCCCCTCCGCCGCCACC 0.552000 41 46 0 0 1 0 0 KIF12 113220 broad.mit.edu 37 9 116854869 116854869 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr9:116854869G>A ENST00000374118.3 - 14 1473 c.1236C>T c.(1234-1236)ccC>ccT p.P412P NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 545 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 GGGGTGCCCAGGGTGGGGGCC 0.652000 11 5 0 0 1 0 0 LRRC41 10489 broad.mit.edu 37 1 46745288 46745288 + Splice_Site SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:46745288T>C ENST00000343304.6 - 8 2306 c.e8-2 LRRC41_ENST00000472710.1_Splice_Site NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) AGGTAATCTCTGTCAAGAAAA 0.502000 59 115 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151791435 151791435 + Silent SNP C C T rs138436495 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:151791435C>T ENST00000434507.1 + 4 560 c.123C>T c.(121-123)ccC>ccT p.P41P GALNT11_ENST00000430044.2_Silent_p.P41P|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Silent_p.P41P|GALNT11_ENST00000415421.1_Silent_p.P41P|GALNT11_ENST00000422997.2_Silent_p.P41P|GALNT11_ENST00000482812.1_3'UTR Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 41 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGAATGTGCCCGTCAAGGGGT 0.473000 12 284 0 0 1 0 0 PEX26 55670 broad.mit.edu 37 22 18567938 18567938 + Missense_Mutation SNP C C T rs149153003 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:18567938C>T ENST00000329627.7 + 5 934 c.728C>T c.(727-729)gCg>gTg p.A243V PEX26_ENST00000428061.2_Intron|PEX26_ENST00000399744.3_Missense_Mutation_p.A243V NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding p.A243V(1) breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 TGGGACTCTGCGGTGAGCCAC 0.542000 5 85 0 0 1 0 0 GPRC5A 9052 broad.mit.edu 37 12 13062090 13062090 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:13062090G>C ENST00000014914.5 + 2 1797 c.907G>C c.(907-909)Gag>Cag p.E303Q GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 303 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CTACTCTCAAGAGGAAATCAC 0.453000 21 37 0 0 1 0 0 CAB39L 81617 broad.mit.edu 37 13 49933858 49933858 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:49933858G>A ENST00000355854.4 - 4 884 c.387C>T c.(385-387)ctC>ctT p.L129L CAB39L_ENST00000347776.5_Silent_p.L129L|CAB39L_ENST00000409308.1_Silent_p.L129L|CAB39L_ENST00000410043.1_Silent_p.L129L NM_030925.2 NP_112187.2 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 129 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) ACCCTTTGAGGAGCATAAACA 0.393000 30 79 0 0 1 0 0 CEP57L1 285753 broad.mit.edu 37 6 109471320 109471320 + Splice_Site SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:109471320G>C ENST00000407272.1 + 6 917 c.e6-1 CEP57L1_ENST00000359793.3_Splice_Site|CEP57L1_ENST00000523787.1_Splice_Site|CEP57L1_ENST00000368968.2_Splice_Site|CEP57L1_ENST00000521277.1_Intron|CEP57L1_ENST00000521522.1_Splice_Site|CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000519095.1_Splice_Site|CEP57L1_ENST00000517392.1_Splice_Site|CEP57L1_ENST00000368970.2_Splice_Site|CEP57L1_ENST00000336977.4_Intron NM_001083535.1 NP_001077004.1 Q8IYX8 CE57L_HUMAN centrosomal protein 57kDa-like 1 microtubule|microtubule organizing center endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1) 11 ttatttcATAGATATAAGTAT 0.378000 55 25 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3432259 3432259 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:3432259G>A ENST00000301365.4 - 10 1404 c.1273C>T c.(1273-1275)Ctg>Ttg p.L425L TRPV3_ENST00000572519.1_Silent_p.L425L|TRPV3_ENST00000576742.1_Silent_p.L425L Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 425 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) AGCGTGTGCAGCGGCTCCAGG 0.517000 111 164 0 0 1 0 0 OR9G1 390174 broad.mit.edu 37 11 56468004 56468004 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:56468004G>T ENST00000312153.1 + 1 141 c.141G>T c.(139-141)ttG>ttT p.L47F NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 p.L47F(1) breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 TCATCGTGTTGATCTGTAATG 0.502000 18 99 3.73148e-12 3.95447e-12 1 1 0 ATP1A1 476 broad.mit.edu 37 1 116932977 116932977 + Frame_Shift_Del DEL C C - TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:116932977delC ENST00000537345.1 + 9 1529 c.1166delC c.(1165-1167)gccfs p.A389fs ATP1A1_ENST00000295598.5_Frame_Shift_Del_p.A389fs|ATP1A1_ENST00000369496.4_Frame_Shift_Del_p.A358fs NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 389 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) ATGACAGTGGCCCACATGTGG 0.502 23 46 --- --- --- --- LINC00971 440970 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 2 4 --- --- --- --- ATR 545 broad.mit.edu 37 3 142274739 142274740 + Frame_Shift_Ins INS - - T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:142274739_142274740insT ENST00000350721.4 - 10 2441_2442 c.2320_2321insA c.(2320-2322)atafs p.I774fs ATR_ENST00000383101.3_Frame_Shift_Ins_p.I710fs NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 774 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.I774fs*5(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TGGACTAGGTATTTTTTTTTTC 0.332 Other conserved DNA damage response genes 8 186 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:1388441_1388442insCG ENST00000324803.4 + 1 3102_3103 c.142_143insCG c.(142-144)atgfs p.M48fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 7 689 --- --- --- --- CLDN23 137075 broad.mit.edu 37 8 8560467 8560467 + Frame_Shift_Del DEL G G - TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:8560467delG ENST00000519106.1 + 1 1020 c.559delG c.(559-561)gagfs p.E187fs NM_194284.2 NP_919260.2 Q96B33 CLD23_HUMAN claudin 23 187 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2) 2 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238) CTGGTGCGACGAGCGTTGTCG 0.731 9 6 --- --- --- --- PDCD11 22984 broad.mit.edu 37 10 105169473 105169474 + Frame_Shift_Ins INS - - A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:105169473_105169474insA ENST00000369797.3 + 8 982_983 c.888_889insA c.(889-891)acgfs p.T297fs NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 297 S1 motif 3. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CATTTGGCCTTACGCTAAACTT 0.391 51 95 --- --- --- --- WIF1 11197 broad.mit.edu 37 12 65445160 65445169 + Frame_Shift_Del DEL CGCCGCTCCT CGCCGCTCCT - rs145628728 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:65445160_65445169delCGCCGCTCCT ENST00000286574.4 - 10 1474_1483 c.1100_1109delAGGAGCGGCG c.(1099-1110)gaggagcggcggfs p.EERR367fs NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 367 multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) AGGTGGATCCCGCCGCTCCTCGGCCTTTTT 0.495 T HMGA2 pleomorphic salivary gland adenoma 24 132 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 3 --- --- --- ---