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 COL6A3 1293 broad.mit.edu 37 2 238247748 238247748 + Missense_Mutation SNP A A T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr2:238247748A>T ENST00000295550.4 - 39 8929 c.8477T>A c.(8476-8478)tTt>tAt p.F2826Y COL6A3_ENST00000347401.3_Missense_Mutation_p.F2625Y|COL6A3_ENST00000346358.4_Missense_Mutation_p.F2626Y|COL6A3_ENST00000472056.1_Missense_Mutation_p.F2219Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.F2620Y|COL6A3_ENST00000353578.4_Missense_Mutation_p.F2620Y NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2826 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGACAAGTAAAAAGCATTTTC 0.343000 8 38 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55107798 55107798 + Missense_Mutation SNP G G A rs139338661 byFrequency TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr19:55107798G>A ENST00000251372.3 + 7 1285 c.1103G>A c.(1102-1104)cGt>cAt p.R368H LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 368 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCCCCCCTCCGTCTCAGATCA 0.577000 12 68 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476574 17476574 + Missense_Mutation SNP C C G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr19:17476574C>G ENST00000252590.4 - 3 761 c.700G>C c.(700-702)Gag>Cag p.E234Q NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 234 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGGTCCATCTCAAACTTGTCC 0.587000 5 67 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126395236 126395236 + Missense_Mutation SNP G G T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr10:126395236G>T ENST00000337318.3 - 2 258 c.47C>A c.(46-48)tCc>tAc p.S16Y FAM53B_ENST00000392754.3_Missense_Mutation_p.S16Y|FAM53B_ENST00000280780.6_Missense_Mutation_p.S16Y|RP11-464O2.2_ENST00000448422.2_RNA|RP11-12J10.3_ENST00000494792.1_3'UTR|RP11-464O2.2_ENST00000432699.1_RNA NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 16 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) ACATGCAATGGAGTCAGCTCC 0.577000 6 81 3.59834e-05 3.86292e-05 1 1 0 GNAS 2778 broad.mit.edu 37 20 57474035 57474035 + Silent SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr20:57474035C>T ENST00000371100.4 + 3 2733 c.2181C>T c.(2179-2181)agC>agT p.S727S GNAS_ENST00000306090.10_Intron|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000354359.7_Silent_p.S84S|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000603534.1_Silent_p.S25S|GNAS_ENST00000371081.1_Silent_p.S84S|GNAS_ENST00000371102.4_Intron|GNAS_ENST00000371095.3_Intron|GNAS_ENST00000371098.2_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000605439.1_Silent_p.S25S|GNAS_ENST00000371085.3_Silent_p.S84S|GNAS_ENST00000265620.7_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 84 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GGAGCAACAGCGATGGGTAGG 0.478000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 15 78 0 0 1 0 0 FGB 2244 broad.mit.edu 37 4 155489647 155489647 + Splice_Site SNP G G T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr4:155489647G>T ENST00000302068.4 + 5 895 c.e5+1 FGB_ENST00000509493.1_Splice_Site|FGB_ENST00000502545.1_Splice_Site NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GAAAATGGAGGTAAGCTTTCG 0.408000 8 83 0.0381472 0.0386771 1 1 0 EPRS 2058 broad.mit.edu 37 1 220192378 220192378 + Missense_Mutation SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr1:220192378C>T ENST00000366923.3 - 11 1662 c.1393G>A c.(1393-1395)Ggg>Agg p.G465R NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 465 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ACTGTCATCCCTCTTCTCAGT 0.393000 23 76 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102650054 102650054 + Missense_Mutation SNP A A G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr11:102650054A>G ENST00000279441.4 - 3 422 c.386T>C c.(385-387)gTt>gCt p.V129A NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 129 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) GGCAGAATCAACAGCATCTCT 0.393000 7 111 0 0 1 0 0 GORAB 92344 broad.mit.edu 37 1 170501349 170501349 + Silent SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr1:170501349C>T ENST00000367763.3 + 1 80 c.60C>T c.