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 SPOCD1 90853 broad.mit.edu 37 1 32259746 32259746 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:32259746G>A ENST00000360482.2 - 11 2491 c.2362C>T c.(2362-2364)Ccc>Tcc p.P788S SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000373648.2_3'UTR NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 788 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TGGCAGTTGGGGTCTAAGAAG 0.637 17 36 --- --- --- --- C1orf177 163747 broad.mit.edu 37 1 55273356 55273356 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:55273356G>A ENST00000358193.3 + 3 404 c.350G>A c.(349-351)cGg>cAg p.R117Q C1orf177_ENST00000371273.3_Missense_Mutation_p.R117Q NM_152607.2 NP_689820 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 117 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 AAAGAGAAGCGGCTGAAGGTG 0.617 4 14 --- --- --- --- KCND3 3752 broad.mit.edu 37 1 112525243 112525243 + Nonsense_Mutation SNP T T A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:112525243T>A ENST00000369697.1 - 1 175 c.106A>T c.(106-108)Aag>Tag p.K36* KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36*|KCND3_ENST00000315987.2_Nonsense_Mutation_p.K36* Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 36 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TCCTGCCGCTTGTTCTTGTCG 0.687 5 51 --- --- --- --- WDR3 10885 broad.mit.edu 37 1 118484412 118484412 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:118484412A>G ENST00000349139.5 + 9 978 c.931A>G c.(931-933)Aaa>Gaa p.K311E NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TATCCTTTCCAAAAAGGAAAT 0.323 11 26 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145414854 145414854 + Missense_Mutation SNP C C A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:145414854C>A ENST00000336751.5 + 2 311 c.73C>A c.(73-75)Ctc>Atc p.L25I HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 25 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CACTCTCACTCTCCTGCTGCT 0.602 4 74 --- --- --- --- C1orf51 148523 broad.mit.edu 37 1 150259073 150259073 + Missense_Mutation SNP G G A rs147269137 TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:150259073G>A ENST00000290363.5 + 5 1314 c.865G>A c.(865-867)Ggc>Agc p.G289S C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S|C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S NM_144697.2 NP_653298.1 Q8N365 CA051_HUMAN chromosome 1 open reading frame 51 289 endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CACTGGAACCGGCATTGGCGT 0.552 5 156 --- --- --- --- PYHIN1 149628 broad.mit.edu 37 1 158943542 158943542 + Missense_Mutation SNP C C A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:158943542C>A ENST00000368140.1 + 8 1710 c.1465C>A c.(1465-1467)Cca>Aca p.P489T PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392252.3_Intron NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 489 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CAACCGCCATCCAGCAGTTCC 0.448 16 90 --- --- --- --- FCGR2B 2213 broad.mit.edu 37 1 161642793 161642793 + Silent SNP G G T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:161642793G>T ENST00000367962.4 + 4 547 c.420G>T c.(418-420)ctG>ctT p.L140L FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000358671.5_Silent_p.L140L|FCGR2B_ENST00000428605.2_Silent_p.L140L|FCGR2B_ENST00000367960.5_Silent_p.L133L|FCGR2B_ENST00000403078.3_Silent_p.L140L|RP11-25K21.1_ENST00000453111.1_RNA P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 140 Ig-like C2-type 2. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCCTCACCTGGAGTTCCAGG 0.532 T ? ALL 4 35 --- --- --- --- ACTA1 58 broad.mit.edu 37 1 229568848 229568848 + Missense_Mutation SNP G G T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr1:229568848G>T ENST00000366684.3 - 2 117 c.15C>A c.(13-15)gaC>gaA p.D5E ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 5 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton p.D5D(1) endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) CGGTGGTCTCGTCTTCGTCGC 0.657 38 93 --- --- --- --- FAM179A 165186 broad.mit.edu 37 2 29247231 29247231 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:29247231C>T ENST00000379558.4 + 13 2195 c.1844C>T c.