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 PLEC 5339 broad.mit.edu 37 8 144998170 144998170 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr8:144998170G>A ENST00000322810.4 - 31 6507 c.6338C>T c.(6337-6339)gCg>gTg p.A2113V PLEC_ENST00000527096.1_Missense_Mutation_p.A1999V|PLEC_ENST00000354958.2_Missense_Mutation_p.A1954V|PLEC_ENST00000354589.3_Missense_Mutation_p.A1976V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2003V|PLEC_ENST00000356346.3_Missense_Mutation_p.A1962V|PLEC_ENST00000398774.2_Missense_Mutation_p.A1944V|PLEC_ENST00000357649.2_Missense_Mutation_p.A1980V|PLEC_ENST00000345136.3_Missense_Mutation_p.A1976V NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2113 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTCCTCCGCCGCCAGCTGCCG 0.741000 8 7 0 0 0.013537 0 0 POLQ 10721 broad.mit.edu 37 3 121208235 121208235 + Silent SNP A A G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:121208235A>G ENST00000264233.5 - 16 3671 c.3543T>C c.(3541-3543)aaT>aaC p.N1181N NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1181 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TCATATAAACATTCTGGTTTT 0.378000 DNA polymerases (catalytic subunits) 7 204 0 0 0.038147 0 0 SLF2 55719 broad.mit.edu 37 10 102689617 102689617 + Missense_Mutation SNP T T G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr10:102689617T>G ENST00000238961.3 + 8 2344 c.2196T>G c.(2194-2196)atT>atG p.I732M FAM178A_ENST00000370269.3_Missense_Mutation_p.I732M NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 732 CAGTTACAATTGATGCTATTC 0.294000 12 56 0 0 0.016723 0 0 CHST11 50515 broad.mit.edu 37 12 105151235 105151235 + Missense_Mutation SNP A A G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:105151235A>G ENST00000303694.5 + 3 1152 c.713A>G c.(712-714)gAg>gGg p.E238G CHST11_ENST00000549260.1_Missense_Mutation_p.E233G NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 238 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GTCAAATTCGAGGAGTTTGTG 0.567000 20 57 0 0 0.014323 0 0 GNG8 94235 broad.mit.edu 37 19 47137457 47137457 + Nonsense_Mutation SNP G G T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr19:47137457G>T ENST00000300873.4 - 2 91 c.89C>A c.(88-90)tCg>tAg p.S30* NM_033258.1 NP_150283.1 Q9UK08 GBG8_HUMAN guanine nucleotide binding protein (G protein), gamma 8 30 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325) TGCTGCCTGCGACACCTGCGA 0.677000 6 11 0.00198382 0.00207265 0.029380 1 0 CYFIP1 23191 broad.mit.edu 37 15 22956374 22956374 + Silent SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr15:22956374G>A ENST00000435939.2 + 1 620 c.318G>A c.(316-318)gaG>gaA p.E106E CYFIP1_ENST00000313077.7_Intron|CYFIP1_ENST00000560848.1_Intron NM_001033028.1 NP_001028200.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 0 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GGCTTTTTGAGTTTGGCATAA 0.547000 8 29 0 0 0.004482 0 0 KALRN 8997 broad.mit.edu 37 3 124103747 124103747 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:124103747C>T ENST00000360013.3 + 11 1947 c.1820C>T c.(1819-1821)aCg>aTg p.T607M KALRN_ENST00000460856.1_Missense_Mutation_p.T607M|KALRN_ENST00000240874.3_Missense_Mutation_p.T607M NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 607 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTGGCTCAGACGGGGGAATGT 0.577000 7 53 0 0 0.038147 0 0 VPS18 57617 broad.mit.edu 37 15 41191580 41191580 + Silent SNP C C G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr15:41191580C>G ENST00000220509.5 + 4 903 c.564C>G c.(562-564)ctC>ctG p.L188L VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 188 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CTCCGGATCTCTACTTCCGCC 0.602000 14 72 0 0 0.024245 0 0 TANC2 26115 broad.mit.edu 37 17 61391920 61391920 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr17:61391920G>A ENST00000424789.2 + 8 1113 c.1109G>A c.