(58-60)tgC>tgT p.C20C GORAB_ENST00000367762.1_Silent_p.C20C|RP11-576I22.2_ENST00000456083.1_RNA NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 20 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TTTGGGGGTGCCGGTGGCCCG 0.597000 4 48 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58126185 58126185 + Missense_Mutation SNP G G A rs142474037 TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr11:58126185G>A ENST00000357377.3 - 1 357 c.358C>T c.(358-360)Cgc>Tgc p.R120C NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R120C(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCTGCGTAGCGGTCATAGGCC 0.473000 10 61 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16419598 16419598 + Missense_Mutation SNP C C A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr9:16419598C>A ENST00000380672.4 - 7 2746 c.2689G>T c.(2689-2691)Gat>Tat p.D897Y BNC2_ENST00000380667.2_Missense_Mutation_p.D830Y|BNC2_ENST00000545497.1_Missense_Mutation_p.D802Y NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 897 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CCCATGTCATCGAGTTCTTTG 0.542000 18 61 1.02788e-11 1.17243e-11 1 1 0 OR2J2 26707 broad.mit.edu 37 6 29141532 29141532 + Silent SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr6:29141532G>A ENST00000377167.2 + 1 222 c.120G>A c.(118-120)ctG>ctA p.L40L NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TGATGACACTGACAGGAAACC 0.423000 19 200 0 0 1 0 0 SUSD1 64420 broad.mit.edu 37 9 114886607 114886607 + Silent SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr9:114886607G>A ENST00000374270.3 - 6 988 c.816C>T c.(814-816)agC>agT p.S272S SUSD1_ENST00000374263.3_Silent_p.S272S|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Silent_p.S272S NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 272 Sushi 2. integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TTCCTCCAGGGCTCTCAAAGC 0.532000 37 82 0 0 1 0 0 IFNA5 3442 broad.mit.edu 37 9 21304862 21304862 + Missense_Mutation SNP T T C TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr9:21304862T>C ENST00000259555.4 - 1 450 c.394A>G c.(394-396)Act>Gct p.T132A NM_002169.2 NP_002160.1 P01569 IFNA5_HUMAN interferon, alpha 5 132 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATCAGAGGAGTGTCTTCCACT 0.443000 59 167 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62049506 62049506 + Missense_Mutation SNP T T G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr17:62049506T>G ENST00000578147.1 - 3 548 c.472A>C c.(472-474)Aag>Cag p.K158Q SCN4A_ENST00000435607.1_Missense_Mutation_p.K158Q P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 158 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCCACATTCTTGGACCAGGGA 0.552000 4 11 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45433179 45433179 + Missense_Mutation SNP C C G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr14:45433179C>G ENST00000361462.2 + 1 1738 c.1555C>G c.(1555-1557)Ctt>Gtt p.L519V KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.L519V|FAM179B_ENST00000361577.3_Missense_Mutation_p.L519V Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 519 binding p.L519V(1) endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 TGCCCCAGCTCTTGTAGATAG 0.478000 39 107 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16962292 16962292 + Missense_Mutation SNP A A G rs61754499 byFrequency TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr19:16962292A>G ENST00000379803.1 + 6 810 c.796A>G c.(796-798)Agc>Ggc p.S266G SIN3B_ENST00000596802.1_Missense_Mutation_p.S266G|SIN3B_ENST00000248054.5_Missense_Mutation_p.S266G NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 266 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CCCGGAGCACAGCAGGAAGCG 0.662000 4 52 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37364387 37364387 + Missense_Mutation SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr5:37364387C>T ENST00000231498.3 - 2 460 c.257G>A c.(256-258)aGa>aAa p.R86K NUP155_ENST00000381843.2_Missense_Mutation_p.R27K|NUP155_ENST00000513532.1_Missense_Mutation_p.R86K NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 86 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGAGGAACTCTTCGGATGGA 0.388000 9 54 0 0 1 0 0 CES2 8824 broad.mit.edu 37 16 66975426 66975426 + Silent SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr16:66975426C>T ENST00000317091.4 + 7 2109 c.1125C>T c.