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 GCC2 9648 broad.mit.edu 37 2 109087033 109087033 + Silent SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr2:109087033C>T ENST00000309863.6 + 6 1962 c.1248C>T c.(1246-1248)tgC>tgT p.C416C NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 416 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AACAGTTTTGCTATACTGTAG 0.294000 40 46 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43763263 43763263 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:43763263G>A ENST00000418820.2 - 3 553 c.455C>T c.(454-456)aCc>aTc p.T152I PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.T152I|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.T245I Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 152 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GTTGTTGATGGTGATGTAGGG 0.473000 7 144 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37850211 37850211 + Missense_Mutation SNP G G T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr4:37850211G>T ENST00000381967.4 + 11 1451 c.1351G>T c.(1351-1353)Gct>Tct p.A451S PGM2_ENST00000537241.1_Missense_Mutation_p.A291S NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 451 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TGCAGAGTTGGCTAGCTTCCT 0.403000 51 58 6.18754e-15 7.29663e-15 1 1 0 DPY19L3 147991 broad.mit.edu 37 19 32949393 32949393 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:32949393G>A ENST00000342179.5 + 12 1515 c.1300G>A c.(1300-1302)Gtt>Att p.V434I DPY19L3_ENST00000392250.2_Missense_Mutation_p.V434I|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Missense_Mutation_p.V434I NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 434 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TGTAGCATTCGTTGTTGCCTT 0.358000 4 95 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57194336 57194336 + Silent SNP A A G TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr7:57194336A>G ENST00000331162.4 - 3 399 c.129T>C c.(127-129)gaT>gaC p.D43D NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CTAACATCACATCTCTATATA 0.388000 24 178 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 3 17 0 0 1 0 0 ADRB1 153 broad.mit.edu 37 10 115804661 115804661 + Missense_Mutation SNP A A T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr10:115804661A>T ENST00000369295.2 + 1 856 c.770A>T c.(769-771)aAg>aTg p.K257M NM_000684.2 NP_000675.1 P08588 ADRB1_HUMAN adrenoceptor beta 1 257 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) CAGGTGAAGAAGATCGACAGC 0.721000 7 16 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140406604 140406604 + Silent SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:140406604C>T ENST00000286349.3 + 3 1271 c.1080C>T c.(1078-1080)atC>atT p.I360I NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 360 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AATTCAACATCTTAAAAAACA 0.373000 20 29 0 0 1 0 0 POLDIP3 84271 broad.mit.edu 37 22 42997998 42997998 + Missense_Mutation SNP A A C TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr22:42997998A>C ENST00000252115.5 - 3 619 c.515T>G c.(514-516)gTc>gGc p.V172G POLDIP3_ENST00000451060.2_Missense_Mutation_p.V16G|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000339677.6_Intron NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 172 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 GTGGTTATTGACAACATTGAT 0.493000 45 58 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247153 149247153 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr2:149247153G>A ENST00000407073.1 + 12 4250 c.3253G>A c.(3253-3255)Gta>Ata p.V1085I MBD5_ENST00000404807.1_Missense_Mutation_p.V1318I NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1085 chromosome|nucleus chromatin binding|DNA binding p.V1085I(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TGATGCTTCCGTAGATGCCAT 0.502000 29 50 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 6 45 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83328462 83328462 + Splice_Site SNP C C A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr15:83328462C>A ENST00000261722.3 - 26 3306 c.3098_splice c.e26-1 p.R1033_splice RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Splice_Site_p.R1001_splice|AP3B2_ENST00000535359.1_Splice_Site_p.R1052_splice NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 1033 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TCCCTGCAAACCTGAGGTGGG 0.592000 11 15 0.00829132 0.00842614 1 1 0 CDHR2 54825 broad.mit.edu 37 5 176002375 176002375 + Missense_Mutation SNP C C A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr5:176002375C>A ENST00000510636.1 + 9 990 c.716C>A c.(715-717)cCc>cAc p.P239H CDHR2_ENST00000261944.5_Missense_Mutation_p.P239H|CDHR2_ENST00000506348.1_Missense_Mutation_p.P239H NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 239 Cadherin 2. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding p.P239H(1) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GACCTTGACCCCCAGTTTGTC 0.632000 15 33 1.3612e-06 1.49255e-06 1 1 0 ZNF702P 79986 broad.mit.edu 37 19 53473589 53473589 + RNA SNP T T G rs144381936 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:53473589T>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA GAGCTACAATTAAAGGCTTTG 0.333000 3 38 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113772841 113772841 + Missense_Mutation SNP G G A rs121964929 TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr13:113772841G>A ENST00000375581.3 + 9 955 c.920G>A c.