(1108-1110)gGa>gAa p.G370E AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.G370E NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 370 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GTGATTGTGGGAAACATTGGA 0.498000 21 90 0 0 0.012319 0 0 PRODH 5625 broad.mit.edu 37 22 18906002 18906002 + Missense_Mutation SNP A A C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr22:18906002A>C ENST00000357068.6 - 11 1519 c.1254T>G c.(1252-1254)gaT>gaG p.D418E PRODH_ENST00000420436.1_Missense_Mutation_p.D310E|PRODH_ENST00000334029.2_Missense_Mutation_p.D310E NM_016335.4 NP_057419.4 O43272 PROD_HUMAN proline dehydrogenase (oxidase) 1 418 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) TGTCATAGGCATCCTGTGGGG 0.662000 3 21 0 0 0.014758 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 4 46 0 0 0.009096 0 0 TRIM46 80128 broad.mit.edu 37 1 155152367 155152367 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:155152367C>T ENST00000368382.1 + 8 1613 c.1476C>T c.(1474-1476)ggC>ggT p.G492G TRIM46_ENST00000368385.4_Silent_p.G515G|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.G389G|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000368383.3_Silent_p.G515G|TRIM46_ENST00000334634.4_Silent_p.G515G|TRIM46_ENST00000392451.2_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 46 515 Fibronectin type-III. 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) CCGGCTACGGCGAATACAGTG 0.657000 8 25 0 0 0.004482 0 0 DYDC2 84332 broad.mit.edu 37 10 82126495 82126495 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr10:82126495G>A ENST00000372199.1 + 6 920 c.322G>A c.(322-324)Gac>Aac p.D108N DYDC2_ENST00000372198.1_Missense_Mutation_p.D122N|DYDC2_ENST00000372197.1_Missense_Mutation_p.D108N|DYDC2_ENST00000256039.2_Missense_Mutation_p.D108N|DYDC2_ENST00000444807.2_Missense_Mutation_p.D108N Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 108 protein binding breast(1)|large_intestine(3)|lung(6)|skin(1) 11 Colorectal(32;0.229) CATGCAGGAGGACACAAACCC 0.438000 4 147 0 0 0.021553 0 0 KIAA1549 57670 broad.mit.edu 37 7 138601971 138601971 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr7:138601971C>T ENST00000440172.1 - 2 2449 c.2401G>A c.(2401-2403)Gag>Aag p.E801K KIAA1549_ENST00000422774.1_Missense_Mutation_p.E801K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E751K NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 801 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AAAGAAGACTCAGTTAAAATG 0.512000 O BRAF pilocytic astrocytoma 5 21 0 0 0.014758 0 0 NRBP2 340371 broad.mit.edu 37 8 144919254 144919254 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr8:144919254G>A ENST00000442628.2 - 14 1359 c.1220C>T c.(1219-1221)gCc>gTc p.A407V NRBP2_ENST00000327830.5_Missense_Mutation_p.A164V NM_178564.3 NP_848659.2 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 407 negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2)|kidney(1)|large_intestine(2) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGGGGTCTTGGCCTTTTGGAC 0.607000 42 103 0 0 0.025465 0 0 MPPE1 65258 broad.mit.edu 37 18 11893497 11893497 + Silent SNP G G T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr18:11893497G>T ENST00000588072.1 - 4 1581 c.360C>A c.(358-360)atC>atA p.I120I MPPE1_ENST00000344987.7_Silent_p.I120I|MPPE1_ENST00000399978.2_Silent_p.I120I|MPPE1_ENST00000309976.9_Silent_p.I120I|MPPE1_ENST00000317235.7_Silent_p.I120I NM_023075.5 NP_075563.3 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 120 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 CTTCATCAAAGATATCCCCCA 0.537000 17 32 1.56452e-12 1.7112e-12 0.043863 1 0 GFRAL 389400 broad.mit.edu 37 6 55223938 55223938 + Splice_Site SNP T T C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr6:55223938T>C ENST00000340465.2 + 6 1038 c.e6+2 NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CATGTTTCAGTAAGTTCCCCA 0.343000 8 41 0 0 0.038147 0 0 TPSD1 23430 broad.mit.edu 37 16 1306807 1306807 + Missense_Mutation SNP G G C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr16:1306807G>C ENST00000211076.3 + 3 412 c.264G>C c.