(1123-1125)ccC>ccT p.P375P CES2_ENST00000417689.1_Silent_p.P375P NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 311 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) AGATGATCCCCGGAGTGGTGG 0.567000 18 49 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22095662 22095662 + Missense_Mutation SNP G G T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chrX:22095662G>T ENST00000379374.4 + 5 1070 c.505G>T c.(505-507)Gtg>Ttg p.V169L PHEX_ENST00000537599.1_Missense_Mutation_p.V169L|PHEX_ENST00000535894.1_Missense_Mutation_p.V72L NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 169 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CCGCTGGCCCGTGCTTGAATC 0.473000 9 235 0.00448238 0.00467448 1 1 0 NUGGC 389643 broad.mit.edu 37 8 27898690 27898690 + Missense_Mutation SNP C C G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr8:27898690C>G ENST00000413272.2 - 13 1631 c.1489G>C c.(1489-1491)Gag>Cag p.E497Q NUGGC_ENST00000341513.6_Missense_Mutation_p.E497Q NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated TCAACCTTCTCTTCCGCAAAT 0.562000 2 4 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22157246 22157246 + Missense_Mutation SNP C C G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr19:22157246C>G ENST00000397126.4 - 4 738 c.590G>C c.(589-591)aGa>aCa p.R197T ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGAATTCTCTCTAGTATAAAT 0.358000 6 43 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380708 124380708 + Missense_Mutation SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr10:124380708G>A ENST00000338354.3 + 41 5139 c.5033G>A c.(5032-5034)tGc>tAc p.C1678Y DMBT1_ENST00000368956.2_Missense_Mutation_p.C1050Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.C1668Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.C1668Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.C1050Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.C1678Y Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1678 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) AATGTGGTCTGCAGGCAGCTG 0.627000 19 223 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15561403 15561403 + Silent SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr21:15561403G>A ENST00000344577.2 - 2 472 c.447C>T c.(445-447)aaC>aaT p.N149N LIPI_ENST00000536861.1_Silent_p.N128N NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 128 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CTTTTCTGGTGTTTTTAACTG 0.328000 8 23 0 0 1 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 4 32 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1023154 1023154 + Missense_Mutation SNP C C G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr12:1023154C>G ENST00000358495.3 - 11 1239 c.1101G>C c.(1099-1101)caG>caC p.Q367H RAD52_ENST00000430095.2_Missense_Mutation_p.Q367H|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.Q290H NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 367 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) GAGTCCTGTTCTGGGTCACCA 0.537000 Homologous recombination 20 48 0 0 1 0 0 THPO 7066 broad.mit.edu 37 3 184090419 184090419 + Missense_Mutation SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr3:184090419G>A ENST00000204615.7 - 6 1158 c.944C>T c.(943-945)aCc>aTc p.T315I THPO_ENST00000445696.2_Missense_Mutation_p.T311I|THPO_ENST00000421442.2_Silent_p.H276H|EIF2B5_ENST00000444495.1_Intron NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 315 Pro-rich. cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GACCACAGGGGTGGGCAAGGT 0.597000 11 88 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17353100 17353100 + Missense_Mutation SNP C C T rs142548093 TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr16:17353100C>T ENST00000261381.6 - 3 742 c.658G>A c.(658-660)Ggg>Agg p.G220R NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 220 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCTCTGTCCCCGGGAGGCAGC 0.582000 25 101 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208729 58208729 + Silent SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr13:58208729G>A ENST00000377918.3 + 1 2075 c.2049G>A c.