(919-921)cGc>cAc p.R307H F7_ENST00000541084.1_Missense_Mutation_p.R238H|F7_ENST00000346342.3_Missense_Mutation_p.R285H NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 307 Peptidase S1. R -> C (in FA7D).|R -> H (in FA7D; Mie). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GCGCTGCTCCGCCTGCACCAG 0.667000 23 24 0 0 1 0 0 NRSN1 140767 broad.mit.edu 37 6 24146163 24146163 + Missense_Mutation SNP C C A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr6:24146163C>A ENST00000378491.4 + 4 878 c.577C>A c.(577-579)Ctg>Atg p.L193M NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 193 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 CCAGCCTCTACTGGCAACCTG 0.483000 21 105 1.22574e-08 1.38034e-08 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 87 0 0 1 0 0 PLIN3 10226 broad.mit.edu 37 19 4852119 4852119 + Silent SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:4852119C>T ENST00000221957.4 - 5 719 c.543G>A c.(541-543)ttG>ttA p.L181L PLIN3_ENST00000585479.1_Silent_p.L181L|PLIN3_ENST00000592528.1_Silent_p.L169L NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 181 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) CCATCTGGCCCAAGCGGGAGC 0.657000 OREG0025175 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 3 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 64 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158619724 158619724 + Missense_Mutation SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr1:158619724C>T ENST00000368148.3 - 25 3671 c.3491G>A c.(3490-3492)cGc>cAc p.R1164H SPTA1_ENST00000368147.3_Missense_Mutation_p.R1164H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1164 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGAACCCCAGCGGGAATTCAA 0.443000 14 23 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103598058 103598058 + Missense_Mutation SNP G G A rs140309001 TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr14:103598058G>A ENST00000560869.1 + 8 2020 c.1381G>A c.(1381-1383)Ggc>Agc p.G461S TNFAIP2_ENST00000333007.1_Missense_Mutation_p.G461S|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.G130S Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 461 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) CAAGAGCCACGGCTTTGACAC 0.632000 11 28 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92909807 92909807 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr14:92909807G>A ENST00000532405.1 + 7 872 c.646G>A c.(646-648)Gtg>Atg p.V216M SLC24A4_ENST00000393265.2_Missense_Mutation_p.V152M|SLC24A4_ENST00000531433.1_Missense_Mutation_p.V216M|SLC24A4_ENST00000351924.5_Missense_Mutation_p.V199M|SLC24A4_ENST00000298877.1_Missense_Mutation_p.V199M Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 216 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CTCTGTCATCGTGCTCATCGT 0.642000 20 46 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726846 32726846 + Missense_Mutation SNP C C T rs142243133 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr6:32726846C>T ENST00000435145.2 - 3 488 c.427G>A c.(427-429)Gtc>Atc p.V143I HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 143 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCGAGCAGACCAGCAGGTTG 0.552000 4 88 0 0 1 0 0 HOXC8 3224 broad.mit.edu 37 12 54403335 54403335 + Silent SNP T T C TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr12:54403335T>C ENST00000040584.4 + 1 504 c.267T>C c.(265-267)taT>taC p.Y89Y NM_022658.3 NP_073149.1 P31273 HXC8_HUMAN homeobox C8 89 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 8 CCAAATTCTATGGCTACGAGG 0.567000 94 117 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 816150 816150 + Silent SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr16:816150G>A ENST00000566549.1 + 11 1404 c.987G>A c.(985-987)gcG>gcA p.A329A MSLN_ENST00000563941.1_Silent_p.A329A|MSLN_ENST00000545450.2_Silent_p.A329A|MSLN_ENST00000382862.3_Silent_p.A329A Q13421 MSLN_HUMAN mesothelin 329 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GCGTGGATGCGGCCCTGCTGG 0.582000 23 27 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121206448 121206448 + Missense_Mutation SNP G G T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:121206448G>T ENST00000264233.5 - 16 5458 c.5330C>A c.(5329-5331)cCt>cAt p.P1777H NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1777 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) AATATCTGAAGGTGAGCCAAA 0.378000 DNA polymerases (catalytic subunits) 39 65 6.70999e-13 7.76619e-13 1 1 0 DSG4 147409 broad.mit.edu 37 18 28991109 28991109 + Missense_Mutation SNP A A T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr18:28991109A>T ENST00000359747.4 + 14 2139 c.2110A>T c.(2110-2112)Acc>Tcc p.T704S DSG4_ENST00000308128.4_Intron|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 699 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGGTGGTGGCACCGCAGACGG 0.517000 12 17 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54792354 54792354 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr6:54792354G>A ENST00000306858.7 + 4 774 c.658G>A c.