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 MYT1L 23040 broad.mit.edu 37 2 1893050 1893050 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1893050G>A ENST00000399161.2 - 16 3230 c.2483C>T c.(2482-2484)cCc>cTc p.P828L MYT1L_ENST00000428368.2_Missense_Mutation_p.P826L NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 828 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TATCCTCCGGGGTTTCATTTT 0.542000 14 43 0 0 0.00121646 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558349 113558349 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:113558349C>T ENST00000284601.3 - 1 771 c.703G>A c.(703-705)Gaa>Aaa p.E235K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 235 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GGCTCTTGTTCTTTCTTTTGA 0.333000 47 170 0 0 0.000781405 0 0 SI 6476 broad.mit.edu 37 3 164716332 164716332 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:164716332G>A ENST00000264382.3 - 38 4598 c.4536C>T c.(4534-4536)atC>atT p.I1512I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1512 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACTTACCAATGATTGATTTGT 0.393000 HNSCC(35;0.089) 38 45 0 0 0.00128727 0 0 MYT1L 23040 broad.mit.edu 37 2 1926499 1926499 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1926499C>T ENST00000399161.2 - 10 1789 c.1042G>A c.(1042-1044)Gag>Aag p.E348K MYT1L_ENST00000428368.2_Missense_Mutation_p.E348K NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 348 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGATTCCTCTCCTGCGGGTTG 0.572000 27 19 0 0 0.00106085 0 0 ANKRD52 283373 broad.mit.edu 37 12 56637082 56637082 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56637082G>A ENST00000267116.7 - 28 3196 c.3075C>T c.(3073-3075)gaC>gaT p.D1025D ANKRD52_ENST00000548241.1_5'UTR NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 1025 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GACTGACGGCGTCCTTGGGTG 0.632000 19 39 0 0 0.000375601 0 0 SNAP47 116841 broad.mit.edu 37 1 227935648 227935648 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:227935648C>T ENST00000366759.4 + 2 760 c.346C>T c.(346-348)Ctg>Ttg p.L116L SNAP47_ENST00000315781.5_Silent_p.L116L|SNAP47_ENST00000366760.1_Intron NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 116 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CATCACCATCCTGGAGAAGGG 0.532000 44 90 0 0 0.000781405 0 0 MXRA5 25878 broad.mit.edu 37 X 3241569 3241569 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:3241569G>A ENST00000217939.6 - 5 2311 c.2157C>T c.(2155-2157)gaC>gaT p.D719D NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 719 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ACACCTCTTGGTCCTTTGGAT 0.478000 35 1 0 0 0.00111076 0 0 FBN3 84467 broad.mit.edu 37 19 8154839 8154839 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:8154839G>A ENST00000600128.1 - 50 6603 c.6189C>T c.(6187-6189)gcC>gcT p.A2063A FBN3_ENST00000270509.2_Silent_p.A2063A|FBN3_ENST00000601739.1_Silent_p.A2063A Q75N90 FBN3_HUMAN fibrillin 3 2063 TB 8. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCTCCTGAAAGGCAGCTGGAC 0.637000 6 22 0 0 0.00116845 0 0 ZNF317 57693 broad.mit.edu 37 19 9271094 9271094 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9271094C>T ENST00000247956.6 + 7 1078 c.773C>T c.(772-774)gCc>gTc p.A258V ZNF317_ENST00000360385.3_Missense_Mutation_p.A226V NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TGCGGGAAAGCCTTCAACGAC 0.572000 17 52 0 0 0.000422831 0 0 SLC6A5 9152 broad.mit.edu 37 11 20648277 20648277 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:20648277C>T ENST00000525748.1 + 8 1557 c.1284C>T c.(1282-1284)ttC>ttT p.F428F NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 428 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CGGCCACGTTCCCGTATGTCG 0.577000 34 21 0 0 0.000953801 0 0 C11orf85 283129 broad.mit.edu 37 11 64722257 64722257 + Missense_Mutation SNP T T G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64722257T>G ENST00000530444.1 - 4 329 c.119A>C c.(118-120)aAt>aCt p.N40T C11orf85_ENST00000301896.5_Missense_Mutation_p.N40T|C11orf85_ENST00000536065.1_5'UTR|C11orf85_ENST00000432175.1_Missense_Mutation_p.N40T Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 40 breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 GACTTCCTTATTTTCTATCTC 0.403000 16 35 0 0 0.00074312 0 0 PDE6C 5146 broad.mit.edu 37 10 95380655 95380655 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:95380655C>T ENST00000371447.3 + 3 779 c.641C>T c.(640-642)tCc>tTc p.S214F NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 214 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TAGGTCTTTTCCAAATACCTC 0.408000 238 36 0 0 0.000781405 0 0 IGHE 3497 broad.mit.edu 37 14 106067917 106067917 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106067917C>T ENST00000390540.2 - 0 468 CATAGTTGTCCCGTTGAGGGA 0.612000 17 57 0 0 0.000422831 0 0 CALR3 125972 broad.mit.edu 37 19 16594862 16594862 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:16594862A>G ENST00000269881.3 - 5 619 c.557T>C c.(556-558)aTt>aCt p.I186T CALR3_ENST00000602234.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 186 N-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 CTGACCATCAATTTTCACATC 0.413000 25 16 0 0 0.00106085 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256963 24256963 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:24256963C>T ENST00000538205.1 + 11 1297 c.750C>T c.(748-750)tcC>tcT p.S250S ADAMDEC1_ENST00000256412.4_Silent_p.S329S|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.S250S NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 329 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CCTTGTGTTCCCCATCTTCGG 0.418000 20 59 0 0 0.00229938 0 0 PCLO 27445 broad.mit.edu 37 7 82579186 82579186 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82579186G>A ENST00000423517.2 - 6 11055 c.10718C>T c.(10717-10719)tCa>tTa p.S3573L PCLO_ENST00000333891.8_Missense_Mutation_p.S3573L|PCLO_ENST00000437081.1_Missense_Mutation_p.S293L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3504 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGTGTGTCTGAATCTGCTTC 0.453000 57 69 0 0 0.000781405 0 0 C15orf39 56905 broad.mit.edu 37 15 75500392 75500392 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:75500392C>A ENST00000360639.2 + 2 2323 c.2003C>A c.(2002-2004)cCg>cAg p.P668Q C15orf39_ENST00000394987.4_Missense_Mutation_p.P668Q|C15orf39_ENST00000567617.1_Missense_Mutation_p.P668Q Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 668 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 GCCGTGGTCCCGTCCACGCCC 0.607000 31 67 2.08457e-15 1.00301e-14 0.00209593 1 0 C7orf63 79846 broad.mit.edu 37 7 89891300 89891300 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:89891300C>T ENST00000389297.4 + 4 537 c.286C>T c.(286-288)Ctg>Ttg p.L96L C7orf63_ENST00000316089.8_Silent_p.L96L|C7orf63_ENST00000497910.1_Silent_p.L96L|C7orf63_ENST00000463311.1_3'UTR NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 96 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AATTCTGAATCTGTGTTCAGG 0.244000 22 87 0 0 0.000720815 0 0 OR2B3 442184 broad.mit.edu 37 6 29054742 29054742 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29054742G>A ENST00000377173.2 - 1 348 c.284C>T c.(283-285)gCt>gTt p.A95V NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CACACAGCCAGCATAGCTGAT 0.453000 47 61 0 0 0.000781405 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844923 18844923 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:18844923C>T ENST00000412938.1 + 0 3173 GCGTTCACGTCCATCTCGCTC 0.572000 22 38 0 0 0.00178596 0 0 GK2 2712 broad.mit.edu 37 4 80328367 80328367 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:80328367G>A ENST00000358842.3 - 1 1005 c.988C>T c.(988-990)Cgt>Tgt p.R330C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 330 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CTTAGCCAACGAATAACAGCA 0.428000 29 33 0 0 0.0024448 0 0 VHL 7428 broad.mit.edu 37 3 10191547 10191547 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:10191547C>T ENST00000256474.2 + 3 1380 c.540C>T c.(538-540)atC>atT p.I180I VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Silent_p.I139I NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 180 I -> V (in VHLD; type I). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.I180fs*22(2)|p.L178_V181del(1)|p.D179_I180del(1)|p.I180fs*21(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) GACTGGACATCGTCAGGTCGC 0.517000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 10 28 0 0 0.000442599 0 0 DOCK7 85440 broad.mit.edu 37 1 63018492 63018492 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:63018492G>A ENST00000251157.5 - 22 2710 c.2677C>T c.(2677-2679)Cgt>Tgt p.R893C DOCK7_ENST00000340370.5_Missense_Mutation_p.R893C NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 893 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 CTTCGAGAACGATTTAAATTA 0.443000 18 60 0 0 0.000566183 0 0 CA1 759 broad.mit.edu 37 8 86241982 86241982 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:86241982G>C ENST00000523953.1 - 8 1651 c.605C>G c.(604-606)cCt>cGt p.P202R CA1_ENST00000542576.1_Missense_Mutation_p.P202R|CA1_ENST00000432364.2_Missense_Mutation_p.P202R|CA1_ENST00000523022.1_Missense_Mutation_p.P202R|CA1_ENST00000431316.1_Missense_Mutation_p.P202R|CA1_ENST00000522389.1_Missense_Mutation_p.P68R|CA1_ENST00000256119.5_Missense_Mutation_p.P202R P00915 CAH1_HUMAN carbonic anhydrase I 202 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) ATAAAGAGGAGGATGAGTCAG 0.483000 4 8 0 0 0.000602214 0 0 PALD1 27143 broad.mit.edu 37 10 72298087 72298087 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:72298087G>A ENST00000263563.6 + 12 1643 c.1375G>A c.(1375-1377)Gag>Aag p.E459K NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 TGCCCACCCTGAGCTGTACCG 0.657000 21 5 0 0 0.000878237 0 0 NLRP7 199713 broad.mit.edu 37 19 55451819 55451819 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55451819C>T ENST00000446217.1 - 6 854 c.452G>A c.(451-453)tGg>tAg p.W151* NLRP7_ENST00000328092.5_Nonsense_Mutation_p.W123*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.W123*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.W123* Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 123 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGAATTTCTCCATCCTTCCTT 0.438000 393 151 0 0 0.000781405 0 0 AQR 9716 broad.mit.edu 37 15 35202380 35202380 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:35202380G>A ENST00000156471.5 - 17 1844 c.1619C>T c.(1618-1620)aCc>aTc p.T540I NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 540 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) GAGATTTATGGTAACATCTGC 0.438000 62 84 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9048013 9048013 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9048013C>T ENST00000397910.4 - 5 33821 c.33618G>A c.(33616-33618)ggG>ggA p.G11206G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11208 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGTCACCAGCCCTTGTACAG 0.478000 20 14 0 0 0.00152264 0 0 ZNF324 25799 broad.mit.edu 37 19 58983383 58983383 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58983383C>T ENST00000536459.2 + 4 2233 c.1524C>T c.(1522-1524)acC>acT p.T508T ZNF324_ENST00000535298.1_Silent_p.T285T|ZNF324_ENST00000196482.3_Silent_p.T508T O75467 Z324A_HUMAN zinc finger protein 324 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GCGAGAAGACCGTCCGGCGAT 0.677000 11 56 0 0 0.000978159 0 0 GPR133 283383 broad.mit.edu 37 12 131487747 131487747 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:131487747G>A ENST00000261654.5 + 10 1603 c.1044G>A c.(1042-1044)ctG>ctA p.L348L GPR133_ENST00000535015.1_Silent_p.L380L|GPR133_ENST00000376682.4_Silent_p.L34L NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 348 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCGTGGTACTGAGTCTCATCG 0.602000 52 117 0 0 0.000781405 0 0 ZP1 22917 broad.mit.edu 37 11 60635174 60635174 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:60635174G>A ENST00000278853.5 + 1 140 c.140G>A c.(139-141)gGa>gAa p.G47E NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 47 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GGGATCAAGGGAATGCAGCTG 0.682000 20 9 0 0 0.00188189 0 0 CCDC88C 440193 broad.mit.edu 37 14 91755607 91755607 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:91755607G>A ENST00000389857.6 - 25 4369 c.4283C>T c.(4282-4284)tCc>tTc p.S1428F NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1428 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GTCCACGGTGGATTTTAAGCG 0.572000 48 188 0 0 0.000781405 0 0 NLRP7 199713 broad.mit.edu 37 19 55451005 55451005 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55451005G>A ENST00000446217.1 - 6 1668 c.1266C>T c.(1264-1266)ttC>ttT p.F422F NLRP7_ENST00000328092.5_Silent_p.F394F|NLRP7_ENST00000448121.2_Silent_p.F394F|NLRP7_ENST00000592784.1_Silent_p.F394F|NLRP7_ENST00000590030.1_Silent_p.F394F|NLRP7_ENST00000588756.1_Silent_p.F394F|NLRP7_ENST00000340844.2_Silent_p.F394F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 394 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GGAAACGCAGGAACAGCCCCG 0.711000 8 20 0 0 0.000274275 0 0 RBM47 54502 broad.mit.edu 37 4 40440409 40440409 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:40440409G>A ENST00000319592.4 - 4 1211 c.502C>T c.(502-504)Ctg>Ttg p.L168L RBM47_ENST00000514014.1_Silent_p.L130L|RBM47_ENST00000381795.6_Silent_p.L168L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.L168L|RBM47_ENST00000381793.2_Silent_p.L168L A0AV96 RBM47_HUMAN RNA binding motif protein 47 168 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 ATCTCCTCCAGGATTTCCTCG 0.642000 32 50 0 0 0.000692331 0 0 NUP133 55746 broad.mit.edu 37 1 229606486 229606486 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:229606486C>G ENST00000261396.3 - 15 2008 c.1917G>C c.(1915-1917)ttG>ttC p.L639F NUP133_ENST00000366679.1_Missense_Mutation_p.L639F|NUP133_ENST00000537506.1_Missense_Mutation_p.L623F NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 639 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) GCTCACAGAGCAACAGTCGAG 0.483000 14 52 0 0 0.000566183 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900726 4900726 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:4900726G>A ENST00000404991.1 - 1 899 c.713C>T c.(712-714)tCc>tTc p.S238F RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 238 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TAATATATTGGAATAGATATT 0.443000 65 65 0 0 0.000781405 0 0 WDR17 116966 broad.mit.edu 37 4 177098301 177098301 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:177098301C>T ENST00000393643.2 + 28 3839 c.3587C>T c.(3586-3588)aCc>aTc p.T1196I WDR17_ENST00000280190.4_Missense_Mutation_p.T1220I|WDR17_ENST00000508596.1_Missense_Mutation_p.T1181I|WDR17_ENST00000507824.2_Missense_Mutation_p.T1195I NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1220 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ACACAGTCCACCAACAGGTGA 0.373000 10 4 0 0 0.00185496 0 0 PRDM9 56979 broad.mit.edu 37 5 23526472 23526472 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:23526472C>T ENST00000296682.3 + 11 1457 c.1275C>T c.(1273-1275)ctC>ctT p.L425L NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 425 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GAAAACTCCTCCAACCAGAGA 0.463000 HNSCC(3;0.000094) 77 7 0 0 0.000781405 0 0 SLC39A5 283375 broad.mit.edu 37 12 56631454 56631454 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56631454G>A ENST00000266980.4 + 11 1855 c.1562G>A c.(1561-1563)gGc>gAc p.G521D SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.G521D NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 521 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGGGGGGCGGCCTCATGCTT 0.652000 6 28 0 0 0.00116845 0 0 KIAA1456 57604 broad.mit.edu 37 8 12878918 12878918 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:12878918G>A ENST00000524591.2 + 5 1219 c.730G>A c.(730-732)Gga>Aga p.G244R KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 244 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 CAGCACATTAGGAAAATCGTT 0.418000 17 59 0 0 0.00074312 0 0 LRP1 4035 broad.mit.edu 37 12 57598218 57598218 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:57598218C>T ENST00000243077.3 + 71 11443 c.10977C>T c.(10975-10977)ttC>ttT p.F3659F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3659 LDL-receptor class A 29. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGGACGAGTTCCAGTGCAACA 0.612000 22 44 0 0 0.00152264 0 0 NCKAP5 344148 broad.mit.edu 37 2 133751795 133751795 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:133751795C>T ENST00000409261.1 - 7 732 c.359G>A c.(358-360)cGa>cAa p.R120Q NCKAP5_ENST00000317721.6_Missense_Mutation_p.R120Q|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R120Q|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R120Q NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 120 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CAATAGATTTCGTACTGTTTC 0.348000 5 15 0 0 0.000602214 0 0 ATP13A5 344905 broad.mit.edu 37 3 193019069 193019069 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:193019069G>A ENST00000342358.4 - 24 2823 c.2706C>T c.(2704-2706)tcC>tcT p.S902S ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 902 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ATACTCCAAAGGATGAAACCA 0.323000 94 153 0 0 0.000781405 0 0 SEC14L3 266629 broad.mit.edu 37 22 30867904 30867904 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:30867904C>T ENST00000215812.4 - 1 132 c.42G>A c.(40-42)gaG>gaA p.E14E SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR NM_174975.4 NP_777635.1 Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 14 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TGGCCAGGGTCTCTGCCTGTT 0.627000 62 79 0 0 0.000781405 0 0 MUC17 140453 broad.mit.edu 37 7 100679937 100679937 + Missense_Mutation SNP G G A rs71286279 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100679937G>A ENST00000306151.4 + 3 5304 c.5240G>A c.(5239-5241)gGa>gAa p.G1747E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1747 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTAGTGAAGGAACCACTCCA 0.512000 149 244 0 0 0.000781405 0 0 CERS5 91012 broad.mit.edu 37 12 50536905 50536905 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:50536905C>A ENST00000317551.6 - 3 510 c.386G>T c.(385-387)cGg>cTg p.R129L CERS5_ENST00000422340.2_Missense_Mutation_p.R71L NM_147190.2 NP_671723.1 Q8N5B7 CERS5_HUMAN ceramide synthase 5 129 ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CTGATTCCTCCGATGGCGAAA 0.478000 9 311 1.12685e-05 5.37234e-05 0.000274275 1 0 TENM3 55714 broad.mit.edu 37 4 183650332 183650332 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:183650332G>A ENST00000511685.1 + 14 2706 c.2583G>A c.(2581-2583)aaG>aaA p.K861K TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.K861K teneurin transmembrane protein 3 CTTTCAATAAGAGGTTAATGC 0.378000 18 3 0 0 0.00074312 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297142 28297142 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28297142C>T ENST00000414429.1 - 6 1222 c.319G>A c.(319-321)Ggg>Agg p.G107R ZSCAN31_ENST00000344279.6_Missense_Mutation_p.G107R|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.G107R|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.G107R zinc finger and SCAN domain containing 31 GCCTCCTCCCCACTCTCCGGA 0.537000 105 120 0 0 0.000781405 0 0 NLRC5 84166 broad.mit.edu 37 16 57088686 57088686 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:57088686C>T ENST00000436936.1 + 25 3755 c.3530C>T c.(3529-3531)cCg>cTg p.P1177L NLRC5_ENST00000308149.7_Missense_Mutation_p.P1177L|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1177L|NLRC5_ENST00000262510.6_Missense_Mutation_p.P1177L Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1177 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding p.P1177Q(1) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GGACTGTCCCCGAAAAGCCCC 0.582000 108 82 0 0 0.000781405 0 0 IL11 3589 broad.mit.edu 37 19 55879926 55879926 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55879926G>A ENST00000264563.2 - 3 254 c.192C>T c.(190-192)ttC>ttT p.F64F IL11_ENST00000585513.1_Silent_p.F64F|IL11_ENST00000590625.1_5'UTR NM_000641.3 NP_000632.1 P20809 IL11_HUMAN interleukin 11 64 B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity|growth factor activity|interleukin-11 receptor binding large_intestine(1)|skin(1) 2 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) Oprelvekin(DB00038) CGTCAGCTGGGAATTTGTCCC 0.667000 14 33 0 0 0.000422831 0 0 SGCA 6442 broad.mit.edu 37 17 48245361 48245361 + Silent SNP G G A rs147739328 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48245361G>A ENST00000262018.3 + 4 402 c.366G>A c.(364-366)ctG>ctA p.L122L SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000344627.6_Silent_p.L122L|SGCA_ENST00000451235.2_Silent_p.L20L|SGCA_ENST00000543315.1_Silent_p.L122L NM_000023.2 NP_000014.1 Q16586 SGCA_HUMAN sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 122 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 GGCTGGTGCTGGAGATTGGGG 0.592000 46 29 0 0 0.000781405 0 0 PLBD2 196463 broad.mit.edu 37 12 113824829 113824829 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:113824829G>A ENST00000280800.3 + 10 1405 c.1374G>A c.(1372-1374)cgG>cgA p.R458R PLBD2_ENST00000545182.2_Silent_p.R426R NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 458 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GGAGCCCCCGGGCCCAGATCT 0.607000 40 41 0 0 0.000509022 0 0 SVEP1 79987 broad.mit.edu 37 9 113169739 113169739 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:113169739G>A ENST00000401783.2 - 38 8477 c.8141C>T c.(8140-8142)tCa>tTa p.S2714L SVEP1_ENST00000374469.1_Missense_Mutation_p.S2691L|SVEP1_ENST00000297826.5_Missense_Mutation_p.S640L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2714 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACATTCAATTGAAATGCAGGA 0.463000 80 12 0 0 0.000781405 0 0 OR7D2 162998 broad.mit.edu 37 19 9296615 9296615 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9296615C>T ENST00000344248.2 + 1 337 c.158C>T c.(157-159)tCc>tTc p.S53F NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 53 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 AGCTCTGACTCCCACCTCCAC 0.537000 28 13 0 0 0.00106085 0 0 AHRR 57491 broad.mit.edu 37 5 434374 434374 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:434374A>T ENST00000316418.5 + 12 1629 c.1585A>T c.(1585-1587)Atg>Ttg p.M529L AHRR_ENST00000512529.1_Missense_Mutation_p.M357L|AHRR_ENST00000506456.1_Missense_Mutation_p.M367L|AHRR_ENST00000505113.1_Missense_Mutation_p.M511L NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GGGCTATCCCATGGAGGACAT 0.617000 25 18 0 0 0.000586117 0 0 GATM 2628 broad.mit.edu 37 15 45657033 45657033 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:45657033C>T ENST00000396659.3 - 7 1343 c.1004G>A c.(1003-1005)tGg>tAg p.W335* GATM_ENST00000558336.1_Nonsense_Mutation_p.W335* NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 335 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) AATGATAGTCCATCCTGCTTT 0.338000 17 24 0 0 0.00121646 0 0 SLC7A2 6542 broad.mit.edu 37 8 17417987 17417987 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:17417987C>T ENST00000470360.1 + 11 1683 c.1566C>T c.(1564-1566)tcC>tcT p.S522S SLC7A2_ENST00000494857.1_Silent_p.S483S|SLC7A2_ENST00000398090.3_Silent_p.S522S|SLC7A2_ENST00000004531.10_Silent_p.S523S|SLC7A2_ENST00000522656.1_Silent_p.S483S P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 483 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TCTGCCCCTCCCTTCTGCCAA 0.537000 18 67 0 0 0.00188189 0 0 TMEM244 253582 broad.mit.edu 37 6 130164701 130164701 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:130164701G>A ENST00000438392.1 - 4 347 c.167C>T c.(166-168)cCc>cTc p.P56L TMEM244_ENST00000368143.1_Missense_Mutation_p.P56L Q5VVB8 CF191_HUMAN transmembrane protein 244 56 integral to membrane GAGCCATGAGGGATTTGTTTT 0.303000 62 9 0 0 0.000781405 0 0 ATP8A1 10396 broad.mit.edu 37 4 42467036 42467036 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:42467036G>A ENST00000381668.5 - 26 2613 c.2382C>T c.(2380-2382)gtC>gtT p.V794V ATP8A1_ENST00000264449.10_Silent_p.V779V NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 794 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CAAGCGTTACGACTTTGACTT 0.413000 17 31 0 0 0.00121646 0 0 RAB27B 5874 broad.mit.edu 37 18 52556589 52556589 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:52556589G>A ENST00000262094.5 + 6 1123 c.602G>A c.(601-603)gGa>gAa p.G201E RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 201 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) GTCAATGGTGGAAATTCTGGA 0.413000 23 28 0 0 0.00229938 0 0 CTC1 80169 broad.mit.edu 37 17 8137885 8137885 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:8137885G>A ENST00000315684.8 - 10 1713 c.1706C>T c.(1705-1707)cCt>cTt p.P569L NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 569 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 AAGGGCCTTAGGGTCAAAGGA 0.632000 13 2 0 0 0.000308642 0 0 WISP1 8840 broad.mit.edu 37 8 134233063 134233063 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:134233063C>T ENST00000250160.6 + 3 695 c.589C>T c.(589-591)Ccc>Tcc p.P197S WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 197 cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CAAGACCGCACCCCGTGACAC 0.657000 12 33 0 0 0.000978159 0 0 TMEM144 55314 broad.mit.edu 37 4 159162695 159162695 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:159162695C>T ENST00000296529.6 + 11 1357 c.837C>T c.(835-837)acC>acT p.T279T TMEM144_ENST00000503404.1_3'UTR NM_018342.4 NP_060812.2 Q7Z5S9 TM144_HUMAN transmembrane protein 144 279 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) CTATAGCTACCTGCTGTTGGT 0.418000 33 66 0 0 0.000953801 0 0 PPP4R4 57718 broad.mit.edu 37 14 94722887 94722887 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:94722887G>A ENST00000304338.3 + 17 2110 c.1956G>A c.(1954-1956)gtG>gtA p.V652V NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 652 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AAATGTGTGTGAGGAAACTCC 0.363000 20 19 0 0 0.00152264 0 0 WNT3 7473 broad.mit.edu 37 17 44845944 44845944 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:44845944C>T ENST00000225512.5 - 4 972 c.810G>A c.(808-810)acG>acA p.T270T NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 270 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) GGTCCCTCTCCGTGGGTGGCT 0.587000 18 62 0 0 0.000958276 0 0 LONRF2 164832 broad.mit.edu 37 2 100906787 100906787 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:100906787C>A ENST00000393437.3 - 10 2492 c.1853G>T c.(1852-1854)cGa>cTa p.R618L LONRF2_ENST00000409647.1_Missense_Mutation_p.R375L NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 618 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GCTTAGCACTCGGAACCGACT 0.448000 47 71 2.14674e-31 1.0399e-30 0.000781405 1 0 LPP 4026 broad.mit.edu 37 3 188584050 188584050 + Silent SNP C C T rs138205223 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:188584050C>T ENST00000312675.4 + 9 1719 c.1473C>T c.(1471-1473)acC>acT p.T491T LPP_ENST00000543006.1_Silent_p.T491T NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 491 LIM zinc-binding 2. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TCCGAGCCACCGGGAAGGCCT 0.562000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 43 61 0 0 0.000680045 0 0 RXFP3 51289 broad.mit.edu 37 5 33938078 33938078 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:33938078G>A ENST00000330120.3 + 1 1588 c.1233G>A c.(1231-1233)tcG>tcA p.S411S NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 411 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CGTCTCCTTCGATCACCAGCA 0.706000 25 27 0 0 0.00106085 0 0 LOC146880 146880 broad.mit.edu 37 17 62750165 62750165 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:62750165C>T ENST00000400873.3 - 0 2192 NR_026899.1 CCAGAATAATCTTGGTATCTT 0.388000 245 35 0 0 0.000781405 0 0 L1TD1 54596 broad.mit.edu 37 1 62677026 62677026 + Silent SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:62677026G>C ENST00000498273.1 + 4 2875 c.2580G>C c.(2578-2580)ctG>ctC p.L860L NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 860 L -> V (in dbSNP:rs11207934). breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 gagaattactggggaatAATA 0.368000 22 52 0 0 0.000375601 0 0 CNTRL 11064 broad.mit.edu 37 9 123914842 123914842 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:123914842C>T ENST00000373855.1 + 26 4303 c.4043C>T c.(4042-4044)tCc>tTc p.S1348F CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.S1348F|CNTRL_ENST00000373850.1_Missense_Mutation_p.S796F|CNTRL_ENST00000373847.1_Missense_Mutation_p.S796F Q7Z7A1 CNTRL_HUMAN centriolin 1348 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ATGAGAGCATCCAAGCGGCAG 0.373000 51 9 0 0 0.000781405 0 0 ARAP1 116985 broad.mit.edu 37 11 72410593 72410593 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:72410593G>A ENST00000359373.5 - 17 3158 c.2307C>T c.(2305-2307)ttC>ttT p.F769F ARAP1_ENST00000426523.1_Silent_p.F524F|ARAP1_ENST00000393609.3_Silent_p.F769F|ARAP1_ENST00000334211.8_Silent_p.F524F|ARAP1_ENST00000429686.1_Silent_p.F463F|ARAP1_ENST00000393605.3_Silent_p.F529F|ARAP1_ENST00000455638.2_Silent_p.F769F|ARAP1_ENST00000495878.1_5'UTR Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 769 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 AGCGCCGGCTGAACTCTGGGG 0.617000 51 111 0 0 0.000781405 0 0 GGT1 2678 broad.mit.edu 37 22 25019187 25019187 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:25019187G>A ENST00000400382.1 + 10 1602 c.847G>A c.(847-849)Ggg>Agg p.G283R GGT1_ENST00000400380.1_Missense_Mutation_p.G283R|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000248923.4_Missense_Mutation_p.G283R|GGT1_ENST00000406383.2_Missense_Mutation_p.G283R|GGT1_ENST00000400383.1_Missense_Mutation_p.G283R P19440 GGT1_HUMAN gamma-glutamyltransferase 1 283 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) GCCGCTCAGCGGGCCCGTGCT 0.627000 10 4 0 0 0.00136819 0 0 OR51B4 79339 broad.mit.edu 37 11 5322332 5322332 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:5322332G>A ENST00000380224.1 - 1 894 c.845C>T c.(844-846)cCa>cTa p.P282L HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCACGAATGGAGGAAAGAG 0.433000 19 23 0 0 0.000958276 0 0 LMAN1L 79748 broad.mit.edu 37 15 75114199 75114199 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:75114199C>T ENST00000309664.5 + 10 1228 c.1089C>T c.(1087-1089)tcC>tcT p.S363S LMAN1L_ENST00000379709.3_Silent_p.S351S|RP11-414J4.2_ENST00000564823.1_RNA NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 363 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGATTCCATCCACCCCAGGGA 0.612000 45 39 0 0 0.000781405 0 0 COL20A1 57642 broad.mit.edu 37 20 61939414 61939414 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:61939414C>T ENST00000422202.1 + 6 836 c.768C>T c.(766-768)ctC>ctT p.L256L COL20A1_ENST00000326996.6_Silent_p.L249L|COL20A1_ENST00000435874.1_Silent_p.L256L|COL20A1_ENST00000358894.6_Silent_p.L249L Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 249 VWFA. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TGCGCCGCCTCCGCTACAAGG 0.657000 23 69 0 0 0.000586117 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39911444 39911444 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:39911444C>T ENST00000425673.1 + 13 1676 c.1351C>T c.(1351-1353)Cct>Tct p.P451S PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P451S|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P392S|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P451S|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P451S Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 451 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACTTGGGTCTCCTCGACCTCG 0.562000 20 33 0 0 0.00047179 0 0 ASTN1 460 broad.mit.edu 37 1 176926840 176926840 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176926840G>A ENST00000367654.2 - 11 1898 c.1885C>T c.(1885-1887)Cgc>Tgc p.R629C ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C O14525 ASTN1_HUMAN astrotactin 1 629 EGF-like 2. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCCAGCTTGCGATCTGAAATA 0.537000 31 16 0 0 0.00058488 0 0 DPY19L4 286148 broad.mit.edu 37 8 95778881 95778881 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:95778881C>T ENST00000414645.2 + 11 1242 c.1143C>T c.(1141-1143)ttC>ttT p.F381F NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 381 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TGCTGAAATTCCTTGAAGTAA 0.303000 186 214 0 0 0.000781405 0 0 IZUMO4 113177 broad.mit.edu 37 19 2099315 2099315 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:2099315G>A ENST00000395307.2 + 9 1181 c.616G>A c.(616-618)Gat>Aat p.D206N IZUMO4_ENST00000395301.3_Missense_Mutation_p.D224N NM_001031735.2 NP_001026905.2 Q1ZYL8 IZUM4_HUMAN IZUMO family member 4 224 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 6 GACCTTGGAAGATGCTGCTGA 0.642000 5 25 0 0 0.00116845 0 0 CPXM2 119587 broad.mit.edu 37 10 125521433 125521433 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:125521433C>T ENST00000241305.3 - 11 1886 c.1732G>A c.(1732-1734)Gag>Aag p.E578K CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 578 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GTGCCCTCCTCCTTCTGGAAG 0.667000 17 0 0 0 0.000958276 0 0 CACNA1H 8912 broad.mit.edu 37 16 1262084 1262084 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:1262084G>A ENST00000348261.5 + 25 4953 c.4705G>A c.(4705-4707)Gag>Aag p.E1569K CACNA1H_ENST00000565831.1_Missense_Mutation_p.E1569K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E1569K NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1569 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGAGGCGGAGGAGGCGCGGCG 0.667000 27 52 0 0 0.000586117 0 0 RPA1 6117 broad.mit.edu 37 17 1747224 1747224 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:1747224C>T ENST00000254719.5 + 3 205 c.95C>T c.(94-96)cCc>cTc p.P32L NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 32 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 AACATCCGTCCCATTACTACG 0.493000 Nucleotide excision repair (NER) 128 7 0 0 0.000781405 0 0 WWC1 23286 broad.mit.edu 37 5 167850869 167850869 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:167850869C>T ENST00000265293.4 + 11 2108 c.1606C>T c.(1606-1608)Cca>Tca p.P536S WWC1_ENST00000521089.1_Missense_Mutation_p.P536S NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 536 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CTCCCTATCCCCACGTTCCTC 0.622000 27 25 0 0 0.000720815 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16812687 16812687 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:16812687G>A ENST00000355661.3 - 20 2815 c.2805C>T c.(2803-2805)ccC>ccT p.P935P PLEKHA7_ENST00000531066.1_Silent_p.P935P|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Silent_p.P936P|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 935 Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GCACAGCCGGGGGCTGGTCCT 0.642000 14 32 0 0 0.00074312 0 0 CDO1 1036 broad.mit.edu 37 5 115146962 115146962 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:115146962C>T ENST00000250535.4 - 3 855 c.299G>A c.(298-300)gGa>gAa p.G100E CDO1_ENST00000502631.1_5'UTR NM_001801.2 NP_001792.2 Q16878 CDO1_HUMAN cysteine dioxygenase type 1 100 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) CTTTAGATTTCCCTGTAGCAT 0.408000 82 62 0 0 0.000781405 0 0 KIAA0232 9778 broad.mit.edu 37 4 6865634 6865634 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:6865634C>T ENST00000307659.5 + 7 3980 c.3525C>T c.(3523-3525)ttC>ttT p.F1175F KIAA0232_ENST00000425103.1_Silent_p.F1175F NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1175 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 CTGGAAAATTCCTTCCCAGGT 0.413000 22 26 0 0 0.00047179 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011427 160011427 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:160011427G>A ENST00000368089.3 - 2 1122 c.896C>T c.(895-897)tCc>tTc p.S299F KCNJ10_ENST00000509700.1_Intron NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 299 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGCAGGTAGGAAGTGCGCAC 0.527000 14 28 0 0 0.00185496 0 0 FSTL4 23105 broad.mit.edu 37 5 132585175 132585175 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132585175C>T ENST00000265342.7 - 7 1070 c.821G>A c.(820-822)gGa>gAa p.G274E FSTL4_ENST00000507112.1_5'UTR NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 274 Ig-like 1. extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTCAGGTCTCCATGGACGGC 0.582000 18 22 0 0 0.00121646 0 0 FGR 2268 broad.mit.edu 37 1 27949630 27949630 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:27949630G>A ENST00000374005.3 - 4 540 c.252C>T c.(250-252)gcC>gcT p.A84A FGR_ENST00000374004.1_Silent_p.A84A|FGR_ENST00000399173.1_Silent_p.A84A|FGR_ENST00000545953.1_Silent_p.A84A NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 84 SH3. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGTCATACAGGGCAATGAACA 0.557000 9 51 0 0 0.000673444 0 0 HEATR5A 25938 broad.mit.edu 37 14 31774117 31774117 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:31774117G>A ENST00000543095.2 - 32 5417 c.5233C>T c.(5233-5235)Cct>Tct p.P1745S HEATR5A_ENST00000389961.3_Missense_Mutation_p.P1739S|HEATR5A_ENST00000439727.1_Missense_Mutation_p.P1452S|HEATR5A_ENST00000439348.1_Missense_Mutation_p.P1739S NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1739 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) ATACCTTCAGGAGAGCACACT 0.383000 10 28 0 0 0.000673444 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94650528 94650528 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:94650528C>T ENST00000260526.6 - 18 2191 c.2009G>A c.(2008-2010)gGa>gAa p.G670E ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 670 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GAATTCTGCTCCAAATAAGTG 0.348000 62 29 0 0 0.000781405 0 0 SIX1 6495 broad.mit.edu 37 14 61113243 61113243 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:61113243G>A ENST00000247182.6 - 2 885 c.613C>T c.(613-615)Cct>Tct p.P205S SIX1_ENST00000554986.1_Missense_Mutation_p.P32S NM_005982.3 NP_005973.1 Q15475 SIX1_HUMAN SIX homeobox 1 205 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) CCTTCCAGAGGAGAGAGTTGG 0.458000 43 27 0 0 0.000781405 0 0 STAB1 23166 broad.mit.edu 37 3 52538520 52538520 + Silent SNP C C T rs113269624 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:52538520C>T ENST00000321725.6 + 11 1270 c.1194C>T c.(1192-1194)acC>acT p.T398T NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 398 FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCCTTTCACCGTGCTGGTGC 0.637000 27 4 0 0 0.00178596 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217347558 217347558 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:217347558C>A ENST00000357276.4 + 18 3053 c.2723C>A c.(2722-2724)cCa>cAa p.P908Q AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.P908Q NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 908 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) TCCTTTGACCCAGGAAGTGCT 0.478000 Schimke Immuno-Osseous Dysplasia 6 102 5.18039e-06 2.47184e-05 0.000157383 1 0 HHLA2 11148 broad.mit.edu 37 3 108072538 108072538 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108072538G>A ENST00000357759.5 + 4 743 c.329G>A c.(328-330)aGa>aAa p.R110K HHLA2_ENST00000467761.1_Missense_Mutation_p.R110K|HHLA2_ENST00000489514.2_Missense_Mutation_p.R110K|HHLA2_ENST00000491820.1_Missense_Mutation_p.R110K|HHLA2_ENST00000467562.1_Missense_Mutation_p.R46K NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 110 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TTTTTCAGAAGAGTAAGCCTT 0.423000 39 35 0 0 0.00222228 0 0 COL4A2 1284 broad.mit.edu 37 13 111114659 111114659 + Silent SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:111114659C>A ENST00000360467.5 + 24 2010 c.1704C>A c.(1702-1704)ccC>ccA p.P568P COL4A2-AS2_ENST00000458403.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 568 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CAGGTGTGCCCGGGATGAAAG 0.667000 5 75 0.000602214 0.00285684 0.000602214 1 0 XRCC6BP1 91419 broad.mit.edu 37 12 58350598 58350598 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:58350598C>T ENST00000300145.3 + 6 791 c.666C>T c.(664-666)atC>atT p.I222I XRCC6BP1_ENST00000546709.1_3'UTR NM_033276.2 NP_150592.1 Q9Y6H3 ATP23_HUMAN XRCC6 binding protein 1 222 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 11 TTGGAAGGATCCCACATAACA 0.353000 39 66 0 0 0.00111076 0 0 ZNF676 163223 broad.mit.edu 37 19 22375878 22375878 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:22375878G>A ENST00000397121.2 - 2 387 c.70C>T c.(70-72)Ctg>Ttg p.L24L NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CCTTGCTCCAGAAAAATGATC 0.403000 38 23 0 0 0.00170553 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48204647 48204647 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:48204647C>T ENST00000396720.3 + 15 3852 c.3658C>T c.(3658-3660)Cgg>Tgg p.R1220W CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1220 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CGAGGGTCATCGGCTTCCCGG 0.682000 3 5 0 0 6.4e-05 0 0 GPR18 2841 broad.mit.edu 37 13 99907671 99907671 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:99907671C>T ENST00000340807.3 - 3 1012 c.456G>A c.(454-456)acG>acA p.T152T UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Silent_p.T152T|GPR18_ENST00000397470.2_Silent_p.T152T|UBAC2_ENST00000403766.3_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 152 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) GAGGGGTGGTCGTGGTCAGGG 0.498000 28 62 0 0 0.00127121 0 0 LRP6 4040 broad.mit.edu 37 12 12279653 12279653 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:12279653G>A ENST00000261349.4 - 20 4360 c.4284C>T c.(4282-4284)caC>caT p.H1428H LRP6_ENST00000543091.1_Silent_p.H1383H|LRP6_ENST00000540415.1_Intron|BCL2L14_ENST00000396369.1_Intron NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1428 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) AAGAACTTGGGTGTGGCACAT 0.463000 176 113 0 0 0.000781405 0 0 CCNA1 8900 broad.mit.edu 37 13 37016374 37016374 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:37016374C>T ENST00000418263.1 + 8 1626 c.1276C>T c.(1276-1278)Cat>Tat p.H426Y CCNA1_ENST00000449823.1_Missense_Mutation_p.H383Y|CCNA1_ENST00000255465.4_Missense_Mutation_p.H427Y|CCNA1_ENST00000440264.1_Missense_Mutation_p.H383Y NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 427 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) GAGTGAGCTTCATAAAGCGTA 0.398000 48 22 0 0 0.000781405 0 0 NFATC1 4772 broad.mit.edu 37 18 77170711 77170711 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:77170711C>T ENST00000253506.5 + 2 805 c.436C>T c.(436-438)Cct>Tct p.P146S NFATC1_ENST00000586434.1_Missense_Mutation_p.P133S|NFATC1_ENST00000591814.1_Missense_Mutation_p.P146S|NFATC1_ENST00000542384.1_Missense_Mutation_p.P146S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.P146S|NFATC1_ENST00000318065.5_Missense_Mutation_p.P133S|NFATC1_ENST00000329101.4_Missense_Mutation_p.P133S|NFATC1_ENST00000427363.2_Missense_Mutation_p.P146S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.P133S NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 146 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGACGTCCTCCCTAGCTCCAA 0.622000 23 18 0 0 0.000586117 0 0 DNMBP 23268 broad.mit.edu 37 10 101715157 101715157 + Missense_Mutation SNP G G A rs148247428 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:101715157G>A ENST00000342239.3 - 4 2165 c.2074C>T c.(2074-2076)Ccc>Tcc p.P692S DNMBP_ENST00000324109.4_Missense_Mutation_p.P692S|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 692 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) AGCACTAAGGGGCATGGGGAG 0.532000 24 0 0 0 0.000586117 0 0 OR5D16 390144 broad.mit.edu 37 11 55606570 55606570 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:55606570A>T ENST00000378396.1 + 1 343 c.343A>T c.(343-345)Att>Ttt p.I115F NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I115F(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GACTGAATTAATTCTATTTGC 0.438000 63 90 0 0 0.000781405 0 0 ABCC6 368 broad.mit.edu 37 16 16315466 16315466 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:16315466G>A ENST00000575728.1 - 2 291 c.259C>T c.(259-261)Cgg>Tgg p.R87W ABCC6_ENST00000205557.7_Intron|ABCC6_ENST00000574094.1_Intron NM_001079528.3 NP_001072996.1 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 0 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TGCCTCCCCCGAACATTGCCT 0.542000 8 6 0 0 0.000157383 0 0 TEKT1 83659 broad.mit.edu 37 17 6704242 6704242 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:6704242G>A ENST00000338694.2 - 7 1002 c.873C>T c.(871-873)tcC>tcT p.S291S TEKT1_ENST00000535086.1_Silent_p.S145S NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 291 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TTTTCTCCTGGGAAGCAATCT 0.502000 280 5 0 0 0.000781405 0 0 FGD2 221472 broad.mit.edu 37 6 36988344 36988344 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:36988344C>T ENST00000274963.8 + 10 1321 c.1150C>T c.(1150-1152)Ccc>Tcc p.P384S NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 384 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 TGCTGAGTTTCCCCACTCCTT 0.647000 12 10 0 0 0.00136819 0 0 ZBTB40 9923 broad.mit.edu 37 1 22828003 22828003 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:22828003G>C ENST00000404138.1 + 5 1361 c.850G>C c.(850-852)Gag>Cag p.E284Q ZBTB40_ENST00000375647.4_Missense_Mutation_p.E284Q|ZBTB40_ENST00000374651.4_Intron NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 284 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GAAATGTTTCGAGGGTGAAGG 0.453000 10 36 0 0 0.000978159 0 0 TYK2 7297 broad.mit.edu 37 19 10475409 10475409 + Silent SNP G G A rs138350396 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:10475409G>A ENST00000525621.1 - 9 1729 c.1248C>T c.(1246-1248)ttC>ttT p.F416F TYK2_ENST00000529370.1_Silent_p.F416F|TYK2_ENST00000524462.1_Silent_p.F231F|TYK2_ENST00000264818.6_Silent_p.F416F NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 416 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.F416F(1) breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCAGCGACACGAAGGACAGCG 0.682000 20 18 0 0 0.00121646 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958196 143958196 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:143958196G>A ENST00000292427.4 - 4 733 c.701C>T c.(700-702)aCc>aTc p.T234I CYP11B1_ENST00000517471.1_Missense_Mutation_p.T234I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.T305I NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 234 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GAGCTGGACGGTGGATTTGAA 0.587000 Familial Hyperaldosteronism type I 21 36 0 0 0.00047179 0 0 DNAH2 146754 broad.mit.edu 37 17 7662770 7662770 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7662770C>T ENST00000572933.1 + 16 3939 c.2479C>T c.(2479-2481)Cgg>Tgg p.R827W DNAH2_ENST00000389173.2_Missense_Mutation_p.R827W Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 827 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R827W(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTACATGATTCGGCTGGACCG 0.522000 77 10 0 0 0.000781405 0 0 STOX1 219736 broad.mit.edu 37 10 70645751 70645751 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:70645751T>C ENST00000298596.6 + 3 2282 c.2199T>C c.(2197-2199)agT>agC p.S733S STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.S623S|STOX1_ENST00000399169.4_Silent_p.S733S NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 733 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 GTGCCTGTAGTTCATTATATC 0.453000 43 39 0 0 0.000589545 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950772 235950772 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:235950772C>T ENST00000409212.1 + 4 1866 c.1359C>T c.(1357-1359)gtC>gtT p.V453V SH3BP4_ENST00000392011.2_Silent_p.V453V|SH3BP4_ENST00000344528.4_Silent_p.V453V Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 453 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) ACGTGGCTGTCGTGGCCCATG 0.572000 5 20 0 0 0.00116845 0 0 TSPAN17 26262 broad.mit.edu 37 5 176083873 176083873 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176083873C>T ENST00000298564.10 + 4 628 c.479C>T c.(478-480)cCt>cTt p.P160L TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000508164.1_Intron|TSPAN17_ENST00000515708.1_Intron Q96FV3 TSN17_HUMAN tetraspanin 17 247 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCACTCTCCCCTCACCTGTCC 0.627000 11 28 0 0 0.000958276 0 0 POTEE 445582 broad.mit.edu 37 2 131976308 131976308 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:131976308G>A ENST00000356920.5 + 1 427 c.333G>A c.(331-333)ggG>ggA p.G111G PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.G111G NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 111 ATP binding GCTGCAGGGGGAGCGGCAAGA 0.602000 46 56 0 0 0.000781405 0 0 PGK2 5232 broad.mit.edu 37 6 49754528 49754528 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:49754528G>A ENST00000304801.3 - 1 525 c.373C>T c.(373-375)Cat>Tat p.H125Y NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 125 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TCCTCCACATGAAAGCGCAGG 0.512000 45 61 0 0 0.000781405 0 0 ATE1 11101 broad.mit.edu 37 10 123600660 123600660 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:123600660G>A ENST00000369043.3 - 9 1180 c.1094C>T c.(1093-1095)tCt>tTt p.S365F ATE1_ENST00000224652.6_Missense_Mutation_p.S365F|ATE1_ENST00000535655.1_Missense_Mutation_p.S66F|ATE1_ENST00000543447.1_Missense_Mutation_p.S250F|ATE1_ENST00000540606.1_Missense_Mutation_p.S358F|ATE1_ENST00000369040.3_Missense_Mutation_p.S269F|ATE1_ENST00000481784.1_5'UTR NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 365 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) CAAATACACAGATGATACACA 0.453000 5 1 0 0 0.000602214 0 0 MORC1 27136 broad.mit.edu 37 3 108751625 108751625 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108751625C>T ENST00000232603.5 - 16 1589 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K MORC1_ENST00000483760.1_Missense_Mutation_p.E503K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 503 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AATTCTTTTTCCTGATAATTA 0.289000 40 37 0 0 0.000781405 0 0 CDK18 5129 broad.mit.edu 37 1 205492680 205492680 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:205492680G>A ENST00000360066.2 + 3 501 c.200G>A c.(199-201)gGg>gAg p.G67E CDK18_ENST00000429964.2_Missense_Mutation_p.G67E|CDK18_ENST00000506784.1_Missense_Mutation_p.G67E|CDK18_ENST00000509056.1_Intron NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 65 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 ACAGACAGCGGGGAGGAGCCG 0.677000 5 4 0 0 0.000157383 0 0 ABCC9 10060 broad.mit.edu 37 12 22069894 22069894 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:22069894C>T ENST00000261200.4 - 4 549 c.550G>A c.(550-552)Gag>Aag p.E184K ABCC9_ENST00000345162.2_Missense_Mutation_p.E184K|ABCC9_ENST00000261201.4_Missense_Mutation_p.E184K NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 184 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACATTGATCTCCACAGCCATC 0.413000 119 150 0 0 0.000781405 0 0 PARL 55486 broad.mit.edu 37 3 183547481 183547481 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:183547481C>A ENST00000317096.4 - 10 1105 c.1045G>T c.(1045-1047)Ggt>Tgt p.G349C PARL_ENST00000435888.1_Missense_Mutation_p.G265C|PARL_ENST00000311101.5_Missense_Mutation_p.G299C NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 349 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGTTCATGACCGTAAGTAACA 0.428000 6 216 0.00198382 0.00936454 0.00198382 1 0 ZMYM1 79830 broad.mit.edu 37 1 35563145 35563145 + Silent SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:35563145A>C ENST00000373330.1 + 5 571 c.397A>C c.(397-399)Aga>Cga p.R133R ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.R133R Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 133 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCCTTCTAAGAGAACTTGTTC 0.368000 16 90 0 0 0.000422831 0 0 MYBPC2 4606 broad.mit.edu 37 19 50938457 50938457 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50938457G>A ENST00000357701.5 + 2 110 c.59G>A c.(58-60)gGa>gAa p.G20E NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 20 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GCCCCCAAAGGAGCCCCCAAG 0.617000 6 6 0 0 0.000157383 0 0 TENM4 26011 broad.mit.edu 37 11 78412817 78412817 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:78412817C>T ENST00000278550.7 - 28 5303 c.4841G>A c.(4840-4842)gGg>gAg p.G1614E NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GTCGCCGTCCCCAGTGTAGGT 0.547000 63 46 0 0 0.000781405 0 0 COL6A5 256076 broad.mit.edu 37 3 130159661 130159661 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:130159661C>T ENST00000265379.6 + 35 6973 c.6479C>T c.(6478-6480)tCg>tTg p.S2160L COL6A5_ENST00000432398.2_Missense_Mutation_p.S2160L A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2160 Nonhelical region. axon guidance|cell adhesion collagen p.S2160L(1)|p.S199L(1) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 TTTTTATACTCGGTCAGGCGT 0.323000 11 17 0 0 0.00136819 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883558 19883558 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:19883558G>A ENST00000300571.2 - 2 801 c.610C>T c.(610-612)Ctc>Ttc p.L204F GPRC5B_ENST00000569847.1_Missense_Mutation_p.L204F|GPRC5B_ENST00000537135.1_Missense_Mutation_p.L230F|GPRC5B_ENST00000569479.1_Missense_Mutation_p.L204F|GPRC5B_ENST00000535671.1_Missense_Mutation_p.L204F NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 204 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCGTAGATGAGGGCCATCACA 0.602000 24 66 0 0 0.00106085 0 0 HIC2 23119 broad.mit.edu 37 22 21800468 21800468 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:21800468G>A ENST00000443632.2 + 2 1656 c.1284G>A c.(1282-1284)cgG>cgA p.R428R HIC2_ENST00000407464.2_Silent_p.R428R|HIC2_ENST00000407598.2_Silent_p.R428R Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 428 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) ACATGTACCGGCAGGAGGGCT 0.632000 16 55 0 0 0.00121646 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62788625 62788625 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:62788625G>A ENST00000582986.1 - 0 1984 NR_024386.1 GCTGGGCCCGGATCTGCGTCA 0.607000 47 37 0 0 0.000781405 0 0 HPN 3249 broad.mit.edu 37 19 35551533 35551533 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:35551533G>A ENST00000262626.2 + 9 1448 c.623G>A c.(622-624)cGg>cAg p.R208Q HPN_ENST00000597419.1_Missense_Mutation_p.R50Q|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.R208Q NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 208 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) CCTGGTAGGCGGAACCGGGTC 0.692000 18 24 0 0 0.00188189 0 0 KRT80 144501 broad.mit.edu 37 12 52565271 52565271 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52565271G>C ENST00000394815.2 - 9 1367 c.1270C>G c.(1270-1272)Cga>Gga p.R424G KRT80_ENST00000313234.5_3'UTR NM_182507.2 NP_872313.2 Q6KB66 K2C80_HUMAN keratin 80 424 Tail. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) TTCTTCTTTCGGGAGGGGGCC 0.562000 20 51 0 0 0.00188189 0 0 ALPK2 115701 broad.mit.edu 37 18 56204337 56204337 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:56204337G>A ENST00000361673.3 - 5 3295 c.3082C>T c.(3082-3084)Cct>Tct p.P1028S RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1028 ATP binding|protein serine/threonine kinase activity p.P1028T(1)|p.P389T(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTGTCCTCAGGAATTGACACA 0.483000 41 59 0 0 0.00222228 0 0 WBSCR22 114049 broad.mit.edu 37 7 73108353 73108353 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:73108353C>T ENST00000265758.2 + 10 732 c.674C>T c.(673-675)cCc>cTc p.P225L WBSCR22_ENST00000423497.1_Missense_Mutation_p.P225L|WBSCR22_ENST00000423166.2_3'UTR NM_017528.4 NP_059998.2 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 225 nucleus methyltransferase activity autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1) 13 Lung NSC(55;0.0908)|all_lung(88;0.198) GAAGTTGAACCCAGGGAGTCT 0.542000 24 97 0 0 0.000720815 0 0 KDM3B 51780 broad.mit.edu 37 5 137756620 137756620 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:137756620C>T ENST00000314358.5 + 15 4141 c.3941C>T c.(3940-3942)cCc>cTc p.P1314L KDM3B_ENST00000394866.1_Missense_Mutation_p.P970L|KDM3B_ENST00000542866.1_Missense_Mutation_p.P346L NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1314 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 ACAGGCATACCCTTTCCCCCG 0.512000 40 20 0 0 0.000781405 0 0 PPM1H 57460 broad.mit.edu 37 12 63195772 63195772 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:63195772C>T ENST00000228705.6 - 3 880 c.580G>A c.(580-582)Gag>Aag p.E194K NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 194 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) TCAGGCTCCTCCCCCAGGCAG 0.716000 28 57 0 0 0.00209593 0 0 FADS3 3995 broad.mit.edu 37 11 61643405 61643405 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:61643405G>A ENST00000278829.2 - 11 1356 c.1204C>T c.(1204-1206)Ccg>Tcg p.P402S FADS3_ENST00000525588.1_Missense_Mutation_p.P374S|FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Missense_Mutation_p.P287S NM_021727.3 NP_068373.1 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 402 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TTGACCAGCGGGGCCACCCGG 0.652000 40 79 0 0 0.00222228 0 0 SNX24 28966 broad.mit.edu 37 5 122281819 122281819 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:122281819G>A ENST00000261369.4 + 3 399 c.214G>A c.(214-216)Gaa>Aaa p.E72K SNX24_ENST00000513881.1_Missense_Mutation_p.E72K|SNX24_ENST00000395451.4_Missense_Mutation_p.E105K|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Missense_Mutation_p.E72K NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 72 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) CAAAGTCTTGGAACAGCGACG 0.333000 15 23 0 0 0.000958276 0 0 NOL4 8715 broad.mit.edu 37 18 31802988 31802988 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:31802988G>A ENST00000261592.5 - 1 527 c.230C>T c.(229-231)gCc>gTc p.A77V NOL4_ENST00000269185.4_5'UTR|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000589544.1_Missense_Mutation_p.A77V NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 77 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CACTTGCTTGGCGCCGCCGCC 0.622000 15 30 0 0 0.000422831 0 0 CLK1 1195 broad.mit.edu 37 2 201718127 201718127 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201718127G>T ENST00000434813.2 - 13 1817 c.1483C>A c.(1483-1485)Ctc>Atc p.L495I CLK1_ENST00000321356.4_Missense_Mutation_p.L453I|CLK1_ENST00000409769.2_Missense_Mutation_p.L276I NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 453 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TTCTGAATGAGGTCAAAGAGA 0.363000 54 45 4.6707e-30 2.26158e-29 0.000781405 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3678723 3678723 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3678723C>T ENST00000344754.4 - 8 1843 c.1844G>A c.(1843-1845)gGg>gAg p.G615E SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G615E NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 615 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CCGTCCAGCCCCGGCCCCAGC 0.657000 8 10 0 0 0.000157383 0 0 COX6B1 1340 broad.mit.edu 37 19 36142191 36142191 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36142191C>T ENST00000246554.3 + 2 238 c.46C>T c.(46-48)Cct>Tct p.P16S COX6B1_ENST00000392201.1_Missense_Mutation_p.P16S|COX6B1_ENST00000592141.1_Missense_Mutation_p.P16S NM_001863.4 NP_001854.1 P14854 CX6B1_HUMAN cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) 16 respiratory electron transport chain mitochondrial inner membrane|mitochondrial intermembrane space cytochrome-c oxidase activity lung(6)|prostate(1)|stomach(1) 8 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAAGACCGCCCCTTTTGACAG 0.572000 12 26 0 0 0.000308642 0 0 SART3 9733 broad.mit.edu 37 12 108939021 108939021 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:108939021G>A ENST00000228284.3 - 4 857 c.623C>T c.(622-624)tCc>tTc p.S208F SART3_ENST00000431469.2_Missense_Mutation_p.S208F NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 208 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 TTCAAACACGGAGCGAACTTT 0.468000 Porokeratosis 44 40 0 0 0.000589545 0 0 CDH20 28316 broad.mit.edu 37 18 59206374 59206374 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:59206374G>A ENST00000262717.4 + 9 1924 c.1526G>A c.(1525-1527)gGa>gAa p.G509E CDH20_ENST00000538374.1_Missense_Mutation_p.G509E|CDH20_ENST00000536675.2_Missense_Mutation_p.G509E Q9HBT6 CAD20_HUMAN cadherin 20, type 2 509 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GCCAAGGCAGGACAGGTAAGG 0.453000 90 79 0 0 0.000781405 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548624 20548624 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20548624G>A ENST00000329697.6 - 14 1858 c.1690C>T c.(1690-1692)Cga>Tga p.R564* ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R564*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R564*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R485* NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 564 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.R564*(2) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TCCTTGTCTCGAAGTTTGGTT 0.463000 113 86 0 0 0.000781405 0 0 IGKV3-7 28915 broad.mit.edu 37 2 89278134 89278134 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:89278134G>A ENST00000390247.2 - 0 297 CATAGATGAGGAGCCTGGGCG 0.592000 38 55 0 0 0.00148497 0 0 ACACB 32 broad.mit.edu 37 12 109692107 109692107 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:109692107C>T ENST00000338432.7 + 44 6253 c.6134C>T c.(6133-6135)cCc>cTc p.P2045L ACACB_ENST00000377854.5_Missense_Mutation_p.P1975L|ACACB_ENST00000377848.3_Missense_Mutation_p.P2045L|ACACB_ENST00000543201.1_Missense_Mutation_p.P711L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2045 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCCTACGACCCCCGGTGGATG 0.493000 75 62 0 0 0.000781405 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030225 95030225 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95030225G>A ENST00000557004.1 + 2 827 c.406G>A c.(406-408)Gaa>Aaa p.E136K SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.E136K|SERPINA4_ENST00000555095.1_Missense_Mutation_p.E136K P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 136 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCATGGGCTGGAAACACGCGT 0.567000 44 36 0 0 0.000781405 0 0 CENPJ 55835 broad.mit.edu 37 13 25479569 25479569 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25479569G>A ENST00000381884.4 - 7 2792 c.2607C>T c.(2605-2607)ttC>ttT p.F869F CENPJ_ENST00000545981.1_Silent_p.F869F NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 869 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AAGAAGGAAAGAATTTCATCA 0.423000 48 27 0 0 0.000781405 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139743 142139743 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142139743C>T ENST00000390374.3 - 0 72 AAACCCAGGACCACCCAGCAT 0.532000 87 27 0 0 0.000781405 0 0 SDPR 8436 broad.mit.edu 37 2 192700920 192700920 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:192700920C>T ENST00000304141.4 - 2 1336 c.1007G>A c.(1006-1008)gGt>gAt p.G336D NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 336 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TTCGGAATGACCCTCTGCAAA 0.572000 60 69 0 0 0.000781405 0 0 MBL2 4153 broad.mit.edu 37 10 54531369 54531369 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:54531369G>A ENST00000373968.3 - 1 91 c.27C>T c.(25-27)ctC>ctT p.L9L NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 9 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 TCAGGAGAAGGAGAGGGAGTG 0.502000 14 13 0 0 0.000308642 0 0 WNT2B 7482 broad.mit.edu 37 1 113059861 113059861 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:113059861G>A ENST00000369684.4 + 4 1285 c.800G>A c.(799-801)cGa>cAa p.R267Q WNT2B_ENST00000369686.4_Missense_Mutation_p.R248Q|WNT2B_ENST00000256640.5_Missense_Mutation_p.R175Q NM_024494.2 NP_078613.1 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, member 2B 267 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1) 18 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TACCTGCGGCGACGCTATGAT 0.607000 52 18 0 0 0.000781405 0 0 TDRD5 163589 broad.mit.edu 37 1 179562978 179562978 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:179562978G>A ENST00000444136.1 + 3 866 c.616G>A c.(616-618)Gaa>Aaa p.E206K TDRD5_ENST00000367614.1_Missense_Mutation_p.E206K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E206K NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 206 Lotus/OST-HTH 2. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TGTAACAGAGGAAAAGCCGAG 0.453000 12 36 0 0 0.00185496 0 0 KIF2A 3796 broad.mit.edu 37 5 61648535 61648535 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:61648535C>T ENST00000381103.2 + 6 880 c.395C>T c.(394-396)cCt>cTt p.P132L KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.P152L|KIF2A_ENST00000401507.3_Missense_Mutation_p.P152L|KIF2A_ENST00000509663.2_Intron NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 152 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) TTTGGACCCCCTTGTATGTAA 0.378000 13 23 0 0 0.00185496 0 0 TRIM71 131405 broad.mit.edu 37 3 32932199 32932199 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:32932199G>A ENST00000383763.4 + 4 1566 c.1503G>A c.