(2047-2049)tcG>tcA p.S683S NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 683 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCATCCGCTCGGTGAGCGGAT 0.632000 14 111 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103410340 103410340 + Silent SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr14:103410340G>A ENST00000361246.2 - 30 4584 c.4296C>T c.(4294-4296)ctC>ctT p.L1432L NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1432 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CCTCGCTTTCGAGCTCCACAG 0.602000 8 48 0 0 1 0 0 MANBA 4126 broad.mit.edu 37 4 103553233 103553233 + Missense_Mutation SNP G G T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr4:103553233G>T ENST00000226578.4 - 17 2720 c.2621C>A c.(2620-2622)tCc>tAc p.S874Y MANBA_ENST00000505239.1_Missense_Mutation_p.S817Y NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 874 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) ATCTGTTAAGGAGGTCACATG 0.418000 4 46 0.00909568 0.0093519 1 1 0 OR4C15 81309 broad.mit.edu 37 11 55322397 55322397 + Silent SNP C C G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr11:55322397C>G ENST00000314644.2 + 1 615 c.615C>G c.(613-615)ggC>ggG p.G205G NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G205G(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GGACAGGGGGCCTCTTGCATT 0.468000 HNSCC(20;0.049) 4 69 0 0 1 0 0 HOXB7 3217 broad.mit.edu 37 17 46685369 46685369 + Silent SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr17:46685369C>T ENST00000239165.7 - 2 587 c.489G>A c.(487-489)acG>acA p.T163T HOXB7_ENST00000567101.1_5'UTR NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 163 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.T163T(2) NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 GCCGCCGCCGCGTCAGGTAGC 0.557000 17 51 0 0 1 0 0 CD274 29126 broad.mit.edu 37 9 5457194 5457194 + Silent SNP T T C TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr9:5457194T>C ENST00000381577.3 + 3 254 c.168T>C c.(166-168)taT>taC p.Y56Y CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Intron NM_014143.3 NP_054862.1 Q9NZQ7 PD1L1_HUMAN CD274 molecule 56 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation endomembrane system|integral to membrane receptor activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111) TAATTGTCTATTGGGAAATGG 0.423000 T CIITA """PMBL, Hodgkin Lymphona, """ 13 38 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78522539 78522539 + Missense_Mutation SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr12:78522539G>A ENST00000397909.2 + 18 4507 c.4334G>A c.(4333-4335)cGt>cAt p.R1445H NAV3_ENST00000228327.6_Missense_Mutation_p.R1445H|NAV3_ENST00000536525.2_Missense_Mutation_p.R1445H|NAV3_ENST00000266692.7_Missense_Mutation_p.R1268H Q8IVL0 NAV3_HUMAN neuron navigator 3 1445 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GAGTGGTTGCGTTCTCATTCT 0.493000 HNSCC(70;0.22) 9 81 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37619511 37619511 + Missense_Mutation SNP C C G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr13:37619511C>G ENST00000360252.4 - 6 415 c.168G>C c.(166-168)caG>caC p.Q56H SUPT20H_ENST00000356185.3_Missense_Mutation_p.Q56H|SUPT20H_ENST00000542180.1_Splice_Site|SUPT20H_ENST00000350612.6_Splice_Site|SUPT20H_ENST00000464744.1_Missense_Mutation_p.Q56H|SUPT20H_ENST00000470359.2_Splice_Site|SUPT20H_ENST00000475892.1_Splice_Site NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) TTCTTAATTTCTGCTTTAAAA 0.338000 4 28 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323058 31323058 + Silent SNP T T C rs146257998 byFrequency TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr5:31323058T>C ENST00000265071.2 + 12 2281 c.2016T>C c.(2014-2016)ttT>ttC p.F672F NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 672 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CCCAGGCTTTTGATATCGGCA 0.488000 4 73 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286804 57286804 + Missense_Mutation SNP G G A rs149106731 TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr19:57286804G>A ENST00000391708.3 - 12 1378 c.836C>T c.(835-837)cCg>cTg p.P279L ZIM2_ENST00000221722.5_Missense_Mutation_p.P279L|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.P279L|ZIM2_ENST00000601070.1_Missense_Mutation_p.P279L|ZIM2_ENST00000599935.1_Missense_Mutation_p.P279L|AC006115.3_ENST00000595954.