(262-264)aaG>aaC p.K88N TPSD1_ENST00000397534.2_Missense_Mutation_p.K81N NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 88 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) GGGACATCAAGGATCTGGCCG 0.667000 3 25 0 0 0.004672 0 0 LRSAM1 90678 broad.mit.edu 37 9 130259572 130259572 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr9:130259572G>A ENST00000323301.4 + 23 2475 c.1871G>A c.(1870-1872)cGg>cAg p.R624Q LRSAM1_ENST00000300417.6_Missense_Mutation_p.R624Q|LRSAM1_ENST00000373322.1_Missense_Mutation_p.R624Q|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R597Q|LRSAM1_ENST00000483302.1_3'UTR NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 624 SAM. negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 GAGATCCTCCGGAGAGTCCAG 0.617000 7 26 0 0 0.004482 0 0 DST 667 broad.mit.edu 37 6 56472764 56472764 + Missense_Mutation SNP A A T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr6:56472764A>T ENST00000370754.5 - 39 6562 c.6563T>A c.(6562-6564)cTg>cAg p.L2188Q DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.L2010Q|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L2010Q|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.L1684Q|DST_ENST00000370769.4_Missense_Mutation_p.L2010Q Q03001 DYST_HUMAN dystonin 2010 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) TCCATCGTACAGCAAAAGCCT 0.393000 19 51 0 0 0.043863 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 70 0 0 0.006214 0 0 ARL14EP 120534 broad.mit.edu 37 11 30358279 30358279 + Missense_Mutation SNP G G T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr11:30358279G>T ENST00000282032.3 + 4 935 c.720G>T c.(718-720)aaG>aaT p.K240N NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein GTGACCGCAAGTGGCTGTATG 0.443000 16 100 1.02788e-11 1.10695e-11 0.033300 1 0 CDC42EP1 11135 broad.mit.edu 37 22 37962716 37962716 + Missense_Mutation SNP C C G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr22:37962716C>G ENST00000249014.4 + 2 780 c.360C>G c.(358-360)atC>atG p.I120M NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 120 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) AGAACGCCATCTCCCTGCCCC 0.692000 16 82 0 0 0.028581 0 0 RASGRP3 25780 broad.mit.edu 37 2 33764264 33764264 + Missense_Mutation SNP G G T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr2:33764264G>T ENST00000403687.3 + 12 2005 c.1265G>T c.(1264-1266)aGg>aTg p.R422M RASGRP3_ENST00000402538.3_Missense_Mutation_p.R422M|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R421M NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 422 EF-hand 1. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) AAGCACATAAGGAAATTAGTG 0.517000 3 10 0.00909568 0.0093632 0.009096 1 0 JAK1 3716 broad.mit.edu 37 1 65332750 65332750 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:65332750C>T ENST00000342505.4 - 7 1037 c.789G>A c.(787-789)acG>acA p.T263T NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 263 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAGGTCATGCGTGGACACGC 0.398000 Mis ALL 4 144 0 0 0.014758 0 0 ARC 23237 broad.mit.edu 37 8 143695621 143695621 + Silent SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr8:143695621G>A ENST00000356613.2 - 1 1212 c.12C>T c.(10-12)gaC>gaT p.D4D NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 4 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) TGGTCCGGTGGTCCAGCTCCA 0.746000 4 10 0 0 0.014758 0 0 ISG20L2 81875 broad.mit.edu 37 1 156696882 156696882 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:156696882C>T ENST00000313146.6 - 1 1345 c.563G>A c.