(1501-1503)aaG>aaA p.K501K NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 501 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCCAGGGTAAGGTGGCCTCCT 0.602000 14 17 0 0 0.000308642 0 0 CACNA1D 776 broad.mit.edu 37 3 53760973 53760973 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:53760973C>T ENST00000288139.3 + 16 2346 c.2228C>T c.(2227-2229)tCt>tTt p.S743F CACNA1D_ENST00000422281.2_Missense_Mutation_p.S723F|CACNA1D_ENST00000350061.5_Missense_Mutation_p.S723F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 723 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGCCCATCCTCTTCAGGAATG 0.502000 105 17 0 0 0.000781405 0 0 NFRKB 4798 broad.mit.edu 37 11 129734737 129734737 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:129734737G>A ENST00000446488.3 - 26 3886 c.3783C>T c.(3781-3783)atC>atT p.I1261I NFRKB_ENST00000524746.1_Silent_p.I1261I|NFRKB_ENST00000304521.5_Silent_p.I1261I|NFRKB_ENST00000524794.1_Silent_p.I1286I NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1261 Gln-rich. DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GGACAGTCTGGATGCGCACCT 0.532000 48 9 0 0 0.000781405 0 0 PTPN22 26191 broad.mit.edu 37 1 114380814 114380814 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:114380814G>A ENST00000359785.5 - 13 1343 c.1208C>T c.(1207-1209)cCa>cTa p.P403L PTPN22_ENST00000528414.1_Missense_Mutation_p.P348L|PTPN22_ENST00000420377.2_Missense_Mutation_p.P403L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.P276L|PTPN22_ENST00000538253.1_Missense_Mutation_p.P159L NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 403 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCAACTATTGGAAATGCCTT 0.403000 17 62 0 0 0.000566183 0 0 PCLO 27445 broad.mit.edu 37 7 82545449 82545449 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82545449C>T ENST00000423517.2 - 7 12190 c.11853G>A c.(11851-11853)caG>caA p.Q3951Q PCLO_ENST00000333891.8_Silent_p.Q3951Q|PCLO_ENST00000437081.1_Silent_p.Q671Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3882 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTGAAGGTAACTGATAAGAAG 0.438000 91 419 0 0 0.000781405 0 0 KREMEN1 83999 broad.mit.edu 37 22 29533461 29533461 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:29533461C>T ENST00000400338.2 + 6 816 c.763C>T c.(763-765)Cac>Tac p.H255Y KREMEN1_ENST00000407188.1_Missense_Mutation_p.H253Y|KREMEN1_ENST00000327813.5_Missense_Mutation_p.H255Y|KREMEN1_ENST00000400335.4_Missense_Mutation_p.H255Y Q96MU8 KREM1_HUMAN kringle containing transmembrane protein 1 253 CUB. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 CTCCCACATCCACTTCAGCTT 0.612000 46 41 0 0 0.000781405 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263830 140263830 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140263830G>A ENST00000289272.2 + 1 1977 c.1977G>A c.(1975-1977)ctG>ctA p.L659L PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.L659L|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCCGCGCTGACGGCCACGG 0.697000 22 64 0 0 0.00188189 0 0 DUSP13 51207 broad.mit.edu 37 10 76855425 76855425 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:76855425C>T ENST00000491677.2 - 7 1231 c.689G>A c.(688-690)gGc>gAc p.G230D DUSP13_ENST00000472493.2_Missense_Mutation_p.G101D|DUSP13_ENST00000607131.1_Missense_Mutation_p.G194D|DUSP13_ENST00000478873.2_Missense_Mutation_p.G237D|DUSP13_ENST00000605915.1_Missense_Mutation_p.G123D|DUSP13_ENST00000372700.3_Missense_Mutation_p.G151D|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 92 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CGCCTCGATGCCATAGTACTC 0.552000 80 12 0 0 0.000781405 0 0 MXRA5 25878 broad.mit.edu 37 X 3235706 3235706 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:3235706C>T ENST00000217939.6 - 6 6170 c.6016G>A c.(6016-6018)Gaa>Aaa p.E2006K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2006 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTCCGGTTTTCGTGCAGGGTG 0.622000 25 3 0 0 0.000720815 0 0 TMEM74 157753 broad.mit.edu 37 8 109796737 109796737 + Silent SNP G G A rs139123399 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:109796737G>A ENST00000297459.3 - 2 769 c.591C>T c.(589-591)atC>atT p.I197I TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 197 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CCCGTGGGACGATGTAAGAGA 0.572000 30 71 0 0 0.00178596 0 0 NEB 4703 broad.mit.edu 37 2 152522714 152522714 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:152522714G>A ENST00000427231.2 - 41 5123 c.4921C>T c.(4921-4923)Cag>Tag p.Q1641* NEB_ENST00000397345.3_Nonsense_Mutation_p.Q1641*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q1641*|NEB_ENST00000172853.10_Nonsense_Mutation_p.Q1641*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q1641*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q1641* NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1641 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCAACCTCCTGAGATTTCTTT 0.502000 89 111 0 0 0.000781405 0 0 SPAM1 6677 broad.mit.edu 37 7 123594319 123594319 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:123594319C>T ENST00000340011.5 + 3 1052 c.695C>T c.(694-696)cCc>cTc p.P232L SPAM1_ENST00000402183.2_Missense_Mutation_p.P232L|SPAM1_ENST00000223028.7_Missense_Mutation_p.P232L|SPAM1_ENST00000460182.1_Missense_Mutation_p.P232L|SPAM1_ENST00000439500.1_Missense_Mutation_p.P232L NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 232 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TATAAGAAACCCGGTTACAAT 0.368000 42 86 0 0 0.00170553 0 0 ADORA3 140 broad.mit.edu 37 1 112031393 112031393 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:112031393G>A ENST00000369716.4 - 3 844 c.711C>T c.(709-711)atC>atT p.I237I ADORA3_ENST00000369717.4_Silent_p.I156I NM_020683.6 NP_065734.5 P33765 AA3R_HUMAN adenosine A3 receptor 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) AGTCCCGCTGGATGCCACACC 0.527000 7 30 0 0 0.000274275 0 0 COL1A2 1278 broad.mit.edu 37 7 94049548 94049548 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:94049548G>A ENST00000297268.6 + 35 2554 c.2083G>A c.(2083-2085)Gaa>Aaa p.E695K NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 695 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) ATTATAGGGCGAAGCTGGGGc 0.502000 HNSCC(75;0.22) 34 108 0 0 0.00209593 0 0 ZNF268 10795 broad.mit.edu 37 12 133764608 133764608 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:133764608C>T ENST00000536435.2 + 3 514 c.184C>T c.(184-186)Cta>Tta p.L62L ZNF268_ENST00000541211.2_Silent_p.L62L|ZNF268_ENST00000536899.2_Intron|ZNF268_ENST00000542711.2_Intron|CTD-2140B24.4_ENST00000540096.2_Silent_p.L227L|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000539248.2_Silent_p.L62L|ZNF268_ENST00000541009.2_Silent_p.L62L|ZNF268_ENST00000228289.5_Silent_p.L62L|ZNF268_ENST00000542986.2_Silent_p.L62L|ZNF268_ENST00000416488.1_Silent_p.L227L|ZNF268_ENST00000537565.1_Intron NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 62 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AGAGAAAGTCCTAGAGTGGCT 0.463000 5 4 0 0 0.00198382 0 0 ZFHX3 463 broad.mit.edu 37 16 72827203 72827203 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72827203G>A ENST00000268489.5 - 9 10050 c.9378C>T c.(9376-9378)ctC>ctT p.L3126L ZFHX3_ENST00000397992.5_Silent_p.L2212L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3126 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGAGGCCCGGGAGCAACACAG 0.562000 27 74 0 0 0.00106085 0 0 LLGL2 3993 broad.mit.edu 37 17 73569259 73569259 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:73569259G>A ENST00000392550.3 + 20 2742 c.2625G>A c.(2623-2625)gtG>gtA p.V875V LLGL2_ENST00000577200.1_Silent_p.V875V|LLGL2_ENST00000167462.5_Silent_p.V875V NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 875 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) ACATCCAGGTGGTCTCGCTGC 0.657000 54 6 0 0 0.000781405 0 0 LEPR 3953 broad.mit.edu 37 1 66036256 66036256 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:66036256C>T ENST00000349533.6 + 4 326 c.141C>T c.(139-141)ttC>ttT p.F47F LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Silent_p.F47F|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371059.3_Silent_p.F47F|LEPR_ENST00000344610.8_Silent_p.F47F|LEPR_ENST00000371060.3_Silent_p.F47F NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 47 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATGACTACTTCCTTTTGCCTG 0.353000 87 45 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9090497 9090497 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9090497G>A ENST00000397910.4 - 1 1521 c.1318C>T c.(1318-1320)Ctt>Ttt p.L440F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 440 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGGTCTCAAGTGGAGTCATA 0.473000 80 49 0 0 0.000781405 0 0 HCCS 3052 broad.mit.edu 37 X 11139886 11139886 + Missense_Mutation SNP G G A rs145499860 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:11139886G>A ENST00000321143.4 + 7 965 c.763G>A c.(763-765)Gta>Ata p.V255I ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.V255I|HCCS_ENST00000380763.3_Missense_Mutation_p.V255I NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 255 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 ACTTTCGGCAGTATGGGACAG 0.413000 22 1 0 0 0.000375601 0 0 MEFV 4210 broad.mit.edu 37 16 3304424 3304424 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3304424C>T ENST00000219596.1 - 2 683 c.644G>A c.(643-645)gGg>gAg p.G215E MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 215 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCCCGCCAGCCCCTGCAGCCT 0.711000 24 12 0 0 0.00047179 0 0 USP6NL 9712 broad.mit.edu 37 10 11505568 11505568 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:11505568G>A ENST00000379237.1 - 15 1753 c.1359C>T c.(1357-1359)ctC>ctT p.L453L USP6NL_ENST00000277575.5_Silent_p.L470L NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 453 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GACCCGATGGGAGTTTTCTTT 0.507000 60 47 0 0 0.000781405 0 0 KIF12 113220 broad.mit.edu 37 9 116854270 116854270 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:116854270C>T ENST00000374118.3 - 16 1650 c.1413G>A c.(1411-1413)ggG>ggA p.G471G NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 604 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 GGTTTGGAACCCCGGCCCCAC 0.667000 25 2 0 0 0.000586117 0 0 CDH20 28316 broad.mit.edu 37 18 59166487 59166487 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:59166487C>G ENST00000262717.4 + 3 713 c.315C>G c.(313-315)atC>atG p.I105M CDH20_ENST00000538374.1_Missense_Mutation_p.I105M|CDH20_ENST00000536675.2_Missense_Mutation_p.I105M Q9HBT6 CAD20_HUMAN cadherin 20, type 2 105 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GTGCTGGCATCGTGTTTACCA 0.517000 13 30 0 0 0.000422831 0 0 TRRAP 8295 broad.mit.edu 37 7 98575900 98575900 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:98575900C>T ENST00000359863.4 + 56 8640 c.8431C>T c.(8431-8433)Cct>Tct p.P2811S TRRAP_ENST00000355540.3_Missense_Mutation_p.P2793S|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2793S NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2811 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TAACGCCTCCCCTGCTATTTT 0.418000 20 119 0 0 0.00121646 0 0 CXCR3 2833 broad.mit.edu 37 X 70836566 70836566 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:70836566C>T ENST00000373691.4 - 2 1060 c.897G>A c.(895-897)cgG>cgA p.R299R CXCR3_ENST00000373693.3_Silent_p.R252R NM_001142797.1 NP_001136269.1 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 252 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) GCCGCATGGCCCGCAGGCGCC 0.662000 5 1 0 0 0.00116845 0 0 SLC16A13 201232 broad.mit.edu 37 17 6942127 6942127 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:6942127G>T ENST00000308027.6 + 3 1308 c.1000G>T c.(1000-1002)Ggg>Tgg p.G334W NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 334 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 TGAACTAATAGGGACTAGAAG 0.602000 11 349 1.49906e-05 7.1439e-05 0.000219431 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3141587 3141587 + Silent SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3141587G>T ENST00000252463.2 - 4 663 c.576C>A c.(574-576)acC>acA p.T192T ZSCAN10_ENST00000538082.2_Silent_p.T110T|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 192 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CATCCTCAAAGGTCAGGCACT 0.527000 38 29 5.48756e-27 2.65487e-26 0.000589545 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142481149 142481149 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142481149G>A ENST00000603901.1 + 0 223 NR_001296.3 GAGACTGGGAGAGCACAATAT 0.532000 9 0 0 0 0.000274275 0 0 SPATA5 166378 broad.mit.edu 37 4 124177183 124177183 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:124177183C>T ENST00000274008.3 + 15 2422 c.2353C>T c.(2353-2355)Cct>Tct p.P785S NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 785 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 TTTGATGCGGCCTGGAAGAAT 0.408000 20 28 0 0 0.000586117 0 0 DLEC1 9940 broad.mit.edu 37 3 38101301 38101301 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38101301G>A ENST00000308059.6 + 3 652 c.631G>A c.(631-633)Gat>Aat p.D211N DLEC1_ENST00000346219.3_Missense_Mutation_p.D211N|DLEC1_ENST00000452631.2_Missense_Mutation_p.D211N Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 211 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CTCCCCAGAAGATTACTACAC 0.478000 61 144 0 0 0.000781405 0 0 LYZ 4069 broad.mit.edu 37 12 69742288 69742288 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:69742288G>A ENST00000261267.2 + 1 168 c.100G>A c.(100-102)Gga>Aga p.G34R LYZ_ENST00000549690.1_Missense_Mutation_p.G34R|LYZ_ENST00000548839.1_Missense_Mutation_p.G34R NM_000239.2 NP_000230.1 P61626 LYSC_HUMAN lysozyme 34 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) GAAAAGATTGGGAATGGATGG 0.473000 10 41 0 0 0.000978159 0 0 RABEP2 79874 broad.mit.edu 37 16 28925884 28925884 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:28925884G>A ENST00000358201.4 - 5 1155 c.567C>T c.(565-567)tcC>tcT p.S189S RABEP2_ENST00000544477.1_Silent_p.S118S|RABEP2_ENST00000357573.6_Silent_p.S189S NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 189 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 AGCCGTGCAGGGAAGGGGCAT 0.721000 10 9 0 0 0.00136819 0 0 HTT 3064 broad.mit.edu 37 4 3189409 3189409 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:3189409C>T ENST00000355072.5 + 39 5166 c.5021C>T c.(5020-5022)tCg>tTg p.S1674L NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1674 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTGTGGATATCGGGAATTCTG 0.403000 45 61 0 0 0.000781405 0 0 ZNF677 342926 broad.mit.edu 37 19 53740812 53740812 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53740812G>A ENST00000333952.4 - 5 1333 c.1168C>T c.(1168-1170)Ctt>Ttt p.L390F ZNF677_ENST00000598513.1_Missense_Mutation_p.L390F Q86XU0 ZN677_HUMAN zinc finger protein 677 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TGTTGGGTAAGGCTTGAACGT 0.413000 60 53 0 0 0.000781405 0 0 ACE 1636 broad.mit.edu 37 17 61557834 61557834 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:61557834C>T ENST00000290866.4 + 5 816 c.792C>T c.(790-792)cgC>cgT p.R264R ACE_ENST00000428043.1_Silent_p.R264R|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.R264R NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 264 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CACTGCATCGCCGATACGGAG 0.597000 47 39 0 0 0.000781405 0 0 DCC 1630 broad.mit.edu 37 18 50705414 50705414 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:50705414C>T ENST00000442544.2 + 9 2117 c.1501C>T c.(1501-1503)Cga>Tga p.R501* DCC_ENST00000412726.1_Nonsense_Mutation_p.R349*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R156* NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 501 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GTACACCTTTCGAGTTGTGGC 0.507000 16 22 0 0 0.000958276 0 0 TMEM215 401498 broad.mit.edu 37 9 32784861 32784861 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:32784861G>A ENST00000342743.5 + 2 1045 c.680G>A c.(679-681)gGc>gAc p.G227D NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 227 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 CAGATACAAGGCAGGTGGGAC 0.473000 33 4 0 0 0.0024448 0 0 HSCB 150274 broad.mit.edu 37 22 29139939 29139939 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:29139939C>T ENST00000216027.3 + 2 371 c.306C>T c.(304-306)caC>caT p.H102H HSCB_ENST00000398941.2_Silent_p.H102H|HSCB_ENST00000495977.1_3'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 102 J. iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 GTCTTGTCCACCCAGATTTCT 0.483000 46 105 0 0 0.000781405 0 0 C22orf29 79680 broad.mit.edu 37 22 19839296 19839296 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:19839296G>A ENST00000405640.1 - 2 1157 c.489C>T c.(487-489)ccC>ccT p.P163P GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Silent_p.P163P|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Silent_p.P163P Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 163 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) CGTCAGGCAGGGGCAGGTCCC 0.582000 35 60 0 0 0.00111076 0 0 TNS4 84951 broad.mit.edu 37 17 38652407 38652407 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:38652407G>T ENST00000254051.6 - 2 429 c.271C>A c.(271-273)Cca>Aca p.P91T NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 91 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding p.P91T(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) AGGTCCTCTGGGGTCCCCAAG 0.632000 52 8 1.78197e-24 8.61383e-24 0.000781405 1 0 MYT1 4661 broad.mit.edu 37 20 62848472 62848472 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62848472C>T ENST00000536311.1 + 11 2048 c.1684C>T c.(1684-1686)Ccc>Tcc p.P562S MYT1_ENST00000360149.4_Missense_Mutation_p.P264S|MYT1_ENST00000328439.1_Missense_Mutation_p.P562S Q01538 MYT1_HUMAN myelin transcription factor 1 562 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GAGCTACCGGCCCAACGTGGC 0.597000 24 81 0 0 0.000586117 0 0 VPS28 51160 broad.mit.edu 37 8 145649612 145649612 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145649612G>A ENST00000377348.2 - 8 531 c.442C>T c.(442-444)Cgc>Tgc p.R148C VPS28_ENST00000526054.1_Missense_Mutation_p.R148C|VPS28_ENST00000292510.4_Missense_Mutation_p.R148C|VPS28_ENST00000529182.1_Missense_Mutation_p.R148C NM_183057.1 NP_898880.1 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 homolog (S. cerevisiae) 148 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCCATGGCGCGGATCTCCAGG 0.677000 19 62 0 0 0.00188189 0 0 C2orf53 339779 broad.mit.edu 37 2 27360021 27360021 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:27360021G>A ENST00000335524.3 - 3 1702 c.1177C>T c.(1177-1179)Cct>Tct p.P393S NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 393 cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGGGCAAGGCCTGGGCTTC 0.587000 45 39 0 0 0.000781405 0 0 UBBP4 23666 broad.mit.edu 37 17 21731254 21731254 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:21731254G>A ENST00000584755.1 + 2 953 c.556G>A c.(556-558)Gaa>Aaa p.E186K UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 CCAAGATAAAGAAGGCATCCC 0.527000 28 7 0 0 0.001512 0 0 TIE1 7075 broad.mit.edu 37 1 43774700 43774700 + Silent SNP C C T rs150072485 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:43774700C>T ENST00000372476.3 + 8 1165 c.1086C>T c.(1084-1086)ttC>ttT p.F362F TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Silent_p.F7F NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 362 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AACTGGAGTTCAACTTAGAGA 0.607000 49 14 0 0 0.000781405 0 0 SFXN3 81855 broad.mit.edu 37 10 102799263 102799263 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:102799263A>G ENST00000393459.1 + 12 1360 c.887A>G c.(886-888)aAc>aGc p.N296S SFXN3_ENST00000466982.1_3'UTR|SFXN3_ENST00000224807.5_Missense_Mutation_p.N300S Q9BWM7 SFXN3_HUMAN sideroflexin 3 300 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CACATAAGCAACCTGGAACCA 0.557000 68 15 0 0 0.000781405 0 0 LPO 4025 broad.mit.edu 37 17 56344862 56344862 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56344862G>A ENST00000262290.4 + 12 2162 c.1846G>A c.(1846-1848)Gag>Aag p.E616K LPO_ENST00000543544.1_Missense_Mutation_p.E557K|LPO_ENST00000582328.1_Missense_Mutation_p.E533K|LPO_ENST00000421678.2_Missense_Mutation_p.E533K NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 616 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGCCATTGCTGAGCCGCTGGT 0.587000 35 23 0 0 0.00128727 0 0 SLC4A5 57835 broad.mit.edu 37 2 74492337 74492337 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:74492337G>A ENST00000394019.2 - 9 853 c.456C>T c.(454-456)ccC>ccT p.P152P SLC4A5_ENST00000357822.5_Silent_p.P152P|SLC4A5_ENST00000358683.4_Silent_p.P88P|SLC4A5_ENST00000346834.4_Silent_p.P152P|SLC4A5_ENST00000359484.4_Silent_p.P88P|SLC4A5_ENST00000377632.1_Silent_p.P152P|SLC4A5_ENST00000377634.4_Silent_p.P152P|SLC4A5_ENST00000423644.1_Silent_p.P152P|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 152 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGGACACGTGGGGCTTGCTCC 0.592000 63 96 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9066457 9066457 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9066457G>A ENST00000397910.4 - 3 21192 c.20989C>T c.(20989-20991)Cct>Tct p.P6997S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6999 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGGGCCAGGGATGGATGTT 0.483000 118 68 0 0 0.000781405 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554346 140554346 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140554346G>A ENST00000231137.3 + 1 2104 c.1930G>A c.(1930-1932)Gtc>Atc p.V644I NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 644 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGTGCTGGTCAAGGACAA 0.711000 22 20 0 0 0.00178596 0 0 PCLO 27445 broad.mit.edu 37 7 82544905 82544905 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82544905G>A ENST00000423517.2 - 7 12734 c.12397C>T c.(12397-12399)Cgt>Tgt p.R4133C PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCCCTCTACGAAATTCCTGT 0.408000 93 30 0 0 0.000781405 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76481971 76481971 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:76481971C>T ENST00000307431.8 + 6 983 c.598C>T c.(598-600)Ctg>Ttg p.L200L CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L200L|CNTNAP4_ENST00000478060.1_Silent_p.L176L|CNTNAP4_ENST00000476707.1_Silent_p.L204L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 201 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TCAAAAATCCCTGAGCCCAAT 0.383000 47 26 0 0 0.000781405 0 0 OR5T2 219464 broad.mit.edu 37 11 56000154 56000154 + Silent SNP G G A rs142863951 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56000154G>A ENST00000313264.4 - 1 583 c.508C>T c.(508-510)Ctg>Ttg p.L170L NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ACTGAATACAGGAGAGGGTTG 0.438000 59 74 0 0 0.000781405 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710337 140710337 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140710337G>A ENST00000517417.1 + 1 86 c.86G>A c.(85-87)gGg>gAg p.G29E PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G29E NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGGGCTGGGAATATTCAC 0.542000 31 65 0 0 0.001512 0 0 ENPEP 2028 broad.mit.edu 37 4 111397747 111397747 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:111397747C>T ENST00000265162.5 + 1 519 c.177C>T c.(175-177)caC>caT p.H59H NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 59 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CTCCTTCCCACCTGCCTTCTT 0.632000 33 45 0 0 0.000814825 0 0 OR5H14 403273 broad.mit.edu 37 3 97868918 97868918 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:97868918C>T ENST00000437310.1 + 1 749 c.689C>T c.(688-690)tCt>tTt p.S230F NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 AAAAAGAAGTCTGTCAAAGGT 0.378000 24 25 0 0 0.00127121 0 0 RSAD1 55316 broad.mit.edu 37 17 48562205 48562205 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48562205C>T ENST00000258955.2 + 9 1397 c.1312C>T c.(1312-1314)Cct>Tct p.P438S NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 438 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) AACCCCCTCCCCTGTGCCAGG 0.577000 15 11 0 0 0.000422831 0 0 DEFB127 140850 broad.mit.edu 37 20 138224 138224 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:138224G>A ENST00000382388.3 + 1 114 c.39G>A c.(37-39)caG>caA p.Q13Q NM_139074.3 NP_620713.1 Q9H1M4 DB127_HUMAN defensin, beta 127 13 defense response to bacterium|innate immune response extracellular region NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) TGCTGTTCCAGAAACCCACAG 0.473000 52 30 0 0 0.000781405 0 0 GBX2 2637 broad.mit.edu 37 2 237074669 237074669 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:237074669G>A ENST00000306318.4 - 2 1332 c.935C>T c.(934-936)tCc>tTc p.S312F GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR NM_001485.2 NP_001476.2 P52951 GBX2_HUMAN gastrulation brain homeobox 2 312 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) CCCTGTCTTGGAATTGGCATT 0.577000 54 38 0 0 0.000781405 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30722746 30722746 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:30722746C>T ENST00000215790.7 - 1 289 c.125G>A c.(124-126)gGg>gAg p.G42E TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.G42E NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 42 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CGAGTCAGACCCGAGAGAGCT 0.741000 20 50 0 0 0.000878237 0 0 SNHG14 104472715 broad.mit.edu 37 15 25444446 25444446 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:25444446G>A ENST00000424208.1 + 0 1719 SNHG14_ENST00000424333.1_RNA NR_003305.1 TGGGCCCAATGGACCCAGGCC 0.597000 7 15 0 0 0.00198382 0 0 LDHC 3948 broad.mit.edu 37 11 18472617 18472617 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18472617C>T ENST00000541669.1 + 8 1053 c.942C>T c.(940-942)gcC>gcT p.A314A LDHC_ENST00000537486.1_3'UTR|LDHC_ENST00000536880.1_Silent_p.A300A|LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000535809.1_3'UTR|LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000280704.4_Silent_p.A314A P07864 LDHC_HUMAN lactate dehydrogenase C 314 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) AGGAGGAGGCCCTTTTCAAGA 0.368000 57 44 0 0 0.000781405 0 0 LMNA 4000 broad.mit.edu 37 1 156105073 156105073 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:156105073C>T ENST00000368300.4 + 5 1118 c.906C>T c.(904-906)ctC>ctT p.L302L LMNA_ENST00000448611.2_Silent_p.L190L|LMNA_ENST00000347559.2_Silent_p.L302L|LMNA_ENST00000392353.3_Silent_p.L221L|LMNA_ENST00000368297.1_Silent_p.L221L|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368301.2_Silent_p.L302L|LMNA_ENST00000473598.2_Silent_p.L203L|LMNA_ENST00000368299.3_Silent_p.L302L|LMNA_ENST00000361308.4_Silent_p.L302L NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 302 Coil 2.|Rod. L -> P (in MDCL). cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) TCGACAGCCTCTCTGCCCAGC 0.652000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 40 44 0 0 0.00170553 0 0 LMTK3 114783 broad.mit.edu 37 19 49000740 49000740 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49000740C>T ENST00000600059.1 - 11 3813 c.3586G>A c.(3586-3588)Gac>Aac p.D1196N LMTK3_ENST00000270238.3_Missense_Mutation_p.D1225N lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) TTGGGGGGGTCCCCGTCTCCG 0.711000 11 18 0 0 0.00136819 0 0 GAD2 2572 broad.mit.edu 37 10 26508071 26508071 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:26508071C>T ENST00000376261.3 + 4 889 c.386C>T c.(385-387)tCa>tTa p.S129L GAD2_ENST00000376248.1_Missense_Mutation_p.S15L|GAD2_ENST00000259271.3_Missense_Mutation_p.S129L NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 129 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TTCGATAGATCAACCAAAGTG 0.403000 38 117 0 0 0.000953801 0 0 PLXDC2 84898 broad.mit.edu 37 10 20500617 20500617 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:20500617C>T ENST00000377252.3 + 10 1922 c.1081C>T c.(1081-1083)Cgt>Tgt p.R361C PLXDC2_ENST00000377242.3_Missense_Mutation_p.R312C|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 361 PSI. integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TGGATTTGATCGTCATCGGCA 0.438000 32 27 0 0 0.00195071 0 0 LRP5L 91355 broad.mit.edu 37 22 25755850 25755850 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:25755850G>A ENST00000444995.3 - 4 910 c.210C>T c.(208-210)atC>atT p.I70I LRP5L_ENST00000402859.2_Silent_p.I70I|LRP5L_ENST00000402785.2_Silent_p.I70I A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like 70 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 CTGACACCAGGATCTTGTGGG 0.612000 58 118 0 0 0.000781405 0 0 SGCZ 137868 broad.mit.edu 37 8 14181688 14181688 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:14181688G>A ENST00000382080.1 - 3 975 c.260C>T c.(259-261)aCc>aTc p.T87I SGCZ_ENST00000421524.2_Intron NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 74 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TCCCTTCTTGGTGACTCTCAG 0.368000 22 20 0 0 0.000878237 0 0 HIF3A 64344 broad.mit.edu 37 19 46828875 46828875 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:46828875G>T ENST00000339613.2 + 11 1506 c.1251G>T c.(1249-1251)gaG>gaT p.E417D HIF3A_ENST00000377670.4_Missense_Mutation_p.E473D|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.E404D|HIF3A_ENST00000244303.6_Missense_Mutation_p.E404D|HIF3A_ENST00000420102.2_Missense_Mutation_p.E422D|HIF3A_ENST00000300862.3_Missense_Mutation_p.E471D|HIF3A_ENST00000472815.1_Missense_Mutation_p.E404D Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGGCAGTGGAGACAGATTTAG 0.512000 39 55 5.59293e-11 2.6832e-10 0.00148497 1 0 RND1 27289 broad.mit.edu 37 12 49258632 49258632 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:49258632C>T ENST00000309739.5 - 2 272 c.142G>A c.(142-144)Gaa>Aaa p.E48K NM_014470.3 NP_055285.1 Q92730 RND1_HUMAN Rho family GTPase 1 48 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1) 10 GTGTAATTTTCGAACACGGTG 0.517000 48 67 0 0 0.000781405 0 0 PLD2 5338 broad.mit.edu 37 17 4711584 4711584 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:4711584C>T ENST00000263088.6 + 4 387 c.256C>T c.(256-258)Ctg>Ttg p.L86L PLD2_ENST00000572940.1_Silent_p.L86L NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 86 PX. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) AACCTGCACTCTGTATTCTGT 0.562000 44 382 0 0 0.000781405 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745953 77745953 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:77745953C>T ENST00000409088.3 - 3 1456 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K LRRTM4_ENST00000409093.1_Missense_Mutation_p.E348K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.E349K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.E349K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E348K NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 348 LRRCT. integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CTAACCTTTTCACCCTGGATG 0.433000 7 14 0 0 0.00198382 0 0 SPAG7 9552 broad.mit.edu 37 17 4863768 4863768 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:4863768G>A ENST00000573366.1 - 3 933 c.75C>T c.(73-75)atC>atT p.I25I SPAG7_ENST00000575142.1_Silent_p.I65I|SPAG7_ENST00000206020.3_Silent_p.I76I O75391 SPAG7_HUMAN sperm associated antigen 7 76 nucleus nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 TGCTCCTCTCGATCTTGTTCA 0.552000 205 10 0 0 0.000781405 0 0 SPAM1 6677 broad.mit.edu 37 7 123599999 123599999 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:123599999C>T ENST00000439500.1 + 6 2119 c.1506C>T c.(1504-1506)atC>atT p.I502I SPAM1_ENST00000402183.2_Silent_p.I502I|SPAM1_ENST00000340011.5_Intron|SPAM1_ENST00000223028.7_Silent_p.I502I|SPAM1_ENST00000460182.1_Silent_p.I502I NM_001174045.1|NM_001174046.1 NP_001167516.1|NP_001167517.1 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 502 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TGTTTCTTATCATTTCTTCTG 0.353000 20 72 0 0 0.000375601 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50188919 50188919 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:50188919C>T ENST00000335999.6 - 8 2925 c.2724G>A c.(2722-2724)gaG>gaA p.E908E NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 904 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GGTGCTTGACCTCGGCGCCAG 0.642000 15 25 0 0 0.000566183 0 0 C2orf53 339779 broad.mit.edu 37 2 27360020 27360020 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:27360020G>A ENST00000335524.3 - 3 1703 c.1178C>T c.(1177-1179)cCt>cTt p.P393L NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 393 p.P393H(1) cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCAGGGCAAGGCCTGGGCTT 0.582000 45 38 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9070567 9070567 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9070567C>T ENST00000397910.4 - 3 17082 c.16879G>A c.(16879-16881)Gaa>Aaa p.E5627K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5629 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGCTGGTTTCTTCCACAGGG 0.532000 16 12 0 0 0.000422831 0 0 APOB 338 broad.mit.edu 37 2 21227980 21227980 + Silent SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:21227980G>T ENST00000233242.1 - 26 11887 c.11760C>A c.(11758-11760)acC>acA p.T3920T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3920 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGAACTGTACGGTTGAGCTGC 0.378000 9 432 0.000673444 0.00319079 0.000673444 1 0 OR1C1 26188 broad.mit.edu 37 1 247921190 247921190 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247921190G>A ENST00000408896.2 - 1 792 c.519C>T c.(517-519)atC>atT p.I173I NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AATGATGGATGATATTGGAGG 0.473000 27 14 0 0 0.000720815 0 0 E2F7 144455 broad.mit.edu 37 12 77423987 77423987 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:77423987G>A ENST00000322886.7 - 10 1743 c.1508C>T c.(1507-1509)tCt>tTt p.S503F E2F7_ENST00000416496.2_Missense_Mutation_p.S503F NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 503 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CTGAGCAACAGAAAATACTGG 0.522000 53 77 0 0 0.000781405 0 0 IL36B 27177 broad.mit.edu 37 2 113786584 113786584 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:113786584C>T ENST00000259213.4 - 4 300 c.193G>A c.(193-195)Gga>Aga p.G65R IL36B_ENST00000327407.2_Missense_Mutation_p.G65R NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 65 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 CCCTTGATTCCCAGGTAAACC 0.418000 45 50 0 0 0.000589545 0 0 SORCS2 57537 broad.mit.edu 37 4 7741963 7741963 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:7741963G>A ENST00000507866.2 + 27 3561 c.3452G>A c.(3451-3453)cGa>cAa p.R1151Q SORCS2_ENST00000329016.9_Missense_Mutation_p.R994Q NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 1151 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 ATCAACTCCCGAGAGATGCAC 0.617000 8 6 0 0 0.000442599 0 0 MICALCL 84953 broad.mit.edu 37 11 12315811 12315811 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:12315811G>A ENST00000256186.2 + 3 1124 c.833G>A c.(832-834)cGa>cAa p.R278Q NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 278 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) AATGCCATCCGAAGGTCTCTA 0.607000 34 21 0 0 0.000491102 0 0 BCL11B 64919 broad.mit.edu 37 14 99641447 99641447 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:99641447C>T ENST00000345514.2 - 3 1779 c.1513G>A c.(1513-1515)Gtc>Atc p.V505I BCL11B_ENST00000443726.2_Missense_Mutation_p.V382I|BCL11B_ENST00000357195.3_Missense_Mutation_p.V576I NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 576 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) gcgcccgggaccccgggcACC 0.716000 T TLX3 T-ALL 7 12 0 0 0.000157383 0 0 NCCRP1 342897 broad.mit.edu 37 19 39691087 39691087 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:39691087G>A ENST00000339852.4 + 5 672 c.650G>A c.(649-651)cGa>cAa p.R217Q NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 217 FBA. protein catabolic process kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 GTGGCCCCCCGAACTTCTGGG 0.667000 38 44 0 0 0.000509022 0 0 SAP130 79595 broad.mit.edu 37 2 128774043 128774043 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:128774043G>A ENST00000357702.5 - 4 636 c.505C>T c.(505-507)Cca>Tca p.P169S SAP130_ENST00000259234.6_Missense_Mutation_p.P143S|SAP130_ENST00000259235.3_Missense_Mutation_p.P169S NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 169 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) ACCTGCCCTGGAACCTTGGGG 0.527000 35 37 0 0 0.000953801 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939636 12939636 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:12939636C>T ENST00000235349.5 - 4 1236 c.1166G>A c.(1165-1167)gGa>gAa p.G389E NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 389 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATGGGATTTCCACAGAAGCT 0.522000 222 29 0 0 0.000781405 0 0 CDH8 1006 broad.mit.edu 37 16 61854962 61854962 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:61854962C>T ENST00000577390.1 - 6 1845 c.891G>A c.(889-891)agG>agA p.R297R CDH8_ENST00000299345.6_Silent_p.R297R|CDH8_ENST00000584337.1_Silent_p.R297R|CDH8_ENST00000577730.1_Silent_p.R297R NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 297 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGGCCTTCACCCTTCCTATTG 0.423000 23 21 0 0 0.000375601 0 0 MUC16 94025 broad.mit.edu 37 19 9075413 9075413 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9075413G>A ENST00000397910.4 - 3 12236 c.12033C>T c.(12031-12033)tcC>tcT p.S4011S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4013 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGTCAAGAAGGAATTAGGCT 0.478000 15 53 0 0 0.00074312 0 0 CSF2RB 1439 broad.mit.edu 37 22 37333949 37333949 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37333949G>A ENST00000262825.5 + 14 2334 c.2117G>A c.(2116-2118)gGg>gAg p.G706E CSF2RB_ENST00000536485.1_Missense_Mutation_p.G647E|CSF2RB_ENST00000403662.3_Missense_Mutation_p.G700E|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G706E NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 700 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) ATGAGCTCTGGGGACACTGAG 0.617000 42 49 0 0 0.000509022 0 0 SLC5A3 6526 broad.mit.edu 37 21 35467678 35467678 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:35467678G>T ENST00000381151.3 + 2 693 c.181G>T c.(181-183)Ggg>Tgg p.G61W MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 61 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 GAGCAATATTGGGAGTGAGCA 0.502000 11 617 0.00185496 0.00877794 0.00185496 1 0 CD163 9332 broad.mit.edu 37 12 7639971 7639971 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7639971G>A ENST00000359156.4 - 8 2236 c.2034C>T c.(2032-2034)gcC>gcT p.A678A CD163_ENST00000541972.1_Silent_p.A666A|CD163_ENST00000432237.2_Silent_p.A678A|CD163_ENST00000396620.3_Silent_p.A711A NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 678 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGATTACAGAGGCCACTTGCT 0.483000 12 16 0 0 0.00136819 0 0 DOCK3 1795 broad.mit.edu 37 3 51265502 51265502 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:51265502G>A ENST00000266037.9 + 17 1653 c.1630G>A c.(1630-1632)Gag>Aag p.E544K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 544 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGATATTCACGAGCTTTATGT 0.478000 32 0 0 0 0.00058488 0 0 OR4C3 256144 broad.mit.edu 37 11 48346987 48346987 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48346987C>T ENST00000319856.4 + 1 516 c.495C>T c.(493-495)ctC>ctT p.L165L NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 CCAGGCATCTCTGTGCCATGC 0.537000 19 63 0 0 0.00121646 0 0 CSMD3 114788 broad.mit.edu 37 8 113529379 113529379 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:113529379C>T ENST00000297405.5 - 28 4884 c.4640G>A c.(4639-4641)gGg>gAg p.G1547E CSMD3_ENST00000352409.3_Missense_Mutation_p.G1547E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1507E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1443E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1547 Sushi 8. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AACAGTGTCCCCAGGTTCTCT 0.478000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 30 45 0 0 0.00209593 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39427956 39427956 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:39427956C>T ENST00000216099.7 + 6 1427 c.1020C>T c.(1018-1020)tcC>tcT p.S340S APOBEC3D_ENST00000427494.2_Silent_p.S156S|APOBEC3D_ENST00000381568.4_Silent_p.S340S NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 340 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) AAGGGGCCTCCGTGAAGATCA 0.612000 55 46 0 0 0.000781405 0 0 KLK9 284366 broad.mit.edu 37 19 51509897 51509897 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51509897G>A ENST00000376832.4 - 3 316 c.283C>T c.(283-285)Ccc>Tcc p.P95S KLK9_ENST00000250366.6_Missense_Mutation_p.P95S|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Missense_Mutation_p.P95S NM_012315.1 NP_036447.1 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 95 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CCAGGGTGGGGGAAGAAGTCC 0.602000 13 62 0 0 0.000219431 0 0 ABCB1 5243 broad.mit.edu 37 7 87175237 87175237 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:87175237C>T ENST00000265724.3 - 16 2246 c.1829G>A c.(1828-1830)gGa>gAa p.G610E ABCB1_ENST00000543898.1_Missense_Mutation_p.G546E NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 610 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATCATGATTTCCTTTCTCCAC 0.398000 18 87 0 0 0.000566183 0 0 NOBOX 135935 broad.mit.edu 37 7 144098256 144098256 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:144098256G>A ENST00000467773.1 - 4 726 c.727C>T c.(727-729)Cac>Tac p.H243Y NOBOX_ENST00000483238.1_Missense_Mutation_p.H243Y|NOBOX_ENST00000223140.5_Missense_Mutation_p.H158Y NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 243 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) TTGGCCAGGTGGCAGGGCCCC 0.602000 21 7 0 0 0.00121646 0 0 POTEH 23784 broad.mit.edu 37 22 16266988 16266988 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:16266988C>T ENST00000343518.6 - 9 1512 c.1461G>A c.(1459-1461)agG>agA p.R487R NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 487 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTCTGCTTTTCCTTGGTGGAA 0.433000 45 216 0 0 0.000781405 0 0 LSM14B 149986 broad.mit.edu 37 20 60701392 60701392 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:60701392C>T ENST00000253001.4 + 3 530 c.324C>T c.(322-324)ttC>ttT p.F108F LSM14B_ENST00000370915.1_Silent_p.F108F|LSM14B_ENST00000279068.6_Silent_p.F108F Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 108 multicellular organismal development|regulation of translation ribonucleoprotein complex endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CCTCGCCCTTCCAGCCGCACG 0.672000 24 46 0 0 0.001512 0 0 SERPINA5 5104 broad.mit.edu 37 14 95053780 95053780 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95053780G>A ENST00000329597.7 + 3 291 c.81G>A c.(79-81)atG>atA p.M27I SERPINA5_ENST00000554276.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000554866.1_Missense_Mutation_p.M27I|SERPINA5_ENST00000553780.1_Missense_Mutation_p.M27I NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 27 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.M27I(1) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CCCGGGAGATGAAGAAGAGAG 0.612000 29 58 0 0 0.00127121 0 0 HRNR 388697 broad.mit.edu 37 1 152187684 152187684 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152187684C>T ENST00000368801.2 - 3 6496 c.6421G>A c.(6421-6423)Gga>Aga p.G2141R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2141 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATGACTGTCCTGATCTAGAG 0.587000 87 1173 0 0 0.000781405 0 0 ZNF671 79891 broad.mit.edu 37 19 58234583 58234583 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58234583C>T ENST00000317398.6 - 2 359 c.265_splice c.e2+1 p.L88_splice ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_Intron|AC003006.7_ENST00000599221.1_Intron NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 88 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGACCTTACCCAGTGAGGCTA 0.468000 61 54 0 0 0.000781405 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278102 36278102 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36278102C>T ENST00000007510.4 + 21 2779 c.2635C>T c.(2635-2637)Ccc>Tcc p.P879S ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P718S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P743S O14559 RHG33_HUMAN Rho GTPase activating protein 33 879 Poly-Pro. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GCCACCCCCTCCCCTGTCTCT 0.662000 24 16 0 0 0.000878237 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24942241 24942241 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:24942241G>A ENST00000289968.6 - 19 2448 c.2379C>T c.(2377-2379)acC>acT p.T793T ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.T715T NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 793 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GTCTCGGTAAGGTTCCAGCAT 0.632000 26 55 0 0 0.000720815 0 0 NEK4 6787 broad.mit.edu 37 3 52800230 52800230 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:52800230G>A ENST00000233027.5 - 3 724 c.522C>T c.(520-522)agC>agT p.S174S NEK4_ENST00000535191.1_Silent_p.S85S|NEK4_ENST00000383721.4_Silent_p.S174S NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 174 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) ACAATTCAGGGCTCATGTAGT 0.463000 22 4 0 0 0.00106085 0 0 KIFC2 90990 broad.mit.edu 37 8 145692696 145692696 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145692696C>T ENST00000301332.2 + 4 818 c.441C>T c.(439-441)gcC>gcT p.A147A NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 147 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CTCAGCCAGCCCCTCGGGTCC 0.622000 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 104 59 0 0 0.000781405 0 0 TESPA1 9840 broad.mit.edu 37 12 55356658 55356658 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:55356658C>T ENST00000524622.1 - 7 1271 c.610G>A c.(610-612)Gaa>Aaa p.E204K TESPA1_ENST00000449076.1_Missense_Mutation_p.E342K|TESPA1_ENST00000531122.1_Missense_Mutation_p.E204K|TESPA1_ENST00000532804.1_Missense_Mutation_p.E204K|TESPA1_ENST00000316577.8_Missense_Mutation_p.E342K NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 342 ACAGGATCTTCCTGTGAGAAT 0.488000 19 14 0 0 0.000958276 0 0 IAH1 285148 broad.mit.edu 37 2 9621462 9621462 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:9621462C>T ENST00000497473.1 + 4 368 c.331C>T c.(331-333)Cta>Tta p.L111L IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000470914.1_5'UTR|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000545602.1_5'UTR NM_001039613.1 NP_001034702.1 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 111 lipid catabolic process hydrolase activity, acting on ester bonds breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CGCTGCGAACCTAAAGAGCAT 0.488000 30 20 0 0 0.00178596 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763703 140763703 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140763703G>A ENST00000518325.1 + 1 1237 c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGGACCGGGAAACACTCTC 0.413000 5 13 0 0 0.00116845 0 0 SLC25A36 55186 broad.mit.edu 37 3 140695236 140695236 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:140695236C>T ENST00000446041.2 + 7 1099 c.874C>T c.(874-876)Cca>Tca p.P292S SLC25A36_ENST00000453248.2_Missense_Mutation_p.P267S|SLC25A36_ENST00000324194.6_Missense_Mutation_p.P293S NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 293 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 GAGACAGATTCCAAACACAGC 0.398000 46 49 0 0 0.000781405 0 0 BEST1 7439 broad.mit.edu 37 11 61727035 61727035 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:61727035C>T ENST00000526988.1 + 7 979 c.818C>T c.(817-819)tCg>tTg p.S273L BEST1_ENST00000378042.3_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378043.4_Silent_p.V311V|BEST1_ENST00000449131.2_Silent_p.V251V|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron O76090 BEST1_HUMAN bestrophin 1 0 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 ACTGGATTGTCGACAGGAATT 0.537000 24 16 0 0 0.00047179 0 0 TRAV7 28686 broad.mit.edu 37 14 22251480 22251480 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:22251480G>A ENST00000390429.3 + 0 97 TCATTTTCTGGGACCCCAGCA 0.453000 10 9 0 0 0.000673444 0 0 CHPF 79586 broad.mit.edu 37 2 220406679 220406679 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:220406679G>A ENST00000243776.6 - 2 795 c.547C>T c.(547-549)Cac>Tac p.H183Y CHPF_ENST00000373891.2_Missense_Mutation_p.H183Y|CHPF_ENST00000535926.1_Missense_Mutation_p.H21Y NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 183 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TCCAGCAGGTGGCGCAGCGCC 0.687000 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 15 0 0 0.00185496 0 0 HECTD4 283450 broad.mit.edu 37 12 112688077 112688077 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:112688077G>A ENST00000550722.1 - 25 3778 c.3383C>T c.(3382-3384)cCc>cTc p.P1128L HECTD4_ENST00000430131.2_Missense_Mutation_p.P852L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P1102L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GACATCAGAGGGGTAGGTGAA 0.547000 54 41 0 0 0.000781405 0 0 SERPINI2 5276 broad.mit.edu 37 3 167189520 167189520 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:167189520G>A ENST00000476257.1 - 3 401 c.103C>T c.(103-105)Caa>Taa p.Q35* SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.Q35*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.Q35*|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.Q35* O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 35 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 GAAACCTCTTGATAAAGATCC 0.393000 92 89 0 0 0.000781405 0 0 LILRA2 11027 broad.mit.edu 37 19 55086256 55086256 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55086256G>A ENST00000251377.3 + 5 544 c.411G>A c.(409-411)ggG>ggA p.G137G LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.G137G|LILRA2_ENST00000391737.1_Silent_p.G125G|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Silent_p.G137G|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CCTTAGGAGGGAACGTGACCC 0.557000 25 121 0 0 0.000586117 0 0 ADD2 119 broad.mit.edu 37 2 70933562 70933562 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:70933562C>T ENST00000430656.1 - 2 324 c.27G>A c.(25-27)gcG>gcA p.A9A ADD2_ENST00000413157.2_5'UTR|ADD2_ENST00000473232.1_5'UTR|ADD2_ENST00000355733.3_5'UTR|ADD2_ENST00000407644.2_5'UTR|ADD2_ENST00000264436.3_5'UTR NM_001185055.1 NP_001171984.1 P35612 ADDB_HUMAN adducin 2 (beta) 0 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GTTTGCAATTCGCTCCTGGAA 0.612000 52 45 0 0 0.000781405 0 0 ABCA3 21 broad.mit.edu 37 16 2331154 2331154 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:2331154G>A ENST00000301732.5 - 28 4933 c.4233C>T c.(4231-4233)tgC>tgT p.C1411C ABCA3_ENST00000382381.3_Silent_p.C1353C NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1411 ABC transporter 2. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GCAGGCCGAAGCACTCCCCTT 0.627000 16 41 0 0 0.000422831 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572680 38572680 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38572680C>T ENST00000222345.6 + 3 984 c.475C>T c.(475-477)Ccc>Tcc p.P159S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 159 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCCCCGGTCCCCCGGCAGGGC 0.711000 22 21 0 0 0.000375601 0 0 CNGA3 1261 broad.mit.edu 37 2 99013442 99013442 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:99013442G>A ENST00000393504.1 + 8 2226 c.1809G>A c.(1807-1809)cgG>cgA p.R603R CNGA3_ENST00000409937.1_Silent_p.R607R|CNGA3_ENST00000436404.2_Silent_p.R585R|CNGA3_ENST00000272602.2_Silent_p.R603R NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 603 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 AGAAAGGACGGCAGATCCTGA 0.602000 18 15 0 0 0.00074312 0 0 DSG4 147409 broad.mit.edu 37 18 28972276 28972276 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:28972276C>T ENST00000359747.4 + 8 1007 c.978C>T c.(976-978)acC>acT p.T326T RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.T326T|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 326 Cadherin 3. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATCCACAAACCAATGAAGGCA 0.333000 17 27 0 0 0.00152264 0 0 LEPR 3953 broad.mit.edu 37 1 66081851 66081851 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:66081851C>T ENST00000349533.6 + 15 2341 c.2156C>T c.(2155-2157)tCa>tTa p.S719L LEPR_ENST00000371058.1_Missense_Mutation_p.S719L|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.S719L|LEPR_ENST00000344610.8_Missense_Mutation_p.S719L|LEPR_ENST00000371060.3_Missense_Mutation_p.S719L NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 719 Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GCCATCAATTCAATTGGTGCT 0.403000 8 46 0 0 0.000442599 0 0 UMOD 7369 broad.mit.edu 37 16 20355394 20355394 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20355394G>A ENST00000396134.2 - 7 1505 c.1382C>T c.(1381-1383)cCc>cTc p.P461L UMOD_ENST00000570689.1_Missense_Mutation_p.P428L|UMOD_ENST00000424589.1_Missense_Mutation_p.P461L|UMOD_ENST00000396138.4_Missense_Mutation_p.P477L|UMOD_ENST00000396142.2_Missense_Mutation_p.P428L|UMOD_ENST00000302509.4_Missense_Mutation_p.P428L NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 428 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CATGTCCAGGGGGTAGGAGCA 0.532000 20 34 0 0 0.00152264 0 0 ABCA4 24 broad.mit.edu 37 1 94476459 94476459 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:94476459G>A ENST00000370225.3 - 40 5697 c.5611C>T c.(5611-5613)Cac>Tac p.H1871Y ABCA4_ENST00000535881.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.H141Y|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1871 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AGGTCCCAGTGGAACGGATTT 0.597000 43 30 0 0 0.000781405 0 0 PRSS37 136242 broad.mit.edu 37 7 141536973 141536973 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141536973C>T ENST00000350549.3 - 4 877 c.506G>A c.(505-507)gGa>gAa p.G169E PRSS37_ENST00000438520.1_Missense_Mutation_p.G169E NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 169 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 GTGGCTTTTTCCTTGTTCTGT 0.433000 23 115 0 0 0.000375601 0 0 C11orf80 79703 broad.mit.edu 37 11 66571646 66571646 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:66571646G>A ENST00000360962.4 + 9 1030 c.1023G>A c.(1021-1023)agG>agA p.R341R C11orf80_ENST00000525449.2_Silent_p.R186R|C11orf80_ENST00000527634.1_Silent_p.R123R|C11orf80_ENST00000540737.1_Silent_p.R176R|C11orf80_ENST00000532565.2_Silent_p.R122R|C11orf80_ENST00000346672.4_Silent_p.R187R NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 186 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 AGCTTAACAGGATTTCTTCAG 0.428000 17 21 0 0 0.000422831 0 0 ITPR1 3708 broad.mit.edu 37 3 4744524 4744524 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:4744524C>T ENST00000354582.6 + 36 4897 c.4547C>T c.(4546-4548)cCt>cTt p.P1516L ITPR1_ENST00000443694.2_Missense_Mutation_p.P1501L|ITPR1_ENST00000302640.8_Missense_Mutation_p.P1501L|ITPR1_ENST00000423119.2_Missense_Mutation_p.P1507L|ITPR1_ENST00000357086.4_Missense_Mutation_p.P1507L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.P1492L Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1516 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ACTCGCCAGCCTGTCTTTGTG 0.473000 8 19 0 0 0.000157383 0 0 PDE2A 5138 broad.mit.edu 37 11 72300278 72300278 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:72300278C>T ENST00000334456.5 - 12 1125 c.880G>A c.(880-882)Gga>Aga p.G294R PDE2A_ENST00000444035.2_Missense_Mutation_p.G285R|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.G287R|PDE2A_ENST00000540345.1_Missense_Mutation_p.G285R|PDE2A_ENST00000418754.2_Missense_Mutation_p.G179R NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 294 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CCCAGGCATCCTGTCAACTAG 0.572000 45 131 0 0 0.000781405 0 0 SOGA1 140710 broad.mit.edu 37 20 35444643 35444643 + Missense_Mutation SNP T T G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:35444643T>G ENST00000237536.4 - 5 1543 c.1202A>C c.(1201-1203)aAg>aCg p.K401T SOGA1_ENST00000357779.3_Missense_Mutation_p.K163T|SOGA1_ENST00000279034.5_Missense_Mutation_p.K163T|SOGA1_ENST00000456801.2_Missense_Mutation_p.K4T NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 163 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CTTAGTGAGCTTCTTGCACAT 0.567000 90 66 0 0 0.000781405 0 0 GK2 2712 broad.mit.edu 37 4 80329126 80329126 + Missense_Mutation SNP C C T rs149134428 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:80329126C>T ENST00000358842.3 - 1 246 c.229G>A c.(229-231)Gaa>Aaa p.E77K NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 77 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 ATATTCAGTTCGTCAAGTTTC 0.418000 33 36 0 0 0.0024448 0 0 KMT2D 8085 broad.mit.edu 37 12 49440416 49440416 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:49440416G>A ENST00000301067.7 - 15 4393 c.4394C>T c.(4393-4395)cCc>cTc p.P1465L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCCGCCCTTGGGGACGGTGAG 0.562000 96 101 0 0 0.000781405 0 0 NUP133 55746 broad.mit.edu 37 1 229606485 229606485 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:229606485G>C ENST00000261396.3 - 15 2009 c.1918C>G c.(1918-1920)Ctc>Gtc p.L640V NUP133_ENST00000366679.1_Missense_Mutation_p.L640V|NUP133_ENST00000537506.1_Missense_Mutation_p.L624V NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 640 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGCTCACAGAGCAACAGTCGA 0.483000 14 53 0 0 0.000566183 0 0 KLK9 284366 broad.mit.edu 37 19 51509898 51509898 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51509898G>A ENST00000376832.4 - 3 315 c.282C>T c.(280-282)ttC>ttT p.F94F KLK9_ENST00000250366.6_Silent_p.F94F|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Silent_p.F94F NM_012315.1 NP_036447.1 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 94 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CAGGGTGGGGGAAGAAGTCCG 0.607000 13 60 0 0 0.000219431 0 0 NTF3 4908 broad.mit.edu 37 12 5604142 5604142 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:5604142C>T ENST00000423158.3 + 2 1013 c.801C>T c.(799-801)atC>atT p.I267I NTF3_ENST00000331010.6_Silent_p.I254I|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 254 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CGAGAAAAATCGGAAGAACAT 0.368000 6 19 0 0 0.00116845 0 0 ANO4 121601 broad.mit.edu 37 12 101413856 101413856 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:101413856G>A ENST00000392979.3 + 8 1035 c.674G>A c.(673-675)aGa>aAa p.R225K ANO4_ENST00000392977.3_Missense_Mutation_p.R260K|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 260 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AATGCCACAAGAAGTAGAATC 0.308000 HNSCC(74;0.22) 49 42 0 0 0.000781405 0 0 COL6A5 256076 broad.mit.edu 37 3 130188260 130188260 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:130188260G>A ENST00000265379.6 + 38 7906 c.7412G>A c.(7411-7413)cGa>cAa p.R2471Q COL6A5_ENST00000432398.2_Missense_Mutation_p.R2471Q A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2471 Nonhelical region.|VWFA 10. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CAACTTGGCCGAACCCACAAG 0.393000 31 21 0 0 0.0024448 0 0 NELL1 4745 broad.mit.edu 37 11 20805360 20805360 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:20805360C>T ENST00000298925.5 + 4 556 c.403C>T c.(403-405)Cga>Tga p.R135* NELL1_ENST00000325319.5_Nonsense_Mutation_p.R107*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.R107*|NELL1_ENST00000357134.5_Nonsense_Mutation_p.R107* Q92832 NELL1_HUMAN NEL-like 1 (chicken) 107 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.R107*(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ACTGTCCATTCGAGAACTGGA 0.418000 42 22 0 0 0.00222228 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94650500 94650500 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:94650500C>T ENST00000260526.6 - 18 2219 c.2037G>A c.(2035-2037)aaG>aaA p.K679K ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 679 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CATCTGGTTCCTTTTTTGCAA 0.318000 19 74 0 0 0.000958276 0 0 AC010731.4 0 broad.mit.edu 37 2 207509180 207509180 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:207509180G>A ENST00000543490.1 + 0 395 AGGCTTCTGGGATTTTATGAT 0.493000 16 12 0 0 0.000422831 0 0 KCNRG 283518 broad.mit.edu 37 13 50589959 50589959 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:50589959G>A ENST00000360473.4 + 1 570 c.330G>A c.(328-330)gtG>gtA p.V110V TRIM13_ENST00000378182.3_3'UTR|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000312942.1_Silent_p.V110V NM_199464.2 NP_955751.1 Q8N5I3 KCNRG_HUMAN potassium channel regulator 110 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) CTGCTCTTGTGGAGGTACATT 0.438000 75 56 0 0 0.000781405 0 0 RERE 473 broad.mit.edu 37 1 8425888 8425888 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:8425888G>A ENST00000337907.3 - 14 2065 c.1431C>T c.(1429-1431)ccC>ccT p.P477P RERE_ENST00000400908.2_Silent_p.P477P|RERE_ENST00000400907.2_Silent_p.P477P|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Silent_p.P209P NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 477 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CACTGGACGGGGGTCTGGAGG 0.637000 54 2 0 0 0.000781405 0 0 ATP2C2 9914 broad.mit.edu 37 16 84456106 84456106 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:84456106C>T ENST00000416219.2 + 8 824 c.735C>T c.(733-735)atC>atT p.I245I ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.I245I O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 245 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TCAGCAACATCGTCTTCATGG 0.602000 45 24 0 0 0.000680045 0 0 OR1L4 254973 broad.mit.edu 37 9 125486328 125486328 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:125486328C>T ENST00000259466.1 + 1 60 c.60C>T c.(58-60)tcC>tcT p.S20S NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 GCCTCTCTTCCAACCCTAAGC 0.507000 5 95 0 0 0.000978159 0 0 DNAH8 1769 broad.mit.edu 37 6 38813486 38813486 + Nonsense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:38813486C>A ENST00000359357.3 + 34 4585 c.4331C>A c.(4330-4332)tCg>tAg p.S1444* DNAH8_ENST00000449981.2_Nonsense_Mutation_p.S1661*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.S1444* dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGAACCGAATCGGGAGAAATT 0.398000 5 85 0.00198382 0.00936454 0.00198382 1 0 TRDV1 28518 broad.mit.edu 37 14 22564750 22564750 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:22564750C>T ENST00000390452.2 + 0 219 AGATGATTTTCCTTATTCGCC 0.428000 48 28 0 0 0.000781405 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49667799 49667799 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:49667799A>T ENST00000249601.4 - 5 883 c.587T>A c.(586-588)aTg>aAg p.M196K ARHGAP22_ENST00000417247.2_Missense_Mutation_p.M106K|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.M212K|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.M87K|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.M106K|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.M202K NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 196 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTGGCCTGGCATGCGGAACAG 0.642000 66 45 0 0 0.000781405 0 0 MROH5 389690 broad.mit.edu 37 8 142505528 142505528 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:142505528C>T ENST00000430863.1 - 0 398 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TGATGATGTACTTCAAGTGGA 0.522000 49 87 0 0 0.000781405 0 0 OR56B4 196335 broad.mit.edu 37 11 6129374 6129374 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:6129374C>T ENST00000316529.3 + 1 461 c.366C>T c.(364-366)ctC>ctT p.L122L RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCATCTTTCTCTGCATGGCAG 0.483000 31 40 0 0 0.00058488 0 0 GABRB2 2561 broad.mit.edu 37 5 160721436 160721436 + Splice_Site SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:160721436C>A ENST00000274547.2 - 11 1409 c.e11-1 GABRB2_ENST00000517901.1_Splice_Site|GABRB2_ENST00000353437.6_Splice_Site|GABRB2_ENST00000393959.1_Splice_Site|GABRB2_ENST00000517547.1_Splice_Site|GABRB2_ENST00000520240.1_Splice_Site NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGGGGTCCATCTGCAAGGGAA 0.448000 33 17 9.04072e-19 4.35733e-18 0.00058488 1 0 ADCY1 107 broad.mit.edu 37 7 45743207 45743207 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:45743207C>T ENST00000297323.7 + 16 2602 c.2580C>T c.(2578-2580)taC>taT p.Y860Y NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 860 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 integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AGGACCTCTACTACCAGTCCT 0.582000 31 36 0 0 0.00178596 0 0 STAB2 55576 broad.mit.edu 37 12 104048373 104048373 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:104048373A>T ENST00000388887.2 + 13 1652 c.1448A>T c.(1447-1449)aAg>aTg p.K483M NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 483 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GGCAAAAAGAAGGTAAAAATT 0.393000 32 19 0 0 0.000692331 0 0 ZNF341 84905 broad.mit.edu 37 20 32349802 32349802 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:32349802C>T ENST00000375200.1 + 8 1528 c.1163C>T c.