(1843-1845)gCg>gTg p.A615V FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 615 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTCACCTCGGCGGGTGTCTAG 0.617 4 14 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37455178 37455178 + Missense_Mutation SNP T T G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:37455178T>G ENST00000234170.5 - 2 1303 c.1158A>C c.(1156-1158)caA>caC p.Q386H NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 386 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TATTTACCACTTGCACAAGAA 0.413 39 95 --- --- --- --- ERMN 57471 broad.mit.edu 37 2 158181230 158181230 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:158181230C>T ENST00000410096.1 - 2 577 c.286G>A c.(286-288)Gat>Aat p.D96N ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000420719.2_Intron|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 96 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 AGAGAAAGATCTGTGATAGCC 0.303 9 32 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179558355 179558355 + Missense_Mutation SNP C C A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr2:179558355C>A ENST00000589042.1 - 119 31799 c.31575G>T c.(31573-31575)agG>agT p.R10525S TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10208S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10208 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGGTTCAACCCTTTTGGAAA 0.289 3 20 --- --- --- --- PRSS50 29122 broad.mit.edu 37 3 46757061 46757061 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr3:46757061G>A ENST00000460241.1 - 8 2104 c.434C>T c.(433-435)tCc>tTc p.S145F PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F Q9UI38 TSP50_HUMAN protease, serine, 50 145 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 CACCCACTGGGAGGCAATGAT 0.647 8 22 --- --- --- --- H2AFZ 3015 broad.mit.edu 37 4 100870896 100870896 + Splice_Site SNP G G C TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr4:100870896G>C ENST00000296417.5 - 2 222 c.5C>G c.(4-6)gCt>gGt p.A2G H2AFZ_ENST00000529158.1_5'UTR NM_002106.3 NP_002097.1 P0C0S5 H2AZ_HUMAN H2A histone family, member Z 2 Required for interaction with INCENP (By similarity). nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(3)|lung(1) 5 OV - Ovarian serous cystadenocarcinoma(123;2.32e-08) CTTACCGCCAGCCTGCGGCGC 0.662 34 61 --- --- --- --- ADCY2 108 broad.mit.edu 37 5 7698397 7698397 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:7698397G>A ENST00000338316.4 + 7 1108 c.1019G>A c.(1018-1020)tGc>tAc p.C340Y ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 340 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTAGGAGACTGCTACTACTGT 0.393 28 94 --- --- --- --- RGMB 285704 broad.mit.edu 37 5 98115452 98115452 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:98115452A>G ENST00000308234.7 + 4 830 c.428A>G c.(427-429)aAc>aGc p.N143S RGMB_ENST00000513185.1_Missense_Mutation_p.N102S|RGMB_ENST00000504776.1_3'UTR NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 102 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) TGCCGTGGCAACCTGGTATAC 0.547 9 38 --- --- --- --- MEGF10 84466 broad.mit.edu 37 5 126791206 126791206 + Missense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:126791206G>A ENST00000274473.6 + 25 3406 c.3139G>A c.(3139-3141)Ggt>Agt p.G1047S MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1047 Necessary for formation of large intracellular vacuoles. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTCAGAGTGTGGTTATGTGGA 0.428 37 75 --- --- --- --- SLC23A1 9963 broad.mit.edu 37 5 138714919 138714919 + Silent SNP G G T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr5:138714919G>T ENST00000353963.3 - 9 1100 c.1062C>A c.(1060-1062)ccC>ccA p.P354P SLC23A1_ENST00000348729.3_Silent_p.P350P NM_152685.3 NP_689898 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 350 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) GTACTGGAGGGGGTGGTGCAC 0.607 33 60 --- --- --- --- ZBTB24 9841 broad.mit.edu 37 6 109802616 109802616 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr6:109802616C>T ENST00000230122.3 - 2 781 c.614G>A c.