(562-564)gGc>gAc p.G188D ISG20L2_ENST00000368219.1_Missense_Mutation_p.G188D NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 188 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGGTCCTGTGCCCACCATCTC 0.517000 OREG0013885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 164 0 0 0.009096 0 0 NCK1 4690 broad.mit.edu 37 3 136664745 136664745 + Missense_Mutation SNP G G A rs149750260 TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:136664745G>A ENST00000469404.1 + 2 446 c.355G>A c.(355-357)Gtc>Atc p.V119I NCK1_ENST00000288986.2_Missense_Mutation_p.V183I|NCK1_ENST00000481752.1_Missense_Mutation_p.V183I NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 183 SH3 2. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 AGCAGCAGTCGTCAATAACCT 0.428000 27 114 0 0 0.027356 0 0 NBPF3 84224 broad.mit.edu 37 1 21806606 21806606 + Missense_Mutation SNP T T G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:21806606T>G ENST00000318220.6 + 14 2151 c.1103T>G c.(1102-1104)tTt>tGt p.F368C NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 424 NBPF 2. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTGGATAGATTTTATTCAACT 0.468000 3 97 0 0 0.004672 0 0 CSF1 1435 broad.mit.edu 37 1 110466699 110466699 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:110466699G>A ENST00000329608.6 + 6 1847 c.1456G>A c.(1456-1458)Gag>Aag p.E486K CSF1_ENST00000420111.2_Missense_Mutation_p.E188K|CSF1_ENST00000369801.1_Missense_Mutation_p.E370K|CSF1_ENST00000369802.3_Missense_Mutation_p.E486K|CSF1_ENST00000344188.5_Missense_Mutation_p.E370K NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 486 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGGCAGTCCGAGGGATCCTT 0.612000 20 61 0 0 0.018920 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42866219 42866219 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:42866219C>T ENST00000455697.1 - 2 385 c.100G>A c.(100-102)Gcc>Acc p.A34T PRICKLE1_ENST00000445766.2_Missense_Mutation_p.A34T|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.A34T|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.A34T|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.A34T NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 34 PET. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GGGACCCAGGCGTACTCCTCC 0.478000 11 43 0 0 0.010729 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 45 0 0 0.009096 0 0 CSMD1 64478 broad.mit.edu 37 8 3076900 3076900 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr8:3076900G>A ENST00000520002.1 - 30 5107 c.4552C>T c.(4552-4554)Ctc>Ttc p.L1518F CSMD1_ENST00000602723.1_Missense_Mutation_p.L1518F|CSMD1_ENST00000602557.1_Missense_Mutation_p.L1518F|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1517F|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1517F|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1517F|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1518F|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1518 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCCCAATGAGGGGGCTGTTG 0.478000 3 3 0 0 0.004672 0 0 PRG2 5553 broad.mit.edu 37 11 57154973 57154973 + Missense_Mutation SNP C C A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr11:57154973C>A ENST00000311862.5 - 6 717 c.644G>T c.(643-645)aGa>aTa p.R215I PRG2_ENST00000533605.1_Missense_Mutation_p.R204I|PRG2_ENST00000525955.1_Missense_Mutation_p.R215I NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAAAGGAAGTCTTCTGAGGCA 0.602000 9 44 3.09899e-07 3.2868e-07 0.004482 1 0 GPRC6A 222545 broad.mit.edu 37 6 117128262 117128262 + Silent SNP C C G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr6:117128262C>G ENST00000310357.3 - 3 627 c.606G>C c.(604-606)ctG>ctC p.L202L GPRC6A_ENST00000530250.1_Silent_p.L202L|GPRC6A_ENST00000368549.3_Silent_p.L202L NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 202 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATTTCTGAATCAGGTGAGCCA 0.398000 50 171 0 0 0.014410 0 0 RYR3 6263 broad.mit.edu 37 15 34150099 34150099 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr15:34150099G>A ENST00000389232.4 + 99 14196 c.14126G>A c.