(1162-1164)tCt>tTt p.S388F ZNF341_ENST00000342427.2_Missense_Mutation_p.S381F Q9BYN7 ZN341_HUMAN zinc finger protein 341 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 TCTCGAAACTCTGTGACCGTA 0.572000 59 153 0 0 0.000781405 0 0 CENPF 1063 broad.mit.edu 37 1 214816005 214816005 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:214816005T>A ENST00000366955.3 + 12 4492 c.4324T>A c.(4324-4326)Tta>Ata p.L1442I NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1538 2 X 96 AA approximate tandem repeats. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGTTGACTCATTAAAGGCCGA 0.423000 25 13 0 0 0.000586117 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181252 19181252 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:19181252C>T ENST00000375371.3 - 3 733 c.712G>A c.(712-714)Gag>Aag p.E238K RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 238 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGCAGCGTCTCCTGGAAGGCG 0.642000 16 13 0 0 0.000422831 0 0 CAPN6 827 broad.mit.edu 37 X 110507123 110507123 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:110507123C>T ENST00000324068.1 - 2 209 c.42G>A c.(40-42)caG>caA p.Q14Q NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 14 microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GCTTCAGTTCCTGGTATTTCT 0.408000 35 6 0 0 0.000953801 0 0 ATG7 10533 broad.mit.edu 37 3 11350518 11350518 + Missense_Mutation SNP C C T rs143294564 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:11350518C>T ENST00000354449.3 + 5 419 c.394C>T c.(394-396)Ctc>Ttc p.L132F ATG7_ENST00000354956.5_Missense_Mutation_p.L132F|ATG7_ENST00000446450.2_Missense_Mutation_p.L132F NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 132 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 CAACAAGTTCCTCCTCTTGAC 0.473000 58 47 0 0 0.000781405 0 0 SCAF1 58506 broad.mit.edu 37 19 50156105 50156105 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50156105C>T ENST00000360565.3 + 7 2583 c.2459C>T c.(2458-2460)tCa>tTa p.S820L NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 820 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TCAGGCTCTTCATCCTCGTCG 0.657000 8 39 0 0 0.000442599 0 0 DDX42 11325 broad.mit.edu 37 17 61886219 61886219 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:61886219C>G ENST00000578681.1 + 11 1664 c.1063C>G c.(1063-1065)Ctt>Gtt p.L355V DDX42_ENST00000359353.5_Missense_Mutation_p.L236V|DDX42_ENST00000457800.2_Missense_Mutation_p.L355V|DDX42_ENST00000389924.2_Missense_Mutation_p.L355V|DDX42_ENST00000583590.1_Missense_Mutation_p.L355V NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 355 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 AGCATATAATCTTCGATCAGT 0.453000 40 58 0 0 0.00195071 0 0 RUNX1T1 862 broad.mit.edu 37 8 93029550 93029550 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:93029550C>T ENST00000523629.1 - 3 584 c.130G>A c.(130-132)Gat>Aat p.D44N RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D17N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D7N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D55N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D17N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D44N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D7N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D7N|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D7N NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 44 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTCTTCACATCCACAGGTGAG 0.473000 31 30 0 0 0.0024448 0 0 OR10V1 390201 broad.mit.edu 37 11 59480591 59480591 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:59480591G>A ENST00000307552.2 - 1 746 c.728C>T c.(727-729)tCt>tTt p.S243F NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 GATGTGAGAAGAGCAGGTAGA 0.527000 15 26 0 0 0.000422831 0 0 ZNF304 57343 broad.mit.edu 37 19 57867617 57867617 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57867617C>T ENST00000391705.3 + 4 664 c.380C>T c.(379-381)tCg>tTg p.S127L ZNF304_ENST00000282286.5_Missense_Mutation_p.S127L|ZNF304_ENST00000598744.1_Missense_Mutation_p.S85L|ZNF304_ENST00000443917.2_Missense_Mutation_p.S174L NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) AGAAGATTCTCGTTCAGTGCA 0.483000 13 57 0 0 0.00185496 0 0 KIF4B 285643 broad.mit.edu 37 5 154396321 154396321 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:154396321G>A ENST00000435029.4 + 1 3062 c.2902G>A c.(2902-2904)Gaa>Aaa p.E968K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 968 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTGTCAGGATGAAGAACTTGA 0.478000 24 38 0 0 0.00127121 0 0 SHANK1 50944 broad.mit.edu 37 19 51218985 51218985 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51218985G>A ENST00000293441.1 - 3 480 c.462C>T c.(460-462)ttC>ttT p.F154F SHANK1_ENST00000359082.3_Silent_p.F154F|SHANK1_ENST00000391814.1_Silent_p.F154F NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 154 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCTTGTATCGGAACTGAGGTC 0.532000 35 171 0 0 0.00195071 0 0 GRIA4 2893 broad.mit.edu 37 11 105789611 105789611 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:105789611C>T ENST00000393127.2 + 11 1889 c.1443C>T c.(1441-1443)atC>atT p.I481I GRIA4_ENST00000530497.1_Silent_p.I481I|GRIA4_ENST00000525187.1_Silent_p.I481I|GRIA4_ENST00000282499.5_Silent_p.I481I NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 481 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ACACAAAAATCTGGAATGGGA 0.368000 20 2 0 0 0.000375601 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716388 13716388 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:13716388C>T ENST00000279593.3 - 13 3993 c.3784G>A c.(3784-3786)Gaa>Aaa p.E1262K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1262 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGTCCAGTTCCTGCAGGGAG 0.597000 15 44 0 0 0.000308642 0 0 LAMA5 3911 broad.mit.edu 37 20 60887273 60887273 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:60887273G>A ENST00000252999.3 - 69 9526 c.9460C>T c.(9460-9462)Cac>Tac p.H3154Y NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3154 Laminin G-like 3. 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) TGGGCGCTGTGGAAGCCGAAG 0.682000 23 23 0 0 0.000720815 0 0 INTS12 57117 broad.mit.edu 37 4 106614568 106614568 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:106614568G>A ENST00000451321.2 - 4 864 c.385C>T c.(385-387)Ccc>Tcc p.P129S INTS12_ENST00000394735.1_Missense_Mutation_p.P129S|INTS12_ENST00000340139.5_Missense_Mutation_p.P129S NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 129 snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) ACAGTAATGGGAGATGACTGT 0.418000 73 99 0 0 0.000781405 0 0 CLPTM1 1209 broad.mit.edu 37 19 45495627 45495627 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:45495627C>T ENST00000541297.2 + 13 2115 c.1650C>T c.(1648-1650)ccC>ccT p.P550P CLPTM1_ENST00000546079.1_Silent_p.P462P|CLPTM1_ENST00000337392.5_Silent_p.P564P O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 564 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane p.P564P(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TCAAGATGCCCGTTATGTACC 0.622000 130 149 0 0 0.000781405 0 0 CDKAL1 54901 broad.mit.edu 37 6 20781395 20781395 + Silent SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:20781395G>T ENST00000274695.4 + 8 704 c.537G>T c.(535-537)ctG>ctT p.L179L CDKAL1_ENST00000378610.1_Silent_p.L179L|RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Silent_p.L109L NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 179 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TGAGACTGCTGGGTCAGAAAA 0.408000 10 497 0.00136819 0.00647985 0.00136819 1 0 ZNF711 7552 broad.mit.edu 37 X 84526436 84526436 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:84526436C>T ENST00000360700.4 + 10 2912 c.2026C>T c.(2026-2028)Cgt>Tgt p.R676C ZNF711_ENST00000542798.1_Missense_Mutation_p.R472C|ZNF711_ENST00000395402.1_Missense_Mutation_p.R638C|ZNF711_ENST00000373165.3_Missense_Mutation_p.R630C|ZNF711_ENST00000276123.3_Missense_Mutation_p.R630C Q9Y462 ZN711_HUMAN zinc finger protein 711 630 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AGGTTTTCATCGTCCTTCTGA 0.403000 11 0 0 0 0.000978159 0 0 SGCA 6442 broad.mit.edu 37 17 48244740 48244740 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48244740G>A ENST00000262018.3 + 2 85 c.49G>A c.(49-51)Ggg>Agg p.G17R SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Missense_Mutation_p.G17R|SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000543315.1_Missense_Mutation_p.G17R NM_000023.2 NP_000014.1 Q16586 SGCA_HUMAN sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 17 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 TCTCCTGGCAGGGCTGGGGGA 0.617000 23 30 0 0 0.000586117 0 0 TRPM2 7226 broad.mit.edu 37 21 45821720 45821720 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:45821720C>T ENST00000397928.1 + 16 2923 c.2478C>T c.(2476-2478)tcC>tcT p.S826S TRPM2_ENST00000397932.2_Silent_p.S826S|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.S806S|TRPM2_ENST00000300482.5_Silent_p.S826S NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 826 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTGTGCCCTCCTGGTGCGAGT 0.637000 132 180 0 0 0.000781405 0 0 TPRG1 285386 broad.mit.edu 37 3 188933083 188933083 + Silent SNP G G A rs141310543 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:188933083G>A ENST00000345063.3 + 3 380 c.213G>A c.(211-213)ccG>ccA p.P71P TPRG1_ENST00000433971.1_Silent_p.P71P NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 71 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CCACACAGCCGGGGGCCATTG 0.488000 32 51 0 0 0.00058488 0 0 ALPK2 115701 broad.mit.edu 37 18 56203768 56203768 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:56203768G>A ENST00000361673.3 - 5 3864 c.3651C>T c.(3649-3651)atC>atT p.I1217I RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1217 I -> T (in Ref. 4; BAC03812). ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTCCAAAAGGATATCAGAGA 0.512000 90 98 0 0 0.000781405 0 0 ATG9A 79065 broad.mit.edu 37 2 220089007 220089007 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:220089007G>A ENST00000409618.1 - 8 1525 c.1086C>T c.(1084-1086)tcC>tcT p.S362S ATG9A_ENST00000396761.2_Silent_p.S362S|ATG9A_ENST00000409422.1_Silent_p.S301S|ATG9A_ENST00000361242.4_Silent_p.S362S Q7Z3C6 ATG9A_HUMAN autophagy related 9A 362 autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCATGTACTTGGAGGCGGGCT 0.577000 37 80 0 0 0.000814825 0 0 SCN5A 6331 broad.mit.edu 37 3 38622601 38622601 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38622601C>T ENST00000413689.1 - 17 3242 c.3049G>A c.(3049-3051)Gag>Aag p.E1017K SCN5A_ENST00000423572.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1017K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1017K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1017K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1017K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1017K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1017 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCACCTTCTCCGTCTCTGGG 0.697000 19 9 0 0 0.000958276 0 0 ARID3A 1820 broad.mit.edu 37 19 929675 929675 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:929675C>T ENST00000263620.3 + 2 474 c.147C>T c.(145-147)ccC>ccT p.P49P NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 49 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACAGAGAGCCCGAGAGTGCCC 0.776000 5 3 0 0 0.00116845 0 0 SLC16A14 151473 broad.mit.edu 37 2 230902218 230902218 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:230902218C>T ENST00000295190.4 - 5 1869 c.1411G>A c.(1411-1413)Gat>Aat p.D471N NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 471 integral to membrane|plasma membrane symporter activity p.D471N(1) NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) AAGGAAAAATCATATTTTTGC 0.333000 25 34 0 0 0.000878237 0 0 TTN 7273 broad.mit.edu 37 2 179648923 179648923 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179648923G>A ENST00000589042.1 - 16 2873 c.2649C>T c.(2647-2649)ttC>ttT p.F883F TTN_ENST00000342175.6_Silent_p.F837F|TTN_ENST00000342992.6_Silent_p.F883F|TTN_ENST00000359218.5_Silent_p.F837F|TTN_ENST00000460472.2_Silent_p.F837F|TTN_ENST00000591111.1_Silent_p.F883F|TTN_ENST00000360870.5_Silent_p.F883F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 883 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) GTGTGTCAGCGAAGGGGAACT 0.537000 46 58 0 0 0.000781405 0 0 ZDHHC7 55625 broad.mit.edu 37 16 85010782 85010782 + Silent SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:85010782C>A ENST00000313732.4 - 7 1021 c.669G>T c.(667-669)ctG>ctT p.L223L ZDHHC7_ENST00000564466.1_Silent_p.L260L|ZDHHC7_ENST00000569488.1_5'UTR NM_017740.2 NP_060210.2 Q9NXF8 ZDHC7_HUMAN zinc finger, DHHC-type containing 7 223 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(6)|lung(4) 10 CCTCAAGGCACAGGAAGATCA 0.468000 28 53 1.39806e-14 6.72404e-14 0.001512 1 0 USH2A 7399 broad.mit.edu 37 1 216061780 216061780 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:216061780G>A ENST00000366943.2 - 41 8597 c.8211C>T c.(8209-8211)ccC>ccT p.P2737P USH2A_ENST00000307340.3_Silent_p.P2737P|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2737 Fibronectin type-III 14. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGACTGCATCGGGTTCCAGCA 0.507000 HNSCC(13;0.011) 15 43 0 0 0.00074312 0 0 MPO 4353 broad.mit.edu 37 17 56355300 56355300 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56355300G>A ENST00000340482.3 - 6 1364 c.1188C>T c.(1186-1188)gcC>gcT p.A396A MPO_ENST00000225275.3_Silent_p.A364A|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 364 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GCTGGTTGACGGCCAGCAGCC 0.652000 14 35 0 0 0.00185496 0 0 SULT1A1 6817 broad.mit.edu 37 16 28618163 28618163 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:28618163G>A ENST00000395609.1 - 8 1271 c.513C>T c.(511-513)tcC>tcT p.S171S SULT1A1_ENST00000569554.1_Silent_p.S171S|SULT1A1_ENST00000350842.4_Silent_p.S93S|SULT1A1_ENST00000395607.1_Silent_p.S171S|SULT1A1_ENST00000314752.7_Silent_p.S171S P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 171 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 GCTGGTACCAGGATCCGTAGG 0.582000 27 95 0 0 0.00058488 0 0 KIF26A 26153 broad.mit.edu 37 14 104643572 104643572 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:104643572G>A ENST00000315264.7 + 11 4408 c.4030G>A c.(4030-4032)Ggc>Agc p.G1344S KIF26A_ENST00000423312.2_Missense_Mutation_p.G1483S Q9ULI4 KI26A_HUMAN kinesin family member 26A 1483 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CTGTAGGAGCGGCGCAGCCAA 0.726000 12 8 0 0 0.000219431 0 0 LRP5L 91355 broad.mit.edu 37 22 25753393 25753393 + Splice_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:25753393G>A ENST00000444995.3 - 5 967 c.266_splice c.e5-1 p.G89_splice LRP5L_ENST00000402859.2_Splice_Site_p.G89_splice|LRP5L_ENST00000402785.2_Splice_Site_p.G89_splice A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like 89 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 AGTACGTGAGGCTGGAGAAGA 0.602000 24 56 0 0 0.00106085 0 0 RIMS2 9699 broad.mit.edu 37 8 104897612 104897612 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:104897612C>T ENST00000507740.1 + 2 445 c.209C>T c.(208-210)tCg>tTg p.S70L RIMS2_ENST00000436393.2_Missense_Mutation_p.S40L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S262L|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.S70L NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 293 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TATGCTACTTCGGATACCGCA 0.408000 HNSCC(12;0.0054) 21 32 0 0 0.00152264 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740314 176740314 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176740314G>A ENST00000367662.3 + 17 5877 c.4713G>A c.(4711-4713)agG>agA p.R1571R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1571 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTAAAGTCAGGAAGTAAGTTG 0.458000 12 17 0 0 0.00136819 0 0 C6orf10 10665 broad.mit.edu 37 6 32261633 32261633 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32261633C>T ENST00000375015.4 - 26 1014 c.814G>A c.(814-816)Gag>Aag p.E272K C6orf10_ENST00000447241.2_Missense_Mutation_p.E273K|C6orf10_ENST00000375007.4_Missense_Mutation_p.E271K|C6orf10_ENST00000533191.1_Missense_Mutation_p.E271K|C6orf10_ENST00000442822.2_Missense_Mutation_p.E264K|C6orf10_ENST00000527965.1_Missense_Mutation_p.E257K Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 273 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CTTTCTGGCTCCTTTATGTGT 0.398000 96 102 0 0 0.000781405 0 0 ROR2 4920 broad.mit.edu 37 9 94499762 94499762 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:94499762C>T ENST00000375708.3 - 5 731 c.533G>A c.(532-534)cGg>cAg p.R178Q ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.R38Q NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 178 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGCAATTCCCCGGTAAGGCTG 0.532000 35 5 0 0 0.00148497 0 0 ARSF 416 broad.mit.edu 37 X 3030285 3030285 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:3030285C>T ENST00000381127.1 + 11 1682 c.1461C>T c.(1459-1461)gtC>gtT p.V487V ARSF_ENST00000359361.2_Silent_p.V487V|ARSF_ENST00000537104.1_Silent_p.V487V NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 487 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCTGCTATGTCACCTCATTAT 0.542000 43 3 0 0 0.000781405 0 0 MIP 4284 broad.mit.edu 37 12 56848172 56848172 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56848172G>A ENST00000257979.4 - 1 254 c.226C>T c.(226-228)Ctt>Ttt p.L76F MIP_ENST00000555551.1_Intron NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 76 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 GAGCCCACAAGGAAAGCAAAA 0.602000 23 22 0 0 0.000375601 0 0 ULK2 9706 broad.mit.edu 37 17 19680995 19680995 + Missense_Mutation SNP T T G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:19680995T>G ENST00000395544.4 - 26 3450 c.2951A>C c.(2950-2952)cAg>cCg p.Q984P ULK2_ENST00000361658.2_Missense_Mutation_p.Q984P NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 984 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) ATCTTCGGTCTGCTGAAACAT 0.408000 13 4 0 0 0.00185496 0 0 CCNA1 8900 broad.mit.edu 37 13 37014123 37014123 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:37014123G>A ENST00000418263.1 + 6 1248 c.898G>A c.(898-900)Gaa>Aaa p.E300K CCNA1_ENST00000449823.1_Missense_Mutation_p.E257K|CCNA1_ENST00000255465.4_Missense_Mutation_p.E301K|CCNA1_ENST00000440264.1_Missense_Mutation_p.E257K NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 301 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CAGGAAATATGAAGAGATATA 0.418000 17 12 0 0 0.00074312 0 0 PIDD 55367 broad.mit.edu 37 11 804257 804257 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:804257G>A ENST00000347755.5 - 2 273 c.132C>T c.(130-132)ccC>ccT p.P44P PIDD_ENST00000411829.2_Silent_p.P44P|PIDD_ENST00000534649.1_5'UTR NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 44 apoptosis|signal transduction cytoplasm|nucleus death receptor binding GGCAGCCCCCGGGGTACAGGT 0.652000 4 14 0 0 0.000602214 0 0 CCR4 1233 broad.mit.edu 37 3 32995250 32995250 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:32995250G>A ENST00000330953.5 + 2 504 c.336G>A c.(334-336)atG>atA p.M112I NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 112 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TGTGCAAGATGATTTCCTGGA 0.478000 136 82 0 0 0.000781405 0 0 OR5D18 219438 broad.mit.edu 37 11 55587893 55587893 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:55587893C>A ENST00000333976.4 + 1 808 c.788C>A c.(787-789)cCc>cAc p.P263H NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TACTGTGTGCCCAACTCCAAA 0.522000 19 54 1.78486e-19 8.6097e-19 0.000958276 1 0 TMEM178A 130733 broad.mit.edu 37 2 39944248 39944248 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:39944248G>A ENST00000281961.2 + 4 807 c.751G>A c.(751-753)Gaa>Aaa p.E251K TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A TGCTGATGTGGAACATGGTTA 0.483000 58 118 0 0 0.000781405 0 0 ZG16B 124220 broad.mit.edu 37 16 2881806 2881806 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:2881806G>A ENST00000382280.3 + 4 352 c.273G>A c.(271-273)gtG>gtA p.V91V ZG16B_ENST00000572863.1_Silent_p.V61V NM_145252.2 NP_660295.2 Q96DA0 ZG16B_HUMAN zymogen granule protein 16B 91 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 GTGTCCAGGTGAAACTTGGAG 0.582000 31 30 0 0 0.00178596 0 0 EGFR 1956 broad.mit.edu 37 7 55266528 55266528 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:55266528C>T ENST00000275493.2 + 23 2997 c.2820C>T c.(2818-2820)acC>acT p.T940T EGFR_ENST00000455089.1_Silent_p.T895T|EGFR_ENST00000454757.2_Silent_p.T887T|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 940 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCATATGTACCATCGATGTCT 0.537000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 31 31 0 0 0.00209593 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18633904 18633904 + Missense_Mutation SNP T T G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18633904T>G ENST00000336349.5 - 4 2078 c.1843A>C c.(1843-1845)Ata>Cta p.I615L NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 615 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TGCTTGGATATTTCTTCCTGA 0.338000 51 34 0 0 0.000781405 0 0 GPR123 84435 broad.mit.edu 37 10 134942980 134942980 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:134942980C>T ENST00000607359.1 + 16 3805 c.3805C>T c.(3805-3807)Cga>Tga p.R1269* GPR123_ENST00000392606.2_Nonsense_Mutation_p.R453*|GPR123_ENST00000392607.3_Nonsense_Mutation_p.R550* Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 550 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CGGCAACATCCGAACGGGACC 0.612000 12 1 0 0 0.000219431 0 0 HERC1 8925 broad.mit.edu 37 15 64046743 64046743 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:64046743C>T ENST00000443617.2 - 7 1822 c.1735G>A c.(1735-1737)Gat>Aat p.D579N NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 579 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GTTCTCCCATCTTTAGACAGA 0.348000 30 42 0 0 0.0024448 0 0 PARP12 64761 broad.mit.edu 37 7 139724499 139724499 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:139724499G>A ENST00000263549.3 - 12 2840 c.1967C>T c.(1966-1968)tCc>tTc p.S656F NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 656 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) GGAGGGGTCGGACACACTGTT 0.577000 14 110 0 0 0.000422831 0 0 MAN2A1 4124 broad.mit.edu 37 5 109183456 109183456 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:109183456C>T ENST00000261483.4 + 19 3993 c.2941C>T c.(2941-2943)Cga>Tga p.R981* NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 981 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TAATCTATTTCGAATACTACT 0.343000 21 10 0 0 0.000878237 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524252 26524252 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:26524252C>T ENST00000456354.2 + 4 602 c.535C>T c.(535-537)Ccc>Tcc p.P179S NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 179 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) AATCAATATTCCCTCCATCAA 0.522000 36 19 0 0 0.00222228 0 0 PRG4 10216 broad.mit.edu 37 1 186276646 186276646 + Missense_Mutation SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:186276646A>C ENST00000445192.2 + 7 1840 c.1795A>C c.(1795-1797)Aag>Cag p.K599Q PRG4_ENST00000367486.3_Missense_Mutation_p.K556Q|PRG4_ENST00000367483.4_Missense_Mutation_p.K558Q|PRG4_ENST00000367485.4_Missense_Mutation_p.K506Q|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 599 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCACCAAGAAGCCTGCACC 0.647000 21 12 0 0 0.000586117 0 0 SLC1A6 6511 broad.mit.edu 37 19 15067385 15067385 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:15067385G>A ENST00000430939.2 - 6 1009 c.880C>T c.(880-882)Ctt>Ttt p.L294F SLC1A6_ENST00000221742.3_Missense_Mutation_p.L358F|SLC1A6_ENST00000600144.1_Intron P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 358 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) ATGAGGGGAAGGACAATGCCG 0.587000 7 15 0 0 0.000157383 0 0 CLCN1 1180 broad.mit.edu 37 7 143044022 143044022 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143044022G>A ENST00000343257.2 + 20 2470 c.2383G>A c.(2383-2385)Gat>Aat p.D795N NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 795 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) AGATTTAGTGGATAACATGTC 0.398000 85 35 0 0 0.000781405 0 0 ATP1B4 23439 broad.mit.edu 37 X 119513344 119513344 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:119513344C>T ENST00000218008.3 + 8 986 c.929C>T c.(928-930)cCc>cTc p.P310L ATP1B4_ENST00000361319.3_Missense_Mutation_p.P306L|ATP1B4_ENST00000539306.1_Missense_Mutation_p.P267L NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 310 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 TACACATCCCCCTTGGTGGCA 0.473000 36 5 0 0 0.00148497 0 0 HKR1 284459 broad.mit.edu 37 19 37854458 37854458 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37854458C>T ENST00000591471.1 + 9 2583 c.942C>T c.(940-942)ggC>ggT p.G314G HKR1_ENST00000544914.1_Silent_p.G314G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Silent_p.G587G|HKR1_ENST00000541583.2_Silent_p.G526G|HKR1_ENST00000589392.1_Silent_p.G569G|HKR1_ENST00000392153.3_Silent_p.G568G P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 587 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTGGGCAAGGCTTTTGTGCTA 0.552000 16 21 0 0 0.000422831 0 0 RNF17 56163 broad.mit.edu 37 13 25362263 25362263 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25362263C>T ENST00000255324.5 + 7 801 c.749C>T c.(748-750)tCg>tTg p.S250L RNF17_ENST00000381921.1_Missense_Mutation_p.S250L|RNF17_ENST00000255325.5_Missense_Mutation_p.S251L|RNF17_ENST00000255326.4_3'UTR NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 250 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTACAATTATCGCCTTCTCTA 0.299000 17 37 0 0 0.00121646 0 0 CLDN2 9075 broad.mit.edu 37 X 106171786 106171786 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:106171786G>A ENST00000541806.1 + 2 847 c.328G>A c.(328-330)Gaa>Aaa p.E110K CLDN2_ENST00000336803.1_Missense_Mutation_p.E110K|CLDN2_ENST00000540876.1_Missense_Mutation_p.E110K NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 110 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 CTTCTGCCAGGAATCCCGAGC 0.547000 38 4 0 0 0.00170553 0 0 OR2K2 26248 broad.mit.edu 37 9 114090351 114090351 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:114090351G>A ENST00000374428.1 - 1 449 c.450C>T c.(448-450)gaC>gaT p.D150D OR2K2_ENST00000302681.1_Silent_p.D121D Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 CCACATAACGGTCATATGCCA 0.532000 41 8 0 0 0.00170553 0 0 FBLN7 129804 broad.mit.edu 37 2 112922660 112922660 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:112922660C>T ENST00000331203.2 + 3 589 c.318C>T c.(316-318)acC>acT p.T106T FBLN7_ENST00000409450.3_Silent_p.T106T|FBLN7_ENST00000409903.1_Silent_p.T106T|FBLN7_ENST00000409667.3_Silent_p.T106T|FBLN7_ENST00000472377.1_3'UTR NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 106 Sushi. cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TCCATTTTACCTGCAACCCTG 0.572000 35 49 0 0 0.00058488 0 0 SLC4A10 57282 broad.mit.edu 37 2 162821560 162821560 + Splice_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:162821560G>A ENST00000375514.5 + 23 3266 c.e23-1 SLC4A10_ENST00000446997.1_Splice_Site|SLC4A10_ENST00000421911.1_Splice_Site|SLC4A10_ENST00000272716.5_Splice_Site|SLC4A10_ENST00000415876.2_Splice_Site NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATTTACTTCAGGTGTTAGCCC 0.368000 19 36 0 0 0.00074312 0 0 RNF123 63891 broad.mit.edu 37 3 49753850 49753850 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:49753850C>T ENST00000327697.6 + 35 3584 c.3440C>T c.(3439-3441)cCc>cTc p.P1147L RNF123_ENST00000433785.1_Missense_Mutation_p.P259L NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1147 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GACCACTATCCCATTCTGGTG 0.642000 127 20 0 0 0.000781405 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33016764 33016764 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:33016764G>A ENST00000357505.6 - 7 1969 c.1865C>T c.(1864-1866)tCt>tTt p.S622F N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.S637F|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.S622F|N4BP2L2_ENST00000446957.2_Intron NM_001278432.1 NP_001265361.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 0 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) AATTTCTGGAGAAATAAACCC 0.333000 32 15 0 0 0.0024448 0 0 CNTN5 53942 broad.mit.edu 37 11 100179157 100179157 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:100179157G>A ENST00000524871.1 + 21 2977 c.2687G>A c.(2686-2688)tGg>tAg p.W896* CNTN5_ENST00000279463.3_Nonsense_Mutation_p.W896*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.W896*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.W896*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.W822*|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 896 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTTGTTGCATGGAAACACATT 0.393000 22 3 0 0 0.000586117 0 0 TLDC2 140711 broad.mit.edu 37 20 35507473 35507473 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:35507473C>T ENST00000217320.3 + 3 263 c.219C>T c.(217-219)acC>acT p.T73T TLDC2_ENST00000602922.1_Silent_p.T73T NM_080628.1 NP_542195.1 TBC/LysM-associated domain containing 2 p.T73T(1) CAAGAGTCACCGGCCATCCCT 0.632000 37 131 0 0 0.000509022 0 0 TENC1 23371 broad.mit.edu 37 12 53456001 53456001 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:53456001C>T ENST00000314250.6 + 23 3929 c.3639C>T c.(3637-3639)atC>atT p.I1213I TENC1_ENST00000314276.3_Silent_p.I1223I|TENC1_ENST00000379902.3_Silent_p.I1089I|TENC1_ENST00000451358.1_Silent_p.I1203I|TENC1_ENST00000552570.1_Silent_p.I1213I|TENC1_ENST00000549700.1_Silent_p.I1148I|TENC1_ENST00000546602.1_Silent_p.I1116I NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 1213 SH2. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GGGTGAAGATCAAGGGCTGCC 0.597000 34 20 0 0 0.00111076 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754840 140754840 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140754840C>T ENST00000517434.1 + 1 1190 c.1190C>T c.(1189-1191)tCa>tTa p.S397L PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGAAAAATCAGTTGGCAAT 0.453000 34 56 0 0 0.00058488 0 0 ZNF28 7576 broad.mit.edu 37 19 53304241 53304241 + Missense_Mutation SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53304241A>C ENST00000438150.2 - 2 1591 c.698T>G c.(697-699)cTc>cGc p.L233R ZNF28_ENST00000414252.2_Missense_Mutation_p.L233R|ZNF28_ENST00000457749.2_Missense_Mutation_p.L286R|ZNF28_ENST00000360272.4_Missense_Mutation_p.L233R P17035 ZNF28_HUMAN zinc finger protein 28 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GTGAAGGAAGAGGGATGTATT 0.403000 27 135 0 0 0.000720815 0 0 STAT4 6775 broad.mit.edu 37 2 192012914 192012914 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:192012914G>A ENST00000392320.2 - 2 330 c.16C>T c.(16-18)Caa>Taa p.Q6* STAT4_ENST00000358470.4_Nonsense_Mutation_p.Q6*|STAT4_ENST00000409995.1_Nonsense_Mutation_p.Q6* NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 6 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TGTTGGACTTGATTCCACTGA 0.358000 38 70 0 0 0.00222228 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780260 91780260 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:91780260C>T ENST00000389857.6 - 15 1986 c.1900G>A c.(1900-1902)Gag>Aag p.E634K NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 634 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) AGCTCCCTCTCCAGCTTCTCT 0.627000 23 8 0 0 0.000375601 0 0 OSMR 9180 broad.mit.edu 37 5 38919081 38919081 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:38919081C>T ENST00000274276.3 + 11 1904 c.1502C>T c.(1501-1503)tCc>tTc p.S501F NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 501 Fibronectin type-III 2. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GACAGGTGTTCCTACCAAATC 0.438000 33 6 0 0 0.00111076 0 0 SCN1B 6324 broad.mit.edu 37 19 35530543 35530543 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:35530543G>A ENST00000262631.5 + 5 732 c.595G>A c.(595-597)Gaa>Aaa p.E199K SCN1B_ENST00000595652.1_Missense_Mutation_p.E128K NM_001037.4 NP_001028.1 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta subunit 199 axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCACAGCTCGGAATACCTGGC 0.622000 9 16 0 0 0.000673444 0 0 PKMYT1 9088 broad.mit.edu 37 16 3023012 3023012 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3023012G>A ENST00000262300.8 - 9 1950 c.1442C>T c.(1441-1443)cCc>cTc p.P481L PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000574385.1_Missense_Mutation_p.P472L|PAQR4_ENST00000293978.8_3'UTR|PKMYT1_ENST00000574730.1_Missense_Mutation_p.P412L|PAQR4_ENST00000318782.8_3'UTR|PKMYT1_ENST00000440027.2_3'UTR|PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000573944.1_Missense_Mutation_p.P472L NM_001258450.1|NM_004203.4|NM_182687.2 NP_001245379.1|NP_004194.3|NP_872629.1 Q99640 PMYT1_HUMAN protein kinase, membrane associated tyrosine/threonine 1 481 Interaction with CDC2-CCNB1.|Interaction with PIN1. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CTCAAAGGAGGGGAAGGAGCC 0.562000 14 19 0 0 0.000566183 0 0 SPN 6693 broad.mit.edu 37 16 29675227 29675227 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:29675227G>A ENST00000360121.3 + 2 270 c.178G>A c.(178-180)Gac>Aac p.D60N AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.D60N NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 60 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CAGCACTGGGGACCAGACCTC 0.552000 71 41 0 0 0.000781405 0 0 HYAL4 23553 broad.mit.edu 37 7 123508568 123508568 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:123508568A>G ENST00000223026.4 + 3 879 c.241A>G c.(241-243)Aag>Gag p.K81E HYAL4_ENST00000476325.1_Missense_Mutation_p.K81E NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 81 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 CCCACTGGCCAAGGCCAGGGG 0.403000 81 35 0 0 0.000781405 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92706137 92706137 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:92706137C>T ENST00000318445.6 + 10 2119 c.1905C>T c.(1903-1905)tcC>tcT p.S635S SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000424469.2_Silent_p.S635S NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 635 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CGCTCAAATCCTTCGCCTTCA 0.542000 36 20 0 0 0.00195071 0 0 SPATA13 221178 broad.mit.edu 37 13 24874551 24874551 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:24874551C>T ENST00000424834.2 + 14 4069 c.3596C>T c.(3595-3597)tCa>tTa p.S1199L SPATA13_ENST00000343003.6_Missense_Mutation_p.S518L|SPATA13_ENST00000382108.3_Missense_Mutation_p.S1199L|SPATA13_ENST00000399949.2_Missense_Mutation_p.S496L|SPATA13_ENST00000382095.4_Missense_Mutation_p.S574L|SPATA13_ENST00000409126.1_Missense_Mutation_p.S434L Q96N96 SPT13_HUMAN spermatogenesis associated 13 574 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) ATGGAAATTTCAGAAAACCAG 0.368000 15 22 0 0 0.00121646 0 0 OR6V1 346517 broad.mit.edu 37 7 142749553 142749553 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142749553G>A ENST00000418316.1 + 1 137 c.116G>A c.(115-117)gGa>gAa p.G39E NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) GCCTTCATGGGAAACACCATC 0.502000 50 190 0 0 0.000781405 0 0 CACNA1G 8913 broad.mit.edu 37 17 48668851 48668851 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48668851C>T ENST00000352832.5 + 11 2881 c.2509C>T c.(2509-2511)Cgc>Tgc p.R837C CACNA1G_ENST00000514079.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R837C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R837C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R837C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R837C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R837C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R837C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R837C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R837C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R837C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R837C NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 837 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCGGACCTTCCGCCTGATGCG 0.672000 7 6 0 0 0.00198382 0 0 CYP2C9 1559 broad.mit.edu 37 10 96731876 96731876 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:96731876C>T ENST00000260682.6 + 6 847 c.835C>T c.(835-837)Cca>Tca p.P279S NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 279 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GCACAACCAACCATCTGAATT 0.363000 47 12 0 0 0.000781405 0 0 DTX2 113878 broad.mit.edu 37 7 76112063 76112063 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:76112063C>T ENST00000324432.5 + 5 1017 c.507C>T c.(505-507)tgC>tgT p.C169C DTX2_ENST00000307569.8_Silent_p.C169C|DTX2_ENST00000446600.1_Silent_p.C78C|DTX2_ENST00000446820.2_Silent_p.C169C|DTX2_ENST00000430490.2_Silent_p.C169C|DTX2_ENST00000413936.2_Silent_p.C169C NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 169 WWE 2. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CCAGCTTCTGCCGCAGCGTGC 0.652000 17 27 0 0 0.000422831 0 0 F13A1 2162 broad.mit.edu 37 6 6266913 6266913 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:6266913G>A ENST00000264870.3 - 4 714 c.449C>T c.(448-450)tCc>tTc p.S150F NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 150 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ACATTTGGGGGAAGACTGGAT 0.498000 13 57 0 0 0.00136819 0 0 PSMB10 5699 broad.mit.edu 37 16 67968801 67968801 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:67968801C>A ENST00000358514.4 - 7 946 c.609G>T c.(607-609)ttG>ttT p.L203F CTC-479C5.12_ENST00000573493.1_3'UTR NM_002801.3 NP_002792.1 P40306 PSB10_HUMAN proteasome (prosome, macropain) subunit, beta type, 10 203 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) CCAGGTCACCCAAGATCCCGG 0.617000 7 171 0.000673444 0.00319079 0.000673444 1 0 PI15 51050 broad.mit.edu 37 8 75756215 75756215 + Splice_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:75756215G>A ENST00000260113.2 + 3 452 c.e3-1 PI15_ENST00000523773.1_Splice_Site|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 extracellular region peptidase inhibitor activity p.?(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TTCCCCTACAGGTTTGGGATG 0.393000 62 56 0 0 0.000781405 0 0 FAT2 2196 broad.mit.edu 37 5 150922028 150922028 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:150922028G>A ENST00000261800.5 - 9 8672 c.8660C>T c.(8659-8661)tCc>tTc p.S2887F NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2887 Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCCTGAGAGGATAGCTGGAT 0.498000 36 91 0 0 0.00058488 0 0 TLR5 7100 broad.mit.edu 37 1 223283826 223283826 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:223283826G>A ENST00000540964.1 - 4 3009 c.2548C>T c.(2548-2550)Ccg>Tcg p.P850S TLR5_ENST00000342210.6_Missense_Mutation_p.P850S O60602 TLR5_HUMAN toll-like receptor 5 850 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GTTTGCAACGGAATGTTATTG 0.378000 24 76 0 0 0.00178596 0 0 SPAG17 200162 broad.mit.edu 37 1 118629581 118629581 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:118629581G>A ENST00000336338.5 - 11 1475 c.1410C>T c.(1408-1410)tcC>tcT p.S470S NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 470 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTGCTCTGGGGGATGGCTCCC 0.522000 26 97 0 0 0.00127121 0 0 PANX3 116337 broad.mit.edu 37 11 124489263 124489263 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:124489263C>T ENST00000284288.2 + 4 678 c.611C>T c.(610-612)tCg>tTg p.S204L NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 204 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CGTTCACATTCGCTAGTGGCT 0.512000 42 3 0 0 0.000509022 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71555568 71555568 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:71555568G>A ENST00000265382.3 + 14 1669 c.1364G>A c.(1363-1365)gGa>gAa p.G455E PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G455E NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 455 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CTAGCCCTGGGATCCCGACAC 0.423000 83 12 0 0 0.000781405 0 0 DNAH11 8701 broad.mit.edu 37 7 21657337 21657337 + Missense_Mutation SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:21657337A>C ENST00000328843.6 + 23 4242 c.4211A>C c.(4210-4212)gAg>gCg p.E1404A DNAH11_ENST00000409508.3_Missense_Mutation_p.E1399A Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1404 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCCATCACAGAGTTACAGAGC 0.517000 Kartagener syndrome 22 23 0 0 0.000375601 0 0 MROH7 374977 broad.mit.edu 37 1 55158216 55158216 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:55158216G>A ENST00000414150.2 + 16 3109 c.2831G>A c.(2830-2832)gGa>gAa p.G944E MROH7_ENST00000409996.1_Missense_Mutation_p.G512E|MROH7_ENST00000454855.2_Missense_Mutation_p.G462E|MROH7_ENST00000545244.1_Missense_Mutation_p.G512E|MROH7_ENST00000339553.5_Missense_Mutation_p.G944E|MROH7_ENST00000421030.2_Missense_Mutation_p.G944E|MROH7_ENST00000395690.2_Missense_Mutation_p.G944E maestro heat-like repeat family member 7 CACCACCGCGGAGTGGCCTTG 0.612000 16 34 0 0 0.000422831 0 0 ELN 2006 broad.mit.edu 37 7 73477977 73477977 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:73477977G>A ENST00000252034.7 + 29 2344 c.1945G>A c.(1945-1947)Gga>Aga p.G649R ELN_ENST00000429192.1_Missense_Mutation_p.G635R|ELN_ENST00000358929.4_Missense_Mutation_p.G717R|ELN_ENST00000414324.1_Missense_Mutation_p.G625R|ELN_ENST00000380553.4_Missense_Mutation_p.G513R|ELN_ENST00000380562.4_Missense_Mutation_p.G655R|ELN_ENST00000380575.4_Missense_Mutation_p.G620R|ELN_ENST00000380576.5_Missense_Mutation_p.G630R|ELN_ENST00000458204.1_Missense_Mutation_p.G639R|ELN_ENST00000357036.5_Missense_Mutation_p.G654R|ELN_ENST00000445912.1_Missense_Mutation_p.G649R|ELN_ENST00000320399.6_Missense_Mutation_p.G682R|ELN_ENST00000320492.7_Missense_Mutation_p.G568R|ELN_ENST00000380584.4_Missense_Mutation_p.G601R NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 711 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGGCTCGGAGGACTCGGAGT 0.597000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 57 130 0 0 0.000781405 0 0 FRAS1 80144 broad.mit.edu 37 4 79432514 79432514 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:79432514C>T ENST00000264895.6 + 64 10307 c.9867C>T c.(9865-9867)ccC>ccT p.P3289P NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3284 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGGGGACCCCCTTAAGGAGCA 0.547000 24 39 0 0 0.000878237 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684175 75684175 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:75684175C>T ENST00000370855.5 - 17 1642 c.1529_splice c.e17+1 p.R510_splice SLC44A5_ENST00000370859.3_Splice_Site_p.R510_splice|SLC44A5_ENST00000535611.1_Splice_Site_p.R380_splice NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 510 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TGAAACTTACCGTATGGCTCG 0.423000 102 43 0 0 0.000781405 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297845 139297845 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:139297845C>T ENST00000406164.1 - 4 614 c.51G>A c.(49-51)ggG>ggA p.G17G NMNAT3_ENST00000296202.7_Silent_p.G54G|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Silent_p.G17G|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000511444.1_Silent_p.G17G|NMNAT3_ENST00000512391.1_Silent_p.G54G|NMNAT3_ENST00000406824.1_5'UTR Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 54 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 GGTCTTTCTTCCCATAGGTGT 0.567000 19 23 0 0 0.00229938 0 0 KRT27 342574 broad.mit.edu 37 17 38936698 38936698 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:38936698C>T ENST00000301656.3 - 3 578 c.538G>A c.(538-540)Gag>Aag p.E180K NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 180 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) AGCGCTAGCTCGTTTTCAAAC 0.453000 7 24 0 0 0.00198382 0 0 GDPD4 220032 broad.mit.edu 37 11 76944136 76944136 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:76944136C>T ENST00000315938.4 - 13 1573 c.1323G>A c.(1321-1323)agG>agA p.R441R GDPD4_ENST00000376217.2_Silent_p.R441R NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 441 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CTGAGTTAATCCTGGAGCACC 0.468000 27 18 0 0 0.001512 0 0 BAI3 577 broad.mit.edu 37 6 70071332 70071332 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:70071332C>T ENST00000370598.1 + 29 4988 c.4167C>T c.(4165-4167)gcC>gcT p.A1389A BAI3_ENST00000546190.1_Silent_p.A353A|BAI3_ENST00000238918.8_Silent_p.A595A NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1389 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATTTCATGGCCTCTGAGTTGG 0.418000 49 16 0 0 0.000781405 0 0 COL22A1 169044 broad.mit.edu 37 8 139729076 139729076 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139729076C>T ENST00000303045.6 - 28 2838 c.2392G>A c.(2392-2394)Gga>Aga p.G798R COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G798R NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 798 Collagen-like 6.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACCTTCTCTCCAGGTCGGCCT 0.383000 HNSCC(7;0.00092) 57 35 0 0 0.000781405 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99273742 99273742 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:99273742T>C ENST00000408927.3 + 4 464 c.351T>C c.(349-351)tgT>tgC p.C117C RAP1GDS1_ENST00000264572.7_Silent_p.C118C|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000339360.5_Silent_p.C118C|RAP1GDS1_ENST00000453712.2_Silent_p.C118C|RAP1GDS1_ENST00000380158.4_Silent_p.C118C|RAP1GDS1_ENST00000408900.3_Silent_p.C117C NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 117 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GAAACATATGTTACGATAGCC 0.398000 T NUP98 T-ALL 7 17 0 0 0.00198382 0 0 ODAM 54959 broad.mit.edu 37 4 71068511 71068511 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:71068511G>A ENST00000396094.2 + 9 735 c.687G>A c.(685-687)gcG>gcA p.A229A NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 229 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 AAAAAGAAGCGATCAACTTTA 0.388000 7 20 0 0 0.00198382 0 0 PSG8 440533 broad.mit.edu 37 19 43268180 43268180 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:43268180G>A ENST00000404209.4 - 2 414 c.318C>T c.(316-318)tcC>tcT p.S106S PSG8_ENST00000401467.2_Silent_p.S106S|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Silent_p.S106S NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 106 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGATCAGCAGGGATGCATTGG 0.428000 89 125 0 0 0.000781405 0 0 SLC6A18 348932 broad.mit.edu 37 5 1243685 1243685 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:1243685G>A ENST00000324642.3 + 9 1270 c.1147G>A c.(1147-1149)Ggc>Agc p.G383S SLC6A18_ENST00000296821.4_Missense_Mutation_p.G312S NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 383 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTCGGGCCCGGGCCTGGCCTT 0.642000 44 84 0 0 0.000781405 0 0 SH3BGR 6450 broad.mit.edu 37 21 40823881 40823881 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:40823881G>A ENST00000333634.4 + 1 126 c.48G>A c.(46-48)cgG>cgA p.R16R SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000458295.1_Intron NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein 16 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) AGTTGGAGCGGGACTGCCGGA 0.592000 26 38 0 0 0.000586117 0 0 FAM153B 202134 broad.mit.edu 37 5 175530241 175530241 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:175530241G>A ENST00000253490.4 + 13 733 c.676G>A c.(676-678)Gat>Aat p.D226N FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.D149N|FAM153B_ENST00000510151.1_Missense_Mutation_p.D149N P0C7A2 F153B_HUMAN family with sequence similarity 153, member B 226 endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 16 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) TCTGATCAGGGATGTACTTCA 0.502000 56 193 0 0 0.000781405 0 0 KIAA1407 57577 broad.mit.edu 37 3 113753875 113753875 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:113753875C>T ENST00000295878.3 - 6 861 c.715G>A c.(715-717)Gct>Act p.A239T KIAA1407_ENST00000545063.1_Missense_Mutation_p.A70T NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 239 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCCTCCAGAGCCTTCCTTTTC 0.483000 65 77 0 0 0.000781405 0 0 FSD2 123722 broad.mit.edu 37 15 83434727 83434727 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:83434727C>T ENST00000334574.8 - 10 1791 c.1610G>A c.(1609-1611)aGc>aAc p.S537N FSD2_ENST00000541889.1_Missense_Mutation_p.S492N A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 537 Fibronectin type-III 2. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 GATAATGTAGCTCCGCCCCGG 0.607000 15 8 0 0 0.000422831 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116067573 116067573 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:116067573C>T ENST00000369271.3 - 10 1363 c.1063G>A c.(1063-1065)Gag>Aag p.E355K AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E355K|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E408K NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 355 PH 2. 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) CTGGATGTCTCGAGGGACCTC 0.542000 28 8 0 0 0.0024448 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90499983 90499983 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:90499983C>T ENST00000325643.5 + 4 647 c.581C>T c.(580-582)cCc>cTc p.P194L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CCACCAGCTCCCCCAGCTCCT 0.637000 40 10 0 0 0.000509022 0 0 L1CAM 3897 broad.mit.edu 37 X 153130444 153130444 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:153130444C>T ENST00000370060.1 - 23 3067 c.2878G>A c.(2878-2880)Gag>Aag p.E960K L1CAM_ENST00000361981.3_Missense_Mutation_p.E955K|L1CAM_ENST00000538883.1_Missense_Mutation_p.E962K|L1CAM_ENST00000543994.1_Missense_Mutation_p.E962K|L1CAM_ENST00000361699.4_Missense_Mutation_p.E960K|L1CAM_ENST00000370055.1_Missense_Mutation_p.E955K|L1CAM_ENST00000370057.3_Missense_Mutation_p.E960K NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 960 Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGCCCCCCTCATCCACTGTG 0.677000 24 3 0 0 0.000878237 0 0 INADL 10207 broad.mit.edu 37 1 62330101 62330101 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:62330101G>C ENST00000371158.2 + 20 2745 c.2631G>C c.(2629-2631)gaG>gaC p.E877D INADL_ENST00000316485.6_Missense_Mutation_p.E877D NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 877 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AAGAATATGAGTTATATCAAG 0.438000 21 75 0 0 0.00229938 0 0 CNGB3 54714 broad.mit.edu 37 8 87683209 87683209 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:87683209C>T ENST00000320005.5 - 4 503 c.456G>A c.(454-456)gaG>gaA p.E152E NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 152 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 AGAGATCTCCCTCTACCAACT 0.498000 125 128 0 0 0.000781405 0 0 TECTA 7007 broad.mit.edu 37 11 121008598 121008598 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:121008598C>T ENST00000392793.1 + 11 3681 c.3410C>T c.(3409-3411)tCt>tTt p.S1137F TECTA_ENST00000264037.2_Missense_Mutation_p.S1137F O75443 TECTA_HUMAN tectorin alpha 1137 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGCTCAGACTCTTTCCCCAAG 0.567000 22 1 0 0 0.00229938 0 0 AGPAT6 137964 broad.mit.edu 37 8 41470463 41470463 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:41470463C>T ENST00000396987.3 + 8 1822 c.895C>T c.(895-897)Cac>Tac p.H299Y RP11-360L9.8_ENST00000581909.1_RNA NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 299 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) GAAGGATCGCCACCTGGTGGC 0.542000 OREG0018739 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 13 0 0 0.000274275 0 0 OR5D14 219436 broad.mit.edu 37 11 55563802 55563802 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:55563802C>T ENST00000335605.1 + 1 771 c.771C>T c.(769-771)atC>atT p.I257I NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) ATGGGACCATCCTTTTCCTTT 0.483000 17 31 0 0 0.000958276 0 0 ACSBG1 23205 broad.mit.edu 37 15 78475076 78475076 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:78475076G>A ENST00000258873.4 - 6 920 c.715C>T c.(715-717)Cct>Tct p.P239S ACSBG1_ENST00000560817.1_5'UTR|ACSBG1_ENST00000541759.1_5'UTR NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 239 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 TTGTTTGGAGGAGGTTCTTTA 0.517000 58 61 0 0 0.000781405 0 0 TGFBR3 7049 broad.mit.edu 37 1 92185599 92185599 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:92185599G>A ENST00000212355.4 - 9 1729 c.1264C>T c.(1264-1266)Cct>Tct p.P422S TGFBR3_ENST00000370399.2_Missense_Mutation_p.P421S|TGFBR3_ENST00000525962.1_Missense_Mutation_p.P422S NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 422 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TTTGGCCGAGGGAGCCCATCT 0.557000 109 44 0 0 0.000781405 0 0 PASD1 139135 broad.mit.edu 37 X 150832763 150832763 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:150832763G>A ENST00000370357.4 + 11 1259 c.1014G>A c.(1012-1014)atG>atA p.M338I NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 338 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CAGGCCTGATGGATCCAGTGG 0.597000 24 0 0 0 0.000586117 0 0 PRKDC 5591 broad.mit.edu 37 8 48839794 48839794 + Silent SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:48839794G>T ENST00000314191.2 - 21 2435 c.2379C>A c.(2377-2379)ctC>ctA p.L793L PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L793L NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 793 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCAGGCAGGGGAGAATGTCTT 0.388000 Non-homologous end-joining 14 30 3.35478e-16 1.61553e-15 0.000308642 1 0 VWA3B 200403 broad.mit.edu 37 2 98709692 98709692 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:98709692A>G ENST00000477737.1 + 2 341 c.137A>G c.(136-138)aAg>aGg p.K46R VWA3B_ENST00000435344.1_Missense_Mutation_p.K46R|VWA3B_ENST00000451075.2_5'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 46 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CATGGGCTTAAGAGCAACAAA 0.453000 43 43 0 0 0.000509022 0 0 POM121C 100101267 broad.mit.edu 37 7 75052288 75052288 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:75052288G>A ENST00000453279.2 - 13 2111 c.1247C>T c.(1246-1248)aCc>aTc p.T416I POM121C_ENST00000257665.5_Missense_Mutation_p.T658I NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 658 Pore side (Potential).|Ser-rich. mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 TGCTTGAAGGGTTGGAGGTGC 0.602000 71 30 0 0 0.000781405 0 0 FLRT1 23769 broad.mit.edu 37 11 63884858 63884858 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:63884858C>T ENST00000246841.3 + 2 2162 c.1119C>T c.(1117-1119)agC>agT p.S373S MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 345 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 ACATTACCAGCGAGATGGACG 0.682000 23 24 0 0 0.000586117 0 0 SNRNP48 154007 broad.mit.edu 37 6 7606287 7606287 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:7606287C>T ENST00000342415.5 + 8 889 c.830C>T c.(829-831)tCa>tTa p.S277L NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 277 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CGATCAGCTTCAGTAGATTCA 0.413000 56 94 0 0 0.000781405 0 0 ZNF714 148206 broad.mit.edu 37 19 21300638 21300638 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:21300638C>T ENST00000596143.1 + 5 1493 c.1168C>T c.(1168-1170)Cat>Tat p.H390Y ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 TAAGATAATTCATACTGGAGA 0.348000 13 13 0 0 0.00185496 0 0 BDP1 55814 broad.mit.edu 37 5 70837355 70837355 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:70837355C>T ENST00000358731.4 + 29 6360 c.6097C>T c.(6097-6099)Cac>Tac p.H2033Y BDP1_ENST00000380675.2_Missense_Mutation_p.H169Y NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2033 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAATGTAAATCACAAAATTGT 0.313000 74 126 0 0 0.000781405 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133954054 133954054 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:133954054C>T ENST00000298622.4 + 9 1582 c.1444C>T c.(1444-1446)Ccg>Tcg p.P482S NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGACCAGACCCCGTGCACCCC 0.622000 11 1 0 0 0.000978159 0 0 ATP10A 57194 broad.mit.edu 37 15 26026240 26026240 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:26026240G>A ENST00000356865.6 - 2 691 c.580C>T c.(580-582)Cac>Tac p.H194Y NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 194 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GTCTCGATGTGGCATAGCCCG 0.592000 31 50 0 0 0.001512 0 0 PROKR2 128674 broad.mit.edu 37 20 5282938 5282938 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:5282938G>A ENST00000546004.1 - 3 1149 c.903C>T c.(901-903)ttC>ttT p.F301F PROKR2_ENST00000217270.3_Silent_p.F301F Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 301 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 ACACAGTGGGGAAGAAGTCAC 0.552000 HNSCC(71;0.22) 44 18 0 0 0.00170553 0 0 SCAND3 114821 broad.mit.edu 37 6 28543477 28543477 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28543477C>T ENST00000452236.2 - 3 1622 c.1005G>A c.(1003-1005)aaG>aaA p.K335K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 335 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTGTGATGTTCTTGTATTTCG 0.368000 101 101 0 0 0.000781405 0 0 PDZD2 23037 broad.mit.edu 37 5 32074472 32074472 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:32074472T>C ENST00000438447.1 + 18 3648 c.3260T>C c.(3259-3261)tTg>tCg p.L1087S PDZD2_ENST00000282493.3_Missense_Mutation_p.L1087S O15018 PDZD2_HUMAN PDZ domain containing 2 1087 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GCACCCAAATTGGAATACACA 0.587000 62 86 0 0 0.000781405 0 0 PKM 5315 broad.mit.edu 37 15 72511451 72511451 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:72511451C>T ENST00000449901.2 - 3 192 c.34_splice c.e3-1 p.G12_splice PKM_ENST00000565184.1_5'UTR|PKM_ENST00000565154.1_5'UTR|PKM_ENST00000389093.3_5'UTR|PKM_ENST00000568883.1_5'UTR|PKM_ENST00000568459.1_5'UTR|PKM_ENST00000335181.5_5'UTR|PKM_ENST00000319622.6_5'UTR NM_001206798.1 NP_001193727.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 CTGCTGAGGTCCTGGGTCGAG 0.498000 6 90 0 0 0.00116845 0 0 FBXO10 26267 broad.mit.edu 37 9 37521630 37521630 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:37521630G>C ENST00000432825.2 - 8 2184 c.2136C>G c.(2134-2136)gaC>gaG p.D712E RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.D237E NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 712 ubiquitin ligase complex ubiquitin-protein ligase activity p.D712D(1) breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) GCAGTGGGTCGTCCTCCTTCT 0.562000 13 3 0 0 0.00185496 0 0 ZNF521 25925 broad.mit.edu 37 18 22804973 22804973 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:22804973G>A ENST00000361524.3 - 4 3057 c.2909C>T c.(2908-2910)tCc>tTc p.S970F ZNF521_ENST00000538137.2_Missense_Mutation_p.S970F|ZNF521_ENST00000584787.1_Missense_Mutation_p.S750F NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 970 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTTAAAAGGGAGGGAAACCG 0.488000 T PAX5 ALL 35 29 0 0 0.00170553 0 0 CDH18 1016 broad.mit.edu 37 5 19571815 19571815 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:19571815C>T ENST00000507958.1 - 10 2116 c.1126G>A c.(1126-1128)Gat>Aat p.D376N CDH18_ENST00000502796.1_Missense_Mutation_p.D376N|CDH18_ENST00000274170.4_Missense_Mutation_p.D376N|CDH18_ENST00000506372.1_Missense_Mutation_p.D376N|CDH18_ENST00000511273.1_Missense_Mutation_p.D376N|CDH18_ENST00000382275.1_Missense_Mutation_p.D376N Q13634 CAD18_HUMAN cadherin 18, type 2 376 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCATCTACATCCCCAACAATG 0.418000 33 0 0 0 0.00058488 0 0 ADRA1A 148 broad.mit.edu 37 8 26623662 26623662 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:26623662C>T ENST00000354550.4 - 3 1473 c.1274G>A c.(1273-1275)gGa>gAa p.G425E ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron NM_033304.2 NP_150647.2 P35348 ADA1A_HUMAN adrenoceptor alpha 1A 0 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) ACAATCCATTCCCCTCTGTCC 0.378000 8 46 0 0 0.000274275 0 0 LRP1 4035 broad.mit.edu 37 12 57588878 57588878 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:57588878C>T ENST00000243077.3 + 51 8768 c.8302C>T c.(8302-8304)Cac>Tac p.H2768Y NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2768 LDL-receptor class A 16. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGAGGCTGCTCACTGTGGTAA 0.632000 86 64 0 0 0.000781405 0 0 NTNG1 22854 broad.mit.edu 37 1 107979412 107979412 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:107979412G>C ENST00000370068.1 + 7 2227 c.1381G>C c.(1381-1383)Ggc>Cgc p.G461R NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.G427R|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.G461R|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.G461R Q9Y2I2 NTNG1_HUMAN netrin G1 461 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CTGGCACTACGGCTGTCAACG 0.522000 8 29 0 0 0.000442599 0 0 HLA-G 3135 broad.mit.edu 37 6 29797603 29797603 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29797603C>T ENST00000428701.1 + 6 1084 c.906C>T c.(904-906)tcC>tcT p.S302S HLA-G_ENST00000376828.2_Silent_p.S307S|HLA-G_ENST00000360323.6_Silent_p.S302S|HLA-G_ENST00000376815.3_Silent_p.S118S|HLA-G_ENST00000376818.3_Silent_p.S210S NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 302 Connecting peptide. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 AGCAGTCTTCCCTGCCCACCA 0.582000 35 38 0 0 0.000953801 0 0 ZNF334 55713 broad.mit.edu 37 20 45130722 45130722 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:45130722G>A ENST00000457685.2 - 6 2465 c.1142C>T c.(1141-1143)gCc>gTc p.A381V ZNF334_ENST00000347606.4_Missense_Mutation_p.A419V|ZNF334_ENST00000593880.1_Missense_Mutation_p.A442V Q9HCZ1 ZN334_HUMAN zinc finger protein 334 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CACATTGAGGGCAGATTGACA 0.423000 57 129 0 0 0.000781405 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461796 50461796 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50461796G>A ENST00000447370.2 - 8 1485 c.1395C>T c.(1393-1395)tcC>tcT p.S465S SIGLEC11_ENST00000426971.2_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 465 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CAGCCTCCCAGGAGCAGGAGG 0.697000 6 24 0 0 0.00198382 0 0 PLXND1 23129 broad.mit.edu 37 3 129276010 129276010 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:129276010G>A ENST00000324093.4 - 34 5680 c.5502C>T c.(5500-5502)atC>atT p.I1834I PLXND1_ENST00000504689.1_5'UTR|PLXND1_ENST00000393239.1_3'UTR NM_015103.2 NP_055918.2 Q9Y4D7 PLXD1_HUMAN plexin D1 1834 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AGCGCTGCACGATCTTCCGGT 0.587000 36 51 0 0 0.00148497 0 0 FAM171A1 221061 broad.mit.edu 37 10 15317887 15317887 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:15317887C>T ENST00000378116.4 - 3 391 c.385G>A c.(385-387)Gaa>Aaa p.E129K NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 129 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 ACGACATCTTCATATACCATT 0.338000 18 65 0 0 0.00152264 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995914 19995914 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:19995914C>T ENST00000391403.2 - 1 1964 c.1861G>A c.(1861-1863)Gat>Aat p.D621N NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 621 integral to membrane p.D621N(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) ATTGACCCATCCATTTTATCC 0.393000 68 75 0 0 0.000781405 0 0 HLA-DRB1 3123 broad.mit.edu 37 6 32549441 32549441 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32549441C>G ENST00000360004.5 - 3 650 c.545G>C c.(544-546)tGg>tCg p.W182S NM_002124.3 NP_002115.2 major histocompatibility complex, class II, DR beta 1 large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 CTGGAAGGTCCAGTCTCCATT 0.552000 Multiple Myeloma(14;0.17) 10 96 0 0 0.00074312 0 0 LOC101927958 101927958 broad.mit.edu 37 2 239141638 239141638 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:239141638G>A ENST00000456601.1 + 0 906 GTATAGAATGGTTGGAATTCA 0.383000 47 53 0 0 0.000680045 0 0 NDRG1 10397 broad.mit.edu 37 8 134296509 134296509 + Silent SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:134296509A>G ENST00000414097.2 - 2 913 c.46T>C c.(46-48)Ttg>Ctg p.L16L NDRG1_ENST00000518176.1_Silent_p.L16L|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000537882.1_5'UTR|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Silent_p.L16L|NDRG1_ENST00000354944.5_Silent_p.L16L NM_001135242.1 NP_001128714.1 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 16 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TTCTCCACCAAAGGCTTCACC 0.547000 T ERG prostate 15 42 0 0 0.00074312 0 0 NUP188 23511 broad.mit.edu 37 9 131745768 131745768 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:131745768C>T ENST00000372577.2 + 19 1921 c.1900C>T c.(1900-1902)Cgt>Tgt p.R634C NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 634 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GACTGATCTTCGTCACACAGG 0.478000 19 4 0 0 0.00121646 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21014014 21014014 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:21014014C>T ENST00000381545.3 + 6 642 c.423C>T c.