(658-660)Ggg>Agg p.G220R NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 220 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTCAAAAACAGGGGCAAAATT 0.328000 37 148 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119449158 119449158 + Missense_Mutation SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:119449158C>T ENST00000273390.5 + 8 1029 c.952C>T c.(952-954)Cgg>Tgg p.R318W NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 p.R318W(1) CTTGAATGCCCGGTGGTCTAA 0.438000 6 183 0 0 1 0 0 CSF3R 1441 broad.mit.edu 37 1 36934779 36934779 + Silent SNP G G C TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr1:36934779G>C ENST00000373103.1 - 12 2101 c.1554C>G c.(1552-1554)gtC>gtG p.V518V CSF3R_ENST00000338937.5_Silent_p.V518V|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Silent_p.V518V|CSF3R_ENST00000440588.2_Silent_p.V518V|CSF3R_ENST00000373106.1_Silent_p.V518V|CSF3R_ENST00000361632.4_Silent_p.V518V|CSF3R_ENST00000331941.5_Silent_p.V518V|CSF3R_ENST00000418048.2_Silent_p.V518V NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 518 Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) AGTAGGCATAGACATGCTGGG 0.512000 6 20 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6082607 6082607 + Nonsense_Mutation SNP C C A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr7:6082607C>A ENST00000199389.6 - 8 894 c.748G>T c.(748-750)Gag>Tag p.E250* EIF2AK1_ENST00000536084.1_Nonsense_Mutation_p.E126*|EIF2AK1_ENST00000495565.1_5'UTR NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 250 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) GATGGCAACTCAATGGCAGCT 0.398000 21 48 2.89027e-11 3.31453e-11 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49671518 49671518 + Silent SNP A A G rs13336762 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr16:49671518A>G ENST00000561648.1 - 4 1598 c.1545T>C c.(1543-1545)aaT>aaC p.N515N ZNF423_ENST00000563137.2_Silent_p.N455N|ZNF423_ENST00000567169.1_Silent_p.N398N|ZNF423_ENST00000562520.1_Silent_p.N455N|ZNF423_ENST00000562871.1_Silent_p.N455N|ZNF423_ENST00000262383.2_Silent_p.N515N|ZNF423_ENST00000535559.1_Silent_p.N398N NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 515 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.N515N(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) AGAAGAAAGCATTATTACCGT 0.582000 3 25 0 0 1 0 0 TMEFF1 8577 broad.mit.edu 37 9 103271360 103271360 + Missense_Mutation SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr9:103271360C>T ENST00000374879.4 + 3 812 c.380C>T c.(379-381)gCt>gTt p.A127V MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.G90G|TMEFF1_ENST00000334943.6_Missense_Mutation_p.A88V NM_003692.4 NP_003683.2 transmembrane protein with EGF-like and two follistatin-like domains 1 NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1) 19 Acute lymphoblastic leukemia(62;0.0452) CTCAGAAGGGCTGCTTGTAAG 0.363000 36 53 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879304 3879304 + Silent SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr18:3879304G>A ENST00000315677.3 - 4 1360 c.765C>T c.(763-765)aaC>aaT p.N255N DLGAP1_ENST00000581527.1_Silent_p.N255N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.N255N|DLGAP1_ENST00000515196.2_Silent_p.N255N NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 255 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) ACTTGACGTCGTTGTTGCTCC 0.667000 5 78 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43522967 43522967 + Missense_Mutation SNP A A T rs151073824 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:43522967A>T ENST00000401740.1 - 3 767 c.664T>A c.(664-666)Tca>Aca p.S222T PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Missense_Mutation_p.S100T|PSG11_ENST00000320078.7_Missense_Mutation_p.S222T|PSG11_ENST00000306322.7_Missense_Mutation_p.S100T Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 222 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GCACTCCCTGAGTTCCATATT 0.498000 7 203 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25456820 25456820 + RNA SNP G G A rs28602751 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr15:25456820G>A ENST00000424208.1 + 0 2451 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TCAGCCAGGTGCTCAGCCCCT 0.587000 4 58 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99671146 99671146 + Missense_Mutation SNP A A T rs141776398 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr15:99671146A>T ENST00000336292.6 + 5 2698 c.2578A>T c.(2578-2580)Atc>Ttc p.I860F SYNM_ENST00000328642.7_Missense_Mutation_p.I860F|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.I575F NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 861 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 GGAATCCACCATCAGGTACTC 0.572000 3 43 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123269106 123269106 + Missense_Mutation SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr7:123269106C>T ENST00000451558.1 + 12 1579 c.1058C>T c.