(14125-14127)tGc>tAc p.C4709Y RYR3_ENST00000415757.3_Missense_Mutation_p.C4704Y NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4709 C -> R (in Ref. 6; CAA52326). 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) GATATGAAGTGCGACGACATG 0.592000 6 41 0 0 0.021553 0 0 NID2 22795 broad.mit.edu 37 14 52473375 52473375 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr14:52473375G>A ENST00000216286.5 - 20 3883 c.3884C>T c.(3883-3885)aCc>aTc p.T1295I NID2_ENST00000541773.1_Missense_Mutation_p.T1194I NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1295 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CAGTTTTTTGGTTCCTTTTAA 0.428000 13 90 0 0 0.024245 0 0 UBA3 9039 broad.mit.edu 37 3 69111272 69111272 + Missense_Mutation SNP T T A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:69111272T>A ENST00000361055.4 - 10 806 c.752A>T c.(751-753)gAg>gTg p.E251V UBA3_ENST00000415609.2_Missense_Mutation_p.E210V|UBA3_ENST00000540295.1_Missense_Mutation_p.E74V|UBA3_ENST00000349511.4_Missense_Mutation_p.E237V NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 251 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) CCTTACATACTCAATACAGTG 0.343000 20 74 0 0 0.021523 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807840 15807840 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr19:15807840G>A ENST00000550308.1 + 13 1900 c.1520G>A c.(1519-1521)cGc>cAc p.R507H CYP4F12_ENST00000324632.9_Missense_Mutation_p.R507H NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TTGATCATGCGCGCCGAGGGC 0.562000 9 41 0 0 0.006214 0 0 CHODL 140578 broad.mit.edu 37 21 19628972 19628972 + Missense_Mutation SNP G G C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr21:19628972G>C ENST00000299295.2 + 2 617 c.226G>C c.(226-228)Gaa>Caa p.E76Q CHODL_ENST00000338326.3_Missense_Mutation_p.E35Q|CHODL_ENST00000400127.1_Missense_Mutation_p.E35Q|CHODL_ENST00000400128.1_Missense_Mutation_p.E35Q|CHODL_ENST00000400131.1_Missense_Mutation_p.E35Q|CHODL_ENST00000400135.1_Missense_Mutation_p.E35Q|CHODL_ENST00000543733.1_Missense_Mutation_p.E57Q NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 76 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) GAATGAAGCAGAACAGAAGTT 0.512000 19 79 0 0 0.008871 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115677 15115677 + Missense_Mutation SNP C C T rs147577833 byFrequency TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr3:15115677C>T ENST00000253699.3 - 14 2580 c.1967G>A c.(1966-1968)cGc>cAc p.R656H ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 656 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 TTTCAGGATGCGGGCTGAAGG 0.562000 4 102 0 0 0.009096 0 0 FBXO44 93611 broad.mit.edu 37 1 11718436 11718436 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:11718436C>T ENST00000376770.1 + 4 876 c.378C>T c.(376-378)ttC>ttT p.F126F FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000251547.5_Silent_p.F126F|FBXO44_ENST00000376768.1_Intron NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 126 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 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;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) AGAAATACTTCGTTACTTCAT 0.527000 28 81 0 0 0.041601 0 0 RGL4 266747 broad.mit.edu 37 22 24038844 24038844 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr22:24038844G>A ENST00000290691.5 + 7 2300 c.1130G>A c.(1129-1131)aGa>aAa p.R377K RGL4_ENST00000401461.1_Missense_Mutation_p.R241K NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 377 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 AACCCCCAGAGAGTCCAGATG 0.652000 7 26 0 0 0.006214 0 0 HRNR 388697 broad.mit.edu 37 1 152188507 152188507 + Silent SNP A A T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr1:152188507A>T ENST00000368801.2 - 3 5673 c.5598T>A c.