(421-423)acC>acT p.T141T SLCO1B3_ENST00000261196.2_Silent_p.T141T|LST3_ENST00000540229.1_Silent_p.T141T|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.T141T|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 141 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GTTTATCAACCTGTTTAATTA 0.284000 31 40 0 0 0.001512 0 0 SOX10 6663 broad.mit.edu 37 22 38370153 38370153 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:38370153C>A ENST00000396884.2 - 4 1032 c.750G>T c.(748-750)caG>caT p.Q250H POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.Q250H NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 250 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CCTTGCCCGACTGCAGCTCTG 0.647000 99 168 4.58075e-42 2.22084e-41 0.000781405 1 0 CNTN5 53942 broad.mit.edu 37 11 100141950 100141950 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:100141950G>A ENST00000524871.1 + 18 2581 c.2291G>A c.(2290-2292)cGa>cAa p.R764Q CNTN5_ENST00000279463.3_Missense_Mutation_p.R764Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.R764Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.R764Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.R690Q|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 764 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACCCCATCTCGAATGATCCGC 0.448000 21 3 0 0 0.00229938 0 0 CD300E 342510 broad.mit.edu 37 17 72608905 72608905 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:72608905G>A ENST00000392619.1 - 4 621 c.586C>T c.(586-588)Ctc>Ttc p.L196F CD300E_ENST00000328630.3_Missense_Mutation_p.L169F|CD300E_ENST00000426295.2_Missense_Mutation_p.L210F NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 169 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 GGGCTGCTGAGCCGGAACCTG 0.622000 23 50 0 0 0.000878237 0 0 PCNX 22990 broad.mit.edu 37 14 71435813 71435813 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:71435813G>A ENST00000304743.2 + 5 1036 c.590G>A c.(589-591)gGa>gAa p.G197E PCNX_ENST00000439984.3_Missense_Mutation_p.G197E|PCNX_ENST00000238570.5_Missense_Mutation_p.G197E NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 197 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGTAAGGAAGGAAGTGAAGAA 0.368000 99 84 0 0 0.000781405 0 0 LINGO4 339398 broad.mit.edu 37 1 151773936 151773936 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:151773936G>A ENST00000368820.3 - 2 2182 c.1245C>T c.(1243-1245)atC>atT p.I415I NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 415 Ig-like C2-type. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCGACTTTCGGATCAGGGCTG 0.612000 44 30 0 0 0.000781405 0 0 EFEMP1 2202 broad.mit.edu 37 2 56098174 56098174 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:56098174C>T ENST00000394555.2 - 9 1520 c.1085G>A c.(1084-1086)cGa>cAa p.R362Q EFEMP1_ENST00000394554.1_Missense_Mutation_p.R362Q|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R362Q|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R224Q NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 362 EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACAAGGATTTCGTGGATAACA 0.413000 30 24 0 0 0.00209593 0 0 MRPL39 54148 broad.mit.edu 37 21 26960092 26960092 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:26960092G>A ENST00000307301.7 - 10 1020 c.979C>T c.(979-981)Ccc>Tcc p.P327S MRPL39_ENST00000352957.4_Intron NM_080794.3 NP_542984.2 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 0 mitochondrial ribosome nucleotide binding endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 AGGAGAATGGGAAATGGAGTC 0.373000 20 36 0 0 0.00121646 0 0 MTSS1 9788 broad.mit.edu 37 8 125565768 125565768 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:125565768C>T ENST00000518547.1 - 14 2206 c.1733G>A c.(1732-1734)gGa>gAa p.G578E MTSS1_ENST00000524090.1_Missense_Mutation_p.G468E|MTSS1_ENST00000431961.2_Missense_Mutation_p.G296E|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.G553E|MTSS1_ENST00000395508.2_Missense_Mutation_p.G352E|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.G582E|MTSS1_ENST00000354184.4_Missense_Mutation_p.G296E NM_014751.4 NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 578 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CATAGCAGGTCCCAGGGTGGT 0.607000 24 47 0 0 0.000375601 0 0 FSCB 84075 broad.mit.edu 37 14 44975634 44975634 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:44975634G>A ENST00000340446.4 - 1 848 c.557C>T c.(556-558)tCg>tTg p.S186L NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 186 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTTTCCCGACGATTTATGTTT 0.373000 40 103 0 0 0.00148497 0 0 LPAR4 2846 broad.mit.edu 37 X 78011239 78011239 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:78011239C>T ENST00000435339.2 + 2 1278 c.873C>T c.(871-873)atC>atT p.I291I LPAR4_ENST00000373301.2_Silent_p.I291I NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 291 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TTGCAAAGATCATGTACCCAA 0.418000 18 1 0 0 0.000958276 0 0 OBSCN 84033 broad.mit.edu 37 1 228560448 228560448 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228560448G>A ENST00000570156.2 + 105 24914 c.24840G>A c.(24838-24840)atG>atA p.M8280I OBSCN_ENST00000422127.1_Missense_Mutation_p.M7323I|OBSCN_ENST00000366707.4_Missense_Mutation_p.M4957I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7323 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCGAGTTTATGATCTTCAGGA 0.607000 13 8 0 0 0.00185496 0 0 MGAM 8972 broad.mit.edu 37 7 141759293 141759293 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141759293G>A ENST00000475668.2 + 32 3895 c.3841G>A c.(3841-3843)Gac>Aac p.D1281N MGAM_ENST00000549489.2_Missense_Mutation_p.D1281N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1281 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTCAGACATCGACTACATGGA 0.567000 17 30 0 0 0.000958276 0 0 CCDC113 29070 broad.mit.edu 37 16 58287928 58287928 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:58287928C>T ENST00000219299.4 + 3 334 c.255C>T c.(253-255)tcC>tcT p.S85S CCDC113_ENST00000443128.2_Intron NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 85 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GATCCAAATCCCGGACAGGTA 0.488000 33 31 0 0 0.000953801 0 0 AGBL1 123624 broad.mit.edu 37 15 86807643 86807643 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:86807643C>T ENST00000441037.2 + 10 1198 c.1103C>T c.(1102-1104)tCc>tTc p.S368F AGBL1_ENST00000389298.3_Missense_Mutation_p.S99F|AGBL1_ENST00000421325.2_Missense_Mutation_p.S368F NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 368 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GTCCAGACTTCCCTTCTGTGC 0.493000 13 13 0 0 0.000308642 0 0 MICALL2 79778 broad.mit.edu 37 7 1482056 1482056 + Missense_Mutation SNP G G A rs148942886 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:1482056G>A ENST00000297508.7 - 7 1658 c.1483C>T c.(1483-1485)Ccc>Tcc p.P495S MICALL2_ENST00000405088.4_Missense_Mutation_p.P283S NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 495 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) TTGGCTAAGGGACTTGCTTGT 0.607000 87 168 0 0 0.000781405 0 0 POM121L12 285877 broad.mit.edu 37 7 53104243 53104243 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:53104243C>T ENST00000408890.4 + 1 895 c.879C>T c.(877-879)ccC>ccT p.P293P NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 293 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CTGCTGGCCCCTTTGGCTCCT 0.607000 23 31 0 0 0.000720815 0 0 IL9 3578 broad.mit.edu 37 5 135228119 135228119 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:135228119G>A ENST00000274520.1 - 5 406 c.396C>T c.(394-396)ttC>ttT p.F132F NM_000590.1 NP_000581.1 P15248 IL9_HUMAN interleukin 9 132 immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process extracellular space cytokine activity|cytokine receptor binding|growth factor activity large_intestine(3)|lung(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTCTTTCTGGAAAATTTCCA 0.368000 31 60 0 0 0.0024448 0 0 CMA1 1215 broad.mit.edu 37 14 24976608 24976608 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:24976608G>A ENST00000250378.3 - 2 192 c.163C>T c.(163-165)Ctt>Ttt p.L55F RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 55 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) CGTCTTATAAGGAAACCACCA 0.488000 80 83 0 0 0.000781405 0 0 RTTN 25914 broad.mit.edu 37 18 67833372 67833372 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:67833372G>A ENST00000255674.6 - 14 2141 c.1855C>T c.(1855-1857)Ctt>Ttt p.L619F RTTN_ENST00000437017.1_Missense_Mutation_p.L619F|RTTN_ENST00000454359.1_Missense_Mutation_p.L619F NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 619 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) ATATGGAGAAGCACCTTCTGA 0.433000 26 14 0 0 0.000878237 0 0 CXorf21 80231 broad.mit.edu 37 X 30578385 30578385 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:30578385C>T ENST00000378962.3 - 3 410 c.88G>A c.(88-90)Gaa>Aaa p.E30K NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 30 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 TCTTCCTTTTCCCCAGCCACC 0.458000 26 0 0 0 0.00047179 0 0 FLG 2312 broad.mit.edu 37 1 152285860 152285860 + Missense_Mutation SNP C C T rs145828067 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152285860C>T ENST00000368799.1 - 3 1537 c.1502G>A c.(1501-1503)cGa>cAa p.R501Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 501 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R501Q(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGCTGTCTCGTGCCTGCTC 0.612000 Ichthyosis 150 88 0 0 0.000781405 0 0 ASPG 374569 broad.mit.edu 37 14 104570685 104570685 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:104570685G>A ENST00000551177.1 + 8 890 c.798G>A c.(796-798)gaG>gaA p.E266E ASPG_ENST00000455920.2_Silent_p.E266E|ASPG_ENST00000546892.2_Silent_p.E266E NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 266 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 TGGTCATGGAGACCTTCGGTT 0.672000 26 14 0 0 0.00106085 0 0 OR52K1 390036 broad.mit.edu 37 11 4510609 4510609 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:4510609C>T ENST00000307632.3 + 1 501 c.479C>T c.(478-480)cCa>cTa p.P160L NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CTAATGACTCCACTCCCCTTC 0.587000 20 24 0 0 0.00152264 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121612675 121612675 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:121612675C>T ENST00000393386.2 + 4 796 c.385C>T c.(385-387)Cac>Tac p.H129Y PTPRZ1_ENST00000449182.1_Missense_Mutation_p.H129Y NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 129 Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GATAACTTTTCACTGGGGAAA 0.363000 62 108 0 0 0.000781405 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644020 37644020 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37644020G>A ENST00000356958.4 - 5 1039 c.781C>T c.(781-783)Cag>Tag p.Q261* ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Nonsense_Mutation_p.Q206*|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.Q206*|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.Q206* Q6P3V2 Z585A_HUMAN zinc finger protein 585A 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGATTTTCTGATGCATCTTG 0.433000 51 71 0 0 0.000781405 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051318 38051318 + Missense_Mutation SNP C C T rs150670938 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:38051318C>T ENST00000261439.4 + 11 2064 c.1709C>T c.(1708-1710)tCc>tTc p.S570F TBC1D1_ENST00000508802.1_Missense_Mutation_p.S570F NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 570 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GAGGACCTGTCCAGTGACTCG 0.592000 26 34 0 0 0.000878237 0 0 STAT5B 6777 broad.mit.edu 37 17 40370323 40370323 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:40370323G>A ENST00000293328.3 - 9 1183 c.1015C>T c.(1015-1017)Cct>Tct p.P339S NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 339 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) AGGACCTGAGGAGGCTGCTTC 0.612000 16 66 0 0 0.000958276 0 0 THAP9 79725 broad.mit.edu 37 4 83839111 83839111 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:83839111G>A ENST00000302236.5 + 5 1797 c.1746G>A c.(1744-1746)gaG>gaA p.E582E LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 582 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) TCAATGCTGAGAGCTTAAAAT 0.333000 17 16 0 0 0.000566183 0 0 SUGP2 10147 broad.mit.edu 37 19 19115180 19115180 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:19115180G>A ENST00000601879.1 - 7 3023 c.2726C>T c.(2725-2727)cCt>cTt p.P909L SUGP2_ENST00000456085.2_Missense_Mutation_p.P678L|SUGP2_ENST00000337018.6_Missense_Mutation_p.P909L|SUGP2_ENST00000600377.1_Missense_Mutation_p.P923L|SUGP2_ENST00000452918.2_Missense_Mutation_p.P909L Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 909 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CGCCCCTCCAGGAGCGGGGGc 0.711000 7 10 0 0 0.000157383 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461797 50461797 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50461797G>A ENST00000447370.2 - 8 1484 c.1394C>T c.(1393-1395)tCc>tTc p.S465F SIGLEC11_ENST00000426971.2_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 465 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) AGCCTCCCAGGAGCAGGAGGG 0.701000 6 25 0 0 0.00198382 0 0 CABP1 9478 broad.mit.edu 37 12 121098548 121098548 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121098548G>A ENST00000453000.1 + 4 1164 c.652G>A c.(652-654)Gat>Aat p.D218N CABP1_ENST00000351200.2_Missense_Mutation_p.D79N|CABP1_ENST00000316803.3_Missense_Mutation_p.D282N|CABP1_ENST00000288616.3_Missense_Mutation_p.D139N Q9NZU7 CABP1_HUMAN calcium binding protein 1 282 cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGGCCATGTAGATTTTGATGA 0.502000 84 240 0 0 0.000781405 0 0 CACNA1G 8913 broad.mit.edu 37 17 48703398 48703398 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48703398C>T ENST00000352832.5 + 34 6411 c.6039C>T c.(6037-6039)tcC>tcT p.S2013S CACNA1G_ENST00000514079.1_Silent_p.S2054S|CACNA1G_ENST00000360761.4_Silent_p.S2024S|CACNA1G_ENST00000507609.1_Silent_p.S2040S|CACNA1G_ENST00000429973.2_Silent_p.S2029S|CACNA1G_ENST00000354983.4_Silent_p.S2106S|CACNA1G_ENST00000442258.2_Silent_p.S2006S|CACNA1G_ENST00000507510.2_Silent_p.S2095S|CACNA1G_ENST00000515765.1_Silent_p.S2084S|CACNA1G_ENST00000507336.1_Silent_p.S2129S|CACNA1G_ENST00000515411.1_Silent_p.S2077S|CACNA1G_ENST00000510115.1_Silent_p.S2061S|CACNA1G_ENST00000358244.5_Silent_p.S2013S|CACNA1G_ENST00000503485.1_Silent_p.S2013S|CACNA1G_ENST00000514717.1_Silent_p.S1990S|CACNA1G_ENST00000505165.1_Silent_p.S2047S|CACNA1G_ENST00000513964.1_Silent_p.S2002S|CACNA1G_ENST00000512389.1_Silent_p.S2036S|CACNA1G_ENST00000510366.1_Silent_p.S1995S|CACNA1G_ENST00000502264.1_Silent_p.S2069S|CACNA1G_ENST00000359106.5_Silent_p.S2140S|CACNA1G_ENST00000514181.1_Silent_p.S2022S|CACNA1G_ENST00000507896.1_Silent_p.S2036S|CACNA1G_ENST00000515165.1_Silent_p.S2047S|CACNA1G_ENST00000513689.2_Silent_p.S2050S NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2140 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGACTGACTCCTTGGACGTTC 0.647000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 31 0 0 0.000589545 0 0 ZNF592 9640 broad.mit.edu 37 15 85326229 85326229 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:85326229G>A ENST00000299927.3 + 1 345 c.323G>A c.(322-324)gGg>gAg p.G108E ZNF592_ENST00000560079.2_Missense_Mutation_p.G108E Q92610 ZN592_HUMAN zinc finger protein 592 108 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CACAACTGTGGGAAATTTGAT 0.507000 42 37 0 0 0.00170553 0 0 SCNN1G 6340 broad.mit.edu 37 16 23197754 23197754 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:23197754C>T ENST00000300061.2 + 2 305 c.162C>T c.(160-162)ctC>ctT p.L54L NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 54 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TGCGCCGCCTCCTCTGGATCG 0.607000 17 39 0 0 0.000958276 0 0 LYZL2 119180 broad.mit.edu 37 10 30901757 30901757 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:30901757T>A ENST00000375318.2 - 4 565 c.509A>T c.(508-510)aAc>aTc p.N170I NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 124 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) TTACCAATAGTTCATTCCTTG 0.423000 12 38 0 0 0.00185496 0 0 SYNE1 23345 broad.mit.edu 37 6 152651188 152651188 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:152651188C>T ENST00000367255.5 - 78 15233 c.14632G>A c.(14632-14634)Gaa>Aaa p.E4878K SYNE1_ENST00000265368.4_Missense_Mutation_p.E4878K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4807K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4625K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4807K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4878 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTCACATTCTGTCACCGTC 0.537000 HNSCC(10;0.0054) 31 5 0 0 0.000692331 0 0 GPR115 221393 broad.mit.edu 37 6 47681990 47681990 + Missense_Mutation SNP G G A rs116696585 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:47681990G>A ENST00000283303.2 + 6 1267 c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K GPR115_ENST00000327753.3_Missense_Mutation_p.E337K|GPR115_ENST00000371220.1_Missense_Mutation_p.E394K NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 337 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.E337>?(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 ACTCACCTTCGAAAAGATCAA 0.453000 49 48 0 0 0.000781405 0 0 HLA-DPA1 3113 broad.mit.edu 37 6 33036820 33036820 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:33036820C>T ENST00000419277.1 - 4 733 c.604G>A c.(604-606)Gac>Aac p.D202N HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.D202N NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 202 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 AGCGGCTGGTCCAAGCCCCAG 0.532000 86 103 0 0 0.000781405 0 0 RSPO1 284654 broad.mit.edu 37 1 38079995 38079995 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:38079995G>A ENST00000356545.2 - 6 1084 c.297C>T c.(295-297)atC>atT p.I99I RSPO1_ENST00000401068.1_Silent_p.I99I|RSPO1_ENST00000401069.1_Silent_p.I99I|RSPO1_ENST00000401070.1_Silent_p.I99I|RSPO1_ENST00000373059.1_Silent_p.I72I|RSPO1_ENST00000401071.2_Silent_p.I99I NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 99 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACAGTGCTCGATCTTGCATT 0.577000 46 20 0 0 0.000781405 0 0 PSMC3 5702 broad.mit.edu 37 11 47444385 47444385 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:47444385G>A ENST00000298852.3 - 7 888 c.731C>T c.(730-732)aCt>aTt p.T244I PSMC3_ENST00000530912.1_Missense_Mutation_p.T202I|PSMC3_ENST00000602866.1_Missense_Mutation_p.T228I NM_002804.4 NP_002795.2 P17980 PRS6A_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 3 244 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACTCACCTTAGTCTGTGCGGC 0.587000 53 103 0 0 0.000781405 0 0 RPUSD2 27079 broad.mit.edu 37 15 40865983 40865983 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:40865983C>T ENST00000315616.7 + 3 1199 c.1161C>T c.(1159-1161)ccC>ccT p.P387P RPUSD2_ENST00000559271.1_Silent_p.P326P NM_152260.1 NP_689473.1 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 2 387 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TCAACGACCCCATCTACAACT 0.597000 33 36 0 0 0.00058488 0 0 SLC16A7 9194 broad.mit.edu 37 12 60165124 60165124 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:60165124C>T ENST00000261187.4 + 3 506 c.342C>T c.(340-342)ctC>ctT p.L114L SLC16A7_ENST00000547379.1_Silent_p.L114L|SLC16A7_ENST00000543448.1_Silent_p.L15L|SLC16A7_ENST00000552432.1_Silent_p.L114L|SLC16A7_ENST00000552024.1_Silent_p.L114L NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 114 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) AGCTGTACCTCACTATGGGAT 0.423000 34 112 0 0 0.00111076 0 0 MGAM 8972 broad.mit.edu 37 7 141747669 141747669 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141747669G>A ENST00000475668.2 + 22 2637 c.2583G>A c.(2581-2583)acG>acA p.T861T MGAM_ENST00000549489.2_Silent_p.T861T O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 861 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGGGGAAACGAAGGGTGAGC 0.458000 9 14 0 0 0.000274275 0 0 PRG2 5553 broad.mit.edu 37 11 57156618 57156618 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:57156618G>A ENST00000311862.5 - 3 304 c.231C>T c.(229-231)atC>atT p.I77I RP11-872D17.8_ENST00000529411.1_Silent_p.I182I|PRG2_ENST00000533605.1_Silent_p.I77I|PRG2_ENST00000525955.1_Silent_p.I77I NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGCACTGAGATAGACTCAA 0.557000 79 41 0 0 0.000781405 0 0 FLG 2312 broad.mit.edu 37 1 152282637 152282637 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152282637C>T ENST00000368799.1 - 3 4760 c.4725G>A c.(4723-4725)caG>caA p.Q1575Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1575 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGGCCCACCTGTGAGTGTC 0.577000 Ichthyosis 115 70 0 0 0.000781405 0 0 SLC18A2 6571 broad.mit.edu 37 10 119013971 119013971 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:119013971G>A ENST00000298472.5 + 6 806 c.663G>A c.(661-663)atG>atA p.M221I SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 221 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GCAACGTCATGGGAATCGCCT 0.592000 29 6 0 0 0.00170553 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110464991 110464991 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:110464991C>T ENST00000378402.5 + 43 6656 c.6552C>T c.(6550-6552)ttC>ttT p.F2184F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2184 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCTCCAATTTCTCATGGGGGG 0.383000 HNSCC(38;0.096) 8 10 0 0 0.000274275 0 0 KPRP 448834 broad.mit.edu 37 1 152732973 152732973 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152732973C>T ENST00000368773.1 + 2 967 c.909C>T c.(907-909)ccC>ccT p.P303P KPRP_ENST00000606109.1_Silent_p.P303P NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 303 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCTGAACCCATATATAACA 0.597000 11 36 0 0 0.000219431 0 0 WIPF2 147179 broad.mit.edu 37 17 38421226 38421226 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:38421226T>C ENST00000323571.4 + 5 1038 c.798T>C c.(796-798)tcT>tcC p.S266S WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Silent_p.S266S|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Silent_p.S266S|WIPF2_ENST00000494757.1_3'UTR NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 266 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 ATGGACCCTCTAGCCCCACTA 0.592000 HNSCC(43;0.11) 104 9 0 0 0.000781405 0 0 UBIAD1 29914 broad.mit.edu 37 1 11334047 11334047 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:11334047C>T ENST00000376810.5 + 1 785 c.459C>T c.(457-459)tcC>tcT p.S153S UBIAD1_ENST00000376804.2_Silent_p.S153S NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 153 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) ACTACCTGTCCCCTCTGAAAC 0.557000 43 11 0 0 0.000781405 0 0 RGS9BP 388531 broad.mit.edu 37 19 33167846 33167846 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:33167846C>T ENST00000334176.3 + 1 1534 c.677C>T c.(676-678)gCc>gTc p.A226V NM_207391.2 NP_997274.2 Q6ZS82 R9BP_HUMAN regulator of G protein signaling 9 binding protein 226 negative regulation of signal transduction integral to membrane central_nervous_system(1)|lung(2) 3 Esophageal squamous(110;0.137) GCGGCTGTGGCCCTAGCCGTG 0.706000 12 8 0 0 0.000308642 0 0 MORC1 27136 broad.mit.edu 37 3 108705748 108705748 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108705748C>T ENST00000232603.5 - 22 2318 c.2236G>A c.(2236-2238)Gaa>Aaa p.E746K MORC1_ENST00000483760.1_Missense_Mutation_p.E725K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 746 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AGAGGAATTTCCTTTTTTTCT 0.279000 9 22 0 0 0.000442599 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838358 16838358 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:16838358G>A ENST00000355661.3 - 11 1865 c.1855C>T c.(1855-1857)Cac>Tac p.H619Y PLEKHA7_ENST00000531066.1_Missense_Mutation_p.H619Y|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.H619Y|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 619 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TTGACAGCGTGGCCCCGTGCC 0.597000 19 43 0 0 0.00121646 0 0 SPG11 80208 broad.mit.edu 37 15 44865754 44865754 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:44865754G>A ENST00000261866.7 - 32 6212 c.6196C>T c.(6196-6198)Cag>Tag p.Q2066* SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q2066*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q2066*|SPG11_ENST00000535302.2_Intron NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2066 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCTGTTCCCTGTGATGAAGTA 0.527000 22 22 0 0 0.00188189 0 0 CSMD2 114784 broad.mit.edu 37 1 34052167 34052167 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:34052167C>T ENST00000373381.4 - 46 7164 c.6988G>A c.(6988-6990)Gaa>Aaa p.E2330K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2332 Sushi 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCAGAATTTCATTCCCCACT 0.478000 48 23 0 0 0.000781405 0 0 ISX 91464 broad.mit.edu 37 22 35478537 35478537 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:35478537C>T ENST00000308700.6 + 2 1208 c.256C>T c.(256-258)Cgt>Tgt p.R86C ISX_ENST00000404699.2_Missense_Mutation_p.R86C NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 86 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R86C(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GCGGAGGGTTCGTACCACCTT 0.557000 77 64 0 0 0.000781405 0 0 CBLN2 147381 broad.mit.edu 37 18 70205419 70205419 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:70205419G>A ENST00000269503.4 - 5 1440 c.667C>T c.(667-669)Cct>Tct p.P223S CBLN2_ENST00000581073.1_Missense_Mutation_p.P109S|CBLN2_ENST00000585159.1_Missense_Mutation_p.P223S|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.P107S NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 223 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GTTTATAGAGGAAACACCAAG 0.507000 16 27 0 0 0.000566183 0 0 ZFP57 346171 broad.mit.edu 37 6 29640353 29640353 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29640353C>T ENST00000376883.1 - 6 1886 c.1475G>A c.(1474-1476)aGg>aAg p.R492K ZFP57_ENST00000376881.3_Missense_Mutation_p.R492K|ZFP57_ENST00000488757.1_Missense_Mutation_p.R512K Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 428 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GCCTCTTCTCCTGGGGGTATG 0.512000 48 56 0 0 0.000781405 0 0 TRANK1 9881 broad.mit.edu 37 3 36872628 36872628 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:36872628C>T ENST00000429976.2 - 21 8561 c.8314G>A c.(8314-8316)Gag>Aag p.E2772K TRANK1_ENST00000428977.2_Missense_Mutation_p.E2222K|TRANK1_ENST00000301807.6_Missense_Mutation_p.E2222K O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2772 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding p.E2215*(1)|p.E2772*(1)|p.E2222*(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCGTAAGACTCGCTGTTCCTC 0.547000 32 85 0 0 0.00111076 0 0 CLEC4C 170482 broad.mit.edu 37 12 7882278 7882278 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7882278G>A ENST00000542353.1 - 7 1046 c.556C>T c.(556-558)Cgt>Tgt p.R186C CLEC4C_ENST00000354629.5_Missense_Mutation_p.R155C|CLEC4C_ENST00000360345.3_Missense_Mutation_p.R186C|CLEC4C_ENST00000540085.1_Missense_Mutation_p.R155C NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 186 C-type lectin. innate immune response integral to membrane sugar binding autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) TCTGAAGAACGGAAATTTATT 0.398000 18 45 0 0 0.00074312 0 0 NXF5 55998 broad.mit.edu 37 X 101096486 101096486 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:101096486C>T ENST00000537026.1 - 6 644 c.285G>A c.(283-285)aaG>aaA p.K95K NXF5_ENST00000361708.2_Silent_p.K95K|NXF5_ENST00000473265.2_Silent_p.K95K NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 95 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 TCAACTTATTCTTCACAGAGT 0.473000 29 4 0 0 0.000814825 0 0 MAP3K19 80122 broad.mit.edu 37 2 135740892 135740892 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:135740892G>A ENST00000392915.1 - 9 3402 c.3283C>T c.(3283-3285)Caa>Taa p.Q1095* MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron mitogen-activated protein kinase kinase kinase 19 ctttcccattggacttgaacc 0.413000 36 43 0 0 0.000491102 0 0 NLRP13 126204 broad.mit.edu 37 19 56436372 56436372 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56436372G>A ENST00000588751.1 - 2 373 c.349C>T c.(349-351)Cca>Tca p.P117S NLRP13_ENST00000342929.3_Missense_Mutation_p.P117S Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 117 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCCTGGGTTGGATCTTGCAGC 0.443000 38 32 0 0 0.000781405 0 0 NOVA1 4857 broad.mit.edu 37 14 26917793 26917793 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:26917793G>A ENST00000539517.2 - 5 1213 c.896C>T c.(895-897)gCc>gTc p.A299V NOVA1_ENST00000465357.2_Missense_Mutation_p.A275V|NOVA1_ENST00000267422.7_Missense_Mutation_p.A177V NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 302 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGCTGGAAAGGCTGCAACGCC 0.473000 25 26 0 0 0.000586117 0 0 SEPHS1 22929 broad.mit.edu 37 10 13380726 13380726 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:13380726G>A ENST00000327347.5 - 3 651 c.276C>T c.(274-276)atC>atT p.I92I SEPHS1_ENST00000545675.1_Silent_p.I92I|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000378614.4_Silent_p.I92I|SEPHS1_ENST00000537130.1_Silent_p.I25I NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 92 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 GGTCGTCTACGATCGGGTAAA 0.463000 31 79 0 0 0.00058488 0 0 DSP 1832 broad.mit.edu 37 6 7569434 7569434 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:7569434G>A ENST00000379802.3 + 12 1776 c.1435G>A c.(1435-1437)Ggg>Agg p.G479R DSP_ENST00000418664.2_Missense_Mutation_p.G479R NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 479 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CGTGCATAAGGGGGATGAGTG 0.468000 32 116 0 0 0.000814825 0 0 C12orf54 121273 broad.mit.edu 37 12 48882737 48882737 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:48882737G>A ENST00000314014.2 + 5 297 c.166G>A c.(166-168)Gag>Aag p.E56K RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.E56K NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 56 endometrium(1)|large_intestine(4) 5 TATACAAAAGGAGGTGAGATT 0.368000 113 177 0 0 0.000781405 0 0 NRD1 4898 broad.mit.edu 37 1 52255268 52255268 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:52255268C>T ENST00000354831.7 - 32 3623 c.3434G>A c.(3433-3435)gGg>gAg p.G1145E NRD1_ENST00000539524.1_Missense_Mutation_p.G1013E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.G1077E NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 1076 DCIIPITDIRAFTTTLNLLPYHKIVK -> SVSSPLLISGL SQQHSTFSPTIK (in Ref. 1). cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ACTTCCTGGCCCTCTATGGGC 0.418000 53 38 0 0 0.000781405 0 0 PCLO 27445 broad.mit.edu 37 7 82451921 82451921 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82451921C>T ENST00000423517.2 - 20 15018 c.14681G>A c.(14680-14682)gGa>gAa p.G4894E PCLO_ENST00000333891.8_Missense_Mutation_p.G4894E|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4756 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCGAGATGGTCCATGAGAACG 0.532000 284 90 0 0 0.000781405 0 0 OR4K13 390433 broad.mit.edu 37 14 20502436 20502436 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:20502436G>A ENST00000315693.2 - 1 483 c.482C>T c.(481-483)gCt>gTt p.A161V NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CAACATGAAAGCCATTTGACT 0.468000 91 108 0 0 0.000781405 0 0 C14orf159 80017 broad.mit.edu 37 14 91647628 91647628 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:91647628C>T ENST00000518868.1 + 11 1519 c.829C>T c.(829-831)Cca>Tca p.P277S C14orf159_ENST00000412671.2_Missense_Mutation_p.P277S|C14orf159_ENST00000523771.1_Missense_Mutation_p.P272S|C14orf159_ENST00000522322.1_Missense_Mutation_p.P272S|C14orf159_ENST00000256324.10_Missense_Mutation_p.P277S|C14orf159_ENST00000521077.2_Missense_Mutation_p.P277S|C14orf159_ENST00000520328.1_Missense_Mutation_p.P260S|C14orf159_ENST00000525393.2_Missense_Mutation_p.P148S|C14orf159_ENST00000523816.1_Missense_Mutation_p.P272S|C14orf159_ENST00000428926.2_Missense_Mutation_p.P272S Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 272 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) AGAGAGAATTCCAGAGGTCCA 0.512000 18 44 0 0 0.00074312 0 0 MMP26 56547 broad.mit.edu 37 11 5012667 5012667 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:5012667C>T ENST00000380390.1 + 5 752 c.536C>T c.(535-537)tCt>tTt p.S179F MMP26_ENST00000300762.1_Missense_Mutation_p.S179F Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 179 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TTACCAAATTCTGGAAATCCT 0.478000 34 56 0 0 0.00209593 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905507 144905507 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:144905507A>G ENST00000370490.1 + 1 5819 c.1564A>G c.(1564-1566)Atc>Gtc p.I522V SLITRK2_ENST00000428560.2_Missense_Mutation_p.I522V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.I522V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.I522V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.I522V Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 522 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CCCGGCTTTCATCCAGATAGA 0.498000 22 5 0 0 0.00229938 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307836 140307836 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140307836C>T ENST00000253807.2 + 1 1359 c.1359C>T c.(1357-1359)ttC>ttT p.F453F PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.F453F|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018898.3 NP_061721.2 p.F453F(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAACTTTTCGTTGCTGAAA 0.532000 47 40 0 0 0.000781405 0 0 FAM209B 388799 broad.mit.edu 37 20 55111389 55111389 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:55111389G>A ENST00000371325.1 + 2 507 c.411G>A c.(409-411)atG>atA p.M137I NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 137 integral to membrane AAGGTGCCATGGCAACAGGCA 0.423000 68 57 0 0 0.000781405 0 0 KLF17 128209 broad.mit.edu 37 1 44595237 44595237 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:44595237G>A ENST00000372299.3 + 2 352 c.294G>A c.(292-294)atG>atA p.M98I KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 98 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) AGCGTGGTATGAGCTACTGCC 0.567000 89 34 0 0 0.000781405 0 0 CCSER2 54462 broad.mit.edu 37 10 86131800 86131800 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:86131800C>T ENST00000224756.8 + 2 1177 c.992C>T c.(991-993)tCt>tTt p.S331F CCSER2_ENST00000359979.4_Missense_Mutation_p.S331F|CCSER2_ENST00000372088.2_Missense_Mutation_p.S331F NM_018999.2 NP_061872.2 coiled-coil serine-rich protein 2 TCTCCATTTTCTGGGACTATG 0.418000 57 11 0 0 0.000781405 0 0 ROR2 4920 broad.mit.edu 37 9 94499787 94499787 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:94499787C>T ENST00000375708.3 - 5 706 c.508G>A c.(508-510)Gag>Aag p.E170K ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E30K NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 170 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AACCCATCCTCGTGGTAATCA 0.517000 25 5 0 0 0.00178596 0 0 CD276 80381 broad.mit.edu 37 15 73996076 73996076 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:73996076C>T ENST00000318443.5 + 5 1112 c.810C>T c.(808-810)ttC>ttT p.F270F CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Silent_p.F270F|CD276_ENST00000537340.2_Silent_p.F124F NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 270 Ig-like V-type 2. cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 GCTGCTCCTTCTCCCCCGAGC 0.672000 23 10 0 0 0.000720815 0 0 GRID2 2895 broad.mit.edu 37 4 93511296 93511296 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:93511296G>A ENST00000282020.4 + 2 361 c.103G>A c.(103-105)Gaa>Aaa p.E35K GRID2_ENST00000510992.1_Missense_Mutation_p.E35K|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 35 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AATTTTTGATGAATCTGCCAA 0.368000 20 21 0 0 0.00188189 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79064033 79064033 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:79064033C>T ENST00000388820.4 - 15 2480 c.2270G>A c.(2269-2271)tGg>tAg p.W757* ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 757 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GTCCCCGTTCCACTGGATGGT 0.627000 14 21 0 0 0.00121646 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604612 108604612 + Translation_Start_Site SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:108604612A>G ENST00000264047.2 + 2 277 c.1A>G c.(1-3)Atg>Gtg p.M1V SLC5A7_ENST00000409059.1_Start_Codon_SNP_p.M1V|SLC5A7_ENST00000540517.1_Intron NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 1 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTAGATAAAAATGGCTTTCCA 0.413000 14 71 0 0 0.000566183 0 0 GALNT10 55568 broad.mit.edu 37 5 153755896 153755896 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:153755896C>T ENST00000297107.6 + 5 765 c.628C>T c.(628-630)Cga>Tga p.R210* GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Nonsense_Mutation_p.R210* NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 210 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R210*(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GAGGATTCTTCGAACCAAGAA 0.502000 32 58 0 0 0.00178596 0 0 KLK6 5653 broad.mit.edu 37 19 51466678 51466678 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51466678G>A ENST00000376851.3 - 4 764 c.325C>T c.(325-327)Ctg>Ttg p.L109L KLK6_ENST00000391808.1_Silent_p.L2L|KLK6_ENST00000310157.2_Silent_p.L109L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.L109L|KLK6_ENST00000456750.2_Silent_p.L2L|KLK6_ENST00000376853.4_Intron NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 109 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) AGGCGCAACAGCATGATGTCC 0.597000 57 13 0 0 0.000781405 0 0 NEFL 4747 broad.mit.edu 37 8 24811210 24811210 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:24811210G>A ENST00000221169.5 - 0 1863 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AACCGCCGTAGGCAGATCGGC 0.567000 21 38 0 0 0.00229938 0 0 FGD6 55785 broad.mit.edu 37 12 95604944 95604944 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:95604944G>A ENST00000343958.4 - 2 339 c.116C>T c.(115-117)tCt>tTt p.S39F FGD6_ENST00000546711.1_Missense_Mutation_p.S39F|FGD6_ENST00000549499.1_Missense_Mutation_p.S39F NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 39 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TGGAACACTAGAAATCACAAT 0.483000 127 86 0 0 0.000781405 0 0 ANK2 287 broad.mit.edu 37 4 114276414 114276414 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:114276414C>T ENST00000357077.4 + 38 6693 c.6640C>T c.(6640-6642)Ccg>Tcg p.P2214S ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2181S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2181 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGCCGGCTCTCCGTGTGGCAG 0.517000 36 43 0 0 0.00128727 0 0 ST18 9705 broad.mit.edu 37 8 53044633 53044633 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:53044633G>A ENST00000276480.7 - 22 3234 c.2551C>T c.(2551-2553)Cct>Tct p.P851S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 851 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CCATTGAGAGGATTCTCCTTC 0.498000 25 38 0 0 0.000720815 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1818312 1818312 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:1818312C>T ENST00000250894.4 + 30 3829 c.3672C>T c.(3670-3672)tcC>tcT p.S1224S MAPK8IP3_ENST00000356010.5_Silent_p.S1218S NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 1224 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CCTACTGCTCCATGGCCCAGG 0.662000 31 66 0 0 0.000491102 0 0 DSCAM 1826 broad.mit.edu 37 21 41684257 41684257 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:41684257G>A ENST00000400454.1 - 9 2290 c.1813C>T c.(1813-1815)Cca>Tca p.P605S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 605 Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GAGAATCTTGGAAACTCAAAG 0.468000 13 18 0 0 0.00185496 0 0 DDX23 9416 broad.mit.edu 37 12 49233800 49233800 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:49233800G>A ENST00000308025.3 - 4 489 c.410C>T c.(409-411)cCt>cTt p.P137L DDX23_ENST00000553182.1_5'UTR NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 137 Glu-rich. P -> L (in Ref. 1; AAB87902). catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CTTTACCTTAGGCTTCTTATC 0.393000 150 184 0 0 0.000781405 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94650499 94650499 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:94650499C>T ENST00000260526.6 - 18 2220 c.2038G>A c.(2038-2040)Gaa>Aaa p.E680K ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 680 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CCATCTGGTTCCTTTTTTGCA 0.318000 19 74 0 0 0.000958276 0 0 CDCA7L 55536 broad.mit.edu 37 7 21942717 21942717 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:21942717G>A ENST00000406877.3 - 9 1492 c.1213C>T c.(1213-1215)Ccc>Tcc p.P405S CDCA7L_ENST00000373934.4_Missense_Mutation_p.P359S|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P371S NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 405 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CCACGACAGGGGGGACACACC 0.517000 12 29 0 0 0.000219431 0 0 DNMT3A 1788 broad.mit.edu 37 2 25462016 25462016 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:25462016G>A ENST00000264709.3 - 20 2728 c.2391C>T c.(2389-2391)aaC>aaT p.N797N DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Silent_p.N574N|DNMT3A_ENST00000380746.4_Silent_p.N608N|DNMT3A_ENST00000321117.5_Silent_p.N797N NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 797 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACCGGGAAGGTTACCCCAGA 0.582000 """Mis, F, N, S""" AML 18 12 0 0 0.00074312 0 0 CRP 1401 broad.mit.edu 37 1 159683350 159683350 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159683350C>T ENST00000255030.5 - 2 743 c.640G>A c.(640-642)Ggc>Agc p.G214S CRP_ENST00000437342.1_Missense_Mutation_p.G36S|CRP_ENST00000368112.1_Missense_Mutation_p.G81S|CRP_ENST00000343919.2_Missense_Mutation_p.G92S|CRP_ENST00000368111.1_Missense_Mutation_p.G92S|CRP_ENST00000368110.1_Missense_Mutation_p.G92S|CRP_ENST00000473196.1_5'UTR NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 214 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding p.G214C(1) breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) AACACTTCGCCTTGCACTTCA 0.557000 20 47 0 0 0.000958276 0 0 SCN10A 6336 broad.mit.edu 37 3 38750978 38750978 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38750978C>T ENST00000449082.2 - 24 4271 c.4272G>A c.(4270-4272)caG>caA p.Q1424Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1424 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCTTTTTTTTCTGTTGATTGA 0.413000 42 25 0 0 0.000781405 0 0 ZNF224 7767 broad.mit.edu 37 19 44611150 44611150 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44611150G>A ENST00000336976.6 + 6 1091 c.837G>A c.(835-837)caG>caA p.Q279Q AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 279 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) AAGAACATCAGAGAATCCATA 0.423000 23 35 0 0 0.00229938 0 0 ZNF562 54811 broad.mit.edu 37 19 9763879 9763879 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9763879G>A ENST00000448622.1 - 6 1189 c.1027C>T c.(1027-1029)Ccc>Tcc p.P343S ZNF562_ENST00000537617.1_Missense_Mutation_p.P227S|ZNF562_ENST00000590155.1_Missense_Mutation_p.P342S|ZNF562_ENST00000541032.1_Missense_Mutation_p.P306S|ZNF562_ENST00000293648.4_Missense_Mutation_p.P271S|ZNF562_ENST00000453792.2_Missense_Mutation_p.P274S|ZNF562_ENST00000453372.2_Missense_Mutation_p.P343S NM_001130031.1|NM_001130032.1 NP_001123503.1|NP_001123504.1 Q6V9R5 ZN562_HUMAN zinc finger protein 562 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 CATTCATAGGGTTTTATTCCA 0.428000 36 66 0 0 0.00111076 0 0 USP19 10869 broad.mit.edu 37 3 49154881 49154881 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:49154881G>A ENST00000417901.1 - 5 783 c.595C>T c.(595-597)Ccc>Tcc p.P199S USP19_ENST00000434032.2_Missense_Mutation_p.P199S|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398888.2_Missense_Mutation_p.P199S|USP19_ENST00000398892.3_Missense_Mutation_p.P137S|USP19_ENST00000398898.2_Missense_Mutation_p.P137S|USP19_ENST00000453664.1_Intron|USP19_ENST00000398896.1_Missense_Mutation_p.P5S O94966 UBP19_HUMAN ubiquitin specific peptidase 19 199 CS 1. ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGAGGGAGGGCCACGTGAGC 0.522000 33 6 0 0 0.000814825 0 0 SLC35F2 54733 broad.mit.edu 37 11 107677459 107677459 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:107677459C>T ENST00000525071.1 - 7 1146 c.558G>A c.(556-558)ggG>ggA p.G186G SLC35F2_ENST00000429869.1_Silent_p.G186G|SLC35F2_ENST00000525815.1_Silent_p.G186G|SLC35F2_ENST00000375682.4_Silent_p.G139G|SLC35F2_ENST00000265836.7_Silent_p.G38G Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 186 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) TGTCTTCCCTCCCTGCTAGTA 0.418000 34 9 0 0 0.00170553 0 0 ABCA6 23460 broad.mit.edu 37 17 67084318 67084318 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:67084318G>A ENST00000284425.2 - 28 3862 c.3688C>T c.(3688-3690)Cct>Tct p.P1230S ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1230 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CTGAAAACAGGATCTTTTCGC 0.323000 18 18 0 0 0.00152264 0 0 ZNF486 90649 broad.mit.edu 37 19 20308600 20308600 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:20308600C>T ENST00000335117.8 + 4 1138 c.1081C>T c.(1081-1083)Cgc>Tgc p.R361C CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 AGCCTTCACCCGCTCCTCACA 0.428000 23 19 0 0 0.000586117 0 0 MCF2L2 23101 broad.mit.edu 37 3 182897272 182897272 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:182897272C>T ENST00000328913.3 - 30 3538 c.3241G>A c.(3241-3243)Gag>Aag p.E1081K MCF2L2_ENST00000473233.1_3'UTR NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 1081 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GCGCGCTCCTCCTCGGTGCTG 0.687000 12 9 0 0 0.000978159 0 0 RANBP17 64901 broad.mit.edu 37 5 170668034 170668034 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:170668034G>A ENST00000523189.1 + 23 2689 c.2525G>A c.(2524-2526)tGt>tAt p.C842Y RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 842 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTGCCTTGTGTGGAAATTAT 0.448000 T TRD@ ALL 69 149 0 0 0.000781405 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994871 140994871 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140994871C>T ENST00000285879.4 + 4 1967 c.1681C>T c.(1681-1683)Cct>Tct p.P561S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 561 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCCTATCTCCTCACTACTT 0.572000 HNSCC(15;0.026) 89 22 0 0 0.000781405 0 0 UACA 55075 broad.mit.edu 37 15 70959686 70959686 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:70959686G>A ENST00000322954.6 - 16 3522 c.3337C>T c.(3337-3339)Cca>Tca p.P1113S UACA_ENST00000560441.1_Missense_Mutation_p.P1098S|UACA_ENST00000539319.1_Missense_Mutation_p.P1004S|UACA_ENST00000379983.2_Missense_Mutation_p.P1100S NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1113 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 TGTTCCAATGGAACATGTTGT 0.373000 47 94 0 0 0.000781405 0 0 MYLK 4638 broad.mit.edu 37 3 123419583 123419583 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:123419583G>A ENST00000360772.3 - 19 3110 c.2732C>T c.(2731-2733)tCg>tTg p.S911L MYLK_ENST00000359169.1_Missense_Mutation_p.S911L|MYLK_ENST00000346322.5_Missense_Mutation_p.S842L|MYLK_ENST00000360304.3_Missense_Mutation_p.S911L|MYLK_ENST00000475616.1_Missense_Mutation_p.S911L Q15746 MYLK_HUMAN myosin light chain kinase 911 5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTCGTCTTCCGATAGGGTCTT 0.582000 59 43 0 0 0.000781405 0 0 ZNF682 91120 broad.mit.edu 37 19 20117385 20117385 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:20117385C>T ENST00000397165.2 - 4 1086 c.926G>A c.(925-927)gGa>gAa p.G309E ZNF682_ENST00000597972.1_Missense_Mutation_p.G315E|ZNF682_ENST00000595736.1_Missense_Mutation_p.G233E|ZNF682_ENST00000358523.5_Missense_Mutation_p.G277E|ZNF682_ENST00000397162.1_Missense_Mutation_p.G277E|ZNF682_ENST00000596019.1_Intron NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 GGGTTTCTTTCCAGTGTGAAT 0.403000 50 46 0 0 0.000781405 0 0 MARCO 8685 broad.mit.edu 37 2 119699879 119699879 + Translation_Start_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:119699879G>A ENST00000327097.4 + 1 138 c.3G>A c.(1-3)atG>atA p.M1I MARCO_ENST00000541757.1_5'UTR NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 1 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GCTTGGCAATGAGAAATAAGA 0.458000 17 17 0 0 0.000422831 0 0 MGAM 8972 broad.mit.edu 37 7 141752244 141752244 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141752244G>A ENST00000475668.2 + 25 3010 c.2956G>A c.(2956-2958)Gag>Aag p.E986K MGAM_ENST00000549489.2_Missense_Mutation_p.E986K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 986 P-type 2. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGTATCTGGGAGGTAACCAT 0.433000 7 41 0 0 0.000442599 0 0 CCPG1 9236 broad.mit.edu 37 15 55664196 55664196 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:55664196G>A ENST00000310958.6 - 6 799 c.501C>T c.(499-501)acC>acT p.T167T CCPG1_ENST00000425574.3_Silent_p.T167T|CCPG1_ENST00000442196.3_Silent_p.T167T|CCPG1_ENST00000569205.1_Silent_p.T167T|DYX1C1-CCPG1_ENST00000565113.1_RNA NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 167 Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) GCTGATTACTGGTTTCATCAC 0.418000 20 35 0 0 0.00121646 0 0 AP3B2 8120 broad.mit.edu 37 15 83334244 83334244 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:83334244C>T ENST00000261722.3 - 16 2143 c.1936G>A c.(1936-1938)Gag>Aag p.E646K RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.E614K|AP3B2_ENST00000535359.1_Missense_Mutation_p.E646K NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 646 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GGGGCTTCCTCCGGCCAGTCT 0.592000 35 83 0 0 0.00148497 0 0 AGO1 26523 broad.mit.edu 37 1 36360795 36360795 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:36360795C>T ENST00000373204.4 + 8 1158 c.945C>T c.(943-945)aaC>aaT p.N315N AGO1_ENST00000373206.1_Silent_p.N240N NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 AGAAATATAACCTTCAGCTCA 0.502000 18 49 0 0 0.00074312 0 0 CCT7 10574 broad.mit.edu 37 2 73474974 73474974 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:73474974C>T ENST00000539919.1 + 8 942 c.571C>T c.(571-573)Ccc>Tcc p.P191S CCT7_ENST00000537131.1_Missense_Mutation_p.P135S|CCT7_ENST00000398422.2_Missense_Mutation_p.P31S|CCT7_ENST00000540468.1_Missense_Mutation_p.P148S|CCT7_ENST00000258091.5_Missense_Mutation_p.P235S|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Missense_Mutation_p.P107S NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 235 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 GTACCACAATCCCAAGATTGC 0.433000 27 28 0 0 0.000878237 0 0 PSD2 84249 broad.mit.edu 37 5 139189215 139189215 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:139189215C>T ENST00000274710.3 + 2 395 c.190C>T c.(190-192)Cca>Tca p.P64S NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 64 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGAAGGACCCAGATGTGGC 0.627000 21 48 0 0 0.00047179 0 0 ZNF197 10168 broad.mit.edu 37 3 44684197 44684197 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:44684197C>T ENST00000396058.1 + 5 1742 c.1575C>T c.(1573-1575)ctC>ctT p.L525L ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.L525L|ZNF197_ENST00000383745.2_Intron O14709 ZN197_HUMAN zinc finger protein 197 525 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AGAAGAGCCTCATTCTGCACC 0.423000 76 41 0 0 0.000781405 0 0 ADAM30 11085 broad.mit.edu 37 1 120438567 120438567 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:120438567C>T ENST00000369400.1 - 1 551 c.393G>A c.(391-393)ggG>ggA p.G131G NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 131 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CTCGGAGACCCCCCATGCATG 0.463000 169 553 0 0 0.000781405 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671178 112671178 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:112671178C>T ENST00000441065.2 + 3 580 c.268C>T c.(268-270)Ctc>Ttc p.L90F RP11-506B6.6_ENST00000587816.1_RNA NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 90 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) GAGGGAGGAGCTCCGGCATTT 0.522000 35 3 0 0 0.000953801 0 0 SCRN1 9805 broad.mit.edu 37 7 29966239 29966239 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:29966239G>T ENST00000426154.1 - 7 1091 c.915C>A c.(913-915)ttC>ttA p.F305L SCRN1_ENST00000242059.5_Missense_Mutation_p.F305L|SCRN1_ENST00000409497.1_Missense_Mutation_p.F305L|SCRN1_ENST00000416113.2_Missense_Mutation_p.F131L NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 305 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 TGAAAGGCTTGAATATGGACC 0.512000 27 34 4.22769e-11 2.02908e-10 0.00106085 1 0 XRN2 22803 broad.mit.edu 37 20 21311265 21311265 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:21311265C>T ENST00000377191.3 + 6 593 c.498C>T c.(496-498)ttC>ttT p.F166F XRN2_ENST00000539513.1_Silent_p.F112F|XRN2_ENST00000430571.2_Silent_p.F90F NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 166 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 GAACTGAATTCATGGACAATC 0.328000 11 48 0 0 0.000673444 0 0 AHNAK 79026 broad.mit.edu 37 11 62298472 62298472 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62298472G>A ENST00000378024.4 - 5 3691 c.3417C>T c.(3415-3417)ctC>ctT p.L1139L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1139 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCTCGCCTTTGAGGCTGGGCA 0.532000 88 60 0 0 0.000781405 0 0 TPRA1 131601 broad.mit.edu 37 3 127294631 127294631 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:127294631G>A ENST00000355552.3 - 8 1007 c.631C>T c.(631-633)Ctt>Ttt p.L211F TPRA1_ENST00000489960.1_Missense_Mutation_p.L211F|TPRA1_ENST00000450633.2_Missense_Mutation_p.L211F|TPRA1_ENST00000296210.7_Intron NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 211 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 GTCTTGGGAAGGATGACCACC 0.647000 34 48 0 0 0.00195071 0 0 NMUR1 10316 broad.mit.edu 37 2 232389986 232389986 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:232389986G>A ENST00000305141.4 - 3 1182 c.1049C>T c.(1048-1050)gCg>gTg p.A350V NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 350 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GGGGTTGGCCGCCGAGCCCAG 0.652000 46 53 0 0 0.000781405 0 0 KIAA0430 9665 broad.mit.edu 37 16 15702213 15702213 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:15702213G>A ENST00000396368.3 - 21 4323 c.4117C>T c.(4117-4119)Cgt>Tgt p.R1373C KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1370C|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1208C|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1373C|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R975C|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1370C NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1372 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCTTGGAGACGAAATGTATAA 0.363000 28 48 0 0 0.001512 0 0 TLE2 7089 broad.mit.edu 37 19 3002402 3002402 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3002402G>A ENST00000262953.6 - 18 2258 c.1996C>T c.(1996-1998)Cag>Tag p.Q666* TLE2_ENST00000426948.2_Nonsense_Mutation_p.Q680*|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Nonsense_Mutation_p.Q544*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.Q333*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.Q680*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.Q667*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.Q544* NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 666 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGCAGCTGGTATTTCTCC 0.607000 18 6 0 0 0.00121646 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562319 32562319 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:32562319C>T ENST00000345122.3 + 2 2759 c.2444C>T c.(2443-2445)tCc>tTc p.S815F ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S815F|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S815F|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S815F NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 815 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CAGAATAATTCCCTAATGCTT 0.383000 46 35 0 0 0.000781405 0 0 FAM163A 148753 broad.mit.edu 37 1 179783223 179783223 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:179783223C>T ENST00000341785.4 + 5 799 c.403C>T c.(403-405)Cca>Tca p.P135S NM_173509.2 NP_775780.1 Q96GL9 F163A_HUMAN family with sequence similarity 163, member A 135 integral to membrane endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1) 15 GGGGGGACCCCCATCCCTCAA 0.587000 44 34 0 0 0.000509022 0 0 DGCR8 54487 broad.mit.edu 37 22 20094149 20094149 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:20094149G>C ENST00000351989.3 + 11 2353 c.1924G>C c.(1924-1926)Gaa>Caa p.E642Q DGCR8_ENST00000383024.2_Missense_Mutation_p.E609Q|DGCR8_ENST00000407755.1_Missense_Mutation_p.E609Q NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 642 DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) TATCAAGTTTGAAGTGGTTCC 0.537000 24 45 0 0 0.000720815 0 0 ZNF462 58499 broad.mit.edu 37 9 109694806 109694806 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:109694806C>T ENST00000277225.5 + 5 6381 c.6092C>T c.(6091-6093)tCg>tTg p.S2031L ZNF462_ENST00000441147.2_Missense_Mutation_p.S937L|ZNF462_ENST00000457913.1_Missense_Mutation_p.S2091L|ZNF462_ENST00000497489.1_3'UTR Q96JM2 ZN462_HUMAN zinc finger protein 462 2031 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 CAGTATTGCTCGTTTGTTTCT 0.522000 31 1 0 0 0.000692331 0 0 SZT2 23334 broad.mit.edu 37 1 43893239 43893239 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:43893239C>T ENST00000562955.1 + 25 3466 c.3466C>T c.(3466-3468)Cgt>Tgt p.R1156C SZT2_ENST00000372442.1_Missense_Mutation_p.R314C NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1213 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TCCACCATTCCGTCGAGACTT 0.557000 30 106 0 0 0.00058488 0 0 PCNX 22990 broad.mit.edu 37 14 71575703 71575703 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:71575703C>T ENST00000304743.2 + 34 7130 c.6684C>T c.(6682-6684)aaC>aaT p.N2228N PCNX_ENST00000439984.3_Silent_p.N2117N|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Silent_p.N2156N NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 2228 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGCCAGGCAACACCTTAAGTC 0.512000 21 48 0 0 0.000375601 0 0 ITGAX 3687 broad.mit.edu 37 16 31392265 31392265 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31392265C>T ENST00000268296.4 + 29 3445 c.3324C>T c.(3322-3324)ctC>ctT p.L1108L ITGAX_ENST00000562522.1_Silent_p.L1108L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1108 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCACCCCCCTCATCGTAGGCA 0.547000 35 35 0 0 0.00148497 0 0 SLC39A11 201266 broad.mit.edu 37 17 70845886 70845886 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:70845886G>A ENST00000542342.2 - 6 597 c.509C>T c.(508-510)cCa>cTa p.P170L SLC39A11_ENST00000579732.1_Missense_Mutation_p.P163L|SLC39A11_ENST00000255559.3_Missense_Mutation_p.P163L NM_001159770.1 NP_001153242.1 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 170 zinc ion transport integral to membrane metal ion transmembrane transporter activity endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 AGGACCCTCTGGAAGGCCAGT 0.542000 16 64 0 0 0.00152264 0 0 IL1RL1 9173 broad.mit.edu 37 2 102958747 102958747 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:102958747G>A ENST00000311734.2 + 6 1014 c.675G>A c.(673-675)gtG>gtA p.V225V IL1RL1_ENST00000409584.1_Silent_p.V225V|IL1RL1_ENST00000404917.2_Silent_p.V108V|IL1RL1_ENST00000233954.1_Silent_p.V225V Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 225 Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TAAAGGAAGTGGAAATTGGTA 0.378000 37 50 0 0 0.00195071 0 0 CNTN1 1272 broad.mit.edu 37 12 41463829 41463829 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:41463829G>A ENST00000551295.2 + 24 3166 c.3049G>A c.(3049-3051)Gaa>Aaa p.E1017K CNTN1_ENST00000347616.1_Missense_Mutation_p.E1017K|CNTN1_ENST00000348761.2_Missense_Mutation_p.E1006K NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 1017 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGTCTACTTGGAATTCTGAAT 0.498000 31 28 0 0 0.00128727 0 0 NBPF14 25832 broad.mit.edu 37 1 148004557 148004557 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:148004557G>A ENST00000369219.1 - 22 2773 c.2757C>T c.(2755-2757)ttC>ttT p.F919F Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 919 NBPF 10. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) CTTATTGTGGGAATATGACTC 0.463000 29 360 0 0 0.000781405 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147620 6147620 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:6147620G>A ENST00000588304.1 + 3 527 c.81G>A c.(79-81)aaG>aaA p.K27K ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Silent_p.K77K|ACSBG2_ENST00000586696.1_Silent_p.K77K|ACSBG2_ENST00000591403.1_Silent_p.K77K Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 77 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGGCAAAAAGTGGGAAATTC 0.443000 45 135 0 0 0.000781405 0 0 CORO7 79585 broad.mit.edu 37 16 4411374 4411374 + Missense_Mutation SNP G G A rs147901888 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:4411374G>A ENST00000251166.4 - 17 1820 c.1675C>T c.(1675-1677)Cgc>Tgc p.R559C CORO7_ENST00000423908.2_3'UTR|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R559C|CORO7_ENST00000574025.1_Missense_Mutation_p.R474C|CORO7_ENST00000537233.2_Missense_Mutation_p.R541C|CORO7_ENST00000539968.1_Missense_Mutation_p.R339C NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 ACAGCGAGGCGATGGGGGTCA 0.667000 16 48 0 0 0.000958276 0 0 TRPM2 7226 broad.mit.edu 37 21 45786723 45786723 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:45786723G>A ENST00000397928.1 + 4 955 c.510G>A c.(508-510)ttG>ttA p.L170L TRPM2_ENST00000397932.2_Silent_p.L170L|TRPM2_ENST00000300481.9_Silent_p.L170L|TRPM2_ENST00000300482.5_Silent_p.L170L NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 170 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCAATCTCTTGATCTCGGTGA 0.602000 33 44 0 0 0.000692331 0 0 C1orf168 199920 broad.mit.edu 37 1 57219538 57219538 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:57219538C>T ENST00000343433.6 - 8 1281 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 401 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GAATATGGTTCCTTTTCTGTG 0.353000 30 23 0 0 0.00209593 0 0 FNDC3B 64778 broad.mit.edu 37 3 172016555 172016555 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:172016555C>T ENST00000336824.4 + 9 1138 c.1039C>T c.(1039-1041)Cca>Tca p.P347S FNDC3B_ENST00000415807.2_Missense_Mutation_p.P347S|FNDC3B_ENST00000416957.1_Missense_Mutation_p.P347S NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 347 Fibronectin type-III 1. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AGATCTTAGACCAGCAACAGA 0.358000 37 81 0 0 0.00222228 0 0 LHX9 56956 broad.mit.edu 37 1 197889293 197889293 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:197889293G>A ENST00000367390.3 + 3 366 c.339G>A c.(337-339)gaG>gaA p.E113E LHX9_ENST00000367387.4_Silent_p.E122E|LHX9_ENST00000367391.1_Silent_p.E113E|LHX9_ENST00000561173.1_Silent_p.E128E|LHX9_ENST00000337020.2_Silent_p.E122E NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 122 LIM zinc-binding 1. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 ACTGCAAGGAGGATTACTACA 0.577000 27 84 0 0 0.0024448 0 0 CCDC146 57639 broad.mit.edu 37 7 76924180 76924180 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:76924180C>T ENST00000285871.4 + 19 2992 c.2865C>T c.(2863-2865)atC>atT p.I955I CCDC146_ENST00000431197.1_Silent_p.I669I|CCDC146_ENST00000415740.2_3'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 955 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CAGTTGAAATCTGAATATGTG 0.403000 12 27 0 0 0.00185496 0 0 ZNF812 729648 broad.mit.edu 37 19 9801900 9801900 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9801900C>T ENST00000457674.2 - 5 797 c.279G>A c.(277-279)gaG>gaA p.E93E ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 93 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CACTGAAGACCTCTCCACAAT 0.398000 15 16 0 0 0.000958276 0 0 POU2F3 25833 broad.mit.edu 37 11 120180244 120180244 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:120180244C>T ENST00000260264.4 + 10 1057 c.1023C>T c.(1021-1023)atC>atT p.I341I POU2F3_ENST00000543440.2_Silent_p.I339I NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 339 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) AGAAGCGAATCAACTGCCCTG 0.567000 13 6 0 0 0.000219431 0 0 AMER3 205147 broad.mit.edu 37 2 131519766 131519766 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:131519766C>T ENST00000423981.1 + 2 231 c.121C>T c.