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 RPRD1A 55197 broad.mit.edu 37 18 33647274 33647274 + Missense_Mutation SNP G G C TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr18:33647274G>C ENST00000399022.4 - 1 265 c.94C>G c.(94-96)Cac>Gac p.H32D RPRD1A_ENST00000319040.6_Missense_Mutation_p.H32D|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.H32D NM_018170.3 NP_060640.2 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 1A 32 CID. NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2) 12 TTACGGTGGTGAATGAGCCAC 0.627000 4 10 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475670 75475670 + RNA SNP A A C rs7430363 by1000genomes TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr3:75475670A>C ENST00000459803.1 - 0 859 NR_024241.1 ACCTCAGGAGACTGCTGGTGC 0.627000 5 50 0 0 1 0 0 RNF2 6045 broad.mit.edu 37 1 185062373 185062373 + Missense_Mutation SNP C C A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr1:185062373C>A ENST00000367510.3 + 4 717 c.429C>A c.(427-429)agC>agA p.S143R RNF2_ENST00000367509.4_Intron NM_007212.3 NP_009143.1 Q99496 RING2_HUMAN ring finger protein 2 143 Interaction with HIP2. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2) 14 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) TCAGTCACAGCATTGAGGAAG 0.393000 3 49 0.115264 0.115264 1 1 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 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 CGAGGAAGATCAGCCCCAGCA 0.562000 2 11 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6588368 6588368 + Missense_Mutation SNP A A C TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr11:6588368A>C ENST00000254579.6 + 36 12193 c.11629A>C c.(11629-11631)Agc>Cgc p.S3877R DNHD1_ENST00000527990.2_Missense_Mutation_p.S3877R NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 3877 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TTTCTGTATGAGCCCAGAGAA 0.537000 8 79 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102307352 102307352 + Missense_Mutation SNP G G A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr6:102307352G>A ENST00000369138.1 + 10 1998 c.1508G>A c.(1507-1509)cGt>cAt p.R503H GRIK2_ENST00000413795.1_Missense_Mutation_p.R503H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R454H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R503H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R503H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R503H NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 503 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GGAATGGTTCGTGAACTAATT 0.353000 7 49 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 4 35 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72090087 72090087 + Silent SNP G G A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr16:72090087G>A ENST00000355906.5 + 2 91 c.33G>A c.(31-33)ctG>ctA p.L11L HP_ENST00000570083.1_Silent_p.L11L|HP_ENST00000398131.2_Silent_p.L11L|HP_ENST00000569639.1_Silent_p.L11L|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Silent_p.L11L|HP_ENST00000565574.1_Silent_p.L11L NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 11 cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) TTGCCCTCCTGCTCTGGGGAC 0.547000 24 37 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40076926 40076926 + Silent SNP C C T TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr12:40076926C>T ENST00000324616.5 + 8 1354 c.1200C>T c.(1198-1200)agC>agT p.S400S C12orf40_ENST00000405531.3_Silent_p.S400S|C12orf40_ENST00000398716.1_Silent_p.S323S NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 400 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 ACTACCCAAGCAGCTCTGAAA 0.294000 19 25 0 0 1 0 0 NUP133 55746 broad.mit.edu 37 1 229623237 229623237 + Missense_Mutation SNP C C T TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr1:229623237C>T ENST00000261396.3 - 10 1409 c.1318G>A c.(1318-1320)Gag>Aag p.E440K NUP133_ENST00000537506.1_Missense_Mutation_p.E424K|NUP133_ENST00000366679.1_Missense_Mutation_p.E440K NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 440 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) ACAATTTTCTCCTGGGGAAGA 0.413000 36 50 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51994090 51994090 + Missense_Mutation SNP A A G TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr3:51994090A>G ENST00000395014.2 - 2 399 c.400T>C c.(400-402)Ttt>Ctt p.F134L PCBP4_ENST00000461554.1_Intron|PCBP4_ENST00000395013.3_Intron|PCBP4_ENST00000484633.1_Intron|PCBP4_ENST00000355852.2_Intron|PCBP4_ENST00000322099.7_Intron|PCBP4_ENST00000428823.2_Intron|PCBP4_ENST00000471622.1_Intron P57723 PCBP4_HUMAN poly(rC) binding protein 4 128 KH 2. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AACCCAGAAAAGGGCTGCCCA 0.607000 3 52 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45972977 45972977 + Missense_Mutation SNP G G A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr22:45972977G>A ENST00000348697.2 + 19 2108 c.1961G>A c.(1960-1962)gGc>gAc p.G654D FBLN1_ENST00000327858.6_Missense_Mutation_p.G654D P23142 FBLN1_HUMAN fibulin 1 654 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TACATGGACGGCATGACCGTG 0.582000 3 33 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89577214 89577214 + Missense_Mutation SNP A A T rs2972040 by1000genomes TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr4:89577214A>T ENST00000407637.1 + 9 1263 c.1097A>T c.(1096-1098)aAg>aTg p.K366M HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TGGAATTTAAAGGTATTTTAA 0.388000 3 26 0 0 1 0 0 MRPL16 54948 broad.mit.edu 37 11 59573896 59573896 + Missense_Mutation SNP C C T rs117253311 by1000genomes TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr11:59573896C>T ENST00000300151.4 - 4 893 c.680G>A c.(679-681)cGg>cAg p.R227Q NM_017840.3 NP_060310.1 Q9NX20 RM16_HUMAN mitochondrial ribosomal protein L16 227 rRNA binding central_nervous_system(1)|endometrium(1)|liver(1)|lung(8) 11 CAGTACTTTCCGTATGCCCAG 0.463000 5 143 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64973686 64973686 + Silent SNP G G T TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr10:64973686G>T ENST00000399262.2 - 8 2459 c.2241C>A c.(2239-2241)acC>acA p.T747T JMJD1C_ENST00000542921.1_Silent_p.T565T|JMJD1C_ENST00000402544.1_Silent_p.T528T|JMJD1C_ENST00000399251.1_Silent_p.T528T NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 747 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) GATTTAAACAGGTTCTATGAG 0.438000 27 39 3.99451e-17 4.4042e-17 1 1 0 IL18RAP 8807 broad.mit.edu 37 2 103059671 103059671 + Missense_Mutation SNP A A C TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr2:103059671A>C ENST00000264260.2 + 8 1397 c.808A>C c.(808-810)Act>Cct p.T270P IL18RAP_ENST00000409369.1_Missense_Mutation_p.T128P NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 270 Ig-like C2-type 2. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AAAGCCTTTAACTATTAGCTG 0.438000 16 48 0 0 1 0 0 PDE12 201626 broad.mit.edu 37 3 57543196 57543196 + Missense_Mutation SNP G G A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr3:57543196G>A ENST00000311180.8 + 1 1193 c.1090G>A c.(1090-1092)Gcc>Acc p.A364T PDE12_ENST00000487257.1_Missense_Mutation_p.A364T NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 364 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CTTGGTACCCGCCCTAGAGGC 0.557000 3 43 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924423 70924423 + Silent SNP C C A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr14:70924423C>A ENST00000603540.1 + 2 465 c.207C>A c.(205-207)ggC>ggA p.G69G RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.G69G NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 69 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGTTTGGGGGCCAGAAACACG 0.527000 17 152 7.01153e-11 7.5374e-11 1 1 0 PMS2P4 0 broad.mit.edu 37 7 66764392 66764392 + RNA SNP T T C rs75182069 by1000genomes TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr7:66764392T>C ENST00000414507.1 - 0 63 ATAGGTTTGATGGCCTTAGCA 0.418000 9 230 0 0 1 0 0 HTR5A 3361 broad.mit.edu 37 7 154876155 154876155 + Missense_Mutation SNP C C A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr7:154876155C>A ENST00000287907.2 + 2 1608 c.1032C>A c.(1030-1032)aaC>aaA p.N344K HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 344 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TCAACAAGAACTACAACAGCG 0.468000 6 148 0.00116845 0.00122544 1 1 0 WARS 7453 broad.mit.edu 37 14 100808866 100808866 + Missense_Mutation SNP C C A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr14:100808866C>A ENST00000355338.2 - 9 1600 c.982G>T c.(982-984)Ggc>Tgc p.G328C WARS_ENST00000557135.1_Missense_Mutation_p.G328C|WARS_ENST00000392882.2_Missense_Mutation_p.G328C|WARS_ENST00000358655.4_Missense_Mutation_p.G287C|WARS_ENST00000344102.5_Missense_Mutation_p.G287C|WARS_ENST00000556645.1_Missense_Mutation_p.G287C|RP11-638I2.8_ENST00000557226.1_RNA NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 328 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TTAGGATAGCCGATCCTGGGG 0.582000 3 24 0.115264 0.115264 1 1 0 GPR98 84059 broad.mit.edu 37 5 89923208 89923208 + Missense_Mutation SNP C C T TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr5:89923208C>T ENST00000405460.2 + 7 949 c.853C>T c.(853-855)Cgt>Tgt p.R285C NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 285 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.R285C(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCAGTAGTTCGTGGAAAGGA 0.398000 5 96 0 0 1 0 0 RP11-178C3.2 0 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 3 8 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2283533 2283533 + Missense_Mutation SNP G G A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr16:2283533G>A ENST00000301727.4 + 8 1199 c.1151G>A c.(1150-1152)cGc>cAc p.R384H E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.R384H NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 384 Mediates interaction with CDKN2A. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GTCCTTGAGCGCGCTGCTGGG 0.706000 6 7 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15061128 15061128 + Missense_Mutation SNP C C T TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr19:15061128C>T ENST00000430939.2 - 9 1511 c.1382G>A c.(1381-1383)cGg>cAg p.R461Q SLC1A6_ENST00000221742.3_Missense_Mutation_p.R525Q|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R447Q P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 525 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) CTCCAGCTCCCGCTGAGACAA 0.612000 20 42 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43056987 43056987 + Missense_Mutation SNP A A T TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr20:43056987A>T ENST00000316099.3 + 9 1231 c.1142A>T c.(1141-1143)gAt>gTt p.D381V HNF4A_ENST00000457232.1_Missense_Mutation_p.D359V|HNF4A_ENST00000415691.1_Missense_Mutation_p.D381V NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 381 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCCCCCAGCGATGCACCCCAT 0.597000 10 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612467 179612467 + Missense_Mutation SNP A A G TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr2:179612467A>G ENST00000360870.5 - 46 14882 c.14660T>C c.(14659-14661)aTt>aCt p.I4887T TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1010 Ig-like 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAATTTAGGAATATTTTGAGA 0.378000 10 33 0 0 1 0 0 XRCC5 7520 broad.mit.edu 37 2 216977742 216977742 + Missense_Mutation SNP G G A TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr2:216977742G>A ENST00000392133.3 + 4 486 c.25G>A c.(25-27)Gct>Act p.A9T XRCC5_ENST00000392132.2_Missense_Mutation_p.A9T P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 9 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) TTTCCAGGCAGCTGTTGTGCT 0.398000 Non-homologous end-joining 34 60 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 8 16 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110410703 110410703 + Frame_Shift_Del DEL T T - TCGA-EL-A3CS-01A-21D-A19J-08 TCGA-EL-A3CS-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 422b8ca4-c6e6-4287-9ed7-09fc4215df05 883ac7a6-a2bb-4e50-b199-2fe468fd3c60 g.chr8:110410703delT ENST00000378402.5 + 12 1042 c.938delT c.(937-939)atfs p.I313fs NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 313 IPT/TIG 3. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCTTGTGATATTTTGAATGTC 0.368 HNSCC(38;0.096) 2 4 --- --- --- ---