(5596-5598)ggT>ggA p.G1866G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1866 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGAAGACTGACCTGAGCCAG 0.582000 64 1133 0 0 0.042209 0 0 ANKRD30BP3 338579 broad.mit.edu 37 10 45652235 45652235 + RNA SNP C C G rs149362183 TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr10:45652235C>G ENST00000427229.2 + 0 1749 GAAGGAACATCTGAAGGAACA 0.478000 3 26 0 0 0.014758 0 0 PCDH12 51294 broad.mit.edu 37 5 141325324 141325324 + Silent SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr5:141325324C>T ENST00000231484.3 - 4 4387 c.3177G>A c.(3175-3177)gcG>gcA p.A1059A NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 1059 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGAGAGTCTCGCCATCCAGG 0.667000 20 56 0 0 0.012319 0 0 PA2G4 5036 broad.mit.edu 37 12 56505295 56505295 + Missense_Mutation SNP G G C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:56505295G>C ENST00000303305.6 + 12 1520 c.1101G>C c.(1099-1101)caG>caC p.Q367H PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 367 Interaction with RNA (By similarity).|Necessary for nucleolar localization. cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding p.Q367H(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) GAAAAACCCAGAAAAAGAAAA 0.393000 22 104 0 0 0.014323 0 0 FASN 2194 broad.mit.edu 37 17 80045301 80045301 + Silent SNP C C T rs146226779 TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr17:80045301C>T ENST00000306749.2 - 20 3341 c.3123G>A c.(3121-3123)tcG>tcA p.S1041S NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1041 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CGTGCTTGGCCGAGCCCAGGA 0.622000 10 50 0 0 0.010729 0 0 MAP1A 4130 broad.mit.edu 37 15 43816968 43816968 + Silent SNP C C A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr15:43816968C>A ENST00000382031.1 + 5 4042 c.4011C>A c.(4009-4011)gtC>gtA p.V1337V MAP1A_ENST00000300231.5_Silent_p.V1099V|MAP1A_ENST00000399453.1_Silent_p.V1099V P78559 MAP1A_HUMAN microtubule-associated protein 1A 1099 Missing (in Ref. 4; AAD00355). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAGCAATAGTCTTTGAGATTA 0.547000 18 76 4.54149e-19 5.0461e-19 0.014323 1 0 KNDC1 85442 broad.mit.edu 37 10 135015084 135015084 + Silent SNP C C T rs142572566 TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr10:135015084C>T ENST00000304613.3 + 17 3090 c.3069C>T c.(3067-3069)gaC>gaT p.D1023D KNDC1_ENST00000368571.2_Silent_p.D958D|KNDC1_ENST00000368572.2_Silent_p.D1025D Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1023 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TGGACTCGGACGCACTGTCAC 0.627000 13 55 0 0 0.016723 0 0 PABPC3 5042 broad.mit.edu 37 13 25670487 25670487 + Missense_Mutation SNP T T C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr13:25670487T>C ENST00000281589.3 + 1 188 c.151T>C c.(151-153)Tcc>Ccc p.S51P NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 51 RRM 1. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CACCAGCGGCTCCTCCAACTA 0.562000 12 53 0 0 0.013537 0 0 MYB 4602 broad.mit.edu 37 6 135510957 135510957 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr6:135510957G>A ENST00000341911.5 + 4 441 c.242G>A c.(241-243)cGa>cAa p.R81Q MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.R81Q|MYB_ENST00000420123.2_Missense_Mutation_p.R57Q|MYB_ENST00000525369.1_Missense_Mutation_p.R81Q|MYB_ENST00000316528.8_Missense_Mutation_p.R81Q|MYB_ENST00000527615.1_Missense_Mutation_p.R81Q|MYB_ENST00000533624.1_Missense_Mutation_p.R81Q|MYB_ENST00000442647.2_Missense_Mutation_p.R81Q|MYB_ENST00000534121.1_Missense_Mutation_p.R81Q|MYB_ENST00000534044.1_Missense_Mutation_p.R81Q|MYB_ENST00000367814.4_Missense_Mutation_p.R81Q NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 81 HTH myb-type 1. blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) TGCCAGCACCGATGGCAGAAA 0.398000 T NFIB adenoid cystic carcinoma 16 98 0 0 0.008871 0 0 LRRK1 79705 broad.mit.edu 37 15 101589973 101589973 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr15:101589973G>A ENST00000284395.5 + 24 3815 c.3415G>A c.