(613-615)gGt>gAt p.G205D NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) ATTCAGTACACCACTGTCTCC 0.413 56 161 --- --- --- --- AEBP1 165 broad.mit.edu 37 7 44153447 44153447 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr7:44153447C>T ENST00000223357.3 + 21 3369 c.3064C>T c.(3064-3066)Cgc>Tgc p.R1022C AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 1022 Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GCAGCAGCGACGCCTACAACA 0.682 19 62 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109701288 109701288 + Silent SNP C C G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr9:109701288C>G ENST00000277225.5 + 7 6616 c.6327C>G c.(6325-6327)gcC>gcG p.A2109A ZNF462_ENST00000542028.1_Silent_p.A66A|ZNF462_ENST00000441147.2_Silent_p.A1015A|ZNF462_ENST00000457913.1_Silent_p.A2169A Q96JM2 ZN462_HUMAN zinc finger protein 462 2109 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ACGGAAAAGCCCTGACCCTCC 0.557 84 183 --- --- --- --- FGFR2 2263 broad.mit.edu 37 10 123325040 123325040 + Silent SNP G G A rs55806379 TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr10:123325040G>A ENST00000358487.5 - 3 560 c.288C>T c.(286-288)ggC>ggT p.G96G FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 96 Ig-like C2-type 1. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TAGGCGTGGCGCCCTTTATCT 0.522 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 5 91 --- --- --- --- ASB8 140461 broad.mit.edu 37 12 48543215 48543215 + Silent SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr12:48543215G>A ENST00000317697.3 - 4 970 c.801C>T c.(799-801)ctC>ctT p.L267L ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Silent_p.L267L NM_024095.3 NP_077000.1 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box containing 8 267 SOCS box. intracellular signal transduction cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1) 11 CTGCATCGGGGAGATACTGGA 0.522 14 33 --- --- --- --- BCDIN3D 144233 broad.mit.edu 37 12 50236869 50236869 + Translation_Start_Site SNP A A C TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr12:50236869A>C ENST00000333924.4 - 1 43 c.2T>G c.(1-3)aTg>aGg p.M1R NM_181708.2 NP_859059.1 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 1 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 GGGCACCGCCATTAGCCTCAA 0.662 11 25 --- --- --- --- HOXC11 3227 broad.mit.edu 37 12 54369166 54369166 + Missense_Mutation SNP T T C TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr12:54369166T>C ENST00000546378.1 + 2 1000 c.884T>C c.(883-885)cTg>cCg p.L295P HOXC11_ENST00000243082.4_Silent_p.A296A O43248 HXC11_HUMAN homeobox C11 295 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 AGAGACCGGCTGCAGTATTTC 0.468 T NUP98 AML 12 38 --- --- --- --- IFT88 8100 broad.mit.edu 37 13 21219039 21219039 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr13:21219039A>G ENST00000382778.4 + 21 3036 c.1918A>G c.(1918-1920)Att>Gtt p.I640V IFT88_ENST00000351808.5_Missense_Mutation_p.I631V|IFT88_ENST00000537103.1_Missense_Mutation_p.I612V|IFT88_ENST00000319980.6_Missense_Mutation_p.I640V Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 640 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) AGCCTATTACATTGACACCCA 0.318 31 84 --- --- --- --- XPO4 64328 broad.mit.edu 37 13 21401283 21401283 + Nonsense_Mutation SNP G G A TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr13:21401283G>A ENST00000400602.2 - 7 798 c.763C>T c.(763-765)Caa>Taa p.Q255* XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q255* NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 255 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AGCACATTTTGCGAGGATTCA 0.393 19 44 --- --- --- --- METTL21C 196541 broad.mit.edu 37 13 103338687 103338687 + Missense_Mutation SNP A A T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr13:103338687A>T ENST00000267273.6 - 4 494 c.489T>A c.(487-489)caT>caA p.H163Q NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 163 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 CTTCAGGCAGATGTGCTGTAC 0.418 19 42 --- --- --- --- ZFYVE1 53349 broad.mit.edu 37 14 73464594 73464594 + Missense_Mutation SNP C C G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr14:73464594C>G ENST00000556143.1 - 3 1633 c.913G>C c.