(1057-1059)gCg>gTg p.A353V ASB15_ENST00000540573.1_Missense_Mutation_p.A353V|ASB15_ENST00000275699.3_Missense_Mutation_p.A353V|ASB15_ENST00000451215.1_Missense_Mutation_p.A353V|ASB15_ENST00000434204.1_Missense_Mutation_p.A353V Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 353 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 AGGAAGACTGCGCTGTATTTT 0.443000 51 193 0 0 1 0 0 GPX8 493869 broad.mit.edu 37 5 54460037 54460037 + Silent SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr5:54460037G>A ENST00000503787.1 + 3 696 c.621G>A c.(619-621)gaG>gaA p.E207E GPX8_ENST00000515370.1_Silent_p.E156E|GPX8_ENST00000296734.6_3'UTR|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000506123.1_3'UTR NM_001008397.2 NP_001008398.2 Q8TED1 GPX8_HUMAN glutathione peroxidase 8 (putative) 207 response to oxidative stress integral to membrane glutathione peroxidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1) 11 Glutathione(DB00143) AAAAGAAAGAGGATCTATGAG 0.408000 21 33 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68930453 68930453 + Missense_Mutation SNP G G A rs141208409 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr4:68930453G>A ENST00000356291.2 - 8 1024 c.965C>T c.(964-966)cCa>cTa p.P322L RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 322 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 TGTTTTAGGTGGCAACTTTAT 0.388000 4 69 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634539 70634539 + Nonsense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr14:70634539G>A ENST00000381269.2 - 2 1354 c.601C>T c.(601-603)Cga>Tga p.R201* SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.R201*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.R201*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.R201*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.R201* NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 201 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AAGAAGACTCGTAGATGCTTG 0.493000 20 33 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65412112 65412112 + Missense_Mutation SNP A A G TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chrX:65412112A>G ENST00000519389.1 + 7 1545 c.1366A>G c.(1366-1368)Act>Gct p.T456A HEPH_ENST00000374727.3_Missense_Mutation_p.T405A|HEPH_ENST00000441993.2_Missense_Mutation_p.T405A|HEPH_ENST00000343002.2_Missense_Mutation_p.T402A|HEPH_ENST00000336279.5_Missense_Mutation_p.T135A|HEPH_ENST00000419594.1_Missense_Mutation_p.T405A Q9BQS7 HEPH_HUMAN hephaestin 402 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TGATGGGAGTACTGGGAAGAA 0.493000 29 5 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724405 38724405 + Missense_Mutation SNP T T C rs140940981 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr14:38724405T>C ENST00000342213.2 - 1 1169 c.823A>G c.(823-825)Acg>Gcg p.T275A NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 275 EGF-like. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) TCGAAGCCCGTAGCACATTCG 0.667000 71 252 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64326680 64326680 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr11:64326680G>A ENST00000301891.4 + 2 841 c.467G>A c.(466-468)gGc>gAc p.G156D SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.G156D|SLC22A11_ENST00000377581.3_Missense_Mutation_p.G156D NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 156 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) ATCCTGGTGGGCTCCTTTATC 0.602000 23 30 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48619140 48619140 + Splice_Site SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:48619140C>T ENST00000328333.8 - 48 4828 c.4722_splice c.e48+1 p.R1574_splice COL7A1_ENST00000454817.1_Splice_Site_p.R1574_splice NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1574 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTCACTTACCCGTTCCCCTTG 0.582000 36 72 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593986 16593986 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr17:16593986G>A ENST00000443444.2 + 1 412 c.272G>A c.(271-273)gGc>gAc p.G91D RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G91D|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G91D|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G91D|CCDC144A_ENST00000340621.5_Missense_Mutation_p.G91D|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Missense_Mutation_p.G91D A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 91 GCCCGGTCGGGCGACGTCCCT 0.642000 62 96 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36840695 36840695 + RNA SNP A A G rs3742593 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr14:36840695A>G ENST00000557188.1 + 0 326 TCCCGGGACGATTCAGGGGCC 0.478000 27 75 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157557294 157557294 + Missense_Mutation SNP A A T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr1:157557294A>T ENST00000271532.1 - 5 754 c.619T>A c.(619-621)Tct>Act p.S207T FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 207 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AGGTTTACAGAATTCCCCTCT 0.478000 67 236 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22375856 22375856 + Nonsense_Mutation SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:22375856C>T ENST00000397121.2 - 2 409 c.92G>A c.(91-93)tGg>tAg p.W31* NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CTTCATATTCCAGGGCTCTTT 0.418000 4 84 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40716080 40716080 + Missense_Mutation SNP C C T rs143964295 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr17:40716080C>T ENST00000393818.2 + 2 1258 c.802C>T c.