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GCTTCTTTCCGGAGTGAGGGT 0.458000 28 62 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42858801 42858801 + Missense_Mutation SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr19:42858801C>T ENST00000334370.4 + 22 4507 c.3872C>T c.(3871-3873)tCg>tTg p.S1291L MEGF8_ENST00000251268.6_Missense_Mutation_p.S1358L NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1358 CUB 2. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GTTGTCCAGTCGGACCGCAGC 0.607000 19 174 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48584693 48584693 + Silent SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr4:48584693G>A ENST00000358350.4 - 20 2411 c.1807C>T c.(1807-1809)Cta>Tta p.L603L FRYL_ENST00000503238.1_Silent_p.L603L|FRYL_ENST00000507711.1_Silent_p.L603L|FRYL_ENST00000506685.1_Silent_p.L309L|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.L603L NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TCAAGCATTAGTGCCTGCAGA 0.398000 21 61 0 0 1 0 0 RIT1 6016 broad.mit.edu 37 1 155870346 155870346 + Missense_Mutation SNP C C A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr1:155870346C>A ENST00000368323.3 - 6 697 c.493G>T c.(493-495)Gct>Tct p.A165S RIT1_ENST00000368322.3_Missense_Mutation_p.A182S|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000539040.1_Missense_Mutation_p.A129S NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 165 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) CGGTATGCAGCAGATGTCTCA 0.433000 9 160 2.74318e-10 3.0808e-10 1 1 0 AFAP1L2 84632 broad.mit.edu 37 10 116056777 116056777 + Missense_Mutation SNP A A G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr10:116056777A>G ENST00000369271.3 - 18 2678 c.2378T>C c.(2377-2379)gTc>gCc p.V793A AFAP1L2_ENST00000304129.4_Missense_Mutation_p.V797A|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.V850A|AFAP1L2_ENST00000491814.1_5'UTR NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 797 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TGTGACCACGACCGAGAGAGG 0.572000 10 61 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144086413 144086413 + Missense_Mutation SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr6:144086413C>T ENST00000427704.2 + 6 807 c.677C>T c.(676-678)tCa>tTa p.S226L PHACTR2_ENST00000367582.3_Missense_Mutation_p.S157L|PHACTR2_ENST00000440869.2_Missense_Mutation_p.S237L|PHACTR2_ENST00000305766.6_Missense_Mutation_p.S146L|PHACTR2_ENST00000367584.4_Missense_Mutation_p.S214L NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 226 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TCCTCTCATTCAAAAAAAACA 0.398000 6 99 0 0 1 0 0 IFNA10 3446 broad.mit.edu 37 9 21206993 21206993 + Missense_Mutation SNP C C G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr9:21206993C>G ENST00000357374.2 - 1 149 c.104G>C c.(103-105)aGg>aCg p.R35T NM_002171.1 NP_002162.1 P01566 IFN10_HUMAN interferon, alpha 10 35 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) CAAGGCCCTCCTATTACCCAG 0.517000 24 102 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44030317 44030317 + Missense_Mutation SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr18:44030317G>A ENST00000269439.7 + 5 725 c.674G>A c.(673-675)gGa>gAa p.G225E RNF165_ENST00000543885.1_Missense_Mutation_p.G33E NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 225 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) GCTCTCCAGGGACTAAATCCC 0.502000 4 39 0 0 1 0 0 VPS9D1 9605 broad.mit.edu 37 16 89776218 89776218 + Missense_Mutation SNP G G C TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr16:89776218G>C ENST00000561976.1 - 10 1522 c.1145C>G c.(1144-1146)tCc>tGc p.S382C VPS9D1_ENST00000389386.3_Missense_Mutation_p.S452C VPS9 domain containing 1 CCACAGCGGGGAGAAAAAGGG 0.622000 4 54 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100912444 100912444 + Missense_Mutation SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chrX:100912444C>T ENST00000328766.5 - 5 584 c.131G>A c.(130-132)cGg>cAg p.R44Q ARMCX2_ENST00000356824.4_Missense_Mutation_p.R44Q|ARMCX2_ENST00000330154.2_Missense_Mutation_p.R44Q|ARMCX2_ENST00000467416.1_5'UTR NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 44 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 agccacagcccGGTTTTTGGG 0.592000 13 42 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45452190 45452190 + Silent SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr17:45452190G>A ENST00000331493.2 + 12 1641 c.1230G>A c.(1228-1230)ttG>ttA p.L410L EFCAB13_ENST00000517484.1_Silent_p.L314L NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 CACAAAGCTTGAAGAGTAGTA 0.368000 5 42 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60911825 60911825 + Missense_Mutation SNP C C A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr20:60911825C>A ENST00000252999.3 - 17 2248 c.2182G>T c.(2182-2184)Gcc>Tcc p.A728S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 728 Laminin EGF-like 9. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCAGACCGGCAGGGTGGCAA 0.627000 8 30 1.12685e-05 1.22776e-05 1 1 0 ASCC1 51008 broad.mit.edu 37 10 73912659 73912659 + Silent SNP G G A rs138245920 byFrequency TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr10:73912659G>A ENST00000342444.4 - 8 899 c.798C>T c.(796-798)taC>taT p.Y266Y ASCC1_ENST00000394919.1_Silent_p.Y238Y|ASCC1_ENST00000317126.4_Silent_p.Y238Y|ASCC1_ENST00000394915.3_Silent_p.Y266Y|ASCC1_ENST00000545550.1_Silent_p.Y260Y|ASCC1_ENST00000317168.6_Silent_p.Y238Y NM_001198799.2 NP_001185728.1 Q8N9N2 ASCC1_HUMAN activating signal cointegrator 1 complex subunit 1 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex RNA binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 7 GGACTTTGGCGTAAAGAACAT 0.408000 3 38 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274518 39274518 + Missense_Mutation SNP C C T rs9897031 by1000genomes TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr17:39274518C>T ENST00000391413.2 - 1 88 c.50G>A c.(49-51)cGa>cAa p.R17Q NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 17 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGAGGTCTCGGCCACAGCC 0.592000 3 21 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15134073 15134073 + Missense_Mutation SNP C C G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr11:15134073C>G ENST00000379554.3 + 1 104 c.58C>G c.(58-60)Cta>Gta p.L20V NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 20 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TGGCTGGGGTCTATGGGGAGT 0.597000 7 14 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151277195 151277195 + Silent SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr6:151277195C>T ENST00000367321.3 + 17 2065 c.1791C>T c.(1789-1791)ggC>ggT p.G597G NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 597 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) CAGAGAAGGGCCATTACCGGC 0.463000 6 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498611 179498611 + Silent SNP C C T TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr2:179498611C>T ENST00000589042.1 - 231 42839 c.42615G>A c.(42613-42615)ttG>ttA p.L14205L TTN_ENST00000460472.2_Silent_p.L5140L|TTN_ENST00000591111.1_Silent_p.L12564L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L5265L|TTN_ENST00000342175.6_Silent_p.L5332L|TTN_ENST00000342992.6_Silent_p.L11637L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12564 Fibronectin type-III 2. 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) ATATATCATCCAATGTCACTT 0.408000 14 184 0 0 1 0 0 SWI5 375757 broad.mit.edu 37 9 131038503 131038503 + Missense_Mutation SNP G G C TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr9:131038503G>C ENST00000320188.4 + 1 79 c.79G>C c.(79-81)Gag>Cag p.E27Q NM_001040011.1 NP_001035100.1 Q1ZZU3 SWI5_HUMAN SWI5 recombination repair homolog (yeast) 27 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding CCCACCTCGGGAGAGGGGCGG 0.682000 5 40 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100374015 100374015 + Missense_Mutation SNP A A G TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr14:100374015A>G ENST00000262233.6 + 10 1188 c.1049A>G c.(1048-1050)gAc>gGc p.D350G EML1_ENST00000334192.4_Missense_Mutation_p.D369G|EML1_ENST00000327921.9_Missense_Mutation_p.D338G NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 350 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) GACTCCAACGACCATGTGCTC 0.418000 11 38 0 0 1 0 0 ABI3 51225 broad.mit.edu 37 17 47299967 47299967 + Missense_Mutation SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr17:47299967G>A ENST00000225941.1 + 8 1489 c.991G>A c.(991-993)Gag>Aag p.E331K ABI3_ENST00000419580.2_Missense_Mutation_p.E325K NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 331 SH3. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CTCCTTCTCTGAGGGCACTGT 0.577000 HNSCC(55;0.14) 5 36 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176960 140176960 + Missense_Mutation SNP C C A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr5:140176960C>A ENST00000378132.1 + 1 2517 c.2411C>A c.(2410-2412)gCc>gAc p.A804D PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_031495.1 NP_113683.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTTTCTTGCCAATTCTAAA 0.343000 7 34 0.00198382 0.00209882 1 1 0 FAM69C 125704 broad.mit.edu 37 18 72109265 72109265 + Silent SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr18:72109265G>A ENST00000343998.6 - 3 971 c.963C>T c.(961-963)tgC>tgT p.C321C FAM69C_ENST00000400291.2_Silent_p.C22C NM_001044369.2 NP_001037834.2 Q0P6D2 FA69C_HUMAN family with sequence similarity 69, member C 321 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(2)|ovary(2) 5 CAAAGAAATTGCAGTCTTCAT 0.448000 6 47 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9496270 9496270 + Missense_Mutation SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr20:9496270G>A ENST00000246070.2 + 2 727 c.235G>A c.(235-237)Gat>Aat p.D79N LAMP5_ENST00000427562.2_Missense_Mutation_p.D79N NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 79 integral to membrane CAACTACGTAGATGTAAGGAA 0.527000 14 54 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185984321 185984321 + Missense_Mutation SNP C C A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr1:185984321C>A ENST00000271588.4 + 31 4890 c.4661C>A c.(4660-4662)aCc>aAc p.T1554N HMCN1_ENST00000367492.2_Missense_Mutation_p.T1554N NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1554 Ig-like C2-type 13. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGAAATGTCACCACAGACATA 0.388000 9 44 7.48243e-07 8.27602e-07 1 1 0 TRDV1 28518 broad.mit.edu 37 14 22564882 22564882 + RNA SNP T T A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr14:22564882T>A ENST00000390452.2 + 0 351 AGTACTTTTGTGCTCTTGGGG 0.433000 3 33 0 0 1 0 0 LOC100129620 100129620 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 3 4 --- --- --- --- MET 4233 broad.mit.edu 37 7 116412043 116412043 + Splice_Site DEL G G - TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr7:116412043delG ENST00000397752.3 + 14 3228 c.3028_splice c.e14+1 p.D1010_splice MET_ENST00000318493.6_Splice_Site_p.D1028_splice NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1010 Breakpoint for translocation to form TPR- MET oncogene. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)|p.?(1) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTTTCCAGAAGGTATATTTCA 0.348 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 13 22 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48919276 48919277 + Frame_Shift_Del DEL TA TA - TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr13:48919276_48919277delTA ENST00000267163.4 + 4 579_580 c.441_442delTA c.(439-444)gctgfs p.AM147fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 147 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.M148fs*9(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTGATAATGCTATGTCAAGACT 0.287 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 11 34 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20262849 20262850 + RNA INS - - T rs142097873 TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chr19:20262849_20262850insT ENST00000593655.1 - 0 337 CTC-260E6.6_ENST00000586657.1_RNA TTTCttttttcttttttttttt 0.470 3 5 --- --- --- --- MECP2 4204 broad.mit.edu 37 X 153363100 153363102 + In_Frame_Del DEL GCG GCG - TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx db6f1e76-c6ac-4651-9b36-f74ef6a7faca 9eede9a8-25a8-435e-b25a-8a4eb7d3aa81 g.chrX:153363100_153363102delGCG ENST00000453960.2 - 1 75_77 c.21_23delCGC c.(19-24)gcg>gc p.AA7del MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR NM_001110792.1 NP_001104262.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 0 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCGCTCGGCgcggcggcggcgg 0.778 2 4 --- --- --- ---