(913-915)Gat>Cat p.D305H ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H NM_001281735.1|NM_021260.2 NP_001268664.1|NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 305 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AAAGGGACATCCAGGCCACAG 0.542 17 24 --- --- --- --- LOC81691 81691 broad.mit.edu 37 16 20855295 20855295 + Nonsense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr16:20855295C>T ENST00000261377.6 + 16 1875 c.1666C>T c.(1666-1668)Cag>Tag p.Q556* AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*|AC004381.6_ENST00000348433.6_Intron|ERI2_ENST00000564349.1_Intron NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 AGAAGCTGCCCAGCTGGCCAT 0.483 22 70 --- --- --- --- KDM4B 23030 broad.mit.edu 37 19 5077467 5077467 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr19:5077467A>G ENST00000159111.4 + 8 984 c.766A>G c.(766-768)Atc>Gtc p.I256V KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V|KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V NM_015015.2 NP_055830 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 256 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GAAGTACGGGATCCCCTTCAG 0.642 4 150 --- --- --- --- ABHD8 79575 broad.mit.edu 37 19 17412032 17412032 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr19:17412032C>T ENST00000247706.3 - 2 633 c.394G>A c.(394-396)Gcc>Acc p.A132T MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 132 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 ctgccgGGGGCCAAGCGGCCA 0.726 13 19 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43433714 43433714 + RNA SNP C C G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr19:43433714C>G ENST00000406070.2 - 0 685 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CTGTTGGTTTCAGACAGCTGC 0.507 104 253 --- --- --- --- CCDC114 93233 broad.mit.edu 37 19 48801473 48801473 + Silent SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr19:48801473C>T ENST00000315396.7 - 11 1936 c.1254G>A c.(1252-1254)ctG>ctA p.L418L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 418 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GGAGCTCCACCAGCCGCTTCT 0.647 9 29 --- --- --- --- LRRN4 164312 broad.mit.edu 37 20 6031443 6031443 + Missense_Mutation SNP T T C TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr20:6031443T>C ENST00000378858.4 - 3 1066 c.842A>G c.(841-843)cAg>cGg p.Q281R NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 281 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CAGAAGGACCTGTAGATGTGG 0.453 34 55 --- --- --- --- TRMT2A 27037 broad.mit.edu 37 22 20104421 20104421 + Silent SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr22:20104421C>T ENST00000252136.7 - 1 397 c.9G>A c.(7-9)gaG>gaA p.E3E TRMT2A_ENST00000439169.2_Silent_p.E3E|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Silent_p.E3E|TRMT2A_ENST00000403707.3_Silent_p.E3E NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 3 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 TGTCGAGGTTCTCACTCATCG 0.657 3 3 --- --- --- --- MMP11 4320 broad.mit.edu 37 22 24124530 24124530 + Missense_Mutation SNP A A G TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr22:24124530A>G ENST00000215743.3 + 7 1245 c.1193A>G c.(1192-1194)aAc>aGc p.N398S AP000349.1_ENST00000598975.1_Silent_p.C228C NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 398 Hemopexin-like 3. collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) CCCGAGAAGAACAAGATCTAC 0.647 10 42 --- --- --- --- EQTN 54586 broad.mit.edu 37 9 27291028 27291030 + In_Frame_Del DEL ATT ATT - TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx da5750e6-fb1c-4bd9-9fc7-fa93504b0690 0892efc4-b6f5-47e3-befe-b685ebb7d359 g.chr9:27291028_27291030delATT ENST00000380032.3 - 5 491_493 c.408_410delAAT c.(406-411)acaatg>acg p.M137del EQTN_ENST00000537675.1_In_Frame_Del_p.M108del NM_020641.2 NP_065692.2 equatorin, sperm acrosome associated TTTAGCTAACATTGTCCAAAATG 0.335 13 22 --- --- --- ---