(802-804)Ccc>Tcc p.P268S COASY_ENST00000449624.1_5'UTR|COASY_ENST00000420359.1_Missense_Mutation_p.P268S|COASY_ENST00000590958.1_Missense_Mutation_p.P297S|COASY_ENST00000421097.2_Missense_Mutation_p.P268S NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 268 Phosphopantetheine adenylyltransferase. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) TGATGTCATCCCCCTGCTGGA 0.572000 4 42 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129637033 129637033 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr6:129637033G>A ENST00000421865.2 + 26 3911 c.3862G>A c.(3862-3864)Gtc>Atc p.V1288I NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1288 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TAGAATTATCGTCAGGCATAT 0.418000 11 273 0 0 1 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560590 67560590 + RNA SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr11:67560590C>T ENST00000528089.1 - 0 1160 AAGTTTTATCCGCTTTCCCAT 0.413000 3 40 0 0 1 0 0 NXPE3 91775 broad.mit.edu 37 3 101520088 101520088 + Missense_Mutation SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:101520088C>T ENST00000422132.1 + 2 300 c.103C>T c.(103-105)Cat>Tat p.H35Y NXPE3_ENST00000273347.5_Missense_Mutation_p.H35Y|NXPE3_ENST00000477909.1_Missense_Mutation_p.H35Y|NXPE3_ENST00000491511.1_Missense_Mutation_p.H35Y neurexophilin and PC-esterase domain family, member 3 GTACTTGGACCATGAGACTGT 0.443000 56 77 0 0 1 0 0 ZRSR1 7310 broad.mit.edu 37 5 112227939 112227939 + Silent SNP T T C rs712666 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr5:112227939T>C ENST00000391338.1 + 1 627 c.603T>C c.(601-603)tcT>tcC p.S201S REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000474542.2_Intron NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 p.S201S(1) breast(1)|skin(1)|stomach(2) 4 TCCCAACATCTAGTCCTACCC 0.453000 5 124 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70335437 70335437 + Silent SNP T T C TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr11:70335437T>C ENST00000338508.4 - 31 2570 c.2571A>G c.(2569-2571)ctA>ctG p.L857L SHANK2_ENST00000449833.2_Silent_p.L261L|SHANK2_ENST00000423696.2_Silent_p.L477L|SHANK2_ENST00000409161.1_Silent_p.L260L|SHANK2_ENST00000409530.1_3'UTR Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 477 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACTAACCTGATAGAAAGATTC 0.408000 37 68 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213835 9213835 + Missense_Mutation SNP T T C rs146597516 TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:9213835T>C ENST00000305456.2 - 1 147 c.148A>G c.(148-150)Agc>Ggc p.S50G NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 AGGAACAGGCTGAAAAGGACG 0.498000 3 43 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7975184 7975184 + Nonsense_Mutation SNP G G T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:7975184G>T ENST00000545011.1 + 4 564 c.499G>T c.(499-501)Gag>Tag p.E167* MAP2K7_ENST00000397979.3_Nonsense_Mutation_p.E125*|MAP2K7_ENST00000397981.3_Nonsense_Mutation_p.E125*|MAP2K7_ENST00000397983.3_Nonsense_Mutation_p.E141* O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 125 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) GAACTTGGGCGAGATGGGCAG 0.672000 9 5 3.86212e-05 4.09123e-05 1 1 0 NUP188 23511 broad.mit.edu 37 9 131767758 131767758 + Silent SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr9:131767758G>A ENST00000372577.2 + 40 4707 c.4686G>A c.(4684-4686)ctG>ctA p.L1562L NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1562 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GCAAGACGCTGGCAGCCCTGC 0.582000 45 49 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6432183 6432183 + Missense_Mutation SNP A A G TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr11:6432183A>G ENST00000389906.2 - 2 494 c.395T>C c.(394-396)cTa>cCa p.L132P APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.L132P|APBB1_ENST00000299402.6_Missense_Mutation_p.L132P NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 132 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) AGGTCCTCGTAGGCCTCGGTT 0.627000 73 82 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 49 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828558 144828558 + Missense_Mutation SNP T T C TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr1:144828558T>C ENST00000338347.4 + 14 1604 c.1604T>C c.(1603-1605)aTg>aCg p.M535T NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.M133T|NBPF9_ENST00000440491.2_3'UTR neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GGCGTGCTGATGGAAGTGGAA 0.463000 5 95 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38573083 38573083 + Missense_Mutation SNP G G T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:38573083G>T ENST00000222345.6 + 3 1387 c.878G>T c.(877-879)gGc>gTc p.G293V NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 293 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCCTCGGCGGCGGGGACACG 0.697000 8 3 0.00307968 0.003208 1 1 0 ACTR1B 10120 broad.mit.edu 37 2 98275439 98275439 + Missense_Mutation SNP G G T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr2:98275439G>T ENST00000289228.5 - 5 559 c.343C>A c.