(121-123)Cca>Tca p.P41S AMER3_ENST00000321420.4_Missense_Mutation_p.P41S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GTCAGTCCTTCCAGGAGGGCA 0.647000 4 8 0 0 0.000602214 0 0 KRT74 121391 broad.mit.edu 37 12 52963677 52963677 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52963677C>T ENST00000549343.1 - 6 1138 c.1100G>A c.(1099-1101)aGg>aAg p.R367K KRT74_ENST00000305620.2_Missense_Mutation_p.R367K Q7RTS7 K2C74_HUMAN keratin 74 367 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) ACACCGGATCCTCTGGATGAG 0.602000 23 58 0 0 0.00047179 0 0 CABIN1 23523 broad.mit.edu 37 22 24573578 24573578 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:24573578C>T ENST00000398319.2 + 36 6697 c.6312C>T c.(6310-6312)ccC>ccT p.P2104P CABIN1_ENST00000405822.2_Silent_p.P2025P|CABIN1_ENST00000337989.7_Silent_p.P474P|CABIN1_ENST00000263119.5_Silent_p.P2104P NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 2104 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CCAAGGCCCCCAGCAGTGGGA 0.667000 43 32 0 0 0.000680045 0 0 LCE1E 353135 broad.mit.edu 37 1 152760030 152760030 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152760030C>T ENST00000368770.3 + 2 308 c.255C>T c.(253-255)tcC>tcT p.S85S LCE1E_ENST00000368771.1_Silent_p.S85S NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 85 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACCACAGGTCCCACCGTCACA 0.697000 19 55 0 0 0.00121646 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799767 159799767 + Missense_Mutation SNP G G A rs140969397 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159799767G>A ENST00000289707.5 + 2 301 c.152G>A c.(151-153)cGa>cAa p.R51Q SLAMF8_ENST00000368104.4_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 51 integral to membrane p.R51Q(1) endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GCTATCTGGCGATCTCTCTGG 0.612000 72 127 0 0 0.000781405 0 0 ACTB 60 broad.mit.edu 37 7 5568857 5568857 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:5568857C>T ENST00000331789.5 - 3 489 c.298G>A c.(298-300)Gag>Aag p.E100K NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 100 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) ACGGGGTGCTCCTCGGGAGCC 0.627000 35 38 0 0 0.000814825 0 0 CDYL2 124359 broad.mit.edu 37 16 80718715 80718715 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:80718715G>A ENST00000299564.8 - 2 491 c.336C>T c.(334-336)ccC>ccT p.P112P CDYL2_ENST00000562812.1_Silent_p.P112P|CDYL2_ENST00000566173.1_Silent_p.P112P|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Silent_p.P112P NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 112 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 GCTTGGCCAGGGGAGGGTTAA 0.547000 14 29 0 0 0.00185496 0 0 UMOD 7369 broad.mit.edu 37 16 20355393 20355393 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20355393G>A ENST00000396134.2 - 7 1506 c.1383C>T c.(1381-1383)ccC>ccT p.P461P UMOD_ENST00000570689.1_Silent_p.P428P|UMOD_ENST00000424589.1_Silent_p.P461P|UMOD_ENST00000396138.4_Silent_p.P477P|UMOD_ENST00000396142.2_Silent_p.P428P|UMOD_ENST00000302509.4_Silent_p.P428P NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 428 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TCATGTCCAGGGGGTAGGAGC 0.537000 19 34 0 0 0.00121646 0 0 ADAM30 11085 broad.mit.edu 37 1 120438381 120438381 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:120438381C>T ENST00000369400.1 - 1 737 c.579G>A c.(577-579)agG>agA p.R193R NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 193 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CAGGAAAGTCCCTTAGCCTCG 0.408000 174 553 0 0 0.000781405 0 0 ZNF785 146540 broad.mit.edu 37 16 30594028 30594028 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:30594028G>A ENST00000395216.2 - 3 1230 c.1071C>T c.(1069-1071)gcC>gcT p.A357A ZNF785_ENST00000470110.1_Silent_p.A342A|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 TCCACCGATGGGCTTCCAGGG 0.667000 61 31 0 0 0.000781405 0 0 TCF20 6942 broad.mit.edu 37 22 42609063 42609063 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:42609063G>T ENST00000359486.3 - 1 2385 c.2249C>A c.(2248-2250)cCa>cAa p.P750Q TCF20_ENST00000335626.4_Missense_Mutation_p.P750Q NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CAGGAGGCTTGGGAATTTTTC 0.502000 6 132 0.000274275 0.00130221 0.000274275 1 0 TFR2 7036 broad.mit.edu 37 7 100229759 100229759 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100229759G>A ENST00000462107.1 - 8 1199 c.912C>T c.(910-912)ttC>ttT p.F304F TFR2_ENST00000223051.3_Silent_p.F304F|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Intron Q9UP52 TFR2_HUMAN transferrin receptor 2 304 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GGTCCTGGGAGAAGTCCGCTG 0.602000 48 96 0 0 0.000781405 0 0 TRIM11 81559 broad.mit.edu 37 1 228582770 228582770 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228582770A>G ENST00000493030.2 - 5 4377 c.668T>C c.(667-669)gTt>gCt p.V223A TRIM11_ENST00000284551.6_Missense_Mutation_p.V348A|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR Q96F44 TRI11_HUMAN tripartite motif containing 11 348 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) GCGGTCCCCAACCTCCACCTC 0.697000 15 17 0 0 0.000308642 0 0 SSTR3 6753 broad.mit.edu 37 22 37603068 37603068 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37603068C>T ENST00000328544.3 - 2 1308 c.775G>A c.(775-777)Gtg>Atg p.V259M SSTR3_ENST00000402501.1_Missense_Mutation_p.V259M NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 259 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 ACGGCCACCACCATGCGCGTG 0.672000 52 47 0 0 0.000781405 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010865 59010865 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:59010865G>A ENST00000263093.2 - 7 1770 c.1661C>T c.(1660-1662)aCc>aTc p.T554I SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GGACCGGAAGGTGTCCCCGAG 0.657000 18 58 0 0 0.00121646 0 0 UGT1A9 54600 broad.mit.edu 37 2 234580754 234580754 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:234580754C>T ENST00000354728.4 + 1 256 c.174C>T c.(172-174)gtC>gtT p.V58V UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) TGGTTGTAGTCATGCCAGAGG 0.522000 42 43 0 0 0.00170553 0 0 FAM169A 26049 broad.mit.edu 37 5 74130379 74130379 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:74130379C>T ENST00000389156.4 - 5 452 c.362G>A c.(361-363)cGa>cAa p.R121Q FAM169A_ENST00000380515.3_Intron|FAM169A_ENST00000510496.1_Missense_Mutation_p.R121Q NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 121 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 ATAAATAATTCGATTCAGAAC 0.408000 18 22 0 0 0.00121646 0 0 DNAH17 8632 broad.mit.edu 37 17 76455266 76455266 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:76455266G>A ENST00000389840.5 - 61 9760 c.9636C>T c.(9634-9636)ttC>ttT p.F3212F DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.F3221F dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACTCGGGGTCGAACGTCGGGT 0.647000 161 103 0 0 0.000781405 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29908237 29908237 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:29908237G>A ENST00000308713.5 - 3 944 c.417C>T c.(415-417)tcC>tcT p.S139S SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Silent_p.S95S|SEZ6L2_ENST00000346932.5_Silent_p.S139S NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 139 Pro-rich. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAGGCCCTGGGGAGGCAGGGC 0.687000 8 36 0 0 0.000442599 0 0 PDE2A 5138 broad.mit.edu 37 11 72290592 72290592 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:72290592G>A ENST00000334456.5 - 26 2487 c.2242C>T c.(2242-2244)Cat>Tat p.H748Y PDE2A_ENST00000444035.2_Missense_Mutation_p.H739Y|PDE2A_ENST00000376450.3_Missense_Mutation_p.H492Y|PDE2A_ENST00000544570.1_Missense_Mutation_p.H741Y|PDE2A_ENST00000540345.1_Missense_Mutation_p.H739Y|PDE2A_ENST00000418754.2_Missense_Mutation_p.H633Y NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 748 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CGGGAGAAATGATCAAAGATG 0.622000 34 86 0 0 0.000953801 0 0 PTPRR 5801 broad.mit.edu 37 12 71286618 71286618 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:71286618G>A ENST00000283228.2 - 2 650 c.198C>T c.(196-198)taC>taT p.Y66Y NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 66 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AAGAGGAATGGTAGCTATGTC 0.453000 50 123 0 0 0.000781405 0 0 KIAA1109 84162 broad.mit.edu 37 4 123161431 123161431 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:123161431C>T ENST00000264501.4 + 29 4967 c.4594C>T c.(4594-4596)Cgt>Tgt p.R1532C KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1532C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1532C Q2LD37 K1109_HUMAN KIAA1109 1532 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CTCATTGCATCGTCCCCTTGA 0.383000 31 23 0 0 0.00209593 0 0 TIMP4 7079 broad.mit.edu 37 3 12195894 12195894 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:12195894C>T ENST00000287814.4 - 4 920 c.410G>A c.(409-411)tGg>tAg p.W137* SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 137 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 CAGGTCCTCCCAGGGCTCGAT 0.493000 61 252 0 0 0.000781405 0 0 HRASLS5 117245 broad.mit.edu 37 11 63235936 63235936 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:63235936C>T ENST00000540857.1 - 4 479 c.345_splice c.e4-1 p.G116_splice HRASLS5_ENST00000301790.4_Splice_Site_p.G126_splice|HRASLS5_ENST00000539221.1_Splice_Site_p.G126_splice NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 126 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TCTTGGTTTTCCCTATAATGG 0.453000 36 19 0 0 0.000814825 0 0 CTDP1 9150 broad.mit.edu 37 18 77477664 77477664 + Missense_Mutation SNP C C T rs138106090 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:77477664C>T ENST00000299543.7 + 9 2345 c.2198C>T c.(2197-2199)aCc>aTc p.T733I CTDP1_ENST00000075430.7_Missense_Mutation_p.T733I NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 733 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GACGATCACACCAAGGCACAG 0.642000 26 49 0 0 0.00178596 0 0 DIDO1 11083 broad.mit.edu 37 20 61511312 61511312 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:61511312G>A ENST00000266070.4 - 16 6321 c.5996C>T c.(5995-5997)tCt>tTt p.S1999F DIDO1_ENST00000395343.1_Missense_Mutation_p.S1999F NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1999 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ATTTTTTTCAGAAAAGGGTGC 0.602000 151 108 0 0 0.000781405 0 0 SCN11A 11280 broad.mit.edu 37 3 38961481 38961481 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38961481C>T ENST00000450244.1 - 7 1102 c.904G>A c.(904-906)Gaa>Aaa p.E302K SCN11A_ENST00000456224.3_Missense_Mutation_p.E302K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E302K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E302K Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 302 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTTTCTTTTCAAAGCAATGG 0.333000 16 59 0 0 0.000958276 0 0 ROS1 6098 broad.mit.edu 37 6 117730773 117730773 + Silent SNP C C T rs149736013 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:117730773C>T ENST00000368508.3 - 4 459 c.261G>A c.(259-261)gcG>gcA p.A87A GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.A96A NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 87 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATGCACCTTCCGCGCTGCTAC 0.473000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 39 6 0 0 0.000781405 0 0 GANAB 23193 broad.mit.edu 37 11 62398174 62398174 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62398174C>T ENST00000346178.4 - 12 1366 c.1351G>A c.(1351-1353)Gac>Aac p.D451N GANAB_ENST00000540933.1_Missense_Mutation_p.D332N|GANAB_ENST00000356638.3_Missense_Mutation_p.D429N|GANAB_ENST00000534779.1_Missense_Mutation_p.D337N NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 429 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TGTTCAATGTCTAGCCAGATG 0.562000 17 38 0 0 0.000422831 0 0 CNGA4 1262 broad.mit.edu 37 11 6261637 6261637 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:6261637G>A ENST00000379936.2 + 4 728 c.613G>A c.(613-615)Gac>Aac p.D205N CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 205 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGTACCCGGACCCCGCGCA 0.577000 36 46 0 0 0.000953801 0 0 LMTK3 114783 broad.mit.edu 37 19 49013377 49013377 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49013377C>T ENST00000600059.1 - 3 491 c.264G>A c.(262-264)gcG>gcA p.A88A LMTK3_ENST00000270238.3_Silent_p.A117A lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) AGGTCTCCTCCGCAGGGGGAG 0.622000 6 12 0 0 0.00198382 0 0 RIC3 79608 broad.mit.edu 37 11 8132302 8132302 + Silent SNP G G A rs17852022 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:8132302G>A ENST00000396677.2 - 3 566 c.567C>T c.(565-567)acC>acT p.T189T RIC3_ENST00000335425.7_Silent_p.T169T|RIC3_ENST00000425599.2_Silent_p.T270T|RIC3_ENST00000343202.4_Silent_p.T350T|RIC3_ENST00000309737.6_Silent_p.T351T|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.T302T Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 351 endoplasmic reticulum membrane|Golgi membrane|integral to membrane p.T350T(1) breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) ATGCTTTATCGGTGCTGATGC 0.478000 34 51 0 0 0.000814825 0 0 F8 2157 broad.mit.edu 37 X 154133156 154133156 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:154133156T>C ENST00000360256.4 - 16 5716 c.5516A>G c.(5515-5517)cAa>cGa p.Q1839R NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1839 F5/8 type A 3.|Plastocyanin-like 5. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CATATGATGTTGCACTTTCCA 0.413000 36 5 0 0 0.000953801 0 0 FCRL3 115352 broad.mit.edu 37 1 157667079 157667079 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:157667079C>T ENST00000368184.3 - 6 986 c.695G>A c.(694-696)aGc>aAc p.S232N FCRL3_ENST00000368186.5_Missense_Mutation_p.S232N|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 232 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GAGGGTCTGGCTATCTCTGAA 0.587000 50 39 0 0 0.000781405 0 0 ASXL3 80816 broad.mit.edu 37 18 31311980 31311980 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:31311980G>A ENST00000269197.5 + 9 928 c.928G>A c.(928-930)Gaa>Aaa p.E310K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCTAAATAATGAATTCTTTGC 0.378000 54 43 0 0 0.000781405 0 0 EPHB4 2050 broad.mit.edu 37 7 100417782 100417782 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100417782G>A ENST00000358173.3 - 5 1413 c.945C>T c.(943-945)ccC>ccT p.P315P EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.P315P NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 315 Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GTGCACCCCGGGGGTCTGTGC 0.637000 92 30 0 0 0.000781405 0 0 CENPB 1059 broad.mit.edu 37 20 3765730 3765730 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3765730G>A ENST00000379751.4 - 1 1607 c.1401C>T c.(1399-1401)tcC>tcT p.S467S NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 467 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 AGCCCTCCGAGGAGCTCTCCT 0.612000 16 20 0 0 0.00121646 0 0 AVEN 57099 broad.mit.edu 37 15 34159739 34159739 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34159739G>A ENST00000306730.3 - 5 1059 c.930C>T c.(928-930)gaC>gaT p.D310D NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 310 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) TGGATTTCAGGTCCTGAGACG 0.423000 37 58 0 0 0.00111076 0 0 LGALS9 3965 broad.mit.edu 37 17 25970563 25970563 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:25970563G>A ENST00000395473.2 + 5 1925 c.457G>A c.(457-459)Gtc>Atc p.V153I LGALS9_ENST00000413914.2_Missense_Mutation_p.V96I|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000302228.5_Intron NM_009587.2 NP_033665.1 O00182 LEG9_HUMAN lectin, galactoside-binding, soluble, 9 153 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) CCCCCGCACAGTCCCTGTTCA 0.577000 22 3 0 0 0.00229938 0 0 ABCB5 340273 broad.mit.edu 37 7 20698167 20698167 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:20698167G>A ENST00000404938.2 + 14 2227 c.1575G>A c.(1573-1575)atG>atA p.M525I ABCB5_ENST00000443026.2_Missense_Mutation_p.M80I|ABCB5_ENST00000406935.1_Missense_Mutation_p.M80I|ABCB5_ENST00000258738.6_Missense_Mutation_p.M80I NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 80 ABC transmembrane type-1. E -> K (in dbSNP:rs6461515). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GAGCTCAAATGAGTGGAGGGC 0.423000 32 36 0 0 0.000692331 0 0 EPHB6 2051 broad.mit.edu 37 7 142566359 142566359 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142566359C>T ENST00000392957.2 + 15 2935 c.2148C>T c.(2146-2148)ttC>ttT p.F716F EPHB6_ENST00000411471.2_Silent_p.F439F|EPHB6_ENST00000442129.1_Silent_p.F716F NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 716 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) AGATGACCTTCCTGGGCCGGG 0.697000 7 25 0 0 0.00198382 0 0 SCN8A 6334 broad.mit.edu 37 12 52174539 52174539 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52174539G>A ENST00000354534.5 + 21 4104 c.3926G>A c.(3925-3927)cGa>cAa p.R1309Q SCN8A_ENST00000545061.1_Intron NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1309 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GCCTTATCACGATTTGAAGGG 0.458000 21 28 0 0 0.00047179 0 0 DSP 1832 broad.mit.edu 37 6 7581406 7581406 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:7581406C>T ENST00000379802.3 + 23 5324 c.4983C>T c.(4981-4983)gtC>gtT p.V1661V DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1661 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTTCTGAGGTCGAGGCCCTGA 0.547000 87 121 0 0 0.000781405 0 0 AMPH 273 broad.mit.edu 37 7 38433665 38433665 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:38433665G>A ENST00000356264.2 - 18 1763 c.1548C>T c.(1546-1548)acC>acT p.T516T AMPH_ENST00000325590.5_Silent_p.T474T|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.T474T NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 516 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CACCCTCAGTGGTTTCAGTTC 0.602000 64 85 0 0 0.000781405 0 0 AGBL1 123624 broad.mit.edu 37 15 87217540 87217540 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:87217540G>A ENST00000441037.2 + 22 3051 c.2956G>A c.(2956-2958)Gga>Aga p.G986R AGBL1_ENST00000389298.3_Missense_Mutation_p.G717R|AGBL1_ENST00000421325.2_Missense_Mutation_p.G986R NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 986 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GGAGGAGATGGGAGCCATGTT 0.517000 7 11 0 0 0.000157383 0 0 C22orf29 79680 broad.mit.edu 37 22 19839297 19839297 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:19839297G>A ENST00000405640.1 - 2 1156 c.488C>T c.(487-489)cCc>cTc p.P163L GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.P163L|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.P163L Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 163 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) GTCAGGCAGGGGCAGGTCCCC 0.582000 33 60 0 0 0.000814825 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759307 121759307 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:121759307C>T ENST00000261367.7 + 6 2444 c.1016C>T c.(1015-1017)tCc>tTc p.S339F SNCAIP_ENST00000379536.2_Missense_Mutation_p.S292F|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S339F|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S292F|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S339F Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 292 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GCAGCAGAATCCAAACCAGAA 0.473000 10 32 0 0 0.000442599 0 0 ZNF418 147686 broad.mit.edu 37 19 58437585 58437585 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58437585G>A ENST00000396147.1 - 4 2255 c.1964C>T c.(1963-1965)tCa>tTa p.S655L ZNF418_ENST00000599852.1_Missense_Mutation_p.S570L|ZNF418_ENST00000425570.3_Missense_Mutation_p.S676L|ZNF418_ENST00000595830.1_Missense_Mutation_p.S655L|ZNF418_ENST00000600989.1_Intron NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 655 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TCGATGAAATGATTTTCCACA 0.413000 21 113 0 0 0.00152264 0 0 CD163L1 283316 broad.mit.edu 37 12 7586219 7586219 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7586219G>A ENST00000313599.3 - 3 253 c.196C>T c.(196-198)Cag>Tag p.Q66* CD163L1_ENST00000396630.1_Nonsense_Mutation_p.Q66*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.Q66* Q9NR16 C163B_HUMAN CD163 molecule-like 1 66 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CACTGTCCCTGGAATTTCACC 0.493000 28 73 0 0 0.00209593 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22259571 22259571 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:22259571C>T ENST00000344041.6 - 9 763 c.451G>A c.(451-453)Gga>Aga p.G151R RAPGEF5_ENST00000405243.1_Missense_Mutation_p.G304R|RAPGEF5_ENST00000475788.1_5'UTR NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 0 N-terminal Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCAATTCGTCCGATTTCATCT 0.438000 16 28 0 0 0.000422831 0 0 COL12A1 1303 broad.mit.edu 37 6 75855928 75855928 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:75855928C>T ENST00000322507.8 - 24 4759 c.4450G>A c.(4450-4452)Gat>Aat p.D1484N COL12A1_ENST00000416123.2_Missense_Mutation_p.D1484N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D1484N|COL12A1_ENST00000345356.6_Missense_Mutation_p.D320N NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1484 Fibronectin type-III 10. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGGCCAACATCATAAATATTC 0.453000 24 6 0 0 0.000586117 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995998 140995998 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140995998G>A ENST00000285879.4 + 4 3094 c.2808G>A c.(2806-2808)acG>acA p.T936T MAGEC1_ENST00000406005.2_Silent_p.T3T NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 936 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGATGCTGACGAATGTCATCA 0.468000 HNSCC(15;0.026) 60 12 0 0 0.000781405 0 0 C11orf30 56946 broad.mit.edu 37 11 76255759 76255759 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:76255759C>T ENST00000529032.1 + 18 3166 c.3166C>T c.(3166-3168)Cct>Tct p.P1056S C11orf30_ENST00000524767.1_Missense_Mutation_p.P1071S|C11orf30_ENST00000343878.3_Missense_Mutation_p.P1056S|C11orf30_ENST00000533248.1_Missense_Mutation_p.P965S|C11orf30_ENST00000525919.1_Missense_Mutation_p.P1057S|C11orf30_ENST00000525038.1_Missense_Mutation_p.P1057S|C11orf30_ENST00000334736.3_Missense_Mutation_p.P1056S|C11orf30_ENST00000524490.1_Missense_Mutation_p.P958S Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1056 Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GCAGCAGCTCCCTAAACTGCA 0.552000 14 55 0 0 0.00185496 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585174 70585174 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:70585174G>A ENST00000260126.3 - 10 3183 c.2477C>T c.(2476-2478)cCa>cTa p.P826L SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P771L NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 826 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TATTGCTTCTGGGAAGGGCCC 0.562000 45 54 0 0 0.000781405 0 0 COL27A1 85301 broad.mit.edu 37 9 117051536 117051536 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:117051536C>T ENST00000356083.3 + 45 4558 c.4167C>T c.(4165-4167)ccC>ccT p.P1389P NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1389 Collagen-like 13.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 ATCCGGGACCCCGGGGGTGGC 0.677000 7 2 0 0 0.000274275 0 0 M1AP 130951 broad.mit.edu 37 2 74803660 74803660 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:74803660G>A ENST00000290536.5 - 6 971 c.855C>T c.(853-855)gaC>gaT p.D285D M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Silent_p.D285D|M1AP_ENST00000409585.1_Silent_p.D285D|M1AP_ENST00000358434.2_Silent_p.D3D NM_138804.3 NP_620159.2 meiosis 1 associated protein CTCCTTTAGGGTCATCCATTC 0.512000 27 27 0 0 0.000878237 0 0 CCNY 219771 broad.mit.edu 37 10 35857996 35857996 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:35857996C>T ENST00000374704.4 + 10 1104 c.924C>T c.(922-924)ctC>ctT p.L308L CCNY_ENST00000339497.5_Silent_p.L283L|CCNY_ENST00000265375.9_Silent_p.L254L|CCNY_ENST00000374706.1_Silent_p.L254L NM_145012.4 NP_659449.3 Q8ND76 CCNY_HUMAN cyclin Y 308 cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 TCTCTCGCCTCTGCGAGGACA 0.612000 21 13 0 0 0.00121646 0 0 ZNF799 90576 broad.mit.edu 37 19 12502327 12502327 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:12502327G>A ENST00000419318.1 - 4 1538 c.789C>T c.(787-789)tcC>tcT p.S263S ZNF799_ENST00000430385.3_Silent_p.S295S|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 GTCTTCGAAGGGAAGTGGAAG 0.433000 44 82 0 0 0.000509022 0 0 SLC28A2 9153 broad.mit.edu 37 15 45559976 45559976 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:45559976G>A ENST00000347644.3 + 12 1246 c.1181G>A c.(1180-1182)gGg>gAg p.G394E CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 394 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AGTGAGGAGGGGGTAAAGCTG 0.547000 78 113 0 0 0.000781405 0 0 SLC2A5 6518 broad.mit.edu 37 1 9100210 9100210 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:9100210C>T ENST00000377424.4 - 6 789 c.610G>A c.(610-612)Gcg>Acg p.A204T SLC2A5_ENST00000535586.1_Missense_Mutation_p.A89T|SLC2A5_ENST00000377414.3_3'UTR|SLC2A5_ENST00000536305.1_Missense_Mutation_p.A145T NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 204 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) AGCTGCAGCGCCGCGGGGACC 0.682000 3 0 0 0 6.4e-05 0 0 GP9 2815 broad.mit.edu 37 3 128780669 128780669 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:128780669G>A ENST00000307395.4 + 3 309 c.87G>A c.(85-87)ctG>ctA p.L29L NM_000174.3 NP_000165.1 P14770 GPIX_HUMAN glycoprotein IX (platelet) 29 LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) GCCGCGCCCTGGAAACCATGG 0.701000 9 10 0 0 0.000442599 0 0 ADRA1A 148 broad.mit.edu 37 8 26623663 26623663 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:26623663C>T ENST00000354550.4 - 3 1472 c.1273G>A c.(1273-1275)Gga>Aga p.G425R ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron NM_033304.2 NP_150647.2 P35348 ADA1A_HUMAN adrenoceptor alpha 1A 0 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CAATCCATTCCCCTCTGTCCA 0.378000 8 46 0 0 0.000274275 0 0 OR6F1 343169 broad.mit.edu 37 1 247875297 247875297 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247875297G>A ENST00000302084.2 - 1 808 c.761C>T c.(760-762)tCc>tTc p.S254F RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GAAAACTGTGGACCCATACCA 0.537000 17 91 0 0 0.000566183 0 0 TIMP4 7079 broad.mit.edu 37 3 12195893 12195893 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:12195893C>G ENST00000287814.4 - 4 921 c.411G>C c.(409-411)tgG>tgC p.W137C SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 137 NTR. metal ion binding|metalloendopeptidase inhibitor activity p.W137C(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 ACAGGTCCTCCCAGGGCTCGA 0.493000 59 259 0 0 0.000781405 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184532 72184532 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72184532C>T ENST00000537465.1 - 5 769 c.611G>A c.(610-612)gGg>gAg p.G204E PMFBP1_ENST00000355636.6_Missense_Mutation_p.G59E|PMFBP1_ENST00000237353.10_Missense_Mutation_p.G204E Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 204 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GCCGAGTTCCCCCTGCAACAT 0.527000 47 106 0 0 0.000781405 0 0 SHISA4 149345 broad.mit.edu 37 1 201860657 201860657 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:201860657C>T ENST00000362011.6 + 4 795 c.508C>T c.(508-510)Cca>Tca p.P170S SHISA4_ENST00000464117.1_3'UTR NM_198149.2 NP_937792.2 Q96DD7 SHSA4_HUMAN shisa family member 4 170 Pro-rich. integral to membrane kidney(1)|lung(4) 5 TCCCCAATATCCACTCTACCC 0.612000 44 42 0 0 0.000781405 0 0 OTOGL 283310 broad.mit.edu 37 12 80717528 80717528 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:80717528G>A ENST00000458043.2 + 34 4086 c.4080G>A c.(4078-4080)agG>agA p.R1360R OTOGL_ENST00000547103.1_Silent_p.R1360R NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGCCTTACAGGAAGATGTGTG 0.368000 27 22 0 0 0.00106085 0 0 NUTM1 256646 broad.mit.edu 37 15 34647955 34647955 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34647955G>A ENST00000537011.1 + 8 2128 c.1746G>A c.(1744-1746)ggG>ggA p.G582G NUTM1_ENST00000438749.3_Silent_p.G572G|NUTM1_ENST00000333756.4_Silent_p.G554G NUT midline carcinoma, family member 1 ACAGGGATGGGAACACTCTGC 0.592000 38 53 0 0 0.00128727 0 0 FCRL1 115350 broad.mit.edu 37 1 157773774 157773774 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:157773774G>A ENST00000358292.3 - 3 231 c.180C>T c.(178-180)gcC>gcT p.A60A FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.A60A|FCRL1_ENST00000368176.3_Silent_p.A60A NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 60 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity p.A60A(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTGGGCCCAAGGCCCGGGTGT 0.577000 57 34 0 0 0.000781405 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962753 73962753 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:73962753G>A ENST00000373468.1 - 3 2290 c.1639C>T c.(1639-1641)Cgc>Tgc p.R547C KIAA2022_ENST00000055682.5_Missense_Mutation_p.R547C Q5QGS0 K2022_HUMAN KIAA2022 547 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CCTTTAAAGCGATTAATGATG 0.403000 27 3 0 0 0.00127121 0 0 STARD4 134429 broad.mit.edu 37 5 110835631 110835631 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:110835631C>T ENST00000296632.3 - 6 705 c.571G>A c.(571-573)Gca>Aca p.A191T STARD4_ENST00000512160.1_3'UTR NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 191 START. lipid transport lipid binding p.A191T(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) AAAGTGCTTGCCATGGCTGTA 0.408000 20 53 0 0 0.000375601 0 0 ZNF709 163051 broad.mit.edu 37 19 12575850 12575850 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:12575850G>A ENST00000397732.3 - 4 1057 c.886C>T c.(886-888)Cga>Tga p.R296* CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Nonsense_Mutation_p.R296* NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TCATGACTTCGAAAGGATGTG 0.363000 17 11 0 0 0.000566183 0 0 SLC11A2 4891 broad.mit.edu 37 12 51382183 51382183 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:51382183G>A ENST00000394904.3 - 16 1747 c.1698C>T c.(1696-1698)ttC>ttT p.F566F SLC11A2_ENST00000545993.2_Silent_p.F533F|SLC11A2_ENST00000547198.1_Silent_p.F537F|SLC11A2_ENST00000541174.2_Silent_p.F537F|SLC11A2_ENST00000262051.7_Silent_p.F537F|SLC11A2_ENST00000262052.5_Silent_p.F537F|SLC11A2_ENST00000546743.1_Silent_p.F458F|SLC11A2_ENST00000547688.1_Silent_p.F566F NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 537 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 CACAGTCCAGGAAGGACATGC 0.488000 34 42 0 0 0.00148497 0 0 ZNF597 146434 broad.mit.edu 37 16 3486990 3486990 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3486990C>T ENST00000301744.4 - 4 944 c.709G>A c.(709-711)Gag>Aag p.E237K LA16c-306E5.2_ENST00000575785.1_RNA NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 TAGGGCTTCTCCTTTACGTGG 0.473000 18 47 0 0 0.00074312 0 0 OR52K2 119774 broad.mit.edu 37 11 4471211 4471211 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:4471211C>T ENST00000325719.4 + 1 687 c.642C>T c.(640-642)ctC>ctT p.L214L NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGACCTGCTCCTTGTTATCC 0.488000 28 78 0 0 0.0024448 0 0 GRID2 2895 broad.mit.edu 37 4 94006212 94006212 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:94006212C>T ENST00000282020.4 + 3 569 c.311C>T c.(310-312)tCc>tTc p.S104F GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 104 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.S104Y(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCAGCAGGATCCCTCCAGTCT 0.537000 18 19 0 0 0.00074312 0 0 SH3TC2 79628 broad.mit.edu 37 5 148422391 148422391 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:148422391G>A ENST00000515425.1 - 5 496 c.395C>T c.(394-396)tCc>tTc p.S132F SH3TC2_ENST00000512049.1_Intron|SH3TC2_ENST00000394358.2_Missense_Mutation_p.S17F NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 132 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGACACATGGATACGTAGCC 0.428000 24 19 0 0 0.00127121 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891129 18891129 + Translation_Start_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:18891129G>A ENST00000317658.3 + 0 85 NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TGATGGGAAAGGTGGCTCATG 0.443000 17 33 0 0 0.000422831 0 0 ZNF17 7565 broad.mit.edu 37 19 57932645 57932645 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57932645C>T ENST00000307658.7 + 4 2054 c.1791C>T c.(1789-1791)tcC>tcT p.S597S AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Silent_p.S595S P17021 ZNF17_HUMAN zinc finger protein 17 595 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TGGACAGCTCCACACTCATTA 0.398000 41 34 0 0 0.00195071 0 0 ART1 417 broad.mit.edu 37 11 3685408 3685408 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:3685408G>A ENST00000250693.1 + 5 1074 c.973G>A c.(973-975)Ggc>Agc p.G325S NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 325 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) AGATGGTCCAGGCCTCCTTTG 0.577000 41 56 0 0 0.000781405 0 0 MUC4 4585 broad.mit.edu 37 3 195517616 195517616 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:195517616C>T ENST00000463781.3 - 2 1294 c.835G>A c.(835-837)Gag>Aag p.E279K MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E279K|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 284 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GATGATGTCTCCCCTGGGTTT 0.468000 52 39 0 0 0.000781405 0 0 FAT4 79633 broad.mit.edu 37 4 126239462 126239462 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:126239462C>T ENST00000394329.3 + 1 1909 c.1896C>T c.(1894-1896)ttC>ttT p.F632F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 632 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGAGGTCCTTCCGTCTGGATC 0.552000 15 25 0 0 0.000308642 0 0 CPN1 1369 broad.mit.edu 37 10 101835787 101835787 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:101835787C>T ENST00000370418.3 - 2 552 c.301G>A c.(301-303)Gag>Aag p.E101K NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 101 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CACAGAAACTCCGACAGCTGC 0.577000 40 14 0 0 0.00195071 0 0 OR8K5 219453 broad.mit.edu 37 11 55927433 55927433 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:55927433C>T ENST00000313447.1 - 1 360 c.361G>A c.(361-363)Gac>Aac p.D121N NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ACATAGCGGTCATAGGCCATG 0.418000 48 50 0 0 0.000680045 0 0 TRPM2 7226 broad.mit.edu 37 21 45837819 45837819 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:45837819C>T ENST00000397928.1 + 21 3601 c.3156C>T c.(3154-3156)ttC>ttT p.F1052F TRPM2_ENST00000397932.2_Silent_p.F1052F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.F1032F|TRPM2_ENST00000300482.5_Silent_p.F1052F NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1052 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GCTACACCTTCCAGCAGGTGC 0.627000 23 40 0 0 0.000878237 0 0 BFSP2 8419 broad.mit.edu 37 3 133166238 133166238 + Silent SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:133166238A>G ENST00000302334.2 + 2 656 c.567A>G c.(565-567)aaA>aaG p.K189K RP11-91K8.1_ENST00000515542.1_RNA NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 189 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 ATGACTTTAAAGAGAGGTAAT 0.517000 8 35 0 0 0.000157383 0 0 CSTF2T 23283 broad.mit.edu 37 10 53458236 53458236 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:53458236G>A ENST00000331173.4 - 1 1119 c.1074C>T c.(1072-1074)ccC>ccT p.P358P PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 358 Gly-rich. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GACCCTGATGGGGTGGACCCA 0.562000 36 28 0 0 0.000692331 0 0 TRIOBP 11078 broad.mit.edu 37 22 38130867 38130867 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:38130867G>A ENST00000406386.3 + 9 4779 c.4524G>A c.(4522-4524)aaG>aaA p.K1508K RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1508 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AACTAGGAAAGAGAAGCCCAC 0.647000 35 24 0 0 0.000692331 0 0 NGEF 25791 broad.mit.edu 37 2 233839559 233839559 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:233839559C>T ENST00000264051.3 - 2 320 c.42G>A c.(40-42)agG>agA p.R14R NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 14 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TTGCTGATTTCCTCCGGGTCT 0.458000 55 60 0 0 0.000781405 0 0 TRHR 7201 broad.mit.edu 37 8 110100064 110100064 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:110100064G>A ENST00000518632.1 + 2 674 c.323G>A c.(322-324)gGa>gAa p.G108E TRHR_ENST00000311762.2_Missense_Mutation_p.G108E P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 108 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CAGTATTTGGGAATTAATGCA 0.463000 85 48 0 0 0.000781405 0 0 IDE 3416 broad.mit.edu 37 10 94268591 94268591 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:94268591G>A ENST00000265986.6 - 7 1010 c.954C>T c.(952-954)ccC>ccT p.P318P NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 318 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTCAGGTATGGGAAATGTCA 0.368000 299 63 0 0 0.000781405 0 0 C3 718 broad.mit.edu 37 19 6685135 6685135 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:6685135G>A ENST00000245907.6 - 30 3925 c.3833C>T c.(3832-3834)gCc>gTc p.A1278V NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1278 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TTGAGCCAAGGCTTGGAACAC 0.542000 14 11 0 0 0.000422831 0 0 CWH43 80157 broad.mit.edu 37 4 49019273 49019273 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:49019273G>A ENST00000226432.4 + 9 1377 c.1194G>A c.(1192-1194)tgG>tgA p.W398* CWH43_ENST00000513409.1_Nonsense_Mutation_p.W371* NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 398 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TAGTTCTGTGGCTGCTTGTTG 0.358000 27 28 0 0 0.0024448 0 0 SOBP 55084 broad.mit.edu 37 6 107955662 107955662 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:107955662C>T ENST00000317357.5 + 6 2273 c.1614C>T c.(1612-1614)ccC>ccT p.P538P NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 538 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) TGCCCATCCCCATCCCCATCC 0.667000 17 2 0 0 0.000958276 0 0 MROH7 374977 broad.mit.edu 37 1 55166006 55166006 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:55166006G>A ENST00000545244.1 + 15 1807 c.1566G>A c.(1564-1566)tgG>tgA p.W522* MROH7_ENST00000409996.1_Missense_Mutation_p.E561K|MROH7_ENST00000454855.2_Missense_Mutation_p.E511K|MROH7_ENST00000421030.2_Missense_Mutation_p.E993K|MROH7_ENST00000414150.2_Missense_Mutation_p.E993K maestro heat-like repeat family member 7 CCTCCAGATGGAGCAGGTGCG 0.622000 20 11 0 0 0.00121646 0 0 PDE11A 50940 broad.mit.edu 37 2 178592780 178592780 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:178592780C>T ENST00000286063.5 - 11 2226 c.1909G>A c.(1909-1911)Gta>Ata p.V637I PDE11A_ENST00000449286.2_Missense_Mutation_p.V279I|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Missense_Mutation_p.V193I|PDE11A_ENST00000409504.1_Missense_Mutation_p.V279I|PDE11A_ENST00000358450.4_Missense_Mutation_p.V387I NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 637 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) AATTTCTGTACCATCCCCAGC 0.458000 Primary Pigmented Nodular Adrenocortical Disease, Familial 14 32 0 0 0.000219431 0 0 SGSM1 129049 broad.mit.edu 37 22 25280142 25280142 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:25280142G>A ENST00000400358.4 + 15 1675 c.1618G>A c.(1618-1620)Gag>Aag p.E540K SGSM1_ENST00000400359.4_Missense_Mutation_p.E595K NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 595 Golgi apparatus Rab GTPase activator activity p.E540K(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CAGGATCTGGGAGCAGTACCT 0.552000 19 37 0 0 0.00152264 0 0 TOX3 27324 broad.mit.edu 37 16 52497888 52497888 + Silent SNP G G A rs147213203 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:52497888G>A ENST00000219746.9 - 3 650 c.366C>T c.(364-366)ctC>ctT p.L122L TOX3_ENST00000407228.3_Silent_p.L117L NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 122 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 CTTGTTCCACGAGATTTCTTG 0.433000 66 53 0 0 0.000781405 0 0 RASGRP4 115727 broad.mit.edu 37 19 38912609 38912609 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38912609C>T ENST00000454404.2 - 2 421 c.208_splice c.e2+1 p.D70_splice RASGRP4_ENST00000587753.1_Splice_Site_p.D70_splice|RASGRP4_ENST00000426920.2_Splice_Site_p.D70_splice|RASGRP4_ENST00000433821.2_Splice_Site_p.D70_splice|RASGRP4_ENST00000586305.1_Splice_Site_p.D70_splice|RASGRP4_ENST00000587738.1_Splice_Site_p.D70_splice|RASGRP4_ENST00000293062.9_Splice_Site_p.D70_splice NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 70 N-terminal Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGACACTTACCGAAGGACTGG 0.572000 3 8 0 0 6.4e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9089251 9089251 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9089251G>A ENST00000397910.4 - 1 2767 c.2564C>T c.(2563-2565)cCt>cTt p.P855L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 855 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGAGTGGAAGGAGTAGATGA 0.463000 41 27 0 0 0.00170553 0 0 SPTA1 6708 broad.mit.edu 37 1 158607858 158607858 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158607858G>A ENST00000368148.3 - 36 5334 c.5154C>T c.(5152-5154)ttC>ttT p.F1718F SPTA1_ENST00000368147.3_Silent_p.F1718F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1718 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GATCCTGGAAGAACTGGAACA 0.413000 32 86 0 0 0.00058488 0 0 NBEAP1 606 broad.mit.edu 37 15 20876510 20876510 + RNA SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:20876510A>G ENST00000556948.1 - 0 90 TGCTTCAGCAAAGGTACTCCA 0.333000 11 110 0 0 0.000673444 0 0 ZNF488 118738 broad.mit.edu 37 10 48371305 48371305 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:48371305C>T ENST00000395702.2 + 2 1000 c.773C>T c.(772-774)tCg>tTg p.S258L ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.S151L Q96MN9 ZN488_HUMAN zinc finger protein 488 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 TCCACCACTTCGTGGGCCCTC 0.612000 34 19 0 0 0.000491102 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6081952 6081952 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:6081952A>G ENST00000409021.3 - 7 1638 c.1189T>C c.(1189-1191)Ttc>Ctc p.F397L JAKMIP1_ENST00000409831.1_Missense_Mutation_p.F397L|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.F397L|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.F232L|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.F232L NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 397 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCCTCAGGAACTCGATCTCC 0.607000 15 13 0 0 0.000308642 0 0 KIAA1549 57670 broad.mit.edu 37 7 138591708 138591708 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:138591708C>T ENST00000440172.1 - 6 3465 c.3417G>A c.(3415-3417)gaG>gaA p.E1139E KIAA1549_ENST00000242365.4_Silent_p.E1089E|KIAA1549_ENST00000422774.1_Silent_p.E1139E NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1139 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AGAAACTGAACTCCACCACAC 0.532000 O BRAF pilocytic astrocytoma 30 68 0 0 0.000692331 0 0 MTUS2 23281 broad.mit.edu 37 13 29599316 29599316 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:29599316G>A ENST00000431530.3 + 1 569 c.511G>A c.(511-513)Gat>Aat p.D171N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 161 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TGTTCCCAAGGATAAACTGGC 0.517000 25 58 0 0 0.00106085 0 0 SIK1 150094 broad.mit.edu 37 21 44839251 44839251 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:44839251G>A ENST00000270162.6 - 10 1359 c.1227C>T c.(1225-1227)ctC>ctT p.L409L NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 409 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GCGAGCTCTGGAGCTCACAGT 0.677000 13 14 0 0 0.00136819 0 0 CLEC6A 93978 broad.mit.edu 37 12 8610512 8610512 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:8610512C>T ENST00000382073.3 + 2 236 c.50C>T c.(49-51)tCc>tTc p.S17F NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 17 defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) GGCTGGTTGTCCCTGAGACTC 0.488000 37 18 0 0 0.000953801 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48133942 48133942 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:48133942G>A ENST00000405493.2 - 23 2438 c.2229C>T c.(2227-2229)tcC>tcT p.S743S RAPGEF3_ENST00000171000.4_Silent_p.S743S|RAPGEF3_ENST00000548919.1_Silent_p.S676S|RAPGEF3_ENST00000549151.1_Silent_p.S743S|RAPGEF3_ENST00000389212.3_Silent_p.S785S|RAPGEF3_ENST00000449771.2_Silent_p.S785S|RP1-197B17.3_ENST00000547799.1_lincRNA NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 743 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TCTCGAGGGCGGAGTACAGCT 0.667000 20 9 0 0 0.000586117 0 0 BRPF3 27154 broad.mit.edu 37 6 36193062 36193062 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:36193062C>T ENST00000357641.6 + 11 3453 c.3200C>T c.(3199-3201)cCc>cTc p.P1067L BRPF3_ENST00000543502.1_Missense_Mutation_p.P797L|BRPF3_ENST00000534400.1_Intron|BRPF3_ENST00000443324.2_Missense_Mutation_p.P733L|BRPF3_ENST00000534694.1_Missense_Mutation_p.P733L|BRPF3_ENST00000339717.7_Missense_Mutation_p.P797L NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1067 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CTCCTGCTGCCCTTTGAAGAC 0.652000 9 25 0 0 0.000978159 0 0 ZNF583 147949 broad.mit.edu 37 19 56935651 56935651 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56935651C>T ENST00000333201.9 + 5 1834 c.1624C>T c.(1624-1626)Cat>Tat p.H542Y ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.H542Y NM_001159861.1|NM_152478.2 NP_001153333.1|NP_689691.2 Q96ND8 ZN583_HUMAN zinc finger protein 583 542 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) TGAGAGAATTCATactatgga 0.418000 10 62 0 0 0.000978159 0 0 PSMD10 5716 broad.mit.edu 37 X 107331010 107331010 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:107331010G>A ENST00000217958.3 - 4 530 c.433C>T c.(433-435)Cgg>Tgg p.R145W PSMD10_ENST00000340200.5_Missense_Mutation_p.R112W|PSMD10_ENST00000361815.5_Missense_Mutation_p.R145W|PSMD10_ENST00000372295.1_Missense_Mutation_p.R104W|PSMD10_ENST00000372296.1_Missense_Mutation_p.R104W NM_002814.3|NM_170750.2 NP_002805.1|NP_736606.1 O75832 PSD10_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 145 Interaction with RELA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 GCTGCTGCCCGGTGCATTGCT 0.458000 44 6 0 0 0.000781405 0 0 DNAH10 196385 broad.mit.edu 37 12 124270395 124270395 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:124270395G>A ENST00000409039.3 + 9 1175 c.1150G>A c.(1150-1152)Gac>Aac p.D384N NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 384 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTACAACAAAGACGAGAGGAT 0.562000 47 29 0 0 0.000781405 0 0 COL24A1 255631 broad.mit.edu 37 1 86289269 86289269 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:86289269C>T ENST00000370571.2 - 45 4105 c.3739G>A c.(3739-3741)Gaa>Aaa p.E1247K COL24A1_ENST00000436319.1_Missense_Mutation_p.E1247K NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1247 Collagen-like 13. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCACCTGGTTCGCCCTTTAGT 0.313000 14 76 0 0 0.00185496 0 0 ADAM2 2515 broad.mit.edu 37 8 39604031 39604031 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:39604031G>A ENST00000265708.4 - 19 2237 c.2134C>T c.(2134-2136)Caa>Taa p.Q712* ADAM2_ENST00000347580.4_Nonsense_Mutation_p.Q693*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.Q649*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.Q556* NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 712 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTTTTCCTTTGGAAATTAACT 0.284000 56 82 0 0 0.000781405 0 0 NEBL 10529 broad.mit.edu 37 10 21120197 21120197 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:21120197C>T ENST00000377122.4 - 16 1995 c.1599G>A c.(1597-1599)ggG>ggA p.G533G NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 533 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCATTCCTTTCCCTTTAATTT 0.353000 15 46 0 0 0.000308642 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45675348 45675348 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:45675348G>A ENST00000310806.4 - 15 3636 c.3178C>T c.(3178-3180)Cgt>Tgt p.R1060C NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 1060 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 TTTTGCATACGAAAAACATAT 0.259000 12 37 0 0 0.000422831 0 0 PROX2 283571 broad.mit.edu 37 14 75329637 75329637 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:75329637C>T ENST00000556489.2 - 1 900 c.901G>A c.(901-903)Gga>Aga p.G301R PROX2_ENST00000445876.1_Missense_Mutation_p.G301R|PROX2_ENST00000556084.2_Intron NM_001243007.1 NP_001229936.1 Q3B8N5 PROX2_HUMAN prospero homeobox 2 301 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GATAAATTTCCTACTGGGACC 0.552000 59 37 0 0 0.000781405 0 0 CPNE4 131034 broad.mit.edu 37 3 131404763 131404763 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:131404763G>A ENST00000512055.1 - 10 2673 c.547C>T c.(547-549)Cgt>Tgt p.R183C CPNE4_ENST00000502818.1_Missense_Mutation_p.R201C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R183C|CPNE4_ENST00000512332.1_Missense_Mutation_p.R201C|CPNE4_ENST00000511604.1_Missense_Mutation_p.R183C Q96A23 CPNE4_HUMAN copine IV 183 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TCATTCATACGAAAAATTTCC 0.383000 11 28 0 0 0.00136819 0 0 FBXO18 84893 broad.mit.edu 37 10 5979201 5979201 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:5979201C>T ENST00000379994.1 + 11 1280 c.1198C>T c.(1198-1200)Cgt>Tgt p.R400C FBXO18_ENST00000362091.4_Silent_p.I1030I|FBXO18_ENST00000379999.5_Silent_p.I1081I|FBXO18_ENST00000397269.3_Silent_p.I534I|RP11-536K7.3_ENST00000397264.3_RNA Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 0 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 TGGAGAACATCGTACTGCCCC 0.662000 11 3 0 0 0.00136819 0 0 MTMR12 54545 broad.mit.edu 37 5 32242174 32242174 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:32242174A>G ENST00000382142.3 - 12 1330 c.1160T>C c.(1159-1161)gTt>gCt p.V387A MTMR12_ENST00000264934.5_Missense_Mutation_p.V387A|MTMR12_ENST00000280285.5_Missense_Mutation_p.V387A NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 387 Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TAAAAGAAGAACATTCATGTT 0.328000 19 39 0 0 0.00229938 0 0 MYSM1 114803 broad.mit.edu 37 1 59147793 59147793 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:59147793G>A ENST00000472487.1 - 8 962 c.923C>T c.(922-924)tCa>tTa p.S308L MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 308 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) TAATTCAATTGATTTTTTGTC 0.373000 103 58 0 0 0.000781405 0 0 OR4K17 390436 broad.mit.edu 37 14 20585689 20585689 + Missense_Mutation SNP G G A rs148373137 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:20585689G>A ENST00000315543.4 + 1 124 c.124G>A c.(124-126)Gaa>Aaa p.E42K NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TCAAGTGTCAGAATTCATTTT 0.438000 63 113 0 0 0.000781405 0 0 AJUBA 84962 broad.mit.edu 37 14 23451387 23451387 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:23451387G>A ENST00000262713.2 - 1 464 c.89C>T c.(88-90)aCc>aTc p.T30I RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.T30I NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 30 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CGGCCCGGGGGTCCCGTCAGA 0.672000 39 20 0 0 0.000953801 0 0 CNTN6 27255 broad.mit.edu 37 3 1414033 1414033 + Missense_Mutation SNP G G A rs138019615 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:1414033G>A ENST00000446702.2 + 13 2170 c.1543G>A c.(1543-1545)Gag>Aag p.E515K CNTN6_ENST00000539053.1_Missense_Mutation_p.E443K|CNTN6_ENST00000350110.2_Missense_Mutation_p.E515K Q9UQ52 CNTN6_HUMAN contactin 6 515 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TACAGTTGGCGAGAGTATAGT 0.388000 34 31 0 0 0.00148497 0 0 SLC7A2 6542 broad.mit.edu 37 8 17417988 17417988 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:17417988C>T ENST00000470360.1 + 11 1684 c.1567C>T c.(1567-1569)Ctt>Ttt p.L523F SLC7A2_ENST00000494857.1_Missense_Mutation_p.L484F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L523F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L524F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L484F P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 484 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) CTGCCCCTCCCTTCTGCCAAC 0.537000 19 69 0 0 0.00229938 0 0 ACE2 59272 broad.mit.edu 37 X 15610379 15610379 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:15610379G>A ENST00000427411.1 - 4 628 c.412C>T c.(412-414)Cca>Tca p.P138S ACE2_ENST00000252519.3_Missense_Mutation_p.P138S NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 138 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) CATTCTTGTGGATTATCTGGG 0.294000 126 6 0 0 0.000781405 0 0 AKR1D1 6718 broad.mit.edu 37 7 137790090 137790090 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:137790090C>T ENST00000242375.3 + 5 536 c.494C>T c.(493-495)tCc>tTc p.S165F AKR1D1_ENST00000432161.1_Missense_Mutation_p.S165F|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Intron NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 165 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TTGGTGAAATCCCTGGGAGTG 0.483000 49 182 0 0 0.000781405 0 0 PCDH15 65217 broad.mit.edu 37 10 55700729 55700729 + Silent SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:55700729A>C ENST00000373965.2 - 25 3544 c.3150T>G c.(3148-3150)ccT>ccG p.P1050P PCDH15_ENST00000395432.2_Silent_p.P1006P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.P1050P|PCDH15_ENST00000409834.1_Silent_p.P654P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.P1043P|PCDH15_ENST00000437009.1_Silent_p.P972P|PCDH15_ENST00000361849.3_Silent_p.P1043P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P1043P|PCDH15_ENST00000414778.1_Silent_p.P1048P|PCDH15_ENST00000395433.1_Silent_p.P1021P|PCDH15_ENST00000320301.6_Silent_p.P1043P NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1043 Cadherin 10. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CACTTACTGGAGGAGGTCTGC 0.348000 HNSCC(58;0.16) 35 21 0 0 0.000953801 0 0 SCN1A 6323 broad.mit.edu 37 2 166848475 166848475 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:166848475G>A ENST00000423058.2 - 26 5327 c.5310C>T c.(5308-5310)atC>atT p.I1770I SCN1A_ENST00000303395.4_Silent_p.I1770I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I1759I|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.I1742I NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1770 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGGATATGATGATGTAACTGA 0.463000 66 85 0 0 0.000781405 0 0 KIFC2 90990 broad.mit.edu 37 8 145692697 145692697 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145692697C>T ENST00000301332.2 + 4 819 c.442C>T c.(442-444)Cct>Tct p.P148S NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 148 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCAGCCAGCCCCTCGGGTCCG 0.627000 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 103 60 0 0 0.000781405 0 0 SCTR 6344 broad.mit.edu 37 2 120252038 120252038 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:120252038C>T ENST00000019103.5 - 2 426 c.159G>A c.(157-159)caG>caA p.Q53Q NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 53 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) GGTCTCCTGTCTGCTCTCTGG 0.602000 15 20 0 0 0.000219431 0 0 ABCA4 24 broad.mit.edu 37 1 94487467 94487467 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:94487467G>A ENST00000370225.3 - 33 4794 c.4708C>T c.(4708-4710)Ccc>Tcc p.P1570S NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1570 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCCGTGATGGGGACGACTGGG 0.498000 60 26 0 0 0.000781405 0 0 EML5 161436 broad.mit.edu 37 14 89181355 89181355 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:89181355C>T ENST00000554922.1 - 9 1620 c.1372G>A c.(1372-1374)Gac>Aac p.D458N EML5_ENST00000380664.5_Missense_Mutation_p.D458N|EML5_ENST00000352093.5_Missense_Mutation_p.D458N NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 458 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GAAGACCAGTCCAGATGAGTG 0.373000 24 41 0 0 0.000586117 0 0 PAG1 55824 broad.mit.edu 37 8 81888983 81888983 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:81888983G>A ENST00000220597.4 - 9 1805 c.1095C>T c.(1093-1095)ttC>ttT p.F365F NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 365 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) GAGTTTTTTCGAAGTCTTTAA 0.507000 21 46 0 0 0.00188189 0 0 ARID2 196528 broad.mit.edu 37 12 46246257 46246257 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:46246257C>T ENST00000334344.6 + 15 4523 c.4351C>T c.(4351-4353)Cct>Tct p.P1451S ARID2_ENST00000422737.1_Missense_Mutation_p.P1302S|ARID2_ENST00000444670.1_Missense_Mutation_p.P1061S|ARID2_ENST00000457135.1_Missense_Mutation_p.P59S|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1451 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GCTTAATGGACCTCTAGCTTC 0.433000 """N, S, F""" hepatocellular carcinoma 24 70 0 0 0.000720815 0 0 NCR1 9437 broad.mit.edu 37 19 55417934 55417934 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55417934G>A ENST00000594765.1 + 3 149 c.124G>A c.(124-126)Gaa>Aaa p.E42K NCR1_ENST00000447255.1_Missense_Mutation_p.E42K|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000598576.1_Missense_Mutation_p.E30K|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.E42K|NCR1_ENST00000291890.4_Missense_Mutation_p.E42K O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 42 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GGTTCCAAAGGAAAAGCAAGT 0.547000 73 57 0 0 0.000781405 0 0 ECEL1 9427 broad.mit.edu 37 2 233346557 233346557 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:233346557G>A ENST00000304546.1 - 13 2009 c.1799C>T c.(1798-1800)tCt>tTt p.S600F ECEL1_ENST00000409941.1_Missense_Mutation_p.S598F NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 600 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GTAGTTGAGAGACCTGGGCCC 0.682000 14 31 0 0 0.000308642 0 0 SAMD7 344658 broad.mit.edu 37 3 169644746 169644746 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:169644746C>T ENST00000428432.2 + 6 1085 c.696C>T c.(694-696)ccC>ccT p.P232P SAMD7_ENST00000335556.3_Silent_p.P232P NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 232 p.P232P(1) NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TTGAAGCACCCAGCAACCAGA 0.483000 18 51 0 0 0.00074312 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667783 70667783 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:70667783T>A ENST00000260126.3 - 4 1840 c.1134A>T c.(1132-1134)aaA>aaT p.K378N SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K378N|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K378N NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 378 Poly-Lys. integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TCTTTTTCTTTTTCTTGTGTC 0.368000 26 42 0 0 0.000586117 0 0 BOD1L1 259282 broad.mit.edu 37 4 13616171 13616171 + Missense_Mutation SNP G G A rs142892563 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:13616171G>A ENST00000040738.5 - 4 958 c.823C>T c.(823-825)Cca>Tca p.P275S NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 275 DNA binding TCAGACTTTGGGGCTGTTTCC 0.393000 20 39 0 0 0.000586117 0 0 CSMD1 64478 broad.mit.edu 37 8 3253824 3253824 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:3253824G>A ENST00000520002.1 - 18 3043 c.2488C>T c.(2488-2490)Cac>Tac p.H830Y CSMD1_ENST00000542608.1_Missense_Mutation_p.H829Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H830Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H829Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.H829Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.H830Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.H830Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 830 CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGGTGCCGTGGTACTCGCCG 0.542000 6 10 0 0 0.000157383 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500135 48500135 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:48500135C>T ENST00000396577.3 + 2 434 c.219C>T c.(217-219)ttC>ttT p.F73F SLC12A1_ENST00000380993.3_Silent_p.F73F|SLC12A1_ENST00000561031.1_Silent_p.F73F|SLC12A1_ENST00000330289.6_Silent_p.F73F|SLC12A1_ENST00000558405.1_Silent_p.F73F NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 73 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ATGACAATTTCCTCCAAAGTG 0.428000 47 45 0 0 0.000589545 0 0 MUC16 94025 broad.mit.edu 37 19 9068232 9068232 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9068232G>A ENST00000397910.4 - 3 19417 c.19214C>T c.(19213-19215)tCc>tTc p.S6405F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6407 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGCTAGAGGAGGTGAGTTC 0.498000 20 48 0 0 0.00121646 0 0 ZC3H18 124245 broad.mit.edu 37 16 88688784 88688784 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:88688784C>T ENST00000301011.5 + 9 1855 c.1655C>T c.(1654-1656)tCt>tTt p.S552F ZC3H18_ENST00000452588.2_Missense_Mutation_p.S576F NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 552 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) GCCTCTGCCTCTAATTCCTCC 0.617000 8 10 0 0 0.000157383 0 0 FAM181A 90050 broad.mit.edu 37 14 94391507 94391507 + Translation_Start_Site SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:94391507A>T ENST00000267594.5 + 0 197 FAM181A_ENST00000557719.1_Intron|FAM181A-AS1_ENST00000554742.1_RNA NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 CTGGCTAAGAAAGGAGAGACA 0.567000 4 7 0 0 0.00024832 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582477 136582477 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:136582477C>T ENST00000531224.1 - 12 2935 c.2683G>A c.(2683-2685)Gat>Aat p.D895N BCLAF1_ENST00000031135.9_Missense_Mutation_p.D113N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D722N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D844N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D846N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D844N|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D893N NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 895 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACAATCCCATCCCCTTGGTAT 0.403000 19 196 0 0 0.00188189 0 0 SPPL2A 84888 broad.mit.edu 37 15 51012216 51012216 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:51012216G>A ENST00000261854.5 - 14 1683 c.1409C>T c.(1408-1410)cCt>cTt p.P470L NM_032802.3 NP_116191.2 Q8TCT8 PSL2_HUMAN signal peptide peptidase like 2A 470 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) AAGTGTGCAAGGTACTAAATA 0.413000 38 32 0 0 0.00148497 0 0 RIPPLY1 92129 broad.mit.edu 37 X 106144060 106144060 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:106144060C>G ENST00000276173.4 - 4 404 c.375G>C c.(373-375)caG>caC p.Q125H RIPPLY1_ENST00000411805.1_Missense_Mutation_p.Q78H|CLDN2_ENST00000541806.1_Intron NM_138382.2 NP_612391.1 Q0D2K3 RIPP1_HUMAN ripply transcriptional repressor 1 125 Ripply homology domain. negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus lung(1)|urinary_tract(1) 2 TGATGGTTGCCTGGACAGGAA 0.493000 14 2 0 0 0.000422831 0 0 PZP 5858 broad.mit.edu 37 12 9349172 9349172 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:9349172C>T ENST00000261336.2 - 9 1005 c.977G>A c.(976-978)gGg>gAg p.G326E PZP_ENST00000381997.2_Missense_Mutation_p.G195E NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CACACCTGTCCCCTCTTCTCT 0.368000 46 34 0 0 0.000781405 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73021159 73021159 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:73021159G>A ENST00000263674.3 + 1 1826 c.1476G>A c.(1474-1476)ggG>ggA p.G492G NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 492 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 AACCTGGTGGGAGCTCCGGGG 0.597000 27 25 0 0 0.0024448 0 0 SAMD7 344658 broad.mit.edu 37 3 169656227 169656227 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:169656227T>A ENST00000428432.2 + 9 1663 c.1274T>A c.(1273-1275)aTg>aAg p.M425K SAMD7_ENST00000335556.3_Missense_Mutation_p.M425K NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 425 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AGTGATACAATGAACATTTTT 0.388000 26 35 0 0 0.000878237 0 0 ANO2 57101 broad.mit.edu 37 12 5685149 5685149 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:5685149G>A ENST00000356134.5 - 25 2546 c.2475C>T c.(2473-2475)atC>atT p.I825I ANO2_ENST00000546188.1_Silent_p.I825I|ANO2_ENST00000327087.8_Silent_p.I824I NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 829 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CCAGGCGGGGGATAAAGTCGG 0.517000 7 9 0 0 0.00198382 0 0 STON1 11037 broad.mit.edu 37 2 48809238 48809238 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:48809238A>T ENST00000309835.3 + 1 1476 c.1466A>T c.