(3415-3417)Gat>Aat p.D1139N LRRK1_ENST00000388948.3_Missense_Mutation_p.D1142N Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1142 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCCTTGATTGATCAGTGGTT 0.463000 11 43 0 0 0.016723 0 0 GRIN2D 2906 broad.mit.edu 37 19 48922614 48922614 + Missense_Mutation SNP A A G TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr19:48922614A>G ENST00000263269.3 + 8 1947 c.1859A>G c.(1858-1860)aAg>aGg p.K620R NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 620 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GCCACGGGCAAGCGTGAGTCC 0.597000 7 31 0 0 0.038147 0 0 MYO15A 51168 broad.mit.edu 37 17 18057108 18057108 + Silent SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr17:18057108G>A ENST00000205890.5 + 43 8324 c.7986G>A c.(7984-7986)ctG>ctA p.L2662L MYO15A_ENST00000418233.3_5'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2662 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CGCGATCGCTGGAGCCCCCTG 0.527000 4 33 0 0 0.009096 0 0 FIBCD1 84929 broad.mit.edu 37 9 133805083 133805083 + Silent SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr9:133805083G>A ENST00000372338.4 - 2 665 c.423C>T c.(421-423)gcC>gcT p.A141A FIBCD1_ENST00000448616.1_Silent_p.A141A|FIBCD1_ENST00000253018.4_5'UTR|FIBCD1_ENST00000372337.2_5'UTR NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 141 signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GCAGCTGGTCGGCCAGCGTGT 0.731000 5 9 0 0 0.014758 0 0 ZNF543 125919 broad.mit.edu 37 19 57838010 57838010 + Missense_Mutation SNP T T C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr19:57838010T>C ENST00000321545.4 + 3 500 c.155T>C c.(154-156)tTg>tCg p.L52S NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGCTGTCCTTTGTTCAAACCA 0.493000 10 51 0 0 0.013537 0 0 WAPAL 23063 broad.mit.edu 37 10 88277386 88277386 + Silent SNP T T C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr10:88277386T>C ENST00000298767.5 - 2 913 c.441A>G c.(439-441)acA>acG p.T147T NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 147 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 CAATTCGGTTTGTGCTCTTTT 0.363000 3 76 0 0 0.004672 0 0 PA2G4 5036 broad.mit.edu 37 12 56504766 56504766 + Missense_Mutation SNP G G C TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr12:56504766G>C ENST00000303305.6 + 10 1280 c.861G>C c.(859-861)aaG>aaC p.K287N PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 287 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) AAGATGAGAAGAAGGCTCGGA 0.428000 7 39 0 0 0.029380 0 0 TAF7 6879 broad.mit.edu 37 5 140698816 140698816 + Missense_Mutation SNP C C T TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr5:140698816C>T ENST00000313368.5 - 1 1514 c.796G>A c.(796-798)Gaa>Aaa p.E266K NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 266 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGCTGTTCATCTGATTCA 0.448000 32 125 0 0 0.013726 0 0 LRRC30 339291 broad.mit.edu 37 18 7231177 7231177 + Missense_Mutation SNP G G A TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr18:7231177G>A ENST00000383467.2 + 1 55 c.41G>A c.(40-42)gGc>gAc p.G14D NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 14 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 AAGGATAAGGGCCCCAAGAGG 0.632000 11 73 0 0 0.013537 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-CR-6482-01A-11D-1870-08 TCGA-CR-6482-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 684bcd80-30fb-49e5-b72a-09502a9d1468 b03408fe-f1c6-4276-9c02-1d783cc12fa5 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 3 3 --- --- --- ---