(343-345)Ctc>Atc p.L115I NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 115 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 CTCGGGTTGAGCGGGGCCTCC 0.582000 50 82 2.55665e-31 3.07289e-31 1 1 0 ORC1 4998 broad.mit.edu 37 1 52850385 52850385 + Missense_Mutation SNP T T A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr1:52850385T>A ENST00000371568.3 - 11 1810 c.1592A>T c.(1591-1593)tAc>tTc p.Y531F ORC1_ENST00000371566.1_Missense_Mutation_p.Y531F NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 531 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|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 cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 ACCGGAGATGTACATGCACCT 0.522000 12 7 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49525207 49525207 + Silent SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr16:49525207C>T ENST00000561648.1 - 8 3887 c.3834G>A c.(3832-3834)acG>acA p.T1278T ZNF423_ENST00000563137.2_Silent_p.T1218T|ZNF423_ENST00000567169.1_Silent_p.T1161T|ZNF423_ENST00000562520.1_Silent_p.T1218T|ZNF423_ENST00000562871.1_Silent_p.T1218T|ZNF423_ENST00000262383.2_Silent_p.T1278T|ZNF423_ENST00000535559.1_Silent_p.T1161T NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1278 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCTGGCTCATCGTGTGGTTCT 0.572000 49 6 0 0 1 0 0 ADAT3 113179 broad.mit.edu 37 19 1912900 1912900 + Missense_Mutation SNP A A C rs146212621 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:1912900A>C ENST00000329478.2 + 2 1074 c.854A>C c.(853-855)gAc>gCc p.D285A SCAMP4_ENST00000316097.8_Intron|ADAT3_ENST00000602400.1_Missense_Mutation_p.D269A|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_Intron Q96EY9 ADAT3_HUMAN adenosine deaminase, tRNA-specific 3 269 tRNA processing hydrolase activity|zinc ion binding breast(1)|kidney(3)|pancreas(1)|skin(2) 7 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGTAAACTGGACGCAGACGAG 0.721000 3 13 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113299440 113299440 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr8:113299440G>A ENST00000297405.5 - 58 9428 c.9184C>T c.(9184-9186)Ccc>Tcc p.P3062S CSMD3_ENST00000343508.3_Missense_Mutation_p.P3022S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2893S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2992S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3062 Sushi 22. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCATGGCCGGGAGTACCTGGA 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 68 43 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235926 23235926 + Missense_Mutation SNP A A G rs148602805 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr14:23235926A>G ENST00000285848.5 + 1 196 c.196A>G c.(196-198)Atg>Gtg p.M66V OXA1L_ENST00000412791.1_Missense_Mutation_p.M6V|OXA1L_ENST00000604262.1_Missense_Mutation_p.M6V NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 6 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) GATGGGACTAATGTGCGGACG 0.617000 7 207 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156819961 156819961 + Missense_Mutation SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr5:156819961C>T ENST00000347377.6 + 31 4146 c.3715C>T c.(3715-3717)Cgc>Tgc p.R1239C CYFIP2_ENST00000522463.1_Missense_Mutation_p.R1043C|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R938C|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R1264C|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R1213C|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R1239C|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R1164C NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1264 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGAGCATGTGCGCTGCTTCCA 0.512000 31 38 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55886820 55886820 + Missense_Mutation SNP C C A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr16:55886820C>A ENST00000521992.1 - 11 1478 c.1333G>T c.(1333-1335)Gca>Tca p.A445S CES5A_ENST00000520435.1_Missense_Mutation_p.A386S|CES5A_ENST00000319165.9_Missense_Mutation_p.A416S|CES5A_ENST00000290567.9_Missense_Mutation_p.A416S|CES5A_ENST00000518005.1_Missense_Mutation_p.A310S|CES5A_ENST00000541580.1_5'UTR NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 416 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GTGATCAGTGCAGGGACCACA 0.507000 41 7 4.16155e-14 4.86162e-14 1 1 0 KDM5A 5927 broad.mit.edu 37 12 419030 419030 + Missense_Mutation SNP T T A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr12:419030T>A ENST00000399788.2 - 22 3679 c.3317A>T c.(3316-3318)gAc>gTc p.D1106V KDM5A_ENST00000382815.4_Missense_Mutation_p.D1106V NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1106 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 AGGCTCCAGGTCCAGATCCTT 0.438000 T NUP98 AML 40 56 0 0 1 0 0 LTA 4049 broad.mit.edu 37 6 31541368 31541368 + Silent SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr6:31541368G>A ENST00000454783.1 + 4 774 c.516G>A c.(514-516)gcG>gcA p.A172A LTA_ENST00000418386.2_Silent_p.A172A NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 172 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding p.A172A(1) endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) ACGGGGCTGCGTTCCAGCTCA 0.597000 73 251 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108466321 108466321 + Silent SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr10:108466321C>T ENST00000263054.6 - 8 1222 c.1215G>A c.(1213-1215)ccG>ccA p.P405P SORCS1_ENST00000344440.6_Silent_p.P405P NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 405 integral to membrane neuropeptide receptor activity|protein binding p.P405P(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AAGCATATTTCGGAAGCTTCA 0.458000 26 55 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266104 41266104 + Missense_Mutation SNP G G T rs28931589 TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:41266104G>T ENST00000349496.5 + 3 381 c.101G>T c.(100-102)gGa>gTa p.G34V CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34V NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 34 G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CTGGACTCTGGAATCCATTCT 0.488000 G34E(AGS_STOMACH) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 22 23 1.87028e-06 2.03292e-06 1 1 0 MECOM 2122 broad.mit.edu 37 3 168807868 168807868 + Missense_Mutation SNP A A T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:168807868A>T ENST00000464456.1 - 13 3930 c.2730T>A c.(2728-2730)agT>agA p.S910R MECOM_ENST00000468789.1_Missense_Mutation_p.S919R|MECOM_ENST00000494292.1_Missense_Mutation_p.S1098R|MECOM_ENST00000472280.1_Missense_Mutation_p.S920R|MECOM_ENST00000392736.3_Missense_Mutation_p.S919R|MECOM_ENST00000264674.3_Missense_Mutation_p.S984R|MECOM_ENST00000460814.1_Missense_Mutation_p.S910R|MECOM_ENST00000433243.2_Missense_Mutation_p.S920R NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CATGTAAATTACTTGTCACTG 0.433000 67 83 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195410627 195410627 + RNA SNP A A G rs6583272 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:195410627A>G ENST00000445430.1 + 0 1824 CCTCAGGTGCAGATTGATGAG 0.473000 5 23 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13649593 13649593 + Silent SNP C C T TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:13649593C>T ENST00000404922.3 + 3 1457 c.1338C>T c.(1336-1338)tgC>tgT p.C446C FBLN2_ENST00000295760.7_Silent_p.C446C|FBLN2_ENST00000492059.1_Silent_p.C446C|FBLN2_ENST00000535798.1_Silent_p.C472C NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 446 Anaphylatoxin-like 1. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGACTTGCTGCGCAGCCGGAC 0.577000 3 3 0 0 1 0 0 MCHR1 2847 broad.mit.edu 37 22 41077012 41077012 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr22:41077012G>A ENST00000249016.4 + 2 1045 c.349G>A c.(349-351)Ggc>Agc p.G117S MCHR1_ENST00000381433.2_Missense_Mutation_p.G117S|MCHR1_ENST00000498400.1_3'UTR NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 117 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 TTCGGTGTTCGGCACCATCTG 0.572000 26 33 0 0 1 0 0 CD3EAP 10849 broad.mit.edu 37 19 45911841 45911841 + Silent SNP G G A rs77680493 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:45911841G>A ENST00000309424.3 + 3 1103 c.615G>A c.(613-615)tcG>tcA p.S205S ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Silent_p.S207S NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 205 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) CTTTGGGGTCGCCAGAAATGG 0.562000 3 40 0 0 1 0 0 LAMTOR4 389541 broad.mit.edu 37 7 99746599 99746599 + Splice_Site SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr7:99746599G>A ENST00000441173.1 + 1 38 c.e1+1 LAMTOR4_ENST00000341942.5_Splice_Site late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 GACTGCGATGGTGAGTGAGGA 0.667000 26 101 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2786939 2786939 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr12:2786939G>A ENST00000399655.1 + 41 5262 c.4997G>A c.(4996-4998)cGa>cAa p.R1666Q CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1707Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1686Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1714Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1674Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1674Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1683Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1694Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1685Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1672Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1685Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1691Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1666Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1685Q 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 1714 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) CCTGAGATCCGACGGGCCATC 0.602000 3 26 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186915397 186915397 + Missense_Mutation SNP A A C TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:186915397A>C ENST00000312295.4 + 1 124 c.94A>C c.(94-96)Act>Cct p.T32P RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 32 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GCCTTCCCTCACTACTGACGA 0.527000 39 41 0 0 1 0 0 MRPL45P2 653479 broad.mit.edu 37 17 45569815 45569815 + RNA SNP A A G rs2610367 by1000genomes TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr17:45569815A>G ENST00000575291.1 - 0 21 TTGAGGTATGAGGGCTGCCAT 0.602000 4 86 0 0 1 0 0 PREP 5550 broad.mit.edu 37 6 105726276 105726276 + Missense_Mutation SNP C C G TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr6:105726276C>G ENST00000369110.3 - 15 2068 c.1876G>C c.(1876-1878)Gat>Cat p.D626H NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 626 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) tggatgtcatctgcttctggt 0.502000 14 35 0 0 1 0 0 TRAPPC1 58485 broad.mit.edu 37 17 7834411 7834411 + Missense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr17:7834411G>A ENST00000303731.4 - 3 342 c.227C>T c.(226-228)aCg>aTg p.T76M TRAPPC1_ENST00000540486.1_Missense_Mutation_p.T76M NM_021210.4 NP_067033.1 Q9Y5R8 TPPC1_HUMAN trafficking protein particle complex 1 76 ER to Golgi vesicle-mediated transport endoplasmic reticulum breast(1)|lung(2) 3 Prostate(122;0.173) CCCAGTGGGCGTCTCGTAGTA 0.532000 26 34 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44177097 44177097 + Nonsense_Mutation SNP G G A TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr4:44177097G>A ENST00000360029.3 - 2 1415 c.1132C>T c.(1132-1134)Cag>Tag p.Q378* NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 378 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 GCTGTTGCCTGCTGGGCACTG 0.507000 HNSCC(17;0.042) 67 70 0 0 1 0 0 GATA6 2627 broad.mit.edu 37 18 19761486 19761486 + Missense_Mutation SNP G G A rs151176879 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr18:19761486G>A ENST00000269216.3 + 4 1652 c.1375G>A c.(1375-1377)Gcc>Acc p.A459T GATA6_ENST00000581694.1_Missense_Mutation_p.A459T NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 459 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GCGCAGAAACGCCGAGGGTGA 0.473000 4 50 0 0 1 0 0 BRICD5 283870 broad.mit.edu 37 16 2259625 2259625 + Missense_Mutation SNP G G A rs9934277 byFrequency TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr16:2259625G>A ENST00000328540.3 - 5 1637 c.521C>T c.(520-522)cCc>cTc p.P174L BRICD5_ENST00000562360.1_Missense_Mutation_p.P174L NM_182563.3 NP_872369.2 BRICHOS domain containing 5 CGCCTGGGCGGGGTCCACTTC 0.682000 4 95 0 0 1 0 0 MRPL47 57129 broad.mit.edu 37 3 179311629 179311629 + Frame_Shift_Del DEL G G - TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr3:179311629delG ENST00000476781.1 - 5 486 c.457delC c.(457-459)tafs p.L153fs MRPL47_ENST00000259038.2_Frame_Shift_Del_p.L133fs|MRPL47_ENST00000392659.2_Frame_Shift_Del_p.L43fs NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 153 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) AGAAGCCTTAGGGCATCTTCT 0.398 48 62 --- --- --- --- RP11-434D9.2 0 broad.mit.edu 37 5 67151832 67151832 + RNA DEL C C - rs56979411 TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr5:67151832delC ENST00000514791.1 - 0 349 p.0?(1) ttttaaaattcaaaaaaaaaa 0.383 8 44 --- --- --- --- NRG2 9542 broad.mit.edu 37 5 139422565 139422567 + In_Frame_Del DEL GCT GCT - TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr5:139422565_139422567delGCT ENST00000541337.1 - 1 317_319 c.88_90delAGC c.(88-90)del p.S30del NRG2_ENST00000394770.1_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del|NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del|NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000361474.1_In_Frame_Del_p.S30del NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 30 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgctcctctcgctgctgctgctg 0.675 2 4 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242465 55242479 + In_Frame_Del DEL GGAATTAAGAGAAGC GGAATTAAGAGAAGC - rs121913438 TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr7:55242465_55242479delGGAATTAAGAGAAGC ENST00000275493.2 + 19 2412_2426 c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)aaa>aa p.KELREA745del EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 745 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG 0.479 E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 32 43 --- --- --- --- MRPS31P5 100887750 broad.mit.edu 37 13 52764065 52764065 + RNA DEL A A - TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr13:52764065delA ENST00000451298.1 - 0 1229 RP11-64P12.8_ENST00000606031.1_RNA AAGATGCATTAAAAAAAATGA 0.303 2 4 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 8 100 --- --- --- --- CELF5 60680 broad.mit.edu 37 19 3286004 3286006 + In_Frame_Del DEL GCA GCA - TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:3286004_3286006delGCA ENST00000541430.2 + 10 1128_1130 c.1092_1094delGCA c.(1090-1095)ctg>ct p.LQ364del CELF5_ENST00000292672.2_In_Frame_Del_p.LQ389del|CELF5_ENST00000588101.1_3'UTR NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 389 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 CGCCCCTCCTGCAGCAGCAGCAG 0.749 2 4 --- --- --- --- CTD-2620I22.1 0 broad.mit.edu 37 19 53470096 53470105 + RNA DEL TTTTTTTTTT TTTTTTTTTT - rs79276462 TCGA-97-8171-01A-11D-2284-08 TCGA-97-8171-10A-01D-2284-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa2c3620-7e82-4b12-b135-87986f0f2890 843a882c-c77b-4931-b48e-31307ca89b80 g.chr19:53470096_53470105delTTTTTTTTTT ENST00000600068.1 - 0 489 GCTTGACATCtttttttttttttttttttt 0.410 2 4 --- --- --- ---