(1465-1467)aAg>aTg p.K489M STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.K489M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.K489M|STON1_ENST00000406226.1_Missense_Mutation_p.K489M|STON1_ENST00000404752.1_Missense_Mutation_p.K489M|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.K489M|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.K489M|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.K489M stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CATTTTCATAAGTGTGTGAAT 0.378000 18 55 0 0 0.00074312 0 0 BAI2 576 broad.mit.edu 37 1 32207543 32207543 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:32207543C>T ENST00000373658.3 - 9 1784 c.1443G>A c.(1441-1443)tgG>tgA p.W481* BAI2_ENST00000440175.2_Nonsense_Mutation_p.W123*|BAI2_ENST00000398538.1_Nonsense_Mutation_p.W469*|BAI2_ENST00000257070.4_Nonsense_Mutation_p.W481*|BAI2_ENST00000398556.3_Nonsense_Mutation_p.W429*|BAI2_ENST00000373655.2_Nonsense_Mutation_p.W481*|BAI2_ENST00000398542.1_Nonsense_Mutation_p.W414*|BAI2_ENST00000398547.1_Nonsense_Mutation_p.W414*|BAI2_ENST00000527361.1_Nonsense_Mutation_p.W481* NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 481 TSP type-1 4. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TCCACGCATTCCATGGCCCCC 0.642000 57 29 0 0 0.000781405 0 0 JPH3 57338 broad.mit.edu 37 16 87678642 87678642 + Splice_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:87678642G>A ENST00000284262.2 + 2 1402 c.e2+1 NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CGGCTTCCAGGTAGGAGGGCG 0.672000 10 7 0 0 0.00185496 0 0 TRAV22 28661 broad.mit.edu 37 14 22539378 22539378 + RNA SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:22539378A>G ENST00000390450.3 + 0 371 TGGAAGATTAAGCGCCACGAC 0.473000 38 20 0 0 0.00128727 0 0 MAN2C1 4123 broad.mit.edu 37 15 75648741 75648741 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:75648741G>A ENST00000565683.1 - 24 2849 c.2838C>T c.(2836-2838)ttC>ttT p.F946F MAN2C1_ENST00000267978.5_Silent_p.F929F|MAN2C1_ENST00000569482.1_Intron|MAN2C1_ENST00000563622.1_Silent_p.F830F NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 929 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CCAACAGGGGGAAGTTTAGGC 0.617000 10 23 0 0 0.000978159 0 0 OTOF 9381 broad.mit.edu 37 2 26702507 26702507 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:26702507C>T ENST00000272371.2 - 17 2053 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K OTOF_ENST00000403946.3_Missense_Mutation_p.E643K NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 643 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATCAACTTCGTTCCCATAG 0.627000 12 49 0 0 0.000422831 0 0 GPR114 221188 broad.mit.edu 37 16 57596024 57596024 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:57596024C>T ENST00000340339.4 + 2 542 c.19C>T c.(19-21)Ctt>Ttt p.L7F GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.L7F NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 7 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 CTGTGGTGCCCTTTTCCTGTG 0.552000 21 55 0 0 0.000375601 0 0 ENGASE 64772 broad.mit.edu 37 17 77079621 77079621 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:77079621C>T ENST00000579016.1 + 9 1200 c.1200C>T c.(1198-1200)ttC>ttT p.F400F ENGASE_ENST00000584568.1_3'UTR NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 400 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CCTTGCCTTTCGTCACGTCCT 0.627000 26 24 0 0 0.000491102 0 0 IRF6 3664 broad.mit.edu 37 1 209964072 209964072 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:209964072G>A ENST00000367021.3 - 7 1000 c.828C>T c.(826-828)ttC>ttT p.F276F IRF6_ENST00000542854.1_Silent_p.F181F NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 276 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CAGGACCTGGGAATTTGACCT 0.567000 HNSCC(57;0.16) 35 31 0 0 0.000814825 0 0 TPH1 7166 broad.mit.edu 37 11 18062275 18062275 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18062275G>A ENST00000250018.2 - 1 597 c.35C>T c.(34-36)tCc>tTc p.S12F TPH1_ENST00000341556.2_Missense_Mutation_p.S12F NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 12 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) CCTTTCTAAGGAATGGTCTTT 0.333000 7 36 0 0 0.00198382 0 0 ABCC6 368 broad.mit.edu 37 16 16284205 16284205 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:16284205T>A ENST00000205557.7 - 12 1480 c.1451A>T c.(1450-1452)aAg>aTg p.K484M ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 484 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCGTGAGTCCTTCTGCCTCAT 0.562000 17 43 0 0 0.00121646 0 0 SHROOM1 134549 broad.mit.edu 37 5 132161667 132161667 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132161667G>A ENST00000378679.3 - 4 970 c.166C>T c.(166-168)Cct>Tct p.P56S SHROOM1_ENST00000378676.1_Missense_Mutation_p.P56S|SHROOM1_ENST00000319854.3_Missense_Mutation_p.P56S NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 56 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTAGGTAAGGAAGGAGGTCT 0.731000 4 5 0 0 0.00024832 0 0 ADAM2 2515 broad.mit.edu 37 8 39678582 39678582 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:39678582G>A ENST00000265708.4 - 6 555 c.452C>T c.(451-453)tCc>tTc p.S151F ADAM2_ENST00000347580.4_Missense_Mutation_p.S151F|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.S151F|ADAM2_ENST00000379853.2_Missense_Mutation_p.S151F NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 151 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.S151F(1) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ATTATATAAGGAAACATCTGC 0.323000 34 60 0 0 0.000692331 0 0 COL3A1 1281 broad.mit.edu 37 2 189873725 189873725 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:189873725G>A ENST00000304636.3 + 48 3771 c.3601G>A c.(3601-3603)Gga>Aga p.G1201R COL3A1_ENST00000317840.5_Missense_Mutation_p.G898R NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1201 Nonhelical region (C-terminal). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGTGGTGTTGGAGCCGCTGC 0.542000 42 41 0 0 0.00195071 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643785 37643785 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37643785G>A ENST00000356958.4 - 5 1274 c.1016C>T c.(1015-1017)tCc>tTc p.S339F ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.S284F|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S284F|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S284F Q6P3V2 Z585A_HUMAN zinc finger protein 585A 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AACGAGGTTGGAATTATTGCT 0.398000 28 57 0 0 0.00127121 0 0 ARHGAP1 392 broad.mit.edu 37 11 46702650 46702650 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:46702650G>A ENST00000311956.4 - 7 643 c.546C>T c.(544-546)ttC>ttT p.F182F NM_004308.2 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 182 CRAL-TRIO. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TCTTCTGCCCGAACTTGAAGC 0.602000 15 44 0 0 0.000422831 0 0 XPR1 9213 broad.mit.edu 37 1 180775261 180775261 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:180775261C>T ENST00000367590.4 + 5 709 c.511C>T c.(511-513)Cgt>Tgt p.R171C XPR1_ENST00000367589.3_Missense_Mutation_p.R171C NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 171 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GGAAACATCTCGTGGAGCAGA 0.393000 31 17 0 0 0.001512 0 0 TCTN2 79867 broad.mit.edu 37 12 124191312 124191312 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:124191312C>T ENST00000303372.5 + 16 1937 c.1809C>T c.(1807-1809)acC>acT p.T603T TCTN2_ENST00000426174.2_Silent_p.T602T NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 603 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GTGGGCTTACCTGTGAGCACA 0.502000 42 30 0 0 0.000589545 0 0 WDR62 284403 broad.mit.edu 37 19 36572341 36572341 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36572341C>T ENST00000401500.2 + 10 1275 c.1240C>T c.(1240-1242)Cct>Tct p.P414S WDR62_ENST00000388999.3_Missense_Mutation_p.P414S|WDR62_ENST00000270301.7_Missense_Mutation_p.P414S NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 414 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTAGGTGTATCCTGAGTTTGA 0.428000 57 91 0 0 0.000781405 0 0 DZIP1 22873 broad.mit.edu 37 13 96239907 96239907 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:96239907G>A ENST00000347108.3 - 18 2536 c.2104C>T c.(2104-2106)Cct>Tct p.P702S DZIP1_ENST00000376829.2_Missense_Mutation_p.P702S|DZIP1_ENST00000361156.3_Missense_Mutation_p.P683S|DZIP1_ENST00000361396.2_Missense_Mutation_p.P683S Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 702 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) GGCGGCACAGGAAGTGGGCCT 0.562000 19 40 0 0 0.000375601 0 0 GRIN2A 2903 broad.mit.edu 37 16 9916154 9916154 + Missense_Mutation SNP C C T rs143031592 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:9916154C>T ENST00000396573.2 - 11 2444 c.2135G>A c.(2134-2136)gGa>gAa p.G712E GRIN2A_ENST00000404927.2_Missense_Mutation_p.G712E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G555E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G712E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G712E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G712E NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 712 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.G712E(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCCTCTACTCCTTTCTGATT 0.458000 16 63 0 0 0.000566183 0 0 FBN2 2201 broad.mit.edu 37 5 127616001 127616001 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:127616001C>T ENST00000508053.1 - 62 7995 c.7021G>A c.(7021-7023)Gaa>Aaa p.E2341K FBN2_ENST00000262464.4_Missense_Mutation_p.E2341K P35556 FBN2_HUMAN fibrillin 2 2341 EGF-like 40; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GTCCTGCATTCATTTTCATCT 0.318000 14 41 0 0 0.000308642 0 0 TNS4 84951 broad.mit.edu 37 17 38652406 38652406 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:38652406G>A ENST00000254051.6 - 2 430 c.272C>T c.(271-273)cCa>cTa p.P91L NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 91 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) AAGGTCCTCTGGGGTCCCCAA 0.632000 53 7 0 0 0.000781405 0 0 ICA1 3382 broad.mit.edu 37 7 8178486 8178486 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:8178486C>T ENST00000402384.3 - 12 1310 c.1044G>A c.(1042-1044)atG>atA p.M348I ICA1_ENST00000422063.2_Missense_Mutation_p.M377I|ICA1_ENST00000396675.3_Missense_Mutation_p.M348I|ICA1_ENST00000406470.2_Missense_Mutation_p.M348I|ICA1_ENST00000265577.7_Missense_Mutation_p.M347I|ICA1_ENST00000401396.1_Missense_Mutation_p.M336I Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 348 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CCTCAGATTTCATGTCTAATA 0.279000 67 74 0 0 0.000781405 0 0 OR5H1 26341 broad.mit.edu 37 3 97852246 97852246 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:97852246G>A ENST00000354565.2 + 1 705 c.705G>A c.(703-705)agG>agA p.R235R RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 AAGGTGTAAGGAAAGCCTTTT 0.408000 66 54 0 0 0.000781405 0 0 FRS2 10818 broad.mit.edu 37 12 69965954 69965954 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:69965954G>A ENST00000299293.2 + 9 979 c.469G>A c.(469-471)Gga>Aga p.G157R FRS2_ENST00000397997.2_Missense_Mutation_p.G157R|FRS2_ENST00000550389.1_Missense_Mutation_p.G157R|FRS2_ENST00000549921.1_Missense_Mutation_p.G157R NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 157 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCCCTCATTTGGAGATGCTTC 0.493000 21 55 0 0 0.00121646 0 0 SNAP47 116841 broad.mit.edu 37 1 227947188 227947188 + Splice_Site SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:227947188T>C ENST00000366759.4 + 3 1537 c.e3+2 SNAP47_ENST00000315781.5_Splice_Site|SNAP47_ENST00000366760.1_Splice_Site NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 GGCATGCAGGTTAGTGACCGA 0.527000 83 51 0 0 0.000781405 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508517 106508517 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:106508517G>A ENST00000359195.3 + 2 821 c.511G>A c.(511-513)Gat>Aat p.D171N PIK3CG_ENST00000496166.1_Missense_Mutation_p.D171N|PIK3CG_ENST00000440650.2_Missense_Mutation_p.D171N NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 171 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CGTGCACGACGATGAGCTGGA 0.677000 14 61 0 0 0.00185496 0 0 CDS2 8760 broad.mit.edu 37 20 5154251 5154251 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:5154251C>T ENST00000460006.1 + 2 447 c.140C>T c.(139-141)tCt>tTt p.S47F CDS2_ENST00000379062.4_Intron NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 47 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 CTGCCAGTCTCTGCAGATGAT 0.532000 114 75 0 0 0.000781405 0 0 SLC9A9 285195 broad.mit.edu 37 3 143550971 143550971 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:143550971G>A ENST00000316549.6 - 2 476 c.268C>T c.(268-270)Cca>Tca p.P90S NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 90 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 AGAGTTGATGGACTGAAAGTT 0.338000 46 66 0 0 0.000781405 0 0 DLL4 54567 broad.mit.edu 37 15 41224580 41224580 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:41224580G>A ENST00000249749.5 + 6 1061 c.785G>A c.(784-786)gGc>gAc p.G262D NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 262 EGF-like 2. blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TGTCGCCACGGCACCTGCAGC 0.612000 61 69 0 0 0.000781405 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133948557 133948557 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:133948557G>A ENST00000298622.4 + 4 1000 c.862G>A c.(862-864)Gat>Aat p.D288N NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) ACAGCAGTTGGATGAAAAAGA 0.483000 29 5 0 0 0.00178596 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308012 140308012 + Missense_Mutation SNP C C T rs137957181 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140308012C>T ENST00000253807.2 + 1 1535 c.1535C>T c.(1534-1536)tCc>tTc p.S512F PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S512F|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAAAACTTCCTTTGACTTT 0.493000 25 69 0 0 0.00047179 0 0 IGHV1-24 28467 broad.mit.edu 37 14 106733222 106733222 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106733222C>T ENST00000390610.2 - 0 332 TAGATGTGTCCTCGGTCATGG 0.512000 59 148 0 0 0.000781405 0 0 AZU1 566 broad.mit.edu 37 19 831860 831860 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:831860G>A ENST00000233997.2 + 5 760 c.739G>A c.(739-741)Gga>Aga p.G247R NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 247 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAACAACCCGGGACCGGGGCC 0.706000 42 34 0 0 0.000781405 0 0 OR51E2 81285 broad.mit.edu 37 11 4703277 4703277 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:4703277C>T ENST00000396950.3 - 2 904 c.665G>A c.(664-666)cGa>cAa p.R222Q NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CAGAACCGTTCGTATTATCAG 0.488000 18 26 0 0 0.00121646 0 0 MVD 4597 broad.mit.edu 37 16 88723906 88723906 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:88723906G>A ENST00000301012.3 - 4 370 c.341C>T c.(340-342)tCg>tTg p.S114L MVD_ENST00000568709.1_5'UTR NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 114 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) GTTGTTCACCGATGCCACGTG 0.677000 12 30 0 0 0.000308642 0 0 DUOX2 50506 broad.mit.edu 37 15 45393430 45393430 + Missense_Mutation SNP G G A rs144153950 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:45393430G>A ENST00000389039.6 - 22 3279 c.2894C>T c.(2893-2895)tCg>tTg p.S965L DUOX2_ENST00000603300.1_Missense_Mutation_p.S965L Q9NRD8 DUOX2_HUMAN dual oxidase 2 965 Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGTGATGAACGAGACTCGACA 0.542000 8 14 0 0 0.000157383 0 0 BOD1L1 259282 broad.mit.edu 37 4 13603467 13603467 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:13603467C>T ENST00000040738.5 - 10 5192 c.5057G>A c.(5056-5058)aGt>aAt p.S1686N NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1686 DNA binding TGCTCCATCACTTTCAACTTC 0.418000 96 130 0 0 0.000781405 0 0 REG1A 5967 broad.mit.edu 37 2 79349251 79349251 + Splice_Site SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:79349251G>T ENST00000233735.1 + 4 424 c.321_splice c.e4+1 p.K107_splice NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 107 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 ACCCCAAAAAGGTAGGCTGCA 0.488000 34 45 4.62619e-21 2.23343e-20 0.000814825 1 0 ZNF572 137209 broad.mit.edu 37 8 125988914 125988914 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:125988914C>T ENST00000319286.5 + 3 558 c.404C>T c.(403-405)tCc>tTc p.S135F NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TATAAATGTTCCGAATGTTGG 0.438000 HNSCC(60;0.17) 64 53 0 0 0.000781405 0 0 OR10T2 128360 broad.mit.edu 37 1 158368976 158368976 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158368976G>A ENST00000334438.1 - 1 280 c.281C>T c.(280-282)tCc>tTc p.S94F NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) GGCCATGAAGGAGATGGTCTT 0.478000 24 21 0 0 0.00047179 0 0 SLIT3 6586 broad.mit.edu 37 5 168671773 168671773 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:168671773C>T ENST00000519560.1 - 3 696 c.277G>A c.(277-279)Gaa>Aaa p.E93K SLIT3_ENST00000332966.8_Missense_Mutation_p.E93K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E93K|SLIT3_ENST00000521130.1_5'UTR NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 93 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTTGTCTTCCAGATGCCTA 0.517000 10 25 0 0 0.000219431 0 0 ALPK3 57538 broad.mit.edu 37 15 85411371 85411371 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:85411371C>T ENST00000258888.5 + 14 5575 c.5408C>T c.(5407-5409)cCt>cTt p.P1803L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1803 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity p.P1803L(2) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCTGCTTCCCTGCCCTGCTG 0.647000 30 102 0 0 0.000692331 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125844543 125844543 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:125844543G>A ENST00000393434.2 - 15 2065 c.1716C>T c.(1714-1716)ccC>ccT p.P572P ALDH1L1_ENST00000452905.2_Silent_p.P471P|ALDH1L1_ENST00000273450.3_Silent_p.P582P|ALDH1L1_ENST00000472186.1_Silent_p.P572P|ALDH1L1_ENST00000393431.2_3'UTR NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 572 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GATAGTTCCAGGGGATGATGA 0.577000 26 34 0 0 0.000720815 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763506 110763506 + Missense_Mutation SNP G G A rs146329765 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:110763506G>A ENST00000368919.3 - 4 1190 c.1124C>T c.(1123-1125)tCg>tTg p.S375L SLC22A16_ENST00000330550.4_Missense_Mutation_p.S341L|SLC22A16_ENST00000439654.1_Missense_Mutation_p.S375L NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 375 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CAAGGAAAACGAGTAGAATCC 0.383000 29 7 0 0 0.00106085 0 0 COL4A2 1284 broad.mit.edu 37 13 111111224 111111224 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:111111224G>A ENST00000360467.5 + 22 1845 c.1539G>A c.(1537-1539)agG>agA p.R513R COL4A2-AS2_ENST00000458403.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 513 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGCCGGGGAGGAAAGGGGACA 0.602000 27 28 0 0 0.000720815 0 0 UBE3B 89910 broad.mit.edu 37 12 109936079 109936079 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:109936079C>T ENST00000342494.3 + 11 1456 c.861C>T c.(859-861)ttC>ttT p.F287F UBE3B_ENST00000280774.5_Silent_p.F287F|UBE3B_ENST00000434735.2_Silent_p.F287F NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 287 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TTCGTAAATTCATCATATTTT 0.418000 55 112 0 0 0.000781405 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41739503 41739503 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:41739503C>T ENST00000352645.4 + 13 1639 c.1382C>T c.(1381-1383)tCg>tTg p.S461L ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S461L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 477 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTCCGGAGCTCGGAGGACCAG 0.677000 44 45 0 0 0.000589545 0 0 ZNF398 57541 broad.mit.edu 37 7 148863939 148863939 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:148863939C>T ENST00000420008.2 + 4 853 c.65C>T c.(64-66)tCt>tTt p.S22F ZNF398_ENST00000335901.4_Missense_Mutation_p.S22F|ZNF398_ENST00000491174.1_Missense_Mutation_p.S22F|ZNF398_ENST00000483892.1_Missense_Mutation_p.S22F|ZNF398_ENST00000540950.1_Missense_Mutation_p.S198F|ZNF398_ENST00000426851.2_Missense_Mutation_p.S22F|ZNF398_ENST00000475153.1_Missense_Mutation_p.S193F NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 193 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) GATGTCTTATCTCAGATTCAA 0.428000 15 3 0 0 0.000422831 0 0 GRM2 2912 broad.mit.edu 37 3 51749229 51749229 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:51749229G>A ENST00000395052.3 + 4 1674 c.1440G>A c.(1438-1440)ctG>ctA p.L480L GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 480 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCTTGACTCTGGACACCAGCC 0.617000 9 0 0 0 0.000442599 0 0 NCOA1 8648 broad.mit.edu 37 2 24952581 24952581 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:24952581C>T ENST00000405141.1 + 18 3809 c.3098C>T c.(3097-3099)tCa>tTa p.S1033L NCOA1_ENST00000395856.3_Missense_Mutation_p.S1033L|NCOA1_ENST00000406961.1_Missense_Mutation_p.S1033L|NCOA1_ENST00000538539.1_Missense_Mutation_p.S1033L|NCOA1_ENST00000288599.5_Missense_Mutation_p.S1033L|NCOA1_ENST00000348332.3_Missense_Mutation_p.S1033L|NCOA1_ENST00000407230.1_Missense_Mutation_p.S882L Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1033 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGCTTTTTCACCTGGCATG 0.542000 T PAX3 alveolar rhadomyosarcoma 24 94 0 0 0.00047179 0 0 SAMD9 54809 broad.mit.edu 37 7 92731876 92731876 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:92731876C>T ENST00000379958.2 - 3 3804 c.3535G>A c.(3535-3537)Gaa>Aaa p.E1179K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1179 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TACAATCTTTCCTTCACTTCA 0.373000 179 66 0 0 0.000781405 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559618 140559618 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140559618C>T ENST00000239444.2 + 1 2248 c.2003C>T c.(2002-2004)tCc>tTc p.S668F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 668 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACGGCTTCTCCCAGCCCTAC 0.687000 29 26 0 0 0.00209593 0 0 TRPV1 7442 broad.mit.edu 37 17 3477212 3477212 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:3477212G>A ENST00000174621.6 - 12 2101 c.1812C>T c.(1810-1812)tcC>tcT p.S604S TRPV1_ENST00000576351.1_Silent_p.S596S|TRPV1_ENST00000399759.3_Silent_p.S606S|TRPV1_ENST00000425167.2_Silent_p.S617S|TRPV1_ENST00000571088.1_Silent_p.S606S|TRPV1_ENST00000399756.4_Silent_p.S606S|SHPK_ENST00000572705.1_Silent_p.S606S|TRPV1_ENST00000310522.5_Silent_p.S546S Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 606 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CAGACGGCAGGGAGTCATTCT 0.622000 46 1 0 0 0.000781405 0 0 SOX10 6663 broad.mit.edu 37 22 38370151 38370151 + Missense_Mutation SNP G G A rs74315518 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:38370151G>A ENST00000396884.2 - 4 1034 c.752C>T c.(751-753)tCg>tTg p.S251L POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.S251L NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 251 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) TGCCTTGCCCGACTGCAGCTC 0.652000 102 169 0 0 0.000781405 0 0 OR4C3 256144 broad.mit.edu 37 11 48346564 48346564 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48346564C>T ENST00000319856.4 + 1 93 c.72C>T c.(70-72)acC>acT p.T24T NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TCTCAGTGACCTTGGAATCTA 0.393000 41 76 0 0 0.00170553 0 0 TK2 7084 broad.mit.edu 37 16 66565282 66565282 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:66565282C>T ENST00000299697.7 - 5 726 c.e5+1 TK2_ENST00000527800.1_Splice_Site|TK2_ENST00000564917.1_Splice_Site|TK2_ENST00000525974.1_Splice_Site|TK2_ENST00000563369.2_Splice_Site|TK2_ENST00000545043.2_Splice_Site|TK2_ENST00000417693.3_Splice_Site|TK2_ENST00000544898.1_Splice_Site|TK2_ENST00000451102.2_Splice_Site|TK2_ENST00000527284.1_Splice_Site NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4 NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4 O00142 KITM_HUMAN thymidine kinase 2, mitochondrial pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity large_intestine(1)|lung(2)|urinary_tract(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) CTGAAACCTACCTGAGGACGA 0.512000 5 26 0 0 0.000602214 0 0 MBD5 55777 broad.mit.edu 37 2 149226928 149226928 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:149226928C>T ENST00000407073.1 + 9 2413 c.1416C>T c.(1414-1416)ttC>ttT p.F472F MBD5_ENST00000404807.1_Silent_p.F472F NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 472 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATGGAAATTTCATGATGCCAC 0.512000 26 27 0 0 0.000586117 0 0 UBASH3A 53347 broad.mit.edu 37 21 43852251 43852251 + Missense_Mutation SNP G G A rs151042130 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:43852251G>A ENST00000319294.6 + 9 1241 c.1210G>A c.(1210-1212)Ggg>Agg p.G404R UBASH3A_ENST00000291535.6_Missense_Mutation_p.G366R|UBASH3A_ENST00000398367.1_Missense_Mutation_p.G366R NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 404 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GGTTCGCCACGGGGAGAGAGT 0.572000 5 15 0 0 0.00198382 0 0 SDK2 54549 broad.mit.edu 37 17 71334736 71334736 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:71334736G>A ENST00000392650.3 - 45 6509 c.6509C>T c.(6508-6510)tCa>tTa p.S2170L SDK2_ENST00000388726.3_Missense_Mutation_p.S2151L|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2170 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TCAAACAAATGATGAAAATCC 0.552000 7 16 0 0 0.000157383 0 0 GART 2618 broad.mit.edu 37 21 34897104 34897104 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:34897104G>A ENST00000381831.3 - 11 1533 c.1270C>T c.(1270-1272)Cgt>Tgt p.R424C GART_ENST00000381815.4_Missense_Mutation_p.R424C|GART_ENST00000361093.5_Missense_Mutation_p.R424C|GART_ENST00000381839.3_Missense_Mutation_p.R424C NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 424 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) GCTATGGCACGAAAGCCGACG 0.448000 53 31 0 0 0.000781405 0 0 SCAND3 114821 broad.mit.edu 37 6 28542663 28542663 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28542663C>T ENST00000452236.2 - 3 2436 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 607 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CATTCTTTTTCACAAACTACA 0.418000 28 26 0 0 0.00127121 0 0 PCDH20 64881 broad.mit.edu 37 13 61986455 61986455 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:61986455C>T ENST00000409186.1 - 5 3882 c.1777G>A c.(1777-1779)Gtt>Att p.V593I PCDH20_ENST00000409204.4_Missense_Mutation_p.V593I Q8N6Y1 PCD20_HUMAN protocadherin 20 566 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TGAGTAGAAACTGTCAGAATT 0.473000 46 29 0 0 0.000781405 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21353449 21353449 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:21353449C>T ENST00000256958.2 + 9 1074 c.978C>T c.(976-978)ttC>ttT p.F326F NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 326 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CAGGTTTTTTCCAGTCTTTTA 0.274000 9 18 0 0 0.000274275 0 0 POLR1A 25885 broad.mit.edu 37 2 86272890 86272890 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:86272890G>A ENST00000263857.6 - 20 3114 c.2736C>T c.(2734-2736)atC>atT p.I912I POLR1A_ENST00000409681.1_Silent_p.I912I O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 912 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 GCAGGCACGAGATCTGGAGGA 0.517000 29 33 0 0 0.001512 0 0 IRF8 3394 broad.mit.edu 37 16 85936699 85936699 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:85936699G>A ENST00000268638.5 + 2 500 c.78G>A c.(76-78)ctG>ctA p.L26L IRF8_ENST00000563180.1_Silent_p.L26L NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 26 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) ATCCAGGACTGATTTGGGAGA 0.483000 87 52 0 0 0.000781405 0 0 SI 6476 broad.mit.edu 37 3 164724636 164724636 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:164724636G>A ENST00000264382.3 - 37 4436 c.4374C>T c.(4372-4374)ctC>ctT p.L1458L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1458 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCATCCATAGAGATTGTGAA 0.348000 HNSCC(35;0.089) 26 27 0 0 0.000878237 0 0 DDX41 51428 broad.mit.edu 37 5 176939793 176939793 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176939793G>A ENST00000507955.1 - 13 1910 c.1387C>T c.(1387-1389)Cat>Tat p.H463Y NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 463 Helicase C-terminal. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TTGCCCCCATGGATGGCTACG 0.587000 67 57 0 0 0.000781405 0 0 ACY3 91703 broad.mit.edu 37 11 67410210 67410210 + Silent SNP C C T rs139551384 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:67410210C>T ENST00000255082.3 - 8 1115 c.945G>A c.(943-945)ccG>ccA p.P315P ACY3_ENST00000529256.1_Silent_p.P194P NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 315 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) AAGCTGGGCTCGGGGCAGGGG 0.582000 57 36 0 0 0.000781405 0 0 TCF4 6925 broad.mit.edu 37 18 52927248 52927248 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:52927248G>A ENST00000354452.3 - 13 1612 c.1001C>T c.(1000-1002)cCa>cTa p.P334L TCF4_ENST00000566286.1_Missense_Mutation_p.P332L|TCF4_ENST00000564403.2_Missense_Mutation_p.P340L|TCF4_ENST00000565018.2_Missense_Mutation_p.P334L|TCF4_ENST00000566279.1_Missense_Mutation_p.P274L|TCF4_ENST00000544241.2_Missense_Mutation_p.P263L|TCF4_ENST00000543082.1_Missense_Mutation_p.P292L|TCF4_ENST00000570177.2_Missense_Mutation_p.P204L|TCF4_ENST00000564999.1_Missense_Mutation_p.P334L|TCF4_ENST00000568740.1_Missense_Mutation_p.P309L|TCF4_ENST00000537856.3_Missense_Mutation_p.P204L|TCF4_ENST00000457482.3_Missense_Mutation_p.P174L|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000561831.3_Missense_Mutation_p.P174L|TCF4_ENST00000537578.1_Missense_Mutation_p.P310L|TCF4_ENST00000568673.1_Missense_Mutation_p.P310L|TCF4_ENST00000561992.1_Missense_Mutation_p.P204L|TCF4_ENST00000398339.1_Missense_Mutation_p.P436L|TCF4_ENST00000570287.2_Missense_Mutation_p.P174L|TCF4_ENST00000567880.1_Missense_Mutation_p.P274L|TCF4_ENST00000564228.1_Missense_Mutation_p.P263L|TCF4_ENST00000540999.1_Missense_Mutation_p.P310L|TCF4_ENST00000356073.4_Missense_Mutation_p.P334L NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 334 P -> S (in Ref. 7; CAA36298). positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AGTGTGATCTGGAGAATAGAT 0.343000 48 70 0 0 0.000781405 0 0 LCT 3938 broad.mit.edu 37 2 136566074 136566074 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:136566074C>T ENST00000264162.2 - 8 3853 c.3843G>A c.(3841-3843)ccG>ccA p.P1281P NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1281 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCTCCGTGTTCGGATTGGTCA 0.488000 72 132 0 0 0.000781405 0 0 HERC2P9 440248 broad.mit.edu 37 15 28903876 28903876 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:28903876C>T ENST00000528584.1 + 0 640 NR_036443.1 GATCCTGTCTCAGCCAGCTGT 0.488000 51 73 0 0 0.000781405 0 0 SGK2 10110 broad.mit.edu 37 20 42199686 42199686 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:42199686C>T ENST00000373100.1 + 9 956 c.496C>T c.(496-498)Ctc>Ttc p.L166F SGK2_ENST00000373077.1_Missense_Mutation_p.L165F|SGK2_ENST00000426287.1_Missense_Mutation_p.L192F|SGK2_ENST00000423407.3_Missense_Mutation_p.L166F|SGK2_ENST00000373092.3_Missense_Mutation_p.L166F|SGK2_ENST00000341458.4_Missense_Mutation_p.L226F Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 226 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGAGAACATTCTCTTGGACTG 0.498000 59 91 0 0 0.000781405 0 0 ABCC3 8714 broad.mit.edu 37 17 48735797 48735797 + Splice_Site SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48735797A>G ENST00000285238.8 + 6 694 c.612_splice c.e6-1 p.N205_splice ABCC3_ENST00000427699.1_Splice_Site_p.N205_splice NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 205 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GCCTTCTAGAACCCCTACCCT 0.582000 56 47 0 0 0.000781405 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164227 150164227 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:150164227C>T ENST00000307271.3 + 2 1015 c.441C>T c.(439-441)ttC>ttT p.F147F NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 147 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TGCAAGATTTCATTGAAAAAA 0.448000 22 4 0 0 0.00229938 0 0 DSCAML1 57453 broad.mit.edu 37 11 117376407 117376407 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:117376407G>A ENST00000321322.6 - 9 2005 c.2004C>T c.(2002-2004)tcC>tcT p.S668S DSCAML1_ENST00000527706.1_Silent_p.S398S NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 608 Ig-like C2-type 7. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCTGGCCGATGGAGGCGGGTG 0.632000 26 3 0 0 0.00178596 0 0 STX5 6811 broad.mit.edu 37 11 62592792 62592792 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62592792G>A ENST00000294179.3 - 7 713 c.560C>T c.(559-561)tCc>tTc p.S187F STX5_ENST00000541317.1_Missense_Mutation_p.S91F|STX5_ENST00000394690.1_Missense_Mutation_p.S133F|STX5_ENST00000377897.4_Missense_Mutation_p.S187F NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 187 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 GAAGTCATTGGACATAGAAGC 0.483000 122 236 0 0 0.000781405 0 0 OR10K2 391107 broad.mit.edu 37 1 158389856 158389856 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158389856G>A ENST00000314902.2 - 1 800 c.801C>T c.(799-801)tcC>tcT p.S267S NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) CCTGGCTTGAGGAGTAGTTGG 0.403000 51 24 0 0 0.000781405 0 0 SCN5A 6331 broad.mit.edu 37 3 38620944 38620944 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38620944C>T ENST00000413689.1 - 18 3464 c.3271G>A c.(3271-3273)Gat>Aat p.D1091N SCN5A_ENST00000423572.2_Missense_Mutation_p.D1090N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1091N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1091N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1091N|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1090N|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1090N|SCN5A_ENST00000449557.2_Intron NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1091 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTCCTGGAATCCGGAGGGGCC 0.652000 23 13 0 0 0.00127121 0 0 MADD 8567 broad.mit.edu 37 11 47330884 47330884 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:47330884C>T ENST00000342922.4 + 24 4164 c.3807C>T c.(3805-3807)ttC>ttT p.F1269F MADD_ENST00000405573.2_Silent_p.F138F|MADD_ENST00000406482.1_Silent_p.F1226F|MADD_ENST00000402192.2_Silent_p.F1268F|MADD_ENST00000349238.3_Silent_p.F1289F|MADD_ENST00000311027.5_Silent_p.F1328F|MADD_ENST00000395344.3_Silent_p.F1222F|MADD_ENST00000407859.3_Silent_p.F1246F|MADD_ENST00000402799.1_Silent_p.F1226F|MADD_ENST00000395336.3_Silent_p.F1328F NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1328 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) AAGATGCCTTCTTAGATGCTG 0.453000 53 22 0 0 0.000781405 0 0 RCOR3 55758 broad.mit.edu 37 1 211462668 211462668 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:211462668C>T ENST00000367005.4 + 7 836 c.695C>T c.(694-696)tCc>tTc p.S232F RCOR3_ENST00000367006.4_Missense_Mutation_p.S290F|RCOR3_ENST00000452621.2_Missense_Mutation_p.S290F|RCOR3_ENST00000419091.2_Missense_Mutation_p.S290F NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) GTAGCAGTTTCCTGTAGTCCC 0.413000 20 45 0 0 0.00121646 0 0 APOB 338 broad.mit.edu 37 2 21227176 21227176 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:21227176C>T ENST00000233242.1 - 28 12179 c.12052G>A c.(12052-12054)Gac>Aac p.D4018N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4018 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTAGAAAAGTCGTCATCTTCA 0.507000 269 157 0 0 0.000781405 0 0 ZNF283 284349 broad.mit.edu 37 19 44352446 44352446 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44352446C>T ENST00000324461.7 + 7 1990 c.1693C>T c.(1693-1695)Cat>Tat p.H565Y ZNF283_ENST00000588797.1_Missense_Mutation_p.H426Y NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TCAGAAAATTCATACCGGTGA 0.418000 10 31 0 0 0.000673444 0 0 TIMD4 91937 broad.mit.edu 37 5 156375464 156375464 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:156375464C>T ENST00000274532.2 - 5 863 c.807G>A c.(805-807)tgG>tgA p.W269* TIMD4_ENST00000407087.3_Intron NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 269 Ser-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACTCGTTTTCCACATTGACA 0.353000 70 145 0 0 0.000781405 0 0 RTEL1 51750 broad.mit.edu 37 20 62316898 62316898 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62316898C>T ENST00000318100.4 + 15 2041 c.1214C>T c.(1213-1215)tCc>tTc p.S405F RTEL1_ENST00000508582.2_Missense_Mutation_p.S429F|RTEL1_ENST00000370018.3_Missense_Mutation_p.S405F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S405F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S405F Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 405 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GTGGACCCCTCCGAGGGCAGC 0.632000 20 39 0 0 0.000375601 0 0 PON1 5444 broad.mit.edu 37 7 94928282 94928282 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:94928282G>A ENST00000222381.3 - 9 1273 c.1042C>T c.(1042-1044)Cac>Tac p.H348Y PON1_ENST00000542556.1_Missense_Mutation_p.H348Y NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 348 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) AGAGCTTTGTGAAACACTGTG 0.463000 17 90 0 0 0.00074312 0 0 AVEN 57099 broad.mit.edu 37 15 34159738 34159738 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34159738G>A ENST00000306730.3 - 5 1060 c.931C>T c.(931-933)Ctg>Ttg p.L311L NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 311 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) TTGGATTTCAGGTCCTGAGAC 0.423000 37 59 0 0 0.00148497 0 0 MTOR 2475 broad.mit.edu 37 1 11190630 11190630 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:11190630C>T ENST00000361445.4 - 39 5645 c.5569G>A c.(5569-5571)Gag>Aag p.E1857K MTOR_ENST00000376838.1_Missense_Mutation_p.E62K NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1857 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GGGCTGTTCTCGGTGCTCTCG 0.612000 59 7 0 0 0.000781405 0 0 LOC440040 440040 broad.mit.edu 37 11 49597918 49597918 + RNA SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:49597918T>A ENST00000527477.1 + 0 522 TGGAGCTCTCTTTTCTGTTCA 0.512000 14 5 0 0 0.000219431 0 0 PUM1 9698 broad.mit.edu 37 1 31409621 31409621 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:31409621C>T ENST00000373747.3 - 21 3406 c.3307G>A c.(3307-3309)Gag>Aag p.E1103K PUM1_ENST00000257075.5_Missense_Mutation_p.E1100K|PUM1_ENST00000440538.2_Missense_Mutation_p.E1076K|PUM1_ENST00000426105.2_Missense_Mutation_p.E1102K|PUM1_ENST00000424085.2_Missense_Mutation_p.E858K|PUM1_ENST00000423018.2_Missense_Mutation_p.E958K|PUM1_ENST00000373741.4_Missense_Mutation_p.E1138K|PUM1_ENST00000373742.2_Missense_Mutation_p.E1041K NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 1100 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) GTGCACACCTCATCGATGAGC 0.507000 68 29 0 0 0.000781405 0 0 ZNF573 126231 broad.mit.edu 37 19 38229581 38229581 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38229581G>A ENST00000339503.4 - 8 2137 c.1636C>T c.(1636-1638)Cat>Tat p.H546Y ZNF573_ENST00000392138.1_Missense_Mutation_p.H517Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H516Y|ZNF573_ENST00000590414.2_Missense_Mutation_p.H604Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H516Y NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H546Y(1) NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) CCACCAGTATGAATTTTCTGA 0.388000 23 29 0 0 0.000375601 0 0 LRBA 987 broad.mit.edu 37 4 151186938 151186938 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:151186938C>T ENST00000535741.1 - 57 8968 c.8495G>A c.(8494-8496)gGa>gAa p.G2832E LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.G2831E|LRBA_ENST00000357115.3_Missense_Mutation_p.G2843E P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2843 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CACAATGCTTCCTGAAGCCAT 0.463000 29 7 0 0 0.00178596 0 0 KLHDC4 54758 broad.mit.edu 37 16 87788820 87788820 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:87788820G>A ENST00000270583.5 - 4 407 c.349C>T c.(349-351)Ccg>Tcg p.P117S KLHDC4_ENST00000353170.5_Missense_Mutation_p.P60S|KLHDC4_ENST00000347925.5_Missense_Mutation_p.P117S NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 117 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) CAGCGCCTCGGAGGTGGACTG 0.507000 14 44 0 0 0.000566183 0 0 TTN 7273 broad.mit.edu 37 2 179428361 179428361 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179428361C>T ENST00000589042.1 - 326 82722 c.82498G>A c.(82498-82500)Gaa>Aaa p.E27500K TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18627K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24932K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18560K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18435K|TTN_ENST00000591111.1_Missense_Mutation_p.E25859K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25859 Fibronectin type-III 100. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E18435K(1) 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) CCCTCAATTTCGGTACCTCCG 0.478000 72 110 0 0 0.000781405 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51650568 51650568 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51650568C>T ENST00000317643.6 + 6 1284 c.1215C>T c.(1213-1215)gcC>gcT p.A405A SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Silent_p.A312A NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 405 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GGGGCTCAGCCTCTCAGGTGA 0.552000 8 27 0 0 0.000274275 0 0 CAPN9 10753 broad.mit.edu 37 1 230930959 230930959 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:230930959G>A ENST00000354537.1 + 17 1925 c.1843G>A c.(1843-1845)Gat>Aat p.D615N RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.D641N|CAPN9_ENST00000366666.2_Missense_Mutation_p.D578N|CAPN9_ENST00000480004.1_3'UTR NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 641 Domain IV.|EF-hand 3. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CAGGTATGCGGATGAGGAGCT 0.612000 31 16 0 0 0.0024448 0 0 CA8 767 broad.mit.edu 37 8 61178606 61178606 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:61178606G>A ENST00000317995.4 - 3 559 c.295C>T c.(295-297)Ctt>Ttt p.L99F NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 99 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) CCTCCCGAAAGAACTGAAAAA 0.393000 14 23 0 0 0.000422831 0 0 ZNF831 128611 broad.mit.edu 37 20 57829283 57829283 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:57829283G>A ENST00000371030.2 + 5 4519 c.4519G>A c.(4519-4521)Gaa>Aaa p.E1507K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1507 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CATAGCCCAGGAAATTCACAG 0.512000 40 57 0 0 0.00170553 0 0 CDH7 1005 broad.mit.edu 37 18 63547753 63547753 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:63547753G>A ENST00000397968.2 + 12 2407 c.1981G>A c.(1981-1983)Gag>Aag p.E661K CDH7_ENST00000323011.3_Missense_Mutation_p.E661K NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 661 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CGGGGGAGAGGAGGACACGGA 0.488000 28 58 0 0 0.00127121 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969501 140969501 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140969501G>A ENST00000298296.1 + 4 828 c.828G>A c.(826-828)ctG>ctA p.L276L MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 276 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) ACCGCCTCCTGATTCTTATTC 0.507000 44 7 0 0 0.000509022 0 0 GTF3C1 2975 broad.mit.edu 37 16 27549248 27549248 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:27549248C>T ENST00000356183.4 - 4 624 c.608_splice c.e4-1 p.K203_splice GTF3C1_ENST00000561623.1_Splice_Site_p.K203_splice NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 203 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CAGCATCAACCCTGGAGGAAA 0.453000 23 15 0 0 0.00229938 0 0 DHX57 90957 broad.mit.edu 37 2 39029995 39029995 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:39029995G>A ENST00000295373.6 - 23 4005 c.3879C>T c.(3877-3879)ttC>ttT p.F1293F NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1293 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AGTCTCGGATGAATACTCGAC 0.483000 81 57 0 0 0.000781405 0 0 UBAP2L 9898 broad.mit.edu 37 1 154229846 154229846 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:154229846C>T ENST00000428931.1 + 20 2545 c.2378C>T c.(2377-2379)cCt>cTt p.P793L UBAP2L_ENST00000271877.7_Missense_Mutation_p.P804L|UBAP2L_ENST00000361546.2_Missense_Mutation_p.P793L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P793L NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 793 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AACCTCCCTCCTGGGGTCCCG 0.473000 39 30 0 0 0.000509022 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911275 230911275 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:230911275C>T ENST00000295190.4 - 4 1025 c.567G>A c.(565-567)agG>agA p.R189R NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 189 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) ACATGGCATTCCTCCAGCCGT 0.592000 49 70 0 0 0.000781405 0 0 SNTG2 54221 broad.mit.edu 37 2 1094073 1094073 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1094073C>T ENST00000308624.5 + 4 431 c.302C>T c.(301-303)tCa>tTa p.S101L SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 101 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GTCGTCATATCAAAAATATTC 0.378000 21 48 0 0 0.000375601 0 0 HSPG2 3339 broad.mit.edu 37 1 22173922 22173922 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:22173922G>A ENST00000374695.3 - 62 8168 c.8089C>T c.(8089-8091)Cgg>Tgg p.R2697W HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2697 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TTGTTGGCCCGGCACACATAC 0.632000 31 95 0 0 0.0024448 0 0 SCMH1 22955 broad.mit.edu 37 1 41608760 41608760 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:41608760A>G ENST00000402904.2 - 6 540 c.172T>C c.(172-174)Ttc>Ctc p.F58L SCMH1_ENST00000361191.5_5'UTR|SCMH1_ENST00000372595.1_5'UTR|SCMH1_ENST00000337495.5_Missense_Mutation_p.F68L|SCMH1_ENST00000397171.2_5'UTR|SCMH1_ENST00000326197.7_Missense_Mutation_p.F58L|SCMH1_ENST00000372596.1_5'UTR|SCMH1_ENST00000456518.2_Missense_Mutation_p.F11L|SCMH1_ENST00000372597.1_Missense_Mutation_p.F11L|SCMH1_ENST00000397174.2_Missense_Mutation_p.F38L|SCMH1_ENST00000361705.3_Missense_Mutation_p.F11L NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 58 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CTGATCTTGAACTCGTTGCTT 0.473000 84 43 0 0 0.000781405 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751886 26751886 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:26751886C>T ENST00000396641.2 + 2 1315 c.723C>T c.(721-723)tcC>tcT p.S241S LRRC3B_ENST00000456208.2_Silent_p.S241S|LRRC3B_ENST00000417744.1_Silent_p.S241S NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 241 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 ACTTGAAATCCCTGCCAAGCA 0.433000 21 9 0 0 0.00229938 0 0 RDH8 50700 broad.mit.edu 37 19 10132293 10132293 + Silent SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:10132293A>G ENST00000591589.1 + 6 1053 c.864A>G c.(862-864)aaA>aaG p.K288K RDH8_ENST00000171214.1_Silent_p.K268K Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 268 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) CCACGCTCAAAACCGTGGATT 0.612000 23 26 0 0 0.00188189 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945254 119945254 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:119945254C>T ENST00000297350.4 - 2 694 c.316G>A c.(316-318)Gaa>Aaa p.E106K NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 106 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) TCCTTGCATTCGCACACGCGG 0.557000 28 56 0 0 0.000878237 0 0 MUC16 94025 broad.mit.edu 37 19 9008208 9008208 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9008208G>A ENST00000397910.4 - 41 39547 c.39344C>T c.(39343-39345)cCc>cTc p.P13115L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13117 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGGTGTAGGGGCCCAGCTC 0.547000 75 80 0 0 0.000781405 0 0 PCDH7 5099 broad.mit.edu 37 4 30732387 30732387 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:30732387C>T ENST00000361762.2 + 2 4195 c.3187C>T c.(3187-3189)Cca>Tca p.P1063S PCDH7_ENST00000543491.1_Intron NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 1063 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 GCGTCTACATCCATACATTAC 0.393000 17 44 0 0 0.00152264 0 0 ACAP1 9744 broad.mit.edu 37 17 7250233 7250233 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7250233C>T ENST00000158762.3 + 13 1320 c.1114C>T c.(1114-1116)Ccc>Tcc p.P372S NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 372 Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 TGATGACAGCCCCCGGGGTCC 0.637000 67 8 0 0 0.000781405 0 0 OBSCN 84033 broad.mit.edu 37 1 228525717 228525717 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228525717G>A ENST00000570156.2 + 78 19818 c.19744G>A c.(19744-19746)Gaa>Aaa p.E6582K OBSCN_ENST00000284548.11_Missense_Mutation_p.E5625K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E5625K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E3259K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2744K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5625 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACGCTGCGGGAAGGCCAGTA 0.632000 14 6 0 0 0.000566183 0 0 MGAM 8972 broad.mit.edu 37 7 141760157 141760157 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141760157G>A ENST00000475668.2 + 34 4160 c.4106G>A c.(4105-4107)tGg>tAg p.W1369* MGAM_ENST00000549489.2_Nonsense_Mutation_p.W1369* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1369 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCTCTAGACTGGGACAGCCAA 0.483000 10 49 0 0 0.000978159 0 0 CFL1 1072 broad.mit.edu 37 11 65623156 65623156 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65623156G>T ENST00000525451.2 - 4 1072 c.357C>A c.(355-357)agC>agA p.S119R CFL1_ENST00000524553.1_Missense_Mutation_p.S102R|CFL1_ENST00000308162.5_Missense_Mutation_p.S119R|CFL1_ENST00000534769.1_Missense_Mutation_p.S157R|CFL1_ENST00000531407.1_Missense_Mutation_p.S102R|CFL1_ENST00000531413.1_Missense_Mutation_p.S102R|CFL1_ENST00000527344.1_Missense_Mutation_p.S102R P23528 COF1_HUMAN cofilin 1 (non-muscle) 119 ADF-H. actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 READ - Rectum adenocarcinoma(159;0.169) CGTCCTTGGAGCTGGCATAAA 0.577000 11 47 2.68362e-12 1.28908e-11 0.00136819 1 0 TPR 7175 broad.mit.edu 37 1 186303547 186303547 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:186303547G>A ENST00000367478.3 - 36 5388 c.5092C>T c.(5092-5094)Cgc>Tgc p.R1698C NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1698 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.R1699C(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ACCATTGGGCGGATACTAGCC 0.468000 T NTRK1 papillary thyroid 5 97 0 0 0.00116845 0 0 DPEP3 64180 broad.mit.edu 37 16 68014061 68014061 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:68014061G>A ENST00000268793.4 - 1 671 c.298C>T c.(298-300)Ccc>Tcc p.P100S DPEP3_ENST00000574342.1_5'UTR NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 75 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AGGGTTTTGGGGGTGCCTGGC 0.692000 10 51 0 0 0.00136819 0 0 MIP 4284 broad.mit.edu 37 12 56848285 56848285 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56848285G>A ENST00000257979.4 - 1 141 c.113C>T c.(112-114)cCc>cTc p.P38L MIP_ENST00000555551.1_Intron NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 38 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 AACATGCAGGGGTCCAGGAGC 0.582000 45 19 0 0 0.000781405 0 0 SYPL2 284612 broad.mit.edu 37 1 110019561 110019561 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:110019561C>A ENST00000369872.3 + 4 634 c.418C>A c.(418-420)Cac>Aac p.H140N SYPL2_ENST00000401021.3_Missense_Mutation_p.H140N NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 140 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) CCTGCGCTTCCACAACCTCTA 0.542000 10 406 0.00010058 0.000477734 0.00136819 1 0 RAD23A 5886 broad.mit.edu 37 19 13059062 13059062 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:13059062C>T ENST00000586534.1 + 3 367 c.306C>T c.(304-306)tcC>tcT p.S102S RAD23A_ENST00000592268.1_Silent_p.S102S|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000316856.3_Silent_p.S102S P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 102 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 CCTCTACATCCTTCCCGCCTG 0.642000 Nucleotide excision repair (NER) 8 24 0 0 0.000274275 0 0 RGL1 23179 broad.mit.edu 37 1 183857693 183857693 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:183857693C>T ENST00000304685.3 + 9 1603 c.1142C>T c.(1141-1143)aCt>aTt p.T381I RGL1_ENST00000360851.3_Missense_Mutation_p.T346I|RGL1_ENST00000367531.1_Missense_Mutation_p.T381I|RGL1_ENST00000539189.1_Missense_Mutation_p.T346I|RGL1_ENST00000536277.1_Missense_Mutation_p.T344I NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 346 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TTAAAAAAGACTTGGGCTGCC 0.468000 35 85 0 0 0.0024448 0 0 OPN5 221391 broad.mit.edu 37 6 47754355 47754355 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:47754355G>A ENST00000489301.2 + 2 320 c.235G>A c.(235-237)Gat>Aat p.D79N OPN5_ENST00000393699.2_Missense_Mutation_p.D79N|OPN5_ENST00000371211.2_Missense_Mutation_p.D79N Q6U736 OPN5_HUMAN opsin 5 79 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 AGCAGTCTGTGATCTGGGGAT 0.418000 42 33 0 0 0.000781405 0 0 OR4L1 122742 broad.mit.edu 37 14 20528335 20528335 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:20528335C>T ENST00000315683.1 + 1 132 c.132C>T c.(130-132)ctC>ctT p.L44L NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GAAACATTCTCATTATGGTCA 0.398000 117 94 0 0 0.000781405 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369483 86369483 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:86369483G>A ENST00000400286.2 - 2 1759 c.1161C>T c.(1159-1161)ttC>ttT p.F387F NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 387 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTTCCAAAGTGAAATATTCCA 0.363000 38 18 0 0 0.000814825 0 0 SERPINA3 12 broad.mit.edu 37 14 95081243 95081243 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95081243G>A ENST00000553947.1 + 5 1428 c.540G>A c.(538-540)gaG>gaA p.E180E SERPINA3_ENST00000393078.3_Silent_p.E155E|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Silent_p.E155E|SERPINA3_ENST00000467132.1_Silent_p.E155E P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 155 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GGTTCACGGAGGATGCCAAGA 0.522000 36 31 0 0 0.000491102 0 0 LRRC66 339977 broad.mit.edu 37 4 52883365 52883365 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:52883365G>A ENST00000343457.3 - 1 421 c.415C>T c.(415-417)Cac>Tac p.H139Y NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 139 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CTGCTTCTGTGGCGTTTCACC 0.428000 66 40 0 0 0.000781405 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175862 143175862 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143175862G>A ENST00000408916.1 + 1 897 c.897G>A c.(895-897)ttG>ttA p.L299L EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 299 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) AGCTCCTGTTGTTGGCAAGGG 0.537000 6 35 0 0 0.000157383 0 0 NOS1 4842 broad.mit.edu 37 12 117681136 117681136 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:117681136G>A ENST00000317775.6 - 19 3613 c.2928C>T c.(2926-2928)ctC>ctT p.L976L NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L1010L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 976 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCACAAAGGTGAGGCGGAACT 0.517000 19 55 0 0 0.00229938 0 0 HAMP 57817 broad.mit.edu 37 19 35775857 35775857 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:35775857G>A ENST00000598398.1 + 4 463 c.167G>A c.(166-168)cGa>cAa p.R56Q HAMP_ENST00000222304.3_Missense_Mutation_p.R56Q NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 56 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTCCAGAGGCGAAGGAGGCGA 0.582000 37 44 0 0 0.00222228 0 0 DAB2 1601 broad.mit.edu 37 5 39376178 39376178 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:39376178G>A ENST00000545653.1 - 12 2635 c.2105C>T c.(2104-2106)tCc>tTc p.S702F DAB2_ENST00000509337.1_Missense_Mutation_p.S702F|DAB2_ENST00000320816.6_Missense_Mutation_p.S723F|DAB2_ENST00000339788.6_Missense_Mutation_p.S505F NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 723 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) AACTGGCAGGGAAACTTGTCT 0.433000 28 3 0 0 0.00209593 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962331 10962331 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:10962331G>A ENST00000240691.2 - 1 436 c.344C>T c.(343-345)tCg>tTg p.S115L NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 115 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AAATGGGTGCGATATATTGGC 0.378000 19 21 0 0 0.00121646 0 0 CSF1R 1436 broad.mit.edu 37 5 149459714 149459714 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:149459714G>A ENST00000286301.3 - 4 784 c.493C>T c.(493-495)Cac>Tac p.H165Y CSF1R_ENST00000543093.1_Missense_Mutation_p.H165Y NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 165 Ig-like C2-type 2. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TTGGCCCTGTGGATGGTGAAG 0.607000 15 32 0 0 0.000308642 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53639377 53639377 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:53639377A>G ENST00000564374.1 - 25 3806 c.3713T>C c.(3712-3714)gTt>gCt p.V1238A RPGRIP1L_ENST00000379925.3_Intron|RPGRIP1L_ENST00000563746.1_Intron|RPGRIP1L_ENST00000262135.4_Intron Q68CZ1 FTM_HUMAN RPGRIP1-like 0 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) AAACTGAGCAACACTTTCACC 0.468000 58 143 0 0 0.000781405 0 0 NKX2-8 26257 broad.mit.edu 37 14 37051552 37051552 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:37051552G>A ENST00000258829.5 - 1 260 c.43C>T c.(43-45)Cta>Tta p.L15L NM_014360.2 NP_055175.2 O15522 NKX28_HUMAN NK2 homeobox 8 15 liver development|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0171) GGTAAATCTAGAAGGCTGCGC 0.726000 24 14 0 0 0.000586117 0 0 ATP12A 479 broad.mit.edu 37 13 25284612 25284612 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25284612G>A ENST00000218548.6 + 20 3129 c.2796G>A c.(2794-2796)agG>agA p.R932R ATP12A_ENST00000381946.3_Silent_p.R926R NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 926 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGTACCAGAGGGAATACCTAG 0.453000 7 50 0 0 0.000157383 0 0 CYFIP1 23191 broad.mit.edu 37 15 22999452 22999452 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:22999452C>T ENST00000313077.7 + 29 3449 c.3324C>T c.(3322-3324)atC>atT p.I1108I CYFIP1_ENST00000560848.1_Silent_p.I1108I|CYFIP1_ENST00000435939.2_Silent_p.I677I NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 1108 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) ATGACCCCATCTGGCGCGGGC 0.587000 22 34 0 0 0.000375601 0 0 BIRC7 79444 broad.mit.edu 37 20 61870912 61870912 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:61870912C>T ENST00000217169.3 + 6 1066 c.852C>T c.(850-852)atC>atT p.I284I BIRC7_ENST00000342412.6_Silent_p.I266I|BIRC7_ENST00000395306.1_Silent_p.I179I NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 284 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) TGTGCCCCATCTGCAGAGCCC 0.716000 20 21 0 0 0.00188189 0 0 NDUFB3 4709 broad.mit.edu 37 2 201950311 201950311 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201950311C>T ENST00000237889.4 + 3 593 c.270C>T c.(268-270)tcC>tcT p.S90S NDUFB3_ENST00000454214.1_Silent_p.S90S|NDUFB3_ENST00000433898.1_Silent_p.S90S NM_001257102.1|NM_002491.2 NP_001244031.1|NP_002482.1 O43676 NDUB3_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa 90 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(1)|lung(1)|urinary_tract(1) 3 NADH(DB00157) ACCTGGAGTCCCTGAATAAAG 0.373000 33 28 0 0 0.00222228 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17143761 17143761 + Silent SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:17143761A>G ENST00000265970.7 - 14 2630 c.2631T>C c.(2629-2631)gaT>gaC p.D877D PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.D497D NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 877 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TATGAAGAATATCAAGAAGTT 0.308000 28 64 0 0 0.001512 0 0 CACNA1S 779 broad.mit.edu 37 1 201060870 201060870 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:201060870G>A ENST00000362061.3 - 5 818 c.592C>T c.(592-594)Cac>Tac p.H198Y CACNA1S_ENST00000367338.3_Missense_Mutation_p.H198Y NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 198 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGGGCGATGTGAAAGAGGGGG 0.552000 11 20 0 0 0.00136819 0 0 HPSE 10855 broad.mit.edu 37 4 84240600 84240600 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:84240600G>A ENST00000405413.2 - 4 532 c.396C>T c.(394-396)atC>atT p.I132I HPSE_ENST00000513463.1_Silent_p.I132I|HPSE_ENST00000512196.1_Silent_p.I132I|HPSE_ENST00000311412.5_Silent_p.I132I NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 132 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) CATCAGGAGGGATGGATCCAT 0.423000 18 35 0 0 0.00074312 0 0 ASPH 444 broad.mit.edu 37 8 62489366 62489366 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:62489366G>A ENST00000541428.1 - 16 1187 c.1027C>T c.(1027-1029)Cct>Tct p.P343S ASPH_ENST00000379454.4_Missense_Mutation_p.P372S NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 372 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) GGACTCTGAGGGTATTTGCGT 0.343000 45 62 0 0 0.000781405 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5190095 5190095 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:5190095G>A ENST00000274181.7 + 7 1197 c.1059G>A c.(1057-1059)gtG>gtA p.V353V ADAMTS16_ENST00000511368.1_Silent_p.V353V NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 353 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CAGGACTGGTGATAAGTCACC 0.473000 45 60 0 0 0.000781405 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42162942 42162942 + Silent SNP C C T rs143612275 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:42162942C>T ENST00000444063.1 + 12 1480 c.1348C>T c.(1348-1350)Ctg>Ttg p.L450L L3MBTL1_ENST00000427442.2_Silent_p.L518L|L3MBTL1_ENST00000373135.3_Silent_p.L450L|L3MBTL1_ENST00000418998.1_Silent_p.L518L|L3MBTL1_ENST00000373134.1_Silent_p.L450L Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 450 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TCACAGCTTCCTGGTCAATAT 0.622000 26 69 0 0 0.00106085 0 0 OR2L3 391192 broad.mit.edu 37 1 248224344 248224344 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:248224344C>T ENST00000359959.3 + 1 361 c.361C>T c.(361-363)Cgt>Tgt p.R121C OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGCCTATGATCGTTACATTGC 0.443000 95 59 0 0 0.000781405 0 0 MGAT5B 146664 broad.mit.edu 37 17 74922790 74922790 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:74922790C>T ENST00000569840.2 + 10 1843 c.1269C>T c.(1267-1269)ccC>ccT p.P423P MGAT5B_ENST00000301618.4_Silent_p.P423P|MGAT5B_ENST00000428789.2_Silent_p.P434P NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 423 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACCTCAACCCCAAGCAGTTCA 0.627000 66 49 0 0 0.000781405 0 0 TLR10 81793 broad.mit.edu 37 4 38776112 38776112 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:38776112C>T ENST00000308973.4 - 4 1705 c.1100G>A c.(1099-1101)aGa>aAa p.R367K TLR10_ENST00000361424.2_Missense_Mutation_p.R367K|TLR10_ENST00000506111.1_Missense_Mutation_p.R367K|TLR10_ENST00000508334.1_Missense_Mutation_p.R367K NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 367 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TTGGATAGTTCTTTTAAACAA 0.348000 29 51 0 0 0.00127121 0 0 PIR 8544 broad.mit.edu 37 X 15477785 15477785 + Silent SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:15477785A>G ENST00000380421.3 - 4 728 c.268T>C c.(268-270)Ttg>Ctg p.L90L PIR_ENST00000380420.5_Silent_p.L90L|PIR_ENST00000476381.1_5'UTR NM_001018109.2|NM_003662.3 NP_001018119.1|NP_003653.1 O00625 PIR_HUMAN pirin (iron-binding nuclear protein) 90 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 Hepatocellular(33;0.183) CATACCTGCAAATCTCCTGGG 0.483000 118 17 0 0 0.000781405 0 0 IL21R 50615 broad.mit.edu 37 16 27460449 27460449 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:27460449G>A ENST00000337929.3 + 9 1935 c.1462G>A c.(1462-1464)Gac>Aac p.D488N IL21R_ENST00000395755.1_Missense_Mutation_p.D488N|IL21R_ENST00000564089.1_Missense_Mutation_p.D488N|IL21R_ENST00000395754.4_Missense_Mutation_p.D488N|IL21R-AS1_ENST00000563191.1_RNA NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 488 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 CCTGGATATGGACACGTTTGA 0.672000 T BCL6 NHL 14 38 0 0 0.000308642 0 0 OR5M1 390168 broad.mit.edu 37 11 56380885 56380885 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56380885G>A ENST00000526538.1 - 1 93 c.94C>T c.(94-96)Ctt>Ttt p.L32F NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TAGATCGCAAGGAATACCCCA 0.483000 24 62 0 0 0.000720815 0 0 SPANXC 64663 broad.mit.edu 37 X 140336564 140336564 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140336564C>T ENST00000358993.2 - 1 65 c.27G>A c.(25-27)ggG>ggA p.G9G NM_022661.2 NP_073152.1 Q9NY87 SPNXC_HUMAN SPANX family, member C 9 cytoplasm|nucleus large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) TCCTCTTCACCCCGCCGGCAC 0.493000 54 10 0 0 0.000781405 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 69 28 0 0 0.000781405 0 0 USH1C 10083 broad.mit.edu 37 11 17523497 17523497 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:17523497G>A ENST00000005226.7 - 21 2214 c.2215C>T c.(2215-2217)Ccc>Tcc p.P739S USH1C_ENST00000527020.1_Missense_Mutation_p.P420S|USH1C_ENST00000318024.4_Missense_Mutation_p.P439S|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.P408S NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 439 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 ATAGAGTAGGGGTCAAAGCCT 0.542000 7 24 0 0 0.000157383 0 0 DOPEY2 9980 broad.mit.edu 37 21 37660349 37660349 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:37660349C>T ENST00000399151.3 + 33 6283 c.6198C>T c.(6196-6198)tcC>tcT p.S2066S NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 2066 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GACAGACATCCATAGTTGCTG 0.378000 57 74 0 0 0.000781405 0 0 TBX18 9096 broad.mit.edu 37 6 85470044 85470044 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:85470044G>A ENST00000369663.5 - 3 865 c.528C>T c.(526-528)atC>atT p.I176I TBX18_ENST00000606784.1_Silent_p.I18I|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 176 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTAATCCAGAGATCTTCACTC 0.393000 19 5 0 0 0.00188189 0 0 MUC16 94025 broad.mit.edu 37 19 9086177 9086177 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9086177C>T ENST00000397910.4 - 1 5841 c.5638G>A c.(5638-5640)Gat>Aat p.D1880N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1880 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGAGGTATCAGAGCCGTTT 0.507000 22 11 0 0 0.000375601 0 0 MBNL1 4154 broad.mit.edu 37 3 152150596 152150596 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:152150596C>T ENST00000282486.6 + 4 2278 c.436C>T c.(436-438)Ccg>Tcg p.P146S MBNL1_ENST00000463374.1_Missense_Mutation_p.P146S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000493459.1_Missense_Mutation_p.P89S|MBNL1_ENST00000357472.3_Missense_Mutation_p.P146S|MBNL1_ENST00000324210.5_Missense_Mutation_p.P146S|MBNL1_ENST00000324196.5_Missense_Mutation_p.P146S|MBNL1_ENST00000498502.1_Missense_Mutation_p.P146S|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485509.1_Missense_Mutation_p.P146S|MBNL1_ENST00000492948.1_Missense_Mutation_p.P146S|MBNL1_ENST00000355460.2_Missense_Mutation_p.P146S Q9NR56 MBNL1_HUMAN muscleblind-like splicing regulator 1 146 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AAGCCTGGTCCCGGCAGAGAT 0.517000 111 132 0 0 0.000781405 0 0 KLKB1 3818 broad.mit.edu 37 4 187172455 187172455 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:187172455C>T ENST00000264690.6 + 8 1028 c.841C>T c.(841-843)Ctt>Ttt p.L281F KLKB1_ENST00000513864.1_Missense_Mutation_p.L281F NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 281 Apple 3. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TGGATATAGCCTTTTAACCTG 0.299000 35 15 0 0 0.00222228 0 0 NTSR2 23620 broad.mit.edu 37 2 11802346 11802346 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:11802346G>A ENST00000306928.5 - 2 679 c.645C>T c.(643-645)ttC>ttT p.F215F NM_012344.3 NP_036476.1 O95665 NTR2_HUMAN neurotensin receptor 2 215 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) AGGGGAGCACGAAGGACACCA 0.642000 79 51 0 0 0.000781405 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12823137 12823137 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:12823137C>T ENST00000379672.5 + 6 753 c.453C>T c.(451-453)tcC>tcT p.S151S ARHGAP44_ENST00000262444.9_Silent_p.S151S|ARHGAP44_ENST00000340825.3_Silent_p.S151S NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 151 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 ACATGGATTCCTCACGAACCA 0.388000 26 0 0 0 0.00106085 0 0 CHST9 83539 broad.mit.edu 37 18 24496436 24496436 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:24496436C>T ENST00000284224.8 - 6 1396 c.1119G>A c.(1117-1119)ttG>ttA p.L373L AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Silent_p.L373L NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 373 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) CATCTTCTTCCAAAGTCTCAA 0.423000 41 63 0 0 0.00195071 0 0 NUP214 8021 broad.mit.edu 37 9 134038512 134038512 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:134038512C>T ENST00000359428.5 + 19 2819 c.2675C>T c.(2674-2676)tCc>tTc p.S892F RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S882F|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S893F|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 892 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AAACAGACTTCCCTGTGGAGC 0.493000 T """DEK, SET, ABL1""" """AML, T-ALL""" 56 8 0 0 0.000781405 0 0 ELOVL7 79993 broad.mit.edu 37 5 60053414 60053414 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:60053414G>A ENST00000505959.1 - 10 1045 c.519C>T c.(517-519)tcC>tcT p.S173S ELOVL7_ENST00000425382.1_Silent_p.S186S|ELOVL7_ENST00000438340.1_Silent_p.S186S|ELOVL7_ENST00000508821.1_Silent_p.S186S A1L3X0 ELOV7_HUMAN ELOVL fatty acid elongase 7 186 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) GTCCATAGTAGGAATACATGA 0.373000 24 31 0 0 0.00047179 0 0 ARMC4 55130 broad.mit.edu 37 10 28272861 28272861 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:28272861G>A ENST00000305242.5 - 6 822 c.730C>T c.(730-732)Cgt>Tgt p.R244C ARMC4_ENST00000239715.3_Missense_Mutation_p.R101C NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 244 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ATTTCCCCACGAATTTGTCTC 0.403000 27 19 0 0 0.000878237 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31484848 31484848 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31484848C>T ENST00000394863.3 + 2 230 c.100C>T c.(100-102)Cct>Tct p.P34S TGFB1I1_ENST00000567607.1_Missense_Mutation_p.P17S|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.P17S|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.P17S NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 34 Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 GCCTCTCACCCCTCCCCCATC 0.647000 22 34 0 0 0.00229938 0 0 ADAM33 80332 broad.mit.edu 37 20 3655204 3655204 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3655204C>T ENST00000356518.2 - 6 788 c.547G>A c.(547-549)Gat>Aat p.D183N ADAM33_ENST00000350009.2_Missense_Mutation_p.D183N|ADAM33_ENST00000379861.4_Missense_Mutation_p.D183N NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 183 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 TTCCCAGGATCCCTGTGGCCA 0.607000 70 34 0 0 0.000781405 0 0 SLC35F4 341880 broad.mit.edu 37 14 58060803 58060803 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:58060803G>T ENST00000556826.1 - 2 379 c.143C>A c.(142-144)gCc>gAc p.A48D SLC35F4_ENST00000557430.1_5'UTR|SLC35F4_ENST00000339762.6_Missense_Mutation_p.A84D|SLC35F4_ENST00000554729.1_5'UTR NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GGGGCAGTTGGCTCCTGGTTT 0.463000 13 10 7.03913e-09 3.37137e-08 0.00136819 1 0 BTBD9 114781 broad.mit.edu 37 6 38547997 38547997 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:38547997C>G ENST00000481247.1 - 5 1182 c.1031G>C c.(1030-1032)aGc>aCc p.S344T BTBD9_ENST00000314100.6_Missense_Mutation_p.S276T|BTBD9_ENST00000403056.1_Missense_Mutation_p.S344T|BTBD9_ENST00000419706.2_Missense_Mutation_p.S285T|BTBD9_ENST00000408958.1_Missense_Mutation_p.S276T NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 344 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 CACTTACCGGCTATCTCGGTC 0.413000 16 26 0 0 0.000422831 0 0 KIF18B 146909 broad.mit.edu 37 17 43003827 43003827 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:43003827G>A ENST00000587309.1 - 15 2466 c.2443C>T c.(2443-2445)Ccc>Tcc p.P815S KIF18B_ENST00000438933.2_Missense_Mutation_p.P815S|KIF18B_ENST00000590129.1_Missense_Mutation_p.P824S|KIF18B_ENST00000339151.4_Missense_Mutation_p.P806S|KIF18B_ENST00000593135.1_Missense_Mutation_p.P803S NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) GTGCTGCTGGGGAGGCGGGCG 0.622000 9 3 0 0 0.00136819 0 0 EHD1 10938 broad.mit.edu 37 11 64622318 64622318 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64622318C>T ENST00000320631.3 - 5 1346 c.1092G>A c.(1090-1092)caG>caA p.Q364Q EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.Q364Q NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 364 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 AGTCCTGGGTCTGCAGGAGTT 0.627000 60 155 0 0 0.000781405 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140746171 140746171 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140746171C>T ENST00000518069.1 + 1 2274 c.2274C>T c.(2272-2274)tcC>tcT p.S758S PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGAGGTCTCCCTCACCGCGG 0.597000 65 46 0 0 0.000781405 0 0 PANX1 24145 broad.mit.edu 37 11 93912978 93912978 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:93912978C>T ENST00000227638.3 + 4 1141 c.756C>T c.(754-756)atC>atT p.I252I PANX1_ENST00000436171.2_Silent_p.I252I NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 252 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AATCAGGGATCCTGAGAAACG 0.478000 55 4 0 0 0.000781405 0 0 TM7SF3 51768 broad.mit.edu 37 12 27127114 27127114 + Silent SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:27127114A>G ENST00000343028.4 - 12 1722 c.1497T>C c.(1495-1497)atT>atC p.I499I RP11-421F16.3_ENST00000500632.1_RNA NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 499 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) TCTGTAACGTAATTCCACTTA 0.428000 24 24 0 0 0.00047179 0 0 NLRP14 338323 broad.mit.edu 37 11 7063772 7063772 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:7063772C>T ENST00000299481.4 + 4 861 c.515C>T c.(514-516)aCc>aTc p.T172I NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 172 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GATGTCAAAACCGGTGCACAG 0.478000 23 24 0 0 0.000375601 0 0 ZNF510 22869 broad.mit.edu 37 9 99521932 99521932 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:99521932G>A ENST00000375231.1 - 6 1830 c.1180C>T c.(1180-1182)Cgc>Tgc p.R394C ZNF510_ENST00000223428.4_Missense_Mutation_p.R394C Q9Y2H8 ZN510_HUMAN zinc finger protein 510 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) CTTCTTCGGCGAACTCTGTGA 0.398000 91 17 0 0 0.000781405 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 49 8 0 0 0.000781405 0 0 C5orf45 51149 broad.mit.edu 37 5 179269064 179269064 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:179269064C>T ENST00000518219.1 - 5 303 c.291_splice c.e5-1 p.E98_splice C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000520698.1_Splice_Site_p.E43_splice|C5orf45_ENST00000403396.2_Splice_Site_p.E140_splice|C5orf45_ENST00000292586.6_Splice_Site_p.E98_splice|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000518235.1_Splice_Site_p.E98_splice|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000376931.2_Splice_Site_p.E43_splice Q6NTE8 CE045_HUMAN chromosome 5 open reading frame 45 98 breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 TGCGATTTTTCCTGCCAGATT 0.488000 10 239 0 0 0.000673444 0 0 LPHN2 23266 broad.mit.edu 37 1 82409080 82409080 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:82409080C>T ENST00000370728.1 + 8 1470 c.825C>T c.(823-825)gtC>gtT p.V275V LPHN2_ENST00000319517.6_Silent_p.V275V|LPHN2_ENST00000370721.1_Silent_p.V279V|LPHN2_ENST00000370725.1_Silent_p.V275V|LPHN2_ENST00000370717.2_Silent_p.V275V|LPHN2_ENST00000335786.5_Silent_p.V275V|LPHN2_ENST00000359929.3_Silent_p.V275V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.V275V|LPHN2_ENST00000271029.4_Silent_p.V275V|LPHN2_ENST00000370715.1_Silent_p.V275V|LPHN2_ENST00000370727.1_Silent_p.V275V|LPHN2_ENST00000370730.1_Silent_p.V275V|LPHN2_ENST00000370713.1_Silent_p.V275V|LPHN2_ENST00000370723.1_Silent_p.V275V O95490 LPHN2_HUMAN latrophilin 2 275 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GTTTATGGGTCATTTACGCCA 0.418000 56 26 0 0 0.000781405 0 0 CAMK2B 816 broad.mit.edu 37 7 44283092 44283092 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:44283092C>T ENST00000395749.2 - 7 525 c.449G>A c.(448-450)gGg>gAg p.G150E CAMK2B_ENST00000395747.2_Missense_Mutation_p.G150E|CAMK2B_ENST00000258682.6_Missense_Mutation_p.G150E|CAMK2B_ENST00000358707.3_Missense_Mutation_p.G150E|CAMK2B_ENST00000353625.4_Missense_Mutation_p.G150E|CAMK2B_ENST00000346990.4_Missense_Mutation_p.G150E|CAMK2B_ENST00000350811.3_Missense_Mutation_p.G150E|CAMK2B_ENST00000347193.4_Missense_Mutation_p.G150E|CAMK2B_ENST00000502837.2_Missense_Mutation_p.G21E|CAMK2B_ENST00000440254.2_Missense_Mutation_p.G150E|CAMK2B_ENST00000457475.1_Missense_Mutation_p.G150E NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 150 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CACTGCAGCCCCTTTGCACTT 0.607000 25 56 0 0 0.000720815 0 0 DNAH5 1767 broad.mit.edu 37 5 13931332 13931332 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:13931332C>T ENST00000265104.4 - 2 183 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 27 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGCTTGGCTTCCTTCTCTCCC 0.393000 Kartagener syndrome 72 7 0 0 0.000781405 0 0 CEP120 153241 broad.mit.edu 37 5 122758678 122758678 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:122758678G>A ENST00000306467.5 - 1 319 c.15C>T c.(13-15)tcC>tcT p.S5S CEP120_ENST00000306481.6_Intron|CEP120_ENST00000515110.1_Silent_p.S5S|CEP120_ENST00000395431.2_Silent_p.S5S|CEP120_ENST00000328236.5_Silent_p.S5S Q8N960 CE120_HUMAN centrosomal protein 120kDa 5 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 GCAATTGGTCGGATTTGGAGA 0.607000 64 45 0 0 0.000781405 0 0 OR10H5 284433 broad.mit.edu 37 19 15905071 15905071 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:15905071C>T ENST00000308940.8 + 1 311 c.213C>T c.(211-213)atC>atT p.I71I NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TCACCGAGATCCTCTACACCG 0.622000 19 24 0 0 0.000958276 0 0 NT5C1A 84618 broad.mit.edu 37 1 40131815 40131815 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:40131815C>T ENST00000235628.1 - 2 228 c.229G>A c.(229-231)Gag>Aag p.E77K NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 77 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ACGTACTCCTCCACGCCCTGC 0.587000 16 65 0 0 0.00152264 0 0 ATP8B1 5205 broad.mit.edu 37 18 55368546 55368546 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:55368546C>T ENST00000536015.1 - 5 513 c.e5-1 RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_Splice_Site|ATP8B1_ENST00000283684.4_Splice_Site|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GAGGAACTGCCTAAAAGAATA 0.463000 32 31 0 0 0.00058488 0 0 KALRN 8997 broad.mit.edu 37 3 124416492 124416492 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:124416492C>T ENST00000360013.3 + 55 7879 c.7752C>T c.(7750-7752)tcC>tcT p.S2584S KALRN_ENST00000291478.4_Silent_p.S887S|KALRN_ENST00000428018.2_Silent_p.S855S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2583 Fibronectin type-III. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GCTGCACCTCCGTGATTCTCC 0.547000 7 12 0 0 0.000442599 0 0 NTF4 4909 broad.mit.edu 37 19 49565005 49565005 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49565005C>T ENST00000301411.3 - 2 390 c.250G>A c.(250-252)Gaa>Aaa p.E84K NTF4_ENST00000593537.1_Missense_Mutation_p.E84K|NTF4_ENST00000451356.2_Intron NM_006179.4 NP_006170.1 P34130 NTF4_HUMAN neurotrophin 4 84 E -> K (in a patient with primary open- angle glaucoma; uncertain pathological significance). adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity kidney(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GGTGCAGTTTCGCTCACCCCA 0.701000 4 6 0 0 0.00116845 0 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859583 31859583 + Missense_Mutation SNP C C T rs137856992 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:31859583C>T ENST00000334055.3 - 1 172 c.85G>A c.(85-87)Ggc>Agc p.G29S NM_181608.1 NP_853639.1 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 29 intermediate filament endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 CCTCTGTGGCCACAACCATAT 0.532000 80 122 0 0 0.000781405 0 0 CHD7 55636 broad.mit.edu 37 8 61655051 61655051 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:61655051C>T ENST00000423902.2 + 2 1539 c.1060C>T c.(1060-1062)Cca>Tca p.P354S CHD7_ENST00000524602.1_Missense_Mutation_p.P354S|CHD7_ENST00000525508.1_Missense_Mutation_p.P354S NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 354 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGTAGGATTCCCATCAAACAG 0.438000 39 27 0 0 0.00128727 0 0 SLC25A41 284427 broad.mit.edu 37 19 6433579 6433579 + Nonsense_Mutation SNP C C T rs150906124 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:6433579C>T ENST00000321510.6 - 1 194 c.126G>A c.(124-126)tgG>tgA p.W42* NM_173637.3 NP_775908.2 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 42 Pro-rich. transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 AGCCAGGGTTCCAggatgggg 0.547000 19 38 0 0 0.00074312 0 0 BNIP2 663 broad.mit.edu 37 15 59964889 59964889 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:59964889G>A ENST00000267859.3 - 6 978 c.885C>T c.(883-885)ttC>ttT p.F295F BNIP2_ENST00000607373.1_Silent_p.F174F|BNIP2_ENST00000415213.2_Silent_p.F236F Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 174 CRAL-TRIO. anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm calcium ion binding|GTPase activator activity|protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 TTTCAGGCATGAAACAGACAG 0.343000 52 75 0 0 0.000781405 0 0 C5orf42 65250 broad.mit.edu 37 5 37183667 37183667 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:37183667C>T ENST00000274258.7 - 26 4846 c.1259G>A c.(1258-1260)gGt>gAt p.G420D C5orf42_ENST00000425232.2_Missense_Mutation_p.G1539D|C5orf42_ENST00000508244.1_Missense_Mutation_p.G1539D E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1539 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTCCCAAACACCTATTACAGG 0.323000 29 4 0 0 0.00106085 0 0 TBX20 57057 broad.mit.edu 37 7 35288414 35288414 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:35288414C>T ENST00000408931.3 - 3 946 c.420G>A c.(418-420)gtG>gtA p.V140V NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 140 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 CCTCAGGATCCACCCCCGAAA 0.547000 22 34 0 0 0.00047179 0 0 EFTUD1 79631 broad.mit.edu 37 15 82444611 82444611 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:82444611G>A ENST00000268206.7 - 18 2352 c.2184C>T c.(2182-2184)atC>atT p.I728I EFTUD1_ENST00000359445.3_Silent_p.I677I NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 728 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 TTCCTTCAGGGATTTTGCTTT 0.433000 54 114 0 0 0.000781405 0 0 IL6ST 3572 broad.mit.edu 37 5 55237154 55237154 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:55237154G>A ENST00000381298.2 - 17 2825 c.2513C>T c.(2512-2514)tCa>tTa p.S838L IL6ST_ENST00000381294.3_Missense_Mutation_p.S777L|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000502326.3_Missense_Mutation_p.S838L|IL6ST_ENST00000336909.5_Missense_Mutation_p.S838L|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381287.4_3'UTR NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 838 interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) ATTGACTGATGAAACTTGCTT 0.383000 O hepatocellular ca 67 90 0 0 0.000781405 0 0 ARID1A 8289 broad.mit.edu 37 1 27100350 27100350 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:27100350C>T ENST00000324856.7 + 17 4433 c.4062C>T c.(4060-4062)ttC>ttT p.F1354F ARID1A_ENST00000457599.2_Silent_p.F1354F|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Silent_p.F971F NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1354 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCAGCCCCTTCCCCAGCCAGC 0.522000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 156 91 0 0 0.000781405 0 0 IL18R1 8809 broad.mit.edu 37 2 103001405 103001405 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:103001405G>A ENST00000409599.1 + 8 1112 c.756G>A c.(754-756)ggG>ggA p.G252G IL18R1_ENST00000233957.1_Silent_p.G252G Q13478 IL18R_HUMAN interleukin 18 receptor 1 252 Ig-like C2-type 3. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GGATGTTCGGGGAAGAAAATG 0.328000 64 73 0 0 0.000781405 0 0 CD163L1 283316 broad.mit.edu 37 12 7528454 7528454 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7528454G>C ENST00000313599.3 - 10 2585 c.2528C>G c.(2527-2529)tCt>tGt p.S843C CD163L1_ENST00000396630.1_Missense_Mutation_p.S843C|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.S853C Q9NR16 C163B_HUMAN CD163 molecule-like 1 843 SRCR 8. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CACAGAAAGAGATATGGCATC 0.458000 44 27 0 0 0.000781405 0 0 MAS1L 116511 broad.mit.edu 37 6 29455367 29455367 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29455367T>A ENST00000377127.3 - 1 371 c.313A>T c.(313-315)Acg>Tcg p.T105S NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 105 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 TAGGGATTCGTGGCCCCACAG 0.542000 25 27 0 0 0.00047179 0 0 TBPL2 387332 broad.mit.edu 37 14 55902610 55902610 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:55902610C>T ENST00000247219.5 - 3 721 c.651G>A c.(649-651)ctG>ctA p.L217L NM_199047.2 NP_950248.1 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 217 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 CTATTTTCTTCAGATCCAACT 0.299000 22 54 0 0 0.00106085 0 0 HRNR 388697 broad.mit.edu 37 1 152191013 152191013 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152191013G>A ENST00000368801.2 - 3 3167 c.3092C>T c.(3091-3093)tCa>tTa p.S1031L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1031 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCACCCTGAGCCAGACCT 0.597000 114 87 0 0 0.000781405 0 0 CARD9 64170 broad.mit.edu 37 9 139262131 139262131 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:139262131C>T ENST00000371732.5 - 8 1392 c.1227G>A c.(1225-1227)gtG>gtA p.V409V CARD9_ENST00000371734.3_Silent_p.V409V NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 409 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) GCCTGCCCTCCACGGCCAGTA 0.716000 12 1 0 0 0.00136819 0 0 PRSS58 136541 broad.mit.edu 37 7 141952364 141952364 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141952364G>A ENST00000552471.1 - 4 823 c.504C>T c.(502-504)gcC>gcT p.A168A PRSS58_ENST00000547058.2_Silent_p.A168A Q8IYP2 PRS58_HUMAN protease, serine, 58 168 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AGGTTTTATAGGCATCGCGAC 0.428000 31 145 0 0 0.00209593 0 0 KRT4 3851 broad.mit.edu 37 12 53203182 53203182 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:53203182C>T ENST00000293774.4 - 4 1311 c.1041G>A c.(1039-1041)aaG>aaA p.K347K KRT4_ENST00000458244.2_Silent_p.K253K|KRT4_ENST00000551956.1_Silent_p.K273K B4DRS2 B4DRS2_HUMAN keratin 4 273 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CATAGAGGACCTTCAGGAAGT 0.532000 24 66 0 0 0.00127121 0 0 PRSS36 146547 broad.mit.edu 37 16 31157262 31157262 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31157262G>A ENST00000268281.4 - 6 626 c.568C>T c.(568-570)Ccc>Tcc p.P190S PRSS36_ENST00000418068.2_Missense_Mutation_p.P190S|PRSS36_ENST00000569305.1_Missense_Mutation_p.P190S NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 190 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 AGCACCCAGGGGAGAGGCAGA 0.597000 14 8 0 0 0.000566183 0 0 SKIV2L 6499 broad.mit.edu 37 6 31928281 31928281 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31928281C>A ENST00000375394.2 + 5 540 c.427C>A c.(427-429)Cag>Aag p.Q143K SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 143 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GCCAGCCTCCCAGTCCTTATG 0.537000 11 571 1.15088e-07 5.5052e-07 0.000422831 1 0 CACNA2D4 93589 broad.mit.edu 37 12 2016677 2016677 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:2016677T>C ENST00000382722.5 - 6 1072 c.710A>G c.(709-711)aAc>aGc p.N237S CACNA2D4_ENST00000585732.1_Missense_Mutation_p.N237S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.N173S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.N173S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.N237S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.N237S NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 237 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TCTCTGGAAGTTCTCCACGAA 0.453000 5 24 0 0 0.00198382 0 0 MAP3K9 4293 broad.mit.edu 37 14 71267682 71267682 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:71267682G>A ENST00000554752.2 - 2 521 c.522C>T c.(520-522)cgC>cgT p.R174R MAP3K9_ENST00000381250.4_Silent_p.R174R|MAP3K9_ENST00000555993.2_Silent_p.R174R P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 174 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CAGGGTCGTGGCGAGCTGCTT 0.537000 27 68 0 0 0.00106085 0 0 NR4A1 3164 broad.mit.edu 37 12 52448684 52448684 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52448684C>T ENST00000545748.1 + 3 1729 c.734C>T c.(733-735)tCc>tTc p.S245F NR4A1_ENST00000243050.1_Missense_Mutation_p.S191F|NR4A1_ENST00000548232.1_Missense_Mutation_p.S191F|NR4A1_ENST00000550082.1_Missense_Mutation_p.S204F|NR4A1_ENST00000360284.3_Missense_Mutation_p.S204F|NR4A1_ENST00000394824.2_Missense_Mutation_p.S191F|NR4A1_ENST00000394825.1_Missense_Mutation_p.S191F P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 191 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) GCCTTCTTTTCCTTCAGTCCT 0.657000 41 76 0 0 0.00170553 0 0 DUOXA2 405753 broad.mit.edu 37 15 45410015 45410015 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:45410015C>T ENST00000323030.5 + 6 1156 c.871C>T c.(871-873)Cag>Tag p.Q291* DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Intron NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 291 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GGACTGCAGCCAGGAGAGAGG 0.612000 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 67 0 0 0.000781405 0 0 IPO13 9670 broad.mit.edu 37 1 44415498 44415498 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:44415498C>T ENST00000372343.3 + 2 1156 c.494C>T c.(493-495)gCc>gTc p.A165V NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 165 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CGCTGCCTAGCCCTGTTAGAG 0.612000 20 10 0 0 0.00152264 0 0 XIRP2 129446 broad.mit.edu 37 2 168107796 168107796 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:168107796G>A ENST00000409195.1 + 9 9983 c.9894G>A c.(9892-9894)aaG>aaA p.K3298K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.K3076K|XIRP2_ENST00000295237.9_Silent_p.K3298K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3123 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCATCCGCAAGGTTGCAGTGC 0.453000 51 77 0 0 0.000781405 0 0 OR7G3 390883 broad.mit.edu 37 19 9237262 9237262 + Missense_Mutation SNP C C T rs144765135 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9237262C>T ENST00000305444.2 - 1 364 c.365G>A c.(364-366)cGa>cAa p.R122Q NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GGCCACAAATCGATCATAGGC 0.473000 31 61 0 0 0.000491102 0 0 KIAA2018 205717 broad.mit.edu 37 3 113376574 113376574 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:113376574G>A ENST00000316407.4 - 7 4365 c.3955C>T c.(3955-3957)Cca>Tca p.P1319S KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1319S NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1319 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TCATGGCTTGGCTTTAAGAGT 0.453000 75 83 0 0 0.000781405 0 0 NAPSA 9476 broad.mit.edu 37 19 50863041 50863041 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50863041G>A ENST00000253719.2 - 6 955 c.747C>T c.(745-747)ttC>ttT p.F249F NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 249 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TGACTGGCACGAAGGTGAGGG 0.647000 21 93 0 0 0.000375601 0 0 SLC22A15 55356 broad.mit.edu 37 1 116609274 116609274 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:116609274C>T ENST00000369503.4 + 11 1629 c.1499C>T c.(1498-1500)tCg>tTg p.S500L NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 500 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CAGGTGTATTCGTATCGCAGG 0.488000 21 12 0 0 0.000586117 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288190 132288190 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:132288190C>T ENST00000467992.2 + 1 954 c.640C>T c.(640-642)Ccc>Tcc p.P214S CCDC74A_ENST00000295171.6_Missense_Mutation_p.P112S|CCDC74A_ENST00000409856.3_Intron Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 112 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GGCCTCTGCTCCCTTGGGCGC 0.642000 18 29 0 0 0.00178596 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39421256 39421256 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:39421256C>T ENST00000216099.7 + 3 799 c.392C>T c.(391-393)tCt>tTt p.S131F APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.S131F NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 131 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CTGACCATCTCTGCCGCCCGC 0.562000 44 70 0 0 0.000781405 0 0 SCN10A 6336 broad.mit.edu 37 3 38798333 38798333 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38798333C>T ENST00000449082.2 - 9 1121 c.1122G>A c.(1120-1122)atG>atA p.M374I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 374 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CAAAAAAGATCATATAGATTT 0.473000 47 33 0 0 0.000781405 0 0 KDM3B 51780 broad.mit.edu 37 5 137727415 137727415 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:137727415C>T ENST00000314358.5 + 8 2294 c.2094C>T c.(2092-2094)tcC>tcT p.S698S KDM3B_ENST00000394866.1_Silent_p.S354S|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 698 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CAACTGACTCCTCCAAGCTAG 0.582000 32 22 0 0 0.00178596 0 0 TNR 7143 broad.mit.edu 37 1 175348708 175348708 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:175348708G>A ENST00000367674.1 - 9 2651 c.1943C>T c.(1942-1944)aCc>aTc p.T648I TNR_ENST00000263525.2_Missense_Mutation_p.T648I NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 648 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGCCCTGGTGGTTGGACCAAT 0.532000 17 11 0 0 0.00121646 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262217 39262217 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:39262217A>G ENST00000391415.1 + 1 634 c.577A>G c.(577-579)Acc>Gcc p.T193A NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 193 keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 CTATCGCCCAACCTGTGTCAT 0.652000 3 5 0 0 0.000602214 0 0 C17orf47 284083 broad.mit.edu 37 17 56620146 56620146 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56620146G>A ENST00000321691.3 - 1 1583 c.1402C>T c.(1402-1404)Cct>Tct p.P468S RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 468 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCACAGAAAGGGCTAGAGTCT 0.478000 74 178 0 0 0.000781405 0 0 CARS2 79587 broad.mit.edu 37 13 111329397 111329397 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:111329397G>A ENST00000257347.4 - 7 772 c.709C>T c.(709-711)Ccc>Tcc p.P237S CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 237 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) ACCTCCTGGGGTTTGGCCGCC 0.632000 23 37 0 0 0.000375601 0 0 SLC26A3 1811 broad.mit.edu 37 7 107408085 107408085 + Missense_Mutation SNP T T G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:107408085T>G ENST00000340010.5 - 20 2394 c.2210A>C c.(2209-2211)aAa>aCa p.K737T SLC26A3_ENST00000422236.2_Missense_Mutation_p.K624T NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 737 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TTTTCCATCTTTTTCCTGAGA 0.328000 41 13 0 0 0.00148497 0 0 MUC16 94025 broad.mit.edu 37 19 9015627 9015627 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9015627C>T ENST00000397910.4 - 29 38399 c.38196G>A c.(38194-38196)caG>caA p.Q12732Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12734 SEA 5. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAACCAGACTCTGCAGGACTC 0.527000 61 39 0 0 0.000781405 0 0 TDRD7 23424 broad.mit.edu 37 9 100194381 100194381 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:100194381C>T ENST00000355295.4 + 4 719 c.424C>T c.(424-426)Ccg>Tcg p.P142S TDRD7_ENST00000422139.2_Missense_Mutation_p.P68S NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 142 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TAATCCAGCACCGTTAAGAGA 0.388000 55 10 0 0 0.000781405 0 0 PDZK1IP1 10158 broad.mit.edu 37 1 47650768 47650768 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:47650768C>T ENST00000294338.2 - 3 300 c.176_splice c.e3-1 p.E60_splice PDZK1IP1_ENST00000491793.1_5'UTR|PDZK1IP1_ENST00000371885.1_Splice_Site_p.E60_splice NM_005764.3 NP_005755.1 Q13113 PDZ1I_HUMAN PDZK1 interacting protein 1 60 integral to membrane endometrium(1)|lung(1)|prostate(1) 3 TGTGCAGGCTCCCTGGGGATG 0.592000 14 59 0 0 0.000422831 0 0 LIPI 149998 broad.mit.edu 37 21 15517024 15517024 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:15517024G>A ENST00000344577.2 - 9 1303 c.1278C>T c.(1276-1278)ttC>ttT p.F426F LIPI_ENST00000536861.1_Silent_p.F405F NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 405 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) TTGAGCTCTGGAAATATGTCA 0.313000 50 77 0 0 0.000781405 0 0 SV2C 22987 broad.mit.edu 37 5 75427893 75427893 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:75427893C>T ENST00000502798.2 + 2 760 c.318C>T c.(316-318)atC>atT p.I106I SV2C_ENST00000322285.7_Silent_p.I106I NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 106 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AGGACAGCATCGTGTCAGTGG 0.552000 22 21 0 0 0.00152264 0 0 THSD7B 80731 broad.mit.edu 37 2 138414689 138414689 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:138414689G>A ENST00000409968.1 + 24 4512 c.4334G>A c.(4333-4335)cGa>cAa p.R1445Q THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATAACGAACGAACTGTATGG 0.413000 29 33 0 0 0.001512 0 0 XIRP2 129446 broad.mit.edu 37 2 168102710 168102710 + Missense_Mutation SNP C C T rs74627077 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:168102710C>T ENST00000409195.1 + 9 4897 c.4808C>T c.(4807-4809)gCt>gTt p.A1603V XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1381V|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1603V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1428 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATTATCAGGGCTGATCTCAGA 0.363000 24 16 0 0 0.000586117 0 0 ANKRD11 29123 broad.mit.edu 37 16 89345505 89345505 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:89345505G>A ENST00000301030.4 - 9 7905 c.7445C>T c.(7444-7446)cCg>cTg p.P2482L ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2482L NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2482 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTTGCTGAGCGGCTTGCCGTC 0.657000 5 29 0 0 0.00116845 0 0 ANKK1 255239 broad.mit.edu 37 11 113265676 113265676 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:113265676G>A ENST00000303941.3 + 3 600 c.506G>A c.(505-507)tGg>tAg p.W169* NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 169 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CTGTCCAAGTGGATGGAACAG 0.567000 19 2 0 0 0.00188189 0 0 GALNT9 50614 broad.mit.edu 37 12 132683748 132683748 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:132683748G>A ENST00000328957.8 - 9 1467 c.1468C>T c.(1468-1470)Ctc>Ttc p.L490F GALNT9_ENST00000541995.1_Missense_Mutation_p.L124F|GALNT9_ENST00000535228.1_Missense_Mutation_p.L241F|GALNT9_ENST00000397325.2_Missense_Mutation_p.L124F NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) 490 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) CAGGGGTAGAGGATCGCCCGG 0.647000 7 37 0 0 0.000673444 0 0 IGLV4-3 28786 broad.mit.edu 37 22 23214005 23214005 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:23214005G>A ENST00000390318.2 + 0 194 CCATCGAATGGTATCAACAGA 0.572000 65 87 0 0 0.000781405 0 0 OR2M4 26245 broad.mit.edu 37 1 248402323 248402323 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:248402323C>T ENST00000306687.1 + 1 93 c.93C>T c.(91-93)gtC>gtT p.V31V NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTTCTCTGGTCCTGGGCATCT 0.478000 43 35 0 0 0.000589545 0 0 CMYA5 202333 broad.mit.edu 37 5 79027814 79027814 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:79027814G>A ENST00000446378.2 + 2 3257 c.3226G>A c.(3226-3228)Gaa>Aaa p.E1076K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1076 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GTCTCCGCTTGAAGACTTAAG 0.413000 32 36 0 0 0.00209593 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593811 16593811 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:16593811G>A ENST00000443444.2 + 1 237 c.97G>A c.(97-99)Ggg>Agg p.G33R CCDC144A_ENST00000340621.5_Missense_Mutation_p.G33R|CCDC144A_ENST00000399273.1_Missense_Mutation_p.G33R|CCDC144A_ENST00000456009.1_Missense_Mutation_p.G33R|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.G33R|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Missense_Mutation_p.G33R A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 33 CGGGAGCCAGGGGGACCAGTG 0.657000 21 3 0 0 0.00152264 0 0 OR2K2 26248 broad.mit.edu 37 9 114089881 114089881 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:114089881C>T ENST00000374428.1 - 1 919 c.920G>A c.(919-921)gGa>gAa p.G307E OR2K2_ENST00000302681.1_Missense_Mutation_p.G278E Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 GGTAAGCACTCCGTAAAGCAA 0.378000 36 4 0 0 0.000814825 0 0 BTBD8 284697 broad.mit.edu 37 1 92595247 92595247 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:92595247C>T ENST00000370382.3 + 5 933 c.666C>T c.(664-666)gcC>gcT p.A222A BTBD8_ENST00000540648.1_Silent_p.A222A|BTBD8_ENST00000342818.3_Silent_p.A222A Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 222 BTB 2. nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) CCTTTAGGGCCATTTTGAGTG 0.358000 50 20 0 0 0.000781405 0 0 CCDC11 220136 broad.mit.edu 37 18 47777253 47777253 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:47777253C>T ENST00000398545.4 - 5 988 c.871G>A c.(871-873)Gcc>Acc p.A291T NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 291 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TCTTGTAGGGCTTTTTGCAAA 0.418000 120 141 0 0 0.000781405 0 0 CSMD1 64478 broad.mit.edu 37 8 3165994 3165994 + Silent SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:3165994G>T ENST00000520002.1 - 25 4221 c.3666C>A c.(3664-3666)ggC>ggA p.G1222G CSMD1_ENST00000542608.1_Silent_p.G1221G|CSMD1_ENST00000400186.3_Silent_p.G1222G|CSMD1_ENST00000537824.1_Silent_p.G1221G|CSMD1_ENST00000539096.1_Silent_p.G1221G|CSMD1_ENST00000602557.1_Silent_p.G1222G|CSMD1_ENST00000602723.1_Silent_p.G1222G Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1222 Sushi 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGTTAGGGATGCCCGGATCCT 0.483000 4 13 1.024e-07 4.90237e-07 0.000602214 1 0 FAM45B 55855 broad.mit.edu 37 X 129629636 129629636 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:129629636G>A ENST00000458525.1 - 0 1015 FAM45B_ENST00000592932.1_RNA AGTTTGGAATGGAAACTGTTA 0.468000 24 4 0 0 0.00106085 0 0 TMEM143 55260 broad.mit.edu 37 19 48845857 48845857 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:48845857G>A ENST00000293261.3 - 6 1221 c.905C>T c.(904-906)aCc>aTc p.T302I TMEM143_ENST00000435956.3_Missense_Mutation_p.T267I|TMEM143_ENST00000436660.2_Missense_Mutation_p.T237I|TMEM143_ENST00000541566.1_Missense_Mutation_p.T192I|TMEM143_ENST00000377431.2_Missense_Mutation_p.T202I NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 302 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) CTTGAGGTCGGTTAGCACCAC 0.662000 10 21 0 0 0.00136819 0 0 BIRC8 112401 broad.mit.edu 37 19 53793363 53793363 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53793363C>T ENST00000426466.1 - 1 1512 c.265G>A c.(265-267)Gga>Aga p.G89R NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 89 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) ACCAGAGCTCCCTCAAGTGAA 0.393000 80 73 0 0 0.000781405 0 0 PTPN13 5783 broad.mit.edu 37 4 87724936 87724936 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:87724936G>A ENST00000436978.1 + 43 7075 c.6595G>A c.(6595-6597)Ggt>Agt p.G2199S PTPN13_ENST00000427191.2_Missense_Mutation_p.G2175S|PTPN13_ENST00000411767.2_Missense_Mutation_p.G2194S|PTPN13_ENST00000511467.1_Missense_Mutation_p.G2199S|PTPN13_ENST00000316707.6_Missense_Mutation_p.G2003S NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 2194 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TAAATACACGGGTGCCAACTT 0.448000 34 58 0 0 0.000491102 0 0 CGNL1 84952 broad.mit.edu 37 15 57730875 57730875 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:57730875C>T ENST00000281282.5 + 2 756 c.678C>T c.(676-678)gaC>gaT p.D226D NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 226 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TCATAGAGGACCCCAAAAAGC 0.562000 36 88 0 0 0.000692331 0 0 VOPP1 81552 broad.mit.edu 37 7 55588791 55588791 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:55588791G>A ENST00000285279.5 - 2 287 c.87C>T c.(85-87)ttC>ttT p.F29F VOPP1_ENST00000471168.1_5'UTR|VOPP1_ENST00000545390.1_Silent_p.F26F|VOPP1_ENST00000427700.1_Silent_p.F27F|VOPP1_ENST00000433959.1_Silent_p.F20F|VOPP1_ENST00000454227.1_5'UTR|VOPP1_ENST00000428097.1_5'UTR|VOPP1_ENST00000428648.1_5'UTR|VOPP1_ENST00000418904.1_Silent_p.F12F NM_030796.3 NP_110423.3 Q96AW1 VOPP1_HUMAN vesicular, overexpressed in cancer, prosurvival protein 1 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 AGAGTCCTTCGAAATACCAGC 0.398000 4 4 0 0 0.000602214 0 0 SIMC1 375484 broad.mit.edu 37 5 175716958 175716958 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:175716958C>A ENST00000443967.1 + 4 781 c.374C>A c.(373-375)cCa>cAa p.P125Q SIMC1_ENST00000429602.2_Missense_Mutation_p.P144Q|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR SUMO-interacting motifs containing 1 GTAGGTCCCCCACCCGCTACA 0.498000 10 47 1.96292e-10 9.41316e-10 0.00152264 1 0 GDF15 9518 broad.mit.edu 37 19 18499352 18499352 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:18499352C>T ENST00000595973.1 + 3 1085 c.534C>T c.(532-534)ccC>ccT p.P178P GDF15_ENST00000252809.3_Silent_p.P178P Q99988 GDF15_HUMAN growth differentiation factor 15 178 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 CCGCACGGCCCCAGCTGGAGT 0.731000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 11 0 0 0.00116845 0 0 UNC5A 90249 broad.mit.edu 37 5 176306743 176306743 + Silent SNP C C T rs142194384 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176306743C>T ENST00000329542.4 + 15 2659 c.2385C>T c.(2383-2385)tcC>tcT p.S795S UNC5A_ENST00000261961.3_Silent_p.S755S NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 795 Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTTTGCCTCCAAGCCCAGCC 0.701000 36 35 0 0 0.00148497 0 0 MORC1 27136 broad.mit.edu 37 3 108813765 108813765 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108813765C>T ENST00000232603.5 - 7 656 c.574G>A c.(574-576)Gga>Aga p.G192R MORC1_ENST00000483760.1_Missense_Mutation_p.G192R NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 192 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CCACATTTTCCATAGATCACA 0.308000 19 20 0 0 0.00229938 0 0 CSMD2 114784 broad.mit.edu 37 1 34174710 34174710 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:34174710G>A ENST00000373381.4 - 22 3731 c.3555C>T c.(3553-3555)ctC>ctT p.L1185L CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.L58L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1145 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTCCTTCGGAGAGTTCGAATG 0.433000 74 44 0 0 0.000781405 0 0 DCDC1 341019 broad.mit.edu 37 11 31115625 31115625 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:31115625G>A ENST00000597505.1 - 14 2089 c.2090C>T c.(2089-2091)cCt>cTt p.P697L DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ACTGGCTACAGGCCACAGGAT 0.532000 64 51 0 0 0.000781405 0 0 NUP210L 91181 broad.mit.edu 37 1 153973397 153973397 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:153973397G>A ENST00000368559.3 - 37 5392 c.5321C>T c.(5320-5322)tCc>tTc p.S1774F NUP210L_ENST00000271854.3_Intron|NUP210L_ENST00000368553.1_Intron NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1774 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GAGTACACAGGAAATATTGAT 0.453000 123 79 0 0 0.000781405 0 0 FLNB 2317 broad.mit.edu 37 3 58154221 58154221 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:58154221C>T ENST00000295956.4 + 44 7418 c.7253C>T c.(7252-7254)tCc>tTc p.S2418F FLNB_ENST00000419752.2_Missense_Mutation_p.S2238F|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.S2225F|FLNB_ENST00000429972.2_Missense_Mutation_p.S2407F|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000348383.5_Missense_Mutation_p.S2377F|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000490882.1_Missense_Mutation_p.S2449F|FLNB_ENST00000358537.3_Missense_Mutation_p.S2394F NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2418 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGGACATTATCCGTCACCATC 0.488000 23 1 0 0 0.000878237 0 0 PLCL1 5334 broad.mit.edu 37 2 198948707 198948707 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:198948707G>A ENST00000428675.1 + 2 864 c.466G>A c.(466-468)Gcc>Acc p.A156T PLCL1_ENST00000437704.2_Missense_Mutation_p.A58T NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 156 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CCTCGAGAAAGCCAAGCTTGA 0.453000 44 53 0 0 0.00195071 0 0 LIG1 3978 broad.mit.edu 37 19 48620928 48620928 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:48620928G>A ENST00000263274.7 - 26 2969 c.2550C>T c.(2548-2550)tcC>tcT p.S850S LIG1_ENST00000536218.1_Silent_p.S782S|LIG1_ENST00000427526.2_Silent_p.S819S NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 850 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TGGGAGAGAGGGAGAGGTCAG 0.657000 Nucleotide excision repair (NER) 6 16 0 0 0.00116845 0 0 MVB12B 89853 broad.mit.edu 37 9 129143402 129143402 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:129143402C>T ENST00000361171.3 + 3 345 c.264C>T c.(262-264)tcC>tcT p.S88S MVB12B_ENST00000535766.1_Silent_p.S81S|MVB12B_ENST00000436593.3_Silent_p.S73S|MVB12B_ENST00000545391.1_Silent_p.S88S NM_033446.2 NP_258257.1 multivesicular body subunit 12B TATTTAAATCCAAGGTTACCA 0.423000 16 3 0 0 0.00152264 0 0 OR52A1 23538 broad.mit.edu 37 11 5173450 5173450 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:5173450G>A ENST00000380367.1 - 2 567 c.150C>T c.(148-150)atC>atT p.I50I OR52A1_ENST00000328942.1_Silent_p.I50I Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 50 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGATTTGATGATGCTCAGAA 0.463000 19 24 0 0 0.00188189 0 0 DCC 1630 broad.mit.edu 37 18 50278697 50278697 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:50278697G>A ENST00000442544.2 + 2 981 c.365G>A c.(364-366)gGa>gAa p.G122E DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 122 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.G122E(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCATCTTTAGGAGATTCTGGC 0.438000 56 62 0 0 0.000781405 0 0 CTC1 80169 broad.mit.edu 37 17 8137886 8137886 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:8137886G>C ENST00000315684.8 - 10 1712 c.1705C>G c.(1705-1707)Cct>Gct p.P569A NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 569 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 AGGGCCTTAGGGTCAAAGGAG 0.632000 13 2 0 0 0.000308642 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558523 140558523 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140558523G>A ENST00000239444.2 + 1 1153 c.908G>A c.(907-909)cGa>cAa p.R303Q NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 303 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGAAATTCGACTAAAGAAA 0.393000 37 57 0 0 0.000953801 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913819 77913819 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:77913819G>A ENST00000321110.1 - 2 394 c.99C>T c.(97-99)ctC>ctT p.L33L NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 33 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TCTGGGCCTGGAGAGCAGCAT 0.522000 11 3 0 0 0.00185496 0 0 FZD10 11211 broad.mit.edu 37 12 130648351 130648351 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:130648351C>T ENST00000539839.1 + 1 1348 c.766C>T c.(766-768)Cgc>Tgc p.R256C FZD10_ENST00000229030.4_Silent_p.I288I NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CCGAGAGCATCGCCTGCGACC 0.642000 46 36 0 0 0.000781405 0 0 RBM34 23029 broad.mit.edu 37 1 235316029 235316029 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:235316029G>A ENST00000408888.3 - 5 879 c.649C>T c.(649-651)Cgt>Tgt p.R217C RBM34_ENST00000366606.3_Missense_Mutation_p.R212C P42696 RBM34_HUMAN RNA binding motif protein 34 217 RRM 1. nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) ACCAGAGAACGAAATCGTACA 0.299000 43 32 0 0 0.000781405 0 0 FAT4 79633 broad.mit.edu 37 4 126412574 126412574 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:126412574G>A ENST00000394329.3 + 17 14610 c.14597G>A c.(14596-14598)aGa>aAa p.R4866K FAT4_ENST00000335110.5_Missense_Mutation_p.R3107K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4866 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATACTTCCAGAATGCCCAAA 0.448000 19 19 0 0 0.000958276 0 0 DLL4 54567 broad.mit.edu 37 15 41229658 41229658 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:41229658G>A ENST00000249749.5 + 10 2262 c.1986G>A c.(1984-1986)agG>agA p.R662R NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 662 blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCTCCCCCAGGGACTCCATGT 0.552000 116 104 0 0 0.000781405 0 0 WNT3 7473 broad.mit.edu 37 17 44845943 44845943 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:44845943C>T ENST00000225512.5 - 4 973 c.811G>A c.(811-813)Gag>Aag p.E271K NM_030753.4 NP_110380.1 P56703 WNT3_HUMAN wingless-type MMTV integration site family, member 3 271 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(9;0.0257) AGGTCCCTCTCCGTGGGTGGC 0.592000 18 60 0 0 0.000958276 0 0 DNAH5 1767 broad.mit.edu 37 5 13700980 13700980 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:13700980C>T ENST00000265104.4 - 78 13596 c.13491_splice c.e78-1 p.E4498_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4498 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E4498K(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGAGTTATTTCCTATTCAGGG 0.453000 Kartagener syndrome 71 10 0 0 0.000781405 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37441020 37441020 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:37441020G>A ENST00000374660.1 + 12 1609 c.1510G>A c.(1510-1512)Gac>Aac p.D504N ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D504N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D504N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 560 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CAAACAAAAGGACTATGAAGA 0.299000 14 58 0 0 0.000422831 0 0 OR5T3 390154 broad.mit.edu 37 11 56020462 56020462 + Missense_Mutation SNP G G A rs141819352 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56020462G>A ENST00000303059.3 + 1 787 c.787G>A c.(787-789)Gga>Aga p.G263R NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G263R(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTCTGCTAAGGGAAGGCAAAA 0.413000 82 95 0 0 0.000781405 0 0 PTCH2 8643 broad.mit.edu 37 1 45295150 45295150 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:45295150G>A ENST00000447098.2 - 9 1150 c.1139C>T c.(1138-1140)tCc>tTc p.S380F PTCH2_ENST00000372192.3_Missense_Mutation_p.S380F NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 380 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CAGGGTGGTGGAGGAGAAGGC 0.612000 Basal Cell Nevus syndrome 93 45 0 0 0.000781405 0 0 P2RX3 5024 broad.mit.edu 37 11 57137384 57137384 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:57137384G>A ENST00000263314.2 + 12 1142 c.1108G>A c.(1108-1110)Gct>Act p.A370T NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 370 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 GAAAATCGCGGCTTTGACCAA 0.552000 4 27 0 0 0.00116845 0 0 DGKQ 1609 broad.mit.edu 37 4 956341 956341 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:956341G>A ENST00000273814.3 - 18 2169 c.2096C>T c.(2095-2097)tCc>tTc p.S699F NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 699 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CAGCAGTACGGAGAACGGGTC 0.647000 17 17 0 0 0.00121646 0 0 SPAG9 9043 broad.mit.edu 37 17 49052262 49052262 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:49052262G>A ENST00000262013.7 - 28 3778 c.3570C>T c.(3568-3570)atC>atT p.I1190I SPAG9_ENST00000357122.4_Silent_p.I1176I|SPAG9_ENST00000510283.1_Silent_p.I1046I|SPAG9_ENST00000505279.1_Silent_p.I1180I NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 1190 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CATATACACGGATTACACTTC 0.413000 29 21 0 0 0.001512 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17053131 17053131 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:17053131G>A ENST00000262096.8 + 4 1066 c.371G>A c.(370-372)gGa>gAa p.G124E NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 124 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) ACCATGTCTGGAGGTAAATGT 0.413000 43 28 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179467247 179467247 + Missense_Mutation SNP T T G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179467247T>G ENST00000589042.1 - 283 55106 c.54882A>C c.(54880-54882)aaA>aaC p.K18294N TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K9421N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K15726N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K9354N|TTN_ENST00000460472.2_Missense_Mutation_p.K9229N|TTN_ENST00000591111.1_Missense_Mutation_p.K16653N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16653 Fibronectin type-III 32. 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) TGGCTGGAGGTTTCCATCCTA 0.408000 4 18 0 0 0.00024832 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13928350 13928350 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:13928350G>A ENST00000602743.1 - 0 224 TCCAGCCAAGGACCAGACCAA 0.602000 43 3 0 0 0.000781405 0 0 CPA5 93979 broad.mit.edu 37 7 130007368 130007368 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:130007368C>T ENST00000485477.1 + 10 2123 c.994C>T c.(994-996)Cct>Tct p.P332S CPA5_ENST00000431780.2_Missense_Mutation_p.P332S|CPA5_ENST00000393213.3_Missense_Mutation_p.P332S|CPA5_ENST00000355388.3_Missense_Mutation_p.P332S|CPA5_ENST00000461828.1_Missense_Mutation_p.P332S|CPA5_ENST00000466363.2_Missense_Mutation_p.P332S|CPA5_ENST00000474905.1_Missense_Mutation_p.P332S Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 332 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) GCTTATGTACCCTTACGGCCG 0.542000 44 94 0 0 0.000781405 0 0 MORC1 27136 broad.mit.edu 37 3 108698393 108698393 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108698393C>T ENST00000232603.5 - 24 2528 c.2446G>A c.(2446-2448)Gaa>Aaa p.E816K MORC1_ENST00000483760.1_Missense_Mutation_p.E795K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 816 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTCACTGTTTCCTTGACAGGT 0.398000 67 70 0 0 0.000781405 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95116051 95116051 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:95116051C>T ENST00000379982.3 + 9 1886 c.1378C>T c.(1378-1380)Ctg>Ttg p.L460L GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Silent_p.L91L NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 460 BTB 2.|Interaction with Rab9. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) AAAGAGTGTCCTGATTCCCGT 0.458000 27 19 0 0 0.000878237 0 0 PIK3R5 23533 broad.mit.edu 37 17 8814745 8814745 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:8814745C>T ENST00000447110.1 - 2 191 c.67G>A c.(67-69)Gga>Aga p.G23R PIK3R5_ENST00000581552.1_Missense_Mutation_p.G23R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.G23R NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 23 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 AGGCTGAGTCCATGCAGGCAG 0.682000 88 7 0 0 0.000781405 0 0 PRAM1 84106 broad.mit.edu 37 19 8563512 8563512 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:8563512G>A ENST00000423345.4 - 2 1700 c.1180C>T c.(1180-1182)Cct>Tct p.P394S PRAM1_ENST00000255612.3_Missense_Mutation_p.P394S Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 442 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 ACGGCCGCAGGCAGTGAGCTC 0.672000 19 8 0 0 0.00188189 0 0 SCN1A 6323 broad.mit.edu 37 2 166901655 166901655 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:166901655G>A ENST00000423058.2 - 10 1577 c.1560C>T c.(1558-1560)ttC>ttT p.F520F SCN1A_ENST00000303395.4_Silent_p.F520F|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F520F|SCN1A_ENST00000409050.1_Silent_p.F520F|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 520 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAGATTTTTGGAATTCATCCT 0.438000 95 119 0 0 0.000781405 0 0 ACSM5 54988 broad.mit.edu 37 16 20439153 20439153 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20439153C>T ENST00000331849.4 + 7 1112 c.965C>T c.(964-966)aCc>aTc p.T322I NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 322 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TGTGTCCCAACCATCTTTCGG 0.473000 53 102 0 0 0.000781405 0 0 AGAP1 116987 broad.mit.edu 37 2 236708057 236708057 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:236708057C>T ENST00000409538.1 + 8 2139 c.1643C>T c.(1642-1644)cCa>cTa p.P548L AGAP1_ENST00000336665.5_Missense_Mutation_p.P283L|AGAP1_ENST00000409457.1_Missense_Mutation_p.P283L|AGAP1_ENST00000428334.2_Missense_Mutation_p.P122L|AGAP1_ENST00000304032.7_Missense_Mutation_p.P283L Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 283 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TCCTCCGTTCCATCGACTCCC 0.517000 33 25 0 0 0.000953801 0 0 NTRK3 4916 broad.mit.edu 37 15 88799275 88799275 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:88799275A>G ENST00000394480.1 - 3 431 c.110T>C c.(109-111)gTc>gCc p.V37A NTRK3_ENST00000540489.2_Missense_Mutation_p.V37A|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000317501.3_Missense_Mutation_p.V37A|NTRK3_ENST00000360948.2_Missense_Mutation_p.V37A|NTRK3_ENST00000558676.1_Missense_Mutation_p.V37A|NTRK3_ENST00000355254.2_Missense_Mutation_p.V37A|NTRK3_ENST00000557856.1_Missense_Mutation_p.V37A|NTRK3_ENST00000357724.2_Missense_Mutation_p.V37A NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 37 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CTTGCTGCAGACACAATTTGC 0.572000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 11 107 0 0 0.00185496 0 0 C20orf85 128602 broad.mit.edu 37 20 56735719 56735719 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:56735719C>T ENST00000371168.3 + 4 316 c.255C>T c.(253-255)gtC>gtT p.V85V NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 85 p.V85V(1) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) CATTCCAGGTCTTTCCATCCC 0.567000 13 34 0 0 0.00185496 0 0 NVL 4931 broad.mit.edu 37 1 224477369 224477369 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:224477369G>A ENST00000281701.6 - 13 1651 c.1392C>T c.(1390-1392)caC>caT p.H464H NVL_ENST00000340871.4_Silent_p.H275H|NVL_ENST00000482491.1_Silent_p.H188H|NVL_ENST00000469075.1_Silent_p.H373H|NVL_ENST00000391875.2_Silent_p.H358H|NVL_ENST00000361463.3_Silent_p.H358H NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 464 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) CTGGAGTTAGGTGTGCTAAGT 0.433000 17 33 0 0 0.00074312 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648648 41648648 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:41648648G>A ENST00000313860.7 + 12 1457 c.1403G>A c.(1402-1404)aGa>aAa p.R468K LIMCH1_ENST00000512946.1_Missense_Mutation_p.R468K|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R309K|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R456K|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R853K|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R468K|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R297K|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R302K|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R314K|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R309K|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R468K|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R302K NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 468 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 ATTCTGGAAAGAAGCCATTCA 0.498000 69 81 0 0 0.000781405 0 0 CYFIP2 26999 broad.mit.edu 37 5 156816240 156816240 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:156816240G>C ENST00000347377.6 + 29 3682 c.3251G>C c.(3250-3252)cGg>cCg p.R1084P CYFIP2_ENST00000521420.1_Missense_Mutation_p.R1058P|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R783P|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R888P|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R1009P|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R1084P|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R1109P NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1109 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCAAGGAGCGGCTGTGCTGT 0.607000 128 102 0 0 0.000781405 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030123 95030123 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95030123C>T ENST00000557004.1 + 2 725 c.304C>T c.(304-306)Ctt>Ttt p.L102F SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.L102F|SERPINA4_ENST00000555095.1_Missense_Mutation_p.L102F P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 102 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CAGCCAGATCCTTGAGGGCCT 0.632000 13 33 0 0 0.00185496 0 0 BSN 8927 broad.mit.edu 37 3 49699171 49699171 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:49699171C>T ENST00000296452.4 + 6 10007 c.9893C>T c.(9892-9894)cCc>cTc p.P3298L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3298 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCATACGATCCCCGCGGGAAG 0.602000 42 6 0 0 0.00195071 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536329 130536329 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:130536329G>A ENST00000314830.8 - 2 568 c.455C>T c.(454-456)cCt>cTt p.P152L SH2D3C_ENST00000471939.1_5'UTR NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 152 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGGGACCTCAGGCTTTCTGAT 0.602000 33 6 0 0 0.00209593 0 0 DDX39B 7919 broad.mit.edu 37 6 31503198 31503198 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31503198G>A ENST00000417556.2 - 7 1356 c.726C>T c.(724-726)ttC>ttT p.F242F DDX39B_ENST00000376177.2_Silent_p.F227F|DDX39B_ENST00000458640.1_Silent_p.F227F|DDX39B_ENST00000396172.1_Silent_p.F227F|DDX39B_ENST00000415382.2_Silent_p.F149F|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000453105.2_Silent_p.F180F Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 227 Helicase ATP-binding. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 AGGTAGCACTGAACATCATGA 0.493000 66 86 0 0 0.000781405 0 0 PDIA2 64714 broad.mit.edu 37 16 336925 336925 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:336925G>A ENST00000219406.6 + 10 1531 c.1513G>A c.(1513-1515)Gag>Aag p.E505K PDIA2_ENST00000404312.1_Missense_Mutation_p.E502K NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 505 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GCCCCCGGAGGAGCCAGCAGC 0.632000 11 6 0 0 0.00185496 0 0 SLC7A14 57709 broad.mit.edu 37 3 170201138 170201138 + Silent SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:170201138G>T ENST00000231706.4 - 6 1395 c.1080C>A c.(1078-1080)gtC>gtA p.V360V CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 360 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TGGCATAAATGACCCTCGGCA 0.547000 OREG0015917 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 76 9.17885e-22 4.43509e-21 0.00058488 1 0 KRT6C 286887 broad.mit.edu 37 12 52867508 52867508 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52867508G>A ENST00000252250.6 - 1 61 c.14C>T c.(13-15)tCc>tTc p.S5F NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 5 Head. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GATGGTGGTGGATGTGCTGGC 0.642000 16 23 0 0 0.000720815 0 0 P2RX7 5027 broad.mit.edu 37 12 121622587 121622587 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121622587C>T ENST00000328963.5 + 12 1714 c.1260C>T c.(1258-1260)ggC>ggT p.G420G P2RX7_ENST00000541446.1_Silent_p.G301G|P2RX7_ENST00000546057.1_Silent_p.G590G|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.G500G A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 590 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGTACAGTGGCTTCAAGAGTC 0.597000 16 56 0 0 0.000308642 0 0 DGKI 9162 broad.mit.edu 37 7 137284623 137284623 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:137284623C>T ENST00000453654.1 - 11 835 c.296G>A c.(295-297)tGg>tAg p.W99* DGKI_ENST00000288490.5_Nonsense_Mutation_p.W399*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.W399*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.W399* O75912 DGKI_HUMAN diacylglycerol kinase, iota 399 Poly-Ala. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATTCAGGTACCACATGAACAT 0.373000 8 60 0 0 0.000673444 0 0 TTYH1 57348 broad.mit.edu 37 19 54930474 54930474 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:54930474C>T ENST00000301194.4 + 2 421 c.299C>T c.(298-300)gCc>gTc p.A100V TTYH1_ENST00000391739.3_Missense_Mutation_p.A149V|TTYH1_ENST00000376531.3_Missense_Mutation_p.A100V|TTYH1_ENST00000376530.3_Missense_Mutation_p.A100V Q9H313 TTYH1_HUMAN tweety family member 1 100 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) GCCCTTCTCGCCGGCTGGTAA 0.706000 15 21 0 0 0.000566183 0 0 ELK4 2005 broad.mit.edu 37 1 205592869 205592869 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:205592869G>A ENST00000357992.4 - 2 481 c.142C>T c.(142-144)Cgc>Tgc p.R48C ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.R48C NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TTGTTCTTGCGAATCCCCCAG 0.448000 T SLC45A3 prostate 102 68 0 0 0.000781405 0 0 CPNE6 9362 broad.mit.edu 37 14 24545039 24545039 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:24545039G>A ENST00000397016.2 + 11 1179 c.868G>A c.(868-870)Gag>Aag p.E290K CPNE6_ENST00000537691.1_Missense_Mutation_p.E345K|CPNE6_ENST00000216775.2_Missense_Mutation_p.E290K O95741 CPNE6_HUMAN copine VI (neuronal) 290 lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) CCTCCAGGTGGAGAAGGTGCA 0.602000 14 33 0 0 0.000566183 0 0 TRIM25 7706 broad.mit.edu 37 17 54969117 54969117 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:54969117G>A ENST00000316881.4 - 9 1886 c.1837C>T c.(1837-1839)Ccg>Tcg p.P613S RP11-670E13.5_ENST00000574826.1_RNA|TRIM25_ENST00000537230.1_Missense_Mutation_p.P613S NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 613 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) CAGAAAGCCGGGTACAAAGCC 0.537000 6 20 0 0 0.00116845 0 0 KCNN3 3782 broad.mit.edu 37 1 154705554 154705554 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:154705554G>A ENST00000271915.3 - 4 1830 c.1515C>T c.(1513-1515)ttC>ttT p.F505F KCNN3_ENST00000358505.2_Silent_p.F192F|KCNN3_ENST00000361147.4_Silent_p.F200F NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 510 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) CAATGGAAAGGAATGTGATGG 0.522000 51 22 0 0 0.000781405 0 0 CEP120 153241 broad.mit.edu 37 5 122722351 122722351 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:122722351G>A ENST00000306467.5 - 10 1745 c.1441C>T c.(1441-1443)Cca>Tca p.P481S CEP120_ENST00000306481.6_Missense_Mutation_p.P455S|CEP120_ENST00000328236.5_Missense_Mutation_p.P481S Q8N960 CE120_HUMAN centrosomal protein 120kDa 481 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 CCAAAGAATGGATATGAGTAC 0.303000 14 25 0 0 0.00185496 0 0 PITX2 5308 broad.mit.edu 37 4 111539383 111539383 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:111539383C>T ENST00000354925.2 - 7 2557 c.852G>A c.(850-852)ctG>ctA p.L284L PITX2_ENST00000306732.3_Silent_p.L291L|PITX2_ENST00000394598.2_Silent_p.L284L|PITX2_ENST00000355080.5_Silent_p.L238L|PITX2_ENST00000394595.3_3'UTR NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 284 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CTTTCAGTCTCAGGCTGGCCA 0.622000 16 19 0 0 0.000308642 0 0 ATXN1 6310 broad.mit.edu 37 6 16326638 16326638 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:16326638T>C ENST00000244769.4 - 8 2840 c.1904A>G c.(1903-1905)gAg>gGg p.E635G ATXN1_ENST00000436367.1_Missense_Mutation_p.E635G NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 635 AXH.|Interaction with USP7.|RNA-binding. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGCTCGGTGCTCCCCGACGGC 0.577000 27 51 0 0 0.00209593 0 0 PHYH 5264 broad.mit.edu 37 10 13330474 13330474 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:13330474G>A ENST00000396920.3 - 6 917 c.513C>T c.(511-513)ctC>ctT p.L171L PHYH_ENST00000263038.4_Silent_p.L188L|PHYH_ENST00000396913.2_Silent_p.L88L O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 188 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) CGCAAACGATGAGATCGCTGG 0.577000 40 23 0 0 0.000781405 0 0 AIM2 9447 broad.mit.edu 37 1 159043271 159043271 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159043271C>T ENST00000368130.4 - 2 307 c.19G>A c.(19-21)Gag>Aag p.E7K NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 7 DAPIN. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) AAGAGTATCTCCTTGTATTTA 0.373000 73 41 0 0 0.000781405 0 0 DNAAF1 123872 broad.mit.edu 37 16 84203607 84203607 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:84203607G>A ENST00000378553.5 + 8 1297 c.1173G>A c.(1171-1173)ccG>ccA p.P391P DNAAF1_ENST00000334315.5_Silent_p.P391P|DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 391 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 AGCTCTGCCCGGAAAAGCCAA 0.582000 32 26 0 0 0.0024448 0 0 SLC17A8 246213 broad.mit.edu 37 12 100806590 100806590 + Missense_Mutation SNP C C T rs77232189 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:100806590C>T ENST00000323346.5 + 10 1542 c.1229C>T c.(1228-1230)tCg>tTg p.S410L SLC17A8_ENST00000392989.3_Missense_Mutation_p.S360L|SLC17A8_ENST00000552697.1_3'UTR NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 410 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 GTTGGCTTTTCGCATACCAAA 0.448000 70 52 0 0 0.000781405 0 0 FBXL3 26224 broad.mit.edu 37 13 77581760 77581760 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:77581760G>A ENST00000355619.5 - 5 1131 c.807C>T c.(805-807)ttC>ttT p.F269F FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 269 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) GAATAGTATGGAAGTGTGTCT 0.373000 25 24 0 0 0.00106085 0 0 KDM2B 84678 broad.mit.edu 37 12 121932437 121932437 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121932437G>A ENST00000377069.4 - 12 1992 c.1586C>T c.(1585-1587)cCt>cTt p.P529L KDM2B_ENST00000377071.4_Missense_Mutation_p.P560L|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.P443L|KDM2B_ENST00000538046.2_Missense_Mutation_p.P470L NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 560 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GGCCAGACTAGGGTCATCATC 0.582000 OREG0022202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 11 0 0 0.000157383 0 0 MCHR2 84539 broad.mit.edu 37 6 100395740 100395740 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:100395740C>T ENST00000281806.2 - 3 604 c.290G>A c.(289-291)gGa>gAa p.G97E MCHR2_ENST00000369212.1_Missense_Mutation_p.G97E|MCHR2_ENST00000445970.1_Missense_Mutation_p.G97E NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 97 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CACCCACTCTCCCCCTCGGGC 0.488000 69 9 0 0 0.000781405 0 0 C1orf116 79098 broad.mit.edu 37 1 207196695 207196695 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:207196695G>A ENST00000359470.5 - 4 663 c.414C>T c.(412-414)atC>atT p.I138I C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 138 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) TGGCAATGTGGATATTCCTAG 0.587000 39 27 0 0 0.00170553 0 0 IGHV1-24 28467 broad.mit.edu 37 14 106733218 106733218 + RNA SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106733218T>C ENST00000390610.2 - 0 336 TCTGTAGATGTGTCCTCGGTC 0.512000 116 100 0 0 0.000781405 0 0 OR1L6 392390 broad.mit.edu 37 9 125512186 125512186 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:125512186C>T ENST00000373684.1 + 1 168 c.168C>T c.(166-168)tcC>tcT p.S56S OR1L6_ENST00000304720.2_Silent_p.S20S Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 GCCTCTCTTCCAACCCTCAGC 0.542000 74 15 0 0 0.000781405 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641620 106641620 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106641620G>A ENST00000390605.2 - 0 352 GCTCCATGTAGGCTGTGCTCG 0.527000 45 147 0 0 0.000781405 0 0 SPDYE3 441272 broad.mit.edu 37 7 99905580 99905580 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:99905580G>A ENST00000332397.6 + 1 256 c.72G>A c.(70-72)caG>caA p.Q24Q SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 24 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 ACCCCCTCCAGGAGGTGGTGG 0.582000 7 2 0 0 0.000157383 0 0 APOL1 8542 broad.mit.edu 37 22 36653381 36653381 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:36653381C>T ENST00000319136.4 + 5 430 c.163C>T c.(163-165)Cca>Tca p.P55S APOL1_ENST00000426053.1_Missense_Mutation_p.P21S|APOL1_ENST00000397279.4_Missense_Mutation_p.P39S|APOL1_ENST00000422706.1_Missense_Mutation_p.P39S|APOL1_ENST00000440669.2_Missense_Mutation_p.P39S|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000397278.3_Missense_Mutation_p.P39S NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 39 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 ACAAAACGTTCCAAGTGGGAC 0.562000 60 75 0 0 0.000781405 0 0 EDN2 1907 broad.mit.edu 37 1 41948200 41948200 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:41948200C>G ENST00000372587.4 - 3 350 c.281G>C c.(280-282)aGg>aCg p.R94T EDN2_ENST00000490783.1_5'UTR NM_001956.3 NP_001947.1 P20800 EDN2_HUMAN endothelin 2 94 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGACAGCGCCTTGGCAGGGA 0.682000 91 31 0 0 0.000781405 0 0 AKR1B10 57016 broad.mit.edu 37 7 134221440 134221440 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:134221440C>T ENST00000359579.4 + 5 788 c.468C>T c.(466-468)gcC>gcT p.A156A AKR1B10_ENST00000475559.1_Intron NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 156 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TGGTGAAAGCCCTTGGGGTCT 0.493000 36 113 0 0 0.00058488 0 0 ABCC9 10060 broad.mit.edu 37 12 21965081 21965081 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:21965081G>A ENST00000261200.4 - 34 4112 c.4113C>T c.(4111-4113)gtC>gtT p.V1371V ABCC9_ENST00000345162.2_Silent_p.V1335V|ABCC9_ENST00000261201.4_Silent_p.V1371V NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1371 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCCCATCAATGACAATTTTTC 0.323000 47 41 0 0 0.000781405 0 0 STXBP5L 9515 broad.mit.edu 37 3 120941855 120941855 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:120941855C>T ENST00000273666.6 + 11 1233 c.962C>T c.(961-963)cCa>cTa p.P321L STXBP5L_ENST00000497029.1_Missense_Mutation_p.P321L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P321L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P321L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P321L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 321 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TGTAGCGAACCATTCATAATA 0.373000 40 82 0 0 0.00195071 0 0 IGDCC3 9543 broad.mit.edu 37 15 65622704 65622704 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:65622704G>A ENST00000327987.4 - 11 2036 c.1785C>T c.(1783-1785)ctC>ctT p.L595L NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 595 Fibronectin type-III 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGTTGTAGGCGAGCAGCTTCA 0.612000 38 73 0 0 0.00195071 0 0 TRIM72 493829 broad.mit.edu 37 16 31234160 31234160 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31234160C>T ENST00000322122.3 + 6 1037 c.753C>T c.(751-753)atC>atT p.I251I NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 251 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 TGCAGAAGATCCTGGCAGAGT 0.612000 4 30 0 0 0.000602214 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581424 40581424 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:40581424C>T ENST00000450241.2 - 6 1134 c.823G>A c.(823-825)Gaa>Aaa p.E275K ZNF780A_ENST00000340963.5_Missense_Mutation_p.E309K|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E309K|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E310K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E310K|AC005614.5_ENST00000595508.1_RNA O75290 Z780A_HUMAN zinc finger protein 780A 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ATCCCACATTCCTTACATACA 0.388000 49 59 0 0 0.000781405 0 0 NRXN2 9379 broad.mit.edu 37 11 64428249 64428249 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64428249A>T ENST00000265459.6 - 10 2622 c.2161T>A c.(2161-2163)Ttt>Att p.F721I NRXN2_ENST00000377551.1_Missense_Mutation_p.F721I|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Missense_Mutation_p.F714I|NRXN2_ENST00000377559.3_Missense_Mutation_p.F690I NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 721 EGF-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CGCCCAAGAAAGCCGGTCCCG 0.602000 13 50 0 0 0.000219431 0 0 MUC16 94025 broad.mit.edu 37 19 9086175 9086175 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9086175A>T ENST00000397910.4 - 1 5843 c.5640T>A c.(5638-5640)gaT>gaA p.D1880E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1880 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGAAGAGGTATCAGAGCCGT 0.502000 22 12 0 0 0.000375601 0 0 KEL 3792 broad.mit.edu 37 7 142640645 142640645 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:142640645G>A ENST00000355265.2 - 15 2105 c.1631C>T c.(1630-1632)tCg>tTg p.S544L NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 544 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GTCAGATACCGAATAGTAAGC 0.557000 89 26 0 0 0.000781405 0 0 HERC2P9 440248 broad.mit.edu 37 15 28903845 28903845 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:28903845C>T ENST00000528584.1 + 0 609 NR_036443.1 CGCTGTTCTCCCACCAGGATA 0.498000 43 32 0 0 0.000781405 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628498 51628498 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51628498C>T ENST00000440804.3 + 1 334 c.267C>T c.(265-267)gaC>gaT p.D89D SIGLEC9_ENST00000250360.3_Silent_p.D89D NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 89 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AGACTCGGGACCGATTCCACC 0.552000 21 99 0 0 0.00229938 0 0 RNASEL 6041 broad.mit.edu 37 1 182544549 182544549 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:182544549C>T ENST00000367559.3 - 7 2457 c.2204G>A c.(2203-2205)gGg>gAg p.G735E RNASEL_ENST00000444138.1_Missense_Mutation_p.G735E NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 735 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 GCTGGCCAACCCACTGGCCCC 0.483000 26 86 0 0 0.00209593 0 0 RBM47 54502 broad.mit.edu 37 4 40440446 40440446 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:40440446G>A ENST00000319592.4 - 4 1174 c.465C>T c.(463-465)atC>atT p.I155I RBM47_ENST00000514014.1_Silent_p.I117I|RBM47_ENST00000381795.6_Silent_p.I155I|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.I155I|RBM47_ENST00000381793.2_Silent_p.I155I A0AV96 RBM47_HUMAN RNA binding motif protein 47 155 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 GGATCCCGCCGATGAAGAGGC 0.652000 28 26 0 0 0.00127121 0 0 COL13A1 1305 broad.mit.edu 37 10 71707091 71707091 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:71707091G>A ENST00000356340.3 + 36 2554 c.2018G>A c.(2017-2019)gGa>gAa p.G673E COL13A1_ENST00000398966.3_Missense_Mutation_p.G651E|COL13A1_ENST00000398972.3_Missense_Mutation_p.G659E|COL13A1_ENST00000398971.3_Missense_Mutation_p.G658E|COL13A1_ENST00000398968.3_Missense_Mutation_p.G654E|COL13A1_ENST00000517713.1_Missense_Mutation_p.G624E|COL13A1_ENST00000398974.3_Missense_Mutation_p.G661E|COL13A1_ENST00000520133.1_Missense_Mutation_p.G595E|COL13A1_ENST00000398978.3_Missense_Mutation_p.G673E|COL13A1_ENST00000520267.1_Missense_Mutation_p.G601E|COL13A1_ENST00000357811.3_Missense_Mutation_p.G639E|COL13A1_ENST00000354547.3_Missense_Mutation_p.G651E|COL13A1_ENST00000398964.3_Missense_Mutation_p.G644E|COL13A1_ENST00000398969.3_Missense_Mutation_p.G601E|COL13A1_ENST00000522165.1_Missense_Mutation_p.G642E|COL13A1_ENST00000398973.3_Missense_Mutation_p.G647E Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 673 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GGGGACAAGGGAAACCGGGTG 0.517000 13 2 0 0 0.000422831 0 0 FGFR4 2264 broad.mit.edu 37 5 176524556 176524556 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176524556C>G ENST00000292408.4 + 18 2533 c.2288C>G c.(2287-2289)cCc>cGc p.P763R FGFR4_ENST00000393637.1_Missense_Mutation_p.P723R|FGFR4_ENST00000393648.2_Missense_Mutation_p.P695R|FGFR4_ENST00000502906.1_Missense_Mutation_p.P763R|FGFR4_ENST00000292410.3_Missense_Mutation_p.P723R NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 763 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) ACCTTCGGACCCTATTCCCCC 0.667000 TSP Lung(9;0.080) 14 32 0 0 0.000219431 0 0 NMUR1 10316 broad.mit.edu 37 2 232393679 232393679 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:232393679C>T ENST00000305141.4 - 2 186 c.53G>A c.(52-54)gGg>gAg p.G18E NM_006056.4 NP_006047.3 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 18 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1) 24 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CCTTGCACCCCCTGGGTACAG 0.572000 18 22 0 0 0.00152264 0 0 PDE1A 5136 broad.mit.edu 37 2 183095838 183095838 + Silent SNP G G A rs142773553 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:183095838G>A ENST00000435564.1 - 5 686 c.486C>T c.(484-486)ttC>ttT p.F162F PDE1A_ENST00000351439.5_Silent_p.F146F|PDE1A_ENST00000358139.2_Silent_p.F162F|PDE1A_ENST00000346717.4_Silent_p.F128F|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Silent_p.F162F|PDE1A_ENST00000409365.1_Silent_p.F146F|PDE1A_ENST00000331935.6_Silent_p.F162F|PDE1A_ENST00000456212.1_Silent_p.F162F|PDE1A_ENST00000536095.1_Silent_p.F58F NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 162 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CAAATACATCGAAAGACCATT 0.328000 58 84 0 0 0.000781405 0 0 FBXO7 25793 broad.mit.edu 37 22 32894166 32894166 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:32894166C>T ENST00000266087.7 + 9 1545 c.1218C>T c.(1216-1218)tcC>tcT p.S406S FBXO7_ENST00000382058.3_Silent_p.S327S|FBXO7_ENST00000397426.1_Silent_p.S292S NM_012179.3 NP_036311.3 Q9Y3I1 FBX7_HUMAN F-box protein 7 406 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GAAAAGAATCCCCGAAAGGGC 0.453000 31 130 0 0 0.000491102 0 0 TPTE2 93492 broad.mit.edu 37 13 20025334 20025334 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:20025334C>T ENST00000400230.2 - 11 817 c.773G>A c.(772-774)cGa>cAa p.R258Q TPTE2_ENST00000255310.6_Missense_Mutation_p.R181Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R147Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R218Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R258Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R181Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R147Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R218Q Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 258 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R181Q(2) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATAGTGGTTTCGATGTTTCTT 0.363000 25 22 0 0 0.001512 0 0 NUTM1 256646 broad.mit.edu 37 15 34640841 34640841 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34640841C>T ENST00000537011.1 + 3 1154 c.772C>T c.(772-774)Cag>Tag p.Q258* NUTM1_ENST00000438749.3_Nonsense_Mutation_p.Q248*|NUTM1_ENST00000333756.4_Nonsense_Mutation_p.Q230* NUT midline carcinoma, family member 1 GCACCTATCCCAGAGTCCTGA 0.483000 41 51 0 0 0.000680045 0 0 SHC3 53358 broad.mit.edu 37 9 91666967 91666967 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:91666967G>A ENST00000375835.4 - 7 1253 c.947C>T c.(946-948)cCc>cTc p.P316L SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 316 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 ATGGAGAGCGGGAATCTTGGT 0.488000 51 8 0 0 0.000781405 0 0 CPB1 1360 broad.mit.edu 37 3 148559645 148559645 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:148559645C>T ENST00000491148.1 + 7 844 c.510C>T c.(508-510)ttC>ttT p.F170F CPB1_ENST00000282957.4_Silent_p.F170F P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 170 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTGCCATTTTCATGGACTGTG 0.438000 75 78 0 0 0.000781405 0 0 OBSCN 84033 broad.mit.edu 37 1 228471227 228471227 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228471227G>A ENST00000570156.2 + 38 10122 c.10048G>A c.(10048-10050)Gag>Aag p.E3350K OBSCN_ENST00000284548.11_Missense_Mutation_p.E2921K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E1768K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E2921K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E40K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E40K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2384 Ig-like 33. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTTCACAGAGGAGCTGACCAA 0.612000 27 17 0 0 0.000491102 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325570 150325570 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:150325570C>T ENST00000328902.5 - 3 332 c.116G>A c.(115-117)aGg>aAg p.R39K GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 39 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCAGTCTCCTTGGGGTCTT 0.517000 69 28 0 0 0.000781405 0 0 TENM4 26011 broad.mit.edu 37 11 78399209 78399209 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:78399209C>T ENST00000278550.7 - 29 5612 c.5150G>A c.(5149-5151)cGa>cAa p.R1717Q NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGTATCACTTCGGAAACTGCT 0.517000 47 108 0 0 0.000781405 0 0 TRPM5 29850 broad.mit.edu 37 11 2436006 2436006 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:2436006C>T ENST00000452833.1 - 11 1697 c.1689G>A c.(1687-1689)ctG>ctA p.L563L TRPM5_ENST00000528453.1_Silent_p.L561L|TRPM5_ENST00000155858.6_Silent_p.L561L|TRPM5_ENST00000533060.1_Silent_p.L561L Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 561 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCTCCGTCTCCAGGTGCGACA 0.721000 44 77 0 0 0.000781405 0 0 OR4X2 119764 broad.mit.edu 37 11 48266696 48266696 + Missense_Mutation SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48266696A>C ENST00000302329.3 + 1 89 c.41A>C c.(40-42)gAg>gCg p.E14A NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CCCAACCAGGAGGTGCAGAGG 0.448000 17 55 0 0 0.000958276 0 0 GRM4 2914 broad.mit.edu 37 6 34101012 34101012 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:34101012G>A ENST00000374181.3 - 1 431 c.262C>T c.(262-264)Cgc>Tgc p.R88C GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.R88C NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 88 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TTGTTGATGCGATCCAGGGCG 0.632000 28 27 0 0 0.0024448 0 0 HEPH 9843 broad.mit.edu 37 X 65486392 65486392 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:65486392C>T ENST00000519389.1 + 21 3696 c.3517C>T c.(3517-3519)Ctt>Ttt p.L1173F HEPH_ENST00000441993.2_Missense_Mutation_p.L1121F|HEPH_ENST00000336279.5_Missense_Mutation_p.L852F|HEPH_ENST00000374727.3_Missense_Mutation_p.L1122F|HEPH_ENST00000419594.1_Missense_Mutation_p.L930F|HEPH_ENST00000343002.2_Missense_Mutation_p.L1119F Q9BQS7 HEPH_HUMAN hephaestin 1119 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TAGTGTCACCCTTCTGCTCGT 0.488000 35 1 0 0 0.000953801 0 0 ITGB7 3695 broad.mit.edu 37 12 53594063 53594063 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:53594063G>A ENST00000267082.5 - 3 396 c.165C>T c.(163-165)atC>atT p.I55I ITGB7_ENST00000422257.3_Silent_p.I55I|ITGB7_ENST00000338737.4_Silent_p.I55I|ITGB7_ENST00000550743.2_Silent_p.I55I NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 55 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGTGTGAGAGGATGCACTTCT 0.542000 12 57 0 0 0.000978159 0 0 FRG1B 284802 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 6 120 0 0 0.00198382 0 0 EFTUD2 9343 broad.mit.edu 37 17 42962668 42962668 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:42962668G>A ENST00000426333.2 - 4 603 c.306C>T c.(304-306)ttC>ttT p.F102F EFTUD2_ENST00000592576.1_Silent_p.F102F|EFTUD2_ENST00000402521.3_Silent_p.F67F|EFTUD2_ENST00000591382.1_Silent_p.F102F NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 102 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CCATCAGAGTGAATTTCTTGG 0.383000 63 140 0 0 0.000781405 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100000181 100000181 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100000181G>A ENST00000398027.2 - 16 1676 c.1429C>T c.(1429-1431)Cgt>Tgt p.R477C ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R357C|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R357C NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 477 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACTCGCTTACGAATGGGCAAA 0.433000 96 430 0 0 0.000781405 0 0 COL6A3 1293 broad.mit.edu 37 2 238275834 238275834 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:238275834C>T ENST00000295550.4 - 11 5448 c.4996G>A c.(4996-4998)Gtg>Atg p.V1666M COL6A3_ENST00000472056.1_Missense_Mutation_p.V1059M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1460M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1465M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1460M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1466M NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1666 Nonhelical region.|VWFA 9. 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) ACTGTGTCCACTATTTCAGAC 0.463000 9 26 0 0 0.000673444 0 0 PAPPA2 60676 broad.mit.edu 37 1 176762724 176762724 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176762724C>T ENST00000367662.3 + 20 6213 c.5049C>T c.(5047-5049)atC>atT p.I1683I NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGTGTAATCCCCCCCAGTG 0.468000 41 31 0 0 0.000680045 0 0 LRFN3 79414 broad.mit.edu 37 19 36431365 36431365 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36431365C>T ENST00000588831.1 + 3 2092 c.1038C>T c.(1036-1038)ttC>ttT p.F346F LRFN3_ENST00000246529.3_Silent_p.F346F Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 346 Ig-like. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCCGCGCCTTCCCCAATGGGA 0.692000 10 9 0 0 0.00136819 0 0 CCM2L 140706 broad.mit.edu 37 20 30617631 30617631 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:30617631C>T ENST00000300415.8 + 9 1405 c.1392C>T c.(1390-1392)ttC>ttT p.F464F CCM2L_ENST00000262659.8_3'UTR|RP1-310O13.7_ENST00000449519.1_RNA cerebral cavernous malformation 2-like GGCGCAAGTTCCTCCTCCTTG 0.622000 15 18 0 0 0.000308642 0 0 PRB3 5544 broad.mit.edu 37 12 11420704 11420704 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:11420704C>T ENST00000381842.3 - 0 516 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTCTGGCTTTCCCGGACGAGG 0.642000 63 43 0 0 0.000781405 0 0 EPX 8288 broad.mit.edu 37 17 56272453 56272453 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56272453C>T ENST00000225371.5 + 6 833 c.723C>T c.(721-723)tcC>tcT p.S241S NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 241 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CCCCGGAGTCCCCGGCCAGAG 0.617000 23 45 0 0 0.000720815 0 0 LRP1B 53353 broad.mit.edu 37 2 141709478 141709478 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:141709478G>A ENST00000389484.3 - 19 3890 c.2919C>T c.(2917-2919)ttC>ttT p.F973F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 973 LDL-receptor class A 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTGCATACGAATTGGGTTA 0.418000 TSP Lung(27;0.18) 22 40 0 0 0.00047179 0 0 DNAH5 1767 broad.mit.edu 37 5 13781030 13781030 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:13781030G>A ENST00000265104.4 - 53 8963 c.8859C>T c.(8857-8859)ctC>ctT p.L2953L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2953 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCCGACCAGGAGGGCATTTC 0.458000 Kartagener syndrome 22 5 0 0 0.000720815 0 0 SMPD4 55627 broad.mit.edu 37 2 130911935 130911935 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:130911935G>A ENST00000409031.1 - 16 2839 c.1691C>T c.(1690-1692)tCc>tTc p.S564F SMPD4_ENST00000351288.6_Missense_Mutation_p.S535F|SMPD4_ENST00000443958.2_Missense_Mutation_p.S228F|SMPD4_ENST00000339679.7_Missense_Mutation_p.S422F|SMPD4_ENST00000453750.1_Missense_Mutation_p.S313F|SMPD4_ENST00000431183.2_Missense_Mutation_p.S462F|SMPD4_ENST00000452225.2_Missense_Mutation_p.S305F|SMPD4_ENST00000426662.2_Missense_Mutation_p.S200F NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 525 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) CACCTTGAAGGAGGCATCAGT 0.647000 9 12 0 0 0.000978159 0 0 EEFSEC 60678 broad.mit.edu 37 3 127980974 127980974 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:127980974C>T ENST00000254730.6 + 3 582 c.528C>T c.(526-528)ttC>ttT p.F176F EEFSEC_ENST00000483457.1_Silent_p.F176F NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 176 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 ATTTCAGGTTCCGAGGTGCAC 0.542000 63 95 0 0 0.000781405 0 0 FAT4 79633 broad.mit.edu 37 4 126402778 126402778 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:126402778G>A ENST00000394329.3 + 15 12714 c.12701G>A c.(12700-12702)cGa>cAa p.R4234Q FAT4_ENST00000335110.5_Missense_Mutation_p.R2475Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4234 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAAAGCTTACGAGGTGCCATG 0.443000 23 35 0 0 0.000375601 0 0 ECT2L 345930 broad.mit.edu 37 6 139186242 139186242 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:139186242C>T ENST00000423192.1 + 11 1562 c.1401C>T c.(1399-1401)acC>acT p.T467T ECT2L_ENST00000367682.2_Silent_p.T467T|ECT2L_ENST00000541398.1_Silent_p.T398T|ECT2L_ENST00000495970.1_3'UTR Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 467 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TAGAAGAAACCTTGAAAACAG 0.483000 """N, Splice, Mis""" ETP ALL 31 7 0 0 0.00178596 0 0 OR4P4 81300 broad.mit.edu 37 11 55406571 55406571 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:55406571C>T ENST00000314612.2 + 1 738 c.738C>T c.(736-738)gtC>gtT p.V246V NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TTGTTGTGGTCCTGTTTTTTG 0.388000 47 75 0 0 0.000781405 0 0 GIGYF1 64599 broad.mit.edu 37 7 100283657 100283657 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100283657G>A ENST00000275732.5 - 9 2203 c.994C>T c.(994-996)Caa>Taa p.Q332* GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 332 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCCAACCCTTGGAAGTCCAGC 0.687000 10 45 0 0 0.000219431 0 0 KALRN 8997 broad.mit.edu 37 3 124416491 124416491 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:124416491C>T ENST00000360013.3 + 55 7878 c.7751C>T c.(7750-7752)tCc>tTc p.S2584F KALRN_ENST00000291478.4_Missense_Mutation_p.S887F|KALRN_ENST00000428018.2_Missense_Mutation_p.S855F NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2583 Fibronectin type-III. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGCTGCACCTCCGTGATTCTC 0.542000 7 12 0 0 0.000442599 0 0 NCOR1 9611 broad.mit.edu 37 17 16062165 16062165 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:16062165G>A ENST00000268712.3 - 6 898 c.641C>T c.(640-642)gCt>gTt p.A214V NCOR1_ENST00000395851.1_Missense_Mutation_p.A214V|NCOR1_ENST00000395848.1_Missense_Mutation_p.A105V NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 214 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGGAGGTTTAGCTGCCTCTTC 0.483000 27 5 0 0 0.000878237 0 0 NPTX2 4885 broad.mit.edu 37 7 98249027 98249027 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:98249027G>A ENST00000265634.3 + 2 664 c.499G>A c.(499-501)Ggg>Agg p.G167R NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 167 synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCAGCGGCTGGGGGAGCTGGA 0.657000 40 74 0 0 0.00170553 0 0 OR2F1 26211 broad.mit.edu 37 7 143657981 143657981 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143657981G>A ENST00000392899.1 + 1 955 c.918G>A c.(916-918)tgG>tgA p.W306* NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W306C(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AACTATTATGGAAATTCTCTG 0.433000 61 20 0 0 0.000781405 0 0 TIGD5 84948 broad.mit.edu 37 8 144681846 144681846 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:144681846C>T ENST00000504548.2 + 1 1773 c.1773C>T c.(1771-1773)gcC>gcT p.A591A TIGD5_ENST00000321385.3_Silent_p.A542A NM_032862.4 NP_116251.4 E7EWS2 E7EWS2_HUMAN tigger transposable element derived 5 591 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CCGGGGAGGCCGTGCGGGGGC 0.682000 18 12 0 0 0.00152264 0 0 SNRNP48 154007 broad.mit.edu 37 6 7595265 7595265 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:7595265G>A ENST00000342415.5 + 4 396 c.337G>A c.(337-339)Gac>Aac p.D113N NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 113 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GACAGATAAGGACTCACAATT 0.323000 9 58 0 0 0.000673444 0 0 MAP4K2 5871 broad.mit.edu 37 11 64568600 64568600 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64568600G>A ENST00000294066.2 - 8 604 c.513C>T c.(511-513)ttC>ttT p.F171F MAP4K2_ENST00000377350.3_Silent_p.F171F|MAP4K2_ENST00000468062.1_5'UTR NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 171 Protein kinase. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 GAGTCCCAATGAAAGACCTCC 0.637000 29 16 0 0 0.00178596 0 0 PLXDC1 57125 broad.mit.edu 37 17 37234198 37234198 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:37234198G>A ENST00000315392.4 - 11 1365 c.1154C>T c.(1153-1155)tCc>tTc p.S385F PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.S345F|CTD-2206N4.4_ENST00000583447.1_RNA NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 385 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GAAGAGGGAGGAGGAGGTAGT 0.607000 43 5 0 0 0.000781405 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892007 2892007 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:2892007G>A ENST00000254528.3 + 4 2041 c.1882G>A c.(1882-1884)Gaa>Aaa p.E628K NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 628 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding p.E628K(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) TCTTCAAAAGGAAATGAGCAA 0.438000 21 7 0 0 0.00106085 0 0 MIR1205 100302161 broad.mit.edu 37 8 128972912 128972912 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:128972912C>T ENST00000408844.1 + 0 34 NR_031610.1 TGAGGTACTTCCTTCCTGTCA 0.438000 20 62 0 0 0.00152264 0 0 ITGA4 3676 broad.mit.edu 37 2 182392056 182392056 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:182392056C>T ENST00000397033.2 + 22 2802 c.2372C>T c.(2371-2373)tCa>tTa p.S791L NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 791 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GTGTATGGATCAAATGATGAA 0.294000 21 24 0 0 0.000720815 0 0 SLC9B1 150159 broad.mit.edu 37 4 103866440 103866440 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:103866440G>A ENST00000296422.7 - 6 704 c.563C>T c.(562-564)gCt>gTt p.A188V SLC9B1_ENST00000394789.3_Missense_Mutation_p.A188V NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 188 integral to membrane solute:hydrogen antiporter activity TGGACCTACAGCCAATCTGAA 0.383000 32 64 0 0 0.00128727 0 0 ABCC10 89845 broad.mit.edu 37 6 43412958 43412958 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43412958C>T ENST00000244533.3 + 12 3211 c.2852C>T c.(2851-2853)tCc>tTc p.S951F ABCC10_ENST00000372530.4_Missense_Mutation_p.S979F NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 979 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGTGTAAATTCCCTCTGCACC 0.587000 33 43 0 0 0.000814825 0 0 PLAUR 5329 broad.mit.edu 37 19 44160716 44160716 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44160716C>A ENST00000221264.4 - 4 813 c.387G>T c.(385-387)agG>agT p.R129S PLAUR_ENST00000340093.3_Missense_Mutation_p.R129S|PLAUR_ENST00000601723.1_Missense_Mutation_p.R129S|PLAUR_ENST00000339082.3_Missense_Mutation_p.R129S NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 129 UPAR/Ly6 2. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GGTGCCGGCCCCTCTCACAGC 0.602000 19 34 9.7654e-05 0.000464029 0.000958276 1 0 ACSS3 79611 broad.mit.edu 37 12 81472131 81472131 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:81472131G>A ENST00000548058.1 + 1 1142 c.232G>A c.(232-234)Ggc>Agc p.G78S ACSS3_ENST00000261206.3_Missense_Mutation_p.G78S Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 78 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GAGGTTCTGGGGCAAAGCTGC 0.627000 13 27 0 0 0.00185496 0 0 IFNAR2 3455 broad.mit.edu 37 21 34635633 34635633 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:34635633C>A ENST00000342136.4 + 9 1702 c.1376C>A c.(1375-1377)cCa>cAa p.P459Q IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.P459Q P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 459 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) ATGGTTGACCCAGAGGATCCT 0.512000 9 300 3.86212e-05 0.000183823 0.000673444 1 0 ZNF785 146540 broad.mit.edu 37 16 30594027 30594027 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:30594027G>A ENST00000395216.2 - 3 1231 c.1072C>T c.(1072-1074)Cat>Tat p.H358Y ZNF785_ENST00000470110.1_Missense_Mutation_p.H343Y|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 ATCCACCGATGGGCTTCCAGG 0.667000 62 32 0 0 0.000781405 0 0 CD163 9332 broad.mit.edu 37 12 7632488 7632488 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7632488C>T ENST00000359156.4 - 16 3650 c.3448G>A c.(3448-3450)Gaa>Aaa p.E1150K CD163_ENST00000541972.1_Silent_p.*1110*|CD163_ENST00000432237.2_Silent_p.*1122*|CD163_ENST00000396620.3_Silent_p.*1155* NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1150 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTTTCCTTTTCAGTGTGGCTC 0.398000 34 23 0 0 0.000692331 0 0 C3 718 broad.mit.edu 37 19 6707815 6707815 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:6707815C>T ENST00000245907.6 - 15 2063 c.1971G>A c.(1969-1971)agG>agA p.R657R NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 657 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding p.R657S(1) breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCTCACCTGCCCTCTGGGCGG 0.667000 56 37 0 0 0.000781405 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668500 176668500 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176668500A>T ENST00000367662.3 + 8 4175 c.3011A>T c.(3010-3012)gAc>gTc p.D1004V NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1004 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ACTTTCTGTGACATCCCACTC 0.507000 37 104 0 0 0.000814825 0 0 JAG2 3714 broad.mit.edu 37 14 105615329 105615329 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:105615329C>T ENST00000331782.3 - 14 2254 c.1851G>A c.(1849-1851)ggG>ggA p.G617G JAG2_ENST00000347004.2_Silent_p.G579G NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 617 EGF-like 10; atypical. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) AAAAGTTGCCCCCTGGCTGGC 0.662000 5 17 0 0 0.00116845 0 0 IL2RB 3560 broad.mit.edu 37 22 37532325 37532325 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37532325C>T ENST00000216223.5 - 7 844 c.646G>A c.(646-648)Gag>Aag p.E216K NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 216 Fibronectin type-III. interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GTCGTGAACTCGCCTTGCAGA 0.627000 15 14 0 0 0.000219431 0 0 MRPS18A 55168 broad.mit.edu 37 6 43639616 43639616 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43639616G>A ENST00000372133.3 - 6 485 c.474C>T c.(472-474)tcC>tcT p.S158S MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR|RSPH9_ENST00000372165.4_3'UTR NM_018135.3 NP_060605.1 Q9NVS2 RT18A_HUMAN mitochondrial ribosomal protein S18A 158 translation mitochondrial small ribosomal subunit structural constituent of ribosome kidney(3)|large_intestine(1) 4 all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137) TGGGCTTGACGGAGCCAGGAG 0.612000 12 15 0 0 0.00136819 0 0 SPACA7 122258 broad.mit.edu 37 13 113030790 113030790 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:113030790C>T ENST00000283550.3 + 1 158 c.91C>T c.(91-93)Cca>Tca p.P31S NM_145248.4 NP_660291.2 Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 31 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 AACCGTGATTCCAGGTAGGGC 0.587000 8 8 0 0 0.000274275 0 0 LAMB1 3912 broad.mit.edu 37 7 107601006 107601006 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:107601006G>A ENST00000393561.1 - 16 2454 c.2270C>T c.(2269-2271)aCc>aTc p.T757I LAMB1_ENST00000393560.1_Missense_Mutation_p.T733I|LAMB1_ENST00000222399.6_Missense_Mutation_p.T733I P07942 LAMB1_HUMAN laminin, beta 1 733 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCTGAAAGGTTTCCCAGGC 0.458000 35 88 0 0 0.000814825 0 0 IL31RA 133396 broad.mit.edu 37 5 55212752 55212752 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:55212752C>T ENST00000447346.2 + 15 2164 c.2099C>T c.(2098-2100)tCc>tTc p.S700F IL31RA_ENST00000490985.1_Missense_Mutation_p.S558F|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron NM_001242636.1|NM_139017.5 NP_001229565.1|NP_620586.3 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 668 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CCCAGAAAATCCCAATACCTA 0.512000 41 60 0 0 0.00148497 0 0 IPO7 10527 broad.mit.edu 37 11 9459706 9459706 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:9459706G>A ENST00000379719.3 + 22 2711 c.2569G>A c.(2569-2571)Gtt>Att p.V857I NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 857 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTTAAATCAGGTTTCTGGACA 0.363000 67 73 0 0 0.000781405 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 4 72 0 0 0.000602214 0 0 COL5A2 1290 broad.mit.edu 37 2 189931166 189931166 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:189931166G>A ENST00000374866.3 - 23 1787 c.1513C>T c.(1513-1515)Ccc>Tcc p.P505S NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 505 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCACCTCTGGGACCTCTTTTG 0.483000 120 112 0 0 0.000781405 0 0 HEXA 3073 broad.mit.edu 37 15 72643516 72643516 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:72643516G>A ENST00000268097.5 - 6 1133 c.630C>T c.(628-630)tcC>tcT p.S210S RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Silent_p.S18S|HEXA_ENST00000566304.1_Silent_p.S221S|HEXA_ENST00000429918.2_Silent_p.S37S|HEXA_ENST00000567159.1_Silent_p.S210S|RP11-106M3.2_ENST00000379915.4_RNA NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 210 S -> F (in GM2G1; infantile). cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 CATATGGGAAGGAAGGATCAT 0.453000 32 38 0 0 0.00058488 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142264942 142264942 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:142264942A>T ENST00000378004.3 + 5 819 c.464A>T c.(463-465)aAg>aTg p.K155M ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K155M NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 155 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTTCCAAAAAGAAAGAATCT 0.358000 18 42 0 0 0.00121646 0 0 NLRP7 199713 broad.mit.edu 37 19 55451413 55451413 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55451413C>T ENST00000446217.1 - 6 1260 c.858G>A c.(856-858)ctG>ctA p.L286L NLRP7_ENST00000328092.5_Silent_p.L258L|NLRP7_ENST00000448121.2_Silent_p.L258L|NLRP7_ENST00000592784.1_Silent_p.L258L|NLRP7_ENST00000590030.1_Silent_p.L258L|NLRP7_ENST00000588756.1_Silent_p.L258L|NLRP7_ENST00000340844.2_Silent_p.L258L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 258 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GTGGGACTTTCAGCTCATCAA 0.557000 25 143 0 0 0.000586117 0 0 UNC79 57578 broad.mit.edu 37 14 94152932 94152932 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:94152932G>A ENST00000553484.1 + 45 7171 c.7017G>A c.(7015-7017)gcG>gcA p.A2339A UNC79_ENST00000555664.1_Silent_p.A2278A|UNC79_ENST00000256339.4_Silent_p.A2140A|UNC79_ENST00000393151.2_Silent_p.A2317A Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2317 integral to membrane p.A2339A(1)|p.A2140A(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGACTGCAGCGATGGAGTGTG 0.507000 15 34 0 0 0.000422831 0 0 NBEA 26960 broad.mit.edu 37 13 35619500 35619500 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:35619500C>T ENST00000540320.1 + 4 1219 c.685C>T c.(685-687)Cct>Tct p.P229S NBEA_ENST00000400445.3_Missense_Mutation_p.P229S|NBEA_ENST00000310336.4_Missense_Mutation_p.P229S|NBEA_ENST00000379939.2_Missense_Mutation_p.P229S Q8NFP9 NBEA_HUMAN neurobeachin 229 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GAGACACGGTCCTGATACTTT 0.333000 18 11 0 0 0.00188189 0 0 SGK223 157285 broad.mit.edu 37 8 8176519 8176519 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:8176519G>A ENST00000520004.1 - 6 3630 c.3366C>T c.(3364-3366)ttC>ttT p.F1122F SGK223_ENST00000330777.4_Silent_p.F1122F Q86YV5 SG223_HUMAN 1122 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity GCAGAAGCAGGAAGCACACGC 0.672000 78 62 0 0 0.000781405 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033498 95033498 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:95033498C>T ENST00000557004.1 + 3 1262 c.841C>T c.(841-843)Cct>Tct p.P281S SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.P281S|SERPINA4_ENST00000555095.1_Missense_Mutation_p.P281S P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 281 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) TTTCATTCTCCCTAACCAAGG 0.483000 18 27 0 0 0.000958276 0 0 C5orf38 153571 broad.mit.edu 37 5 2755284 2755284 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:2755284G>A ENST00000397835.4 + 3 475 c.475G>A c.(475-477)Ggg>Agg p.G159R C5orf38_ENST00000334000.3_3'UTR Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 45 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GAGAAggccggggcgctcgcc 0.791000 8 9 0 0 0.000157383 0 0 SPTA1 6708 broad.mit.edu 37 1 158641235 158641235 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158641235C>T ENST00000368148.3 - 12 1677 c.1497G>A c.(1495-1497)ctG>ctA p.L499L SPTA1_ENST00000368147.3_Silent_p.L499L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 499 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTCGTTTTCCAGGAAGGCCT 0.488000 11 26 0 0 0.000219431 0 0 SCN4A 6329 broad.mit.edu 37 17 62018802 62018802 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:62018802C>T ENST00000435607.1 - 24 4916 c.4840G>A c.(4840-4842)Gaa>Aaa p.E1614K SCN4A_ENST00000578147.1_Missense_Mutation_p.E1614K NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1614 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) AAGTCATCTTCACCAAGGGGC 0.532000 29 21 0 0 0.00106085 0 0 IQSEC1 9922 broad.mit.edu 37 3 12977612 12977612 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:12977612G>A ENST00000273221.4 - 3 1162 c.946C>T c.(946-948)Ctg>Ttg p.L316L NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 316 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GAGAGGGGCAGAGGGGGCGAC 0.677000 48 35 0 0 0.000781405 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764907 77764907 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:77764907G>A ENST00000521891.2 + 10 6198 c.5750G>A c.(5749-5751)gGt>gAt p.G1917D ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1872D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1891D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1872D NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1872 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAAACTTTGGTTTTGAACTG 0.448000 HNSCC(33;0.089) 15 16 0 0 0.000219431 0 0 LRRC43 254050 broad.mit.edu 37 12 122669284 122669284 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:122669284C>T ENST00000339777.4 + 2 397 c.369C>T c.(367-369)ttC>ttT p.F123F LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 123 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CAGACACCTTCTTCTACTCCT 0.572000 6 12 0 0 0.00116845 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65715116 65715116 + RNA SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65715116A>T ENST00000532620.1 + 0 1051 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 TTGTCAGAGAAAGGGGCAGAT 0.597000 15 9 0 0 0.000308642 0 0 TMEM131 23505 broad.mit.edu 37 2 98409346 98409346 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:98409346G>A ENST00000186436.5 - 31 3875 c.3647C>T c.(3646-3648)cCa>cTa p.P1216L NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1216 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GTGGACCGATGGGCCACACTG 0.542000 12 21 0 0 0.000978159 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55027470 55027470 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:55027470G>A ENST00000324000.3 + 4 3139 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 369 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) AATGCATGGGGAAGGGCTCAC 0.473000 12 24 0 0 0.000219431 0 0 LOC645752 645752 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 4 82 0 0 0.000602214 0 0 TAP2 6891 broad.mit.edu 37 6 32805777 32805777 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32805777G>A ENST00000374897.2 - 2 365 c.234C>T c.(232-234)tcC>tcT p.S78S TAP2_ENST00000452392.2_Silent_p.S78S|TAP2_ENST00000374899.4_Silent_p.S78S NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 78 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding GGGCTCTCAGGGAGACAGTCA 0.687000 22 32 0 0 0.00047179 0 0 NLRP3 114548 broad.mit.edu 37 1 247597405 247597405 + Splice_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247597405G>A ENST00000366497.2 + 6 3108 c.2327_splice c.e6-1 p.W776_splice NLRP3_ENST00000336119.3_Splice_Site_p.W776_splice|NLRP3_ENST00000348069.2_Splice_Site_p.G719_splice|NLRP3_ENST00000391827.2_Splice_Site_p.G719_splice|NLRP3_ENST00000391828.3_Splice_Site_p.W776_splice|NLRP3_ENST00000366496.2_Splice_Site_p.W776_splice NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 833 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGGCATGAAGGTTGGGGCGCT 0.572000 113 55 0 0 0.000781405 0 0 DNASE2 1777 broad.mit.edu 37 19 12989369 12989369 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:12989369G>A ENST00000222219.3 - 5 628 c.536C>T c.(535-537)cCc>cTc p.P179L DNASE2_ENST00000538460.1_Missense_Mutation_p.P124L NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 179 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 ATAGACCCAGGGGTAGGTGTA 0.547000 17 15 0 0 0.00152264 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29974628 29974628 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29974628G>A ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA CCGGGCCGCGGGGAGCCCAGC 0.701000 3 8 0 0 0.00024832 0 0 C10orf90 118611 broad.mit.edu 37 10 128114454 128114454 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:128114454G>A ENST00000284694.7 - 9 2199 c.2079C>T c.(2077-2079)ctC>ctT p.L693L C10orf90_ENST00000356858.3_3'UTR|C10orf90_ENST00000480379.1_Silent_p.L97L|C10orf90_ENST00000544758.1_Silent_p.L790L|C10orf90_ENST00000454341.1_Silent_p.L596L NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 693 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TCCTTTGAAGGAGCTGGTCCA 0.502000 17 2 0 0 0.000958276 0 0 ZNF14 7561 broad.mit.edu 37 19 19823621 19823621 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:19823621G>A ENST00000344099.3 - 4 607 c.469C>T c.(469-471)Cgc>Tgc p.R157C NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TCATGTTTGCGAAAGCAGTGG 0.393000 17 42 0 0 0.000958276 0 0 KCNA5 3741 broad.mit.edu 37 12 5155065 5155065 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:5155065G>A ENST00000252321.3 + 1 1981 c.1752G>A c.(1750-1752)gaG>gaA p.E584E NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 584 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GCCCCCTAGAGAAGTGTAACG 0.597000 23 23 0 0 0.00047179 0 0 MYT1L 23040 broad.mit.edu 37 2 1906908 1906908 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1906908C>T ENST00000399161.2 - 14 2723 c.1976G>A c.(1975-1977)cGa>cAa p.R659Q MYT1L_ENST00000428368.2_Missense_Mutation_p.R657Q NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 659 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGCTATGGCTCGCTTGCCATA 0.488000 48 39 0 0 0.000781405 0 0 ZFHX3 463 broad.mit.edu 37 16 72828002 72828002 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72828002C>T ENST00000268489.5 - 9 9251 c.8579G>A c.(8578-8580)gGa>gAa p.G2860E ZFHX3_ENST00000397992.5_Missense_Mutation_p.G1946E NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2860 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGTTGCTATTCCCGTTGCACT 0.488000 38 96 0 0 0.00170553 0 0 HOXB8 3218 broad.mit.edu 37 17 46690746 46690746 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:46690746C>T ENST00000239144.4 - 2 784 c.550G>A c.(550-552)Gga>Aga p.G184R HOXB8_ENST00000576562.1_Missense_Mutation_p.G183R|HOXB7_ENST00000567101.1_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 184 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 TCTGTCAGTCCCAGGGCGTGC 0.512000 28 62 0 0 0.0024448 0 0 BACE1 23621 broad.mit.edu 37 11 117166040 117166040 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:117166040C>T ENST00000313005.6 - 3 834 c.374G>A c.(373-375)cGg>cAg p.R125Q BACE1_ENST00000392937.6_Missense_Mutation_p.R25Q|BACE1_ENST00000510630.1_Missense_Mutation_p.R25Q|BACE1_ENST00000445823.2_Missense_Mutation_p.R125Q|BACE1_ENST00000428381.2_Missense_Mutation_p.R125Q|BACE1_ENST00000528053.1_Missense_Mutation_p.R125Q|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Missense_Mutation_p.R125Q NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 125 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) CACACCCTTCCGGAGGTCCCG 0.557000 23 4 0 0 0.000586117 0 0 OPLAH 26873 broad.mit.edu 37 8 145109474 145109474 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145109474G>A ENST00000426825.1 - 19 2757 c.2676C>T c.(2674-2676)ttC>ttT p.F892F OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 892 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CCTCCTCCTGGAAGACGCCCC 0.647000 14 18 0 0 0.000219431 0 0 ITPRIP 85450 broad.mit.edu 37 10 106074292 106074292 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:106074292G>A ENST00000278071.2 - 3 1970 c.1518C>T c.(1516-1518)ttC>ttT p.F506F ITPRIP_ENST00000337478.1_Silent_p.F506F|ITPRIP_ENST00000358187.2_Silent_p.F506F NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 506 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 GCTGCAGGACGAAGGGCCGGA 0.587000 37 9 0 0 0.00148497 0 0 TMC5 79838 broad.mit.edu 37 16 19451763 19451763 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:19451763C>T ENST00000396229.2 + 3 1152 c.403C>T c.(403-405)Cct>Tct p.P135S TMC5_ENST00000542583.2_Missense_Mutation_p.P135S|TMC5_ENST00000381414.4_Missense_Mutation_p.P135S|TMC5_ENST00000541464.1_Missense_Mutation_p.P135S NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 135 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCAACGAAATCCTGATTTTGC 0.498000 128 80 0 0 0.000781405 0 0 RIMS2 9699 broad.mit.edu 37 8 105261730 105261730 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:105261730G>A ENST00000507740.1 + 20 3283 c.3047G>A c.(3046-3048)gGa>gAa p.G1016E RIMS2_ENST00000436393.2_Missense_Mutation_p.G1220E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1202E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G1041E|RIMS2_ENST00000339750.2_Missense_Mutation_p.G138E NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1264 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATTCAGGTAGGAATGATGGAC 0.418000 HNSCC(12;0.0054) 34 64 0 0 0.00058488 0 0 LIG1 3978 broad.mit.edu 37 19 48640929 48640929 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:48640929G>A ENST00000263274.7 - 13 1523 c.1104C>T c.(1102-1104)tcC>tcT p.S368S LIG1_ENST00000536218.1_Silent_p.S300S|LIG1_ENST00000427526.2_Silent_p.S337S NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 368 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CAGCCCGGACGGACTCCAGCT 0.662000 Nucleotide excision repair (NER) 4 15 0 0 0.00116845 0 0 JADE1 79960 broad.mit.edu 37 4 129783278 129783278 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:129783278C>T ENST00000226319.6 + 9 1681 c.1401C>T c.(1399-1401)atC>atT p.I467I PHF17_ENST00000511647.1_Silent_p.I467I|PHF17_ENST00000512960.1_Silent_p.I467I|PHF17_ENST00000413543.2_Silent_p.I467I|PHF17_ENST00000452328.2_Silent_p.I455I NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 467 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGCCCCTGATCACCCCAAAGA 0.532000 29 33 0 0 0.00127121 0 0 CDCP2 200008 broad.mit.edu 37 1 54618546 54618546 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:54618546C>T ENST00000371330.1 - 1 897 c.50G>A c.(49-51)gGc>gAc p.G17D RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 17 extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 GAGCCCTGGGCCCAGCAGTGC 0.652000 61 46 0 0 0.000781405 0 0 DUXA 503835 broad.mit.edu 37 19 57665801 57665801 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57665801G>A ENST00000554048.2 - 6 593 c.594C>T c.(592-594)ttC>ttT p.F198F NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 198 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TGGCTCCAGAGAAATGAGAGT 0.418000 16 47 0 0 0.00074312 0 0 BRD8 10902 broad.mit.edu 37 5 137481567 137481567 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:137481567C>T ENST00000254900.5 - 24 3650 c.3278_splice c.e24-1 p.L1093_splice NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1093 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTAGATCAGTCCTATGAGGAT 0.418000 41 33 0 0 0.00195071 0 0 SCD5 79966 broad.mit.edu 37 4 83602042 83602042 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:83602042C>T ENST00000319540.4 - 3 706 c.387G>A c.(385-387)agG>agA p.R129R SCD5_ENST00000273908.4_Silent_p.R129R NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 129 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) CTCGGTGGTCCCTGGACCACT 0.587000 35 44 0 0 0.000814825 0 0 RAB8A 4218 broad.mit.edu 37 19 16238862 16238862 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:16238862C>T ENST00000300935.3 + 6 714 c.441C>T c.(439-441)ttC>ttT p.F147F CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Silent_p.F147F NM_005370.4 NP_005361.2 P61006 RAB8A_HUMAN RAB8A, member RAS oncogene family 147 cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane GTP binding|protein binding endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 8 GAATCAAGTTCATGGAGACCA 0.597000 14 37 0 0 0.000308642 0 0 FMO3 2328 broad.mit.edu 37 1 171073016 171073016 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:171073016C>T ENST00000367755.4 + 3 334 c.223C>T c.(223-225)Ccc>Tcc p.P75S FMO3_ENST00000392085.2_Missense_Mutation_p.P75S|FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Missense_Mutation_p.P55S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 75 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCCCATTTCCCGATGACTT 0.423000 20 52 0 0 0.00188189 0 0 DDHD1 80821 broad.mit.edu 37 14 53521309 53521309 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:53521309A>G ENST00000357758.3 - 11 2467 c.2284T>C c.(2284-2286)Ttc>Ctc p.F762L DDHD1_ENST00000323669.5_Missense_Mutation_p.F762L|DDHD1_ENST00000395606.1_Missense_Mutation_p.F769L NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 762 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) AATCTTGAGAACAACATTCCT 0.443000 35 24 0 0 0.00111076 0 0 KIAA1147 57189 broad.mit.edu 37 7 141385329 141385329 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141385329G>A ENST00000536163.1 - 3 475 c.476C>T c.(475-477)cCc>cTc p.P159L KIAA1147_ENST00000482493.1_Missense_Mutation_p.P68L NM_001080392.1 NP_001073861.1 A4D1U4 LCHN_HUMAN KIAA1147 159 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) TGTGTAGGAGGGAGAGAGGAT 0.602000 23 145 0 0 0.000878237 0 0 CT62 196993 broad.mit.edu 37 15 71403623 71403623 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:71403623C>T ENST00000449977.2 - 4 784 c.278G>A c.(277-279)cGg>cAg p.R93Q RP11-673C5.4_ENST00000564862.1_RNA|CT62_ENST00000566432.1_3'UTR|THSD4_ENST00000355327.3_Intron NM_001102658.1 NP_001096128.1 P0C5K7 CT62_HUMAN cancer/testis antigen 62 93 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2) 6 CTTGACATTCCGTCTGGAAAC 0.493000 24 30 0 0 0.000586117 0 0 CYFIP2 26999 broad.mit.edu 37 5 156817610 156817610 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:156817610C>T ENST00000347377.6 + 30 3959 c.3528C>T c.(3526-3528)ttC>ttT p.F1176F CYFIP2_ENST00000521420.1_Silent_p.F1150F|CYFIP2_ENST00000435847.2_Silent_p.F875F|CYFIP2_ENST00000522463.1_Silent_p.F980F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000541131.1_Silent_p.F1101F|CYFIP2_ENST00000377576.3_Silent_p.F1176F|CYFIP2_ENST00000318218.6_Silent_p.F1201F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1201 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGACCTGTTCGACTTCTGTT 0.567000 109 220 0 0 0.000781405 0 0 FAM129C 199786 broad.mit.edu 37 19 17654161 17654161 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:17654161G>A ENST00000335393.4 + 12 1596 c.1458G>A c.(1456-1458)ctG>ctA p.L486L FAM129C_ENST00000599164.1_Silent_p.L455L|FAM129C_ENST00000601861.1_Silent_p.L455L|FAM129C_ENST00000600871.1_Silent_p.L432L|FAM129C_ENST00000300971.2_Silent_p.L486L|FAM129C_ENST00000332386.5_Silent_p.L486L|FAM129C_ENST00000599124.1_Silent_p.L455L|FAM129C_ENST00000352727.3_Silent_p.L486L|FAM129C_ENST00000595684.1_Silent_p.L486L|FAM129C_ENST00000449408.2_Silent_p.L212L NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 486 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 TCCTGCAGCTGGCTGACCAGT 0.642000 32 71 0 0 0.0024448 0 0 OR5B12 390191 broad.mit.edu 37 11 58206865 58206865 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:58206865T>A ENST00000302572.2 - 1 781 c.760A>T c.(760-762)Atc>Ttc p.I254F NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TACATAAAGATTCCTGTCCCA 0.453000 27 15 0 0 0.001512 0 0 SRRM4 84530 broad.mit.edu 37 12 119540140 119540140 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:119540140G>A ENST00000267260.4 + 2 619 c.231G>A c.(229-231)tgG>tgA p.W77* RP11-364C11.2_ENST00000537730.1_RNA NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 77 cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCAACAGTTGGGAGAGAGACA 0.552000 11 10 0 0 0.000673444 0 0 PABPC1 26986 broad.mit.edu 37 8 101733795 101733795 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:101733795G>A ENST00000318607.5 - 1 1145 c.17C>T c.(16-18)cCc>cTc p.P6L PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Missense_Mutation_p.P6L NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 6 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GGGGTAGCTGGGGGCACTGGG 0.711000 19 11 0 0 0.00188189 0 0 F8 2157 broad.mit.edu 37 X 154182201 154182201 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:154182201C>T ENST00000360256.4 - 12 2069 c.1869G>A c.(1867-1869)gaG>gaA p.E623E NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 623 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ACTCTGGATCCTCAAGCTGCA 0.438000 82 9 0 0 0.000781405 0 0 TPK1 27010 broad.mit.edu 37 7 144364881 144364881 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:144364881C>T ENST00000538212.2 - 3 178 c.108G>A c.(106-108)ccG>ccA p.P36P TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Intron Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 0 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) gggtgtctttcggtgtcctga 0.468000 69 32 0 0 0.000781405 0 0 VOPP1 81552 broad.mit.edu 37 7 55560112 55560112 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:55560112C>T ENST00000285279.5 - 4 392 c.e4-1 VOPP1_ENST00000545390.1_Splice_Site|VOPP1_ENST00000453256.1_Splice_Site|VOPP1_ENST00000427700.1_Splice_Site|VOPP1_ENST00000433959.1_Splice_Site|VOPP1_ENST00000454227.1_Splice_Site|VOPP1_ENST00000428097.1_Splice_Site|VOPP1_ENST00000428648.1_Splice_Site|VOPP1_ENST00000418904.1_Splice_Site NM_030796.3 NP_110423.3 Q96AW1 VOPP1_HUMAN vesicular, overexpressed in cancer, prosurvival protein 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic vesicle membrane|endosome|integral to organelle membrane signal transducer activity endometrium(1)|lung(4) 5 CAGAAGGAACCTGAGGAGAGT 0.637000 6 14 0 0 0.00116845 0 0 NAV3 89795 broad.mit.edu 37 12 78573391 78573391 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:78573391G>A ENST00000397909.2 + 29 5619 c.5446G>A c.(5446-5448)Gat>Aat p.D1816N NAV3_ENST00000536525.2_Missense_Mutation_p.D1794N|NAV3_ENST00000228327.6_Missense_Mutation_p.D1794N|NAV3_ENST00000266692.7_Missense_Mutation_p.D1617N Q8IVL0 NAV3_HUMAN neuron navigator 3 1816 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.D1794Y(1) 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 AAAATTAACGGATATTCGGCT 0.463000 HNSCC(70;0.22) 31 60 0 0 0.00127121 0 0 ADAM32 203102 broad.mit.edu 37 8 39080710 39080710 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:39080710G>A ENST00000379907.4 + 14 1605 c.1478G>A c.(1477-1479)gGa>gAa p.G493E ADAM32_ENST00000437682.2_Missense_Mutation_p.G394E|ADAM32_ENST00000519315.1_Missense_Mutation_p.G387E NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 493 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TGTTATGACGGAGACTGCCAT 0.343000 10 11 0 0 0.000978159 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634988 70634988 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:70634988G>A ENST00000381269.2 - 2 905 c.152C>T c.(151-153)tCa>tTa p.S51L SLC8A3_ENST00000528359.1_Missense_Mutation_p.S51L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S51L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S51L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S51L NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 51 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GCAGTCCGATGACCCTGAACA 0.557000 24 14 0 0 0.000720815 0 0 FAM46D 169966 broad.mit.edu 37 X 79698131 79698131 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:79698131G>A ENST00000538312.1 + 5 427 c.93G>A c.(91-93)ggG>ggA p.G31G FAM46D_ENST00000308293.5_Silent_p.G31G NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 31 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 ATGGAAAGGGGAATTTCCCCA 0.368000 21 3 0 0 0.00121646 0 0 PLXNA4 91584 broad.mit.edu 37 7 131817886 131817886 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:131817886G>A ENST00000359827.3 - 31 6473 c.5511C>T c.(5509-5511)tcC>tcT p.S1837S PLXNA4_ENST00000321063.4_Silent_p.S1837S Q9HCM2 PLXA4_HUMAN plexin A4 1837 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGTGCATCCGGGACTGCTCAG 0.517000 26 92 0 0 0.000720815 0 0 SLC13A1 6561 broad.mit.edu 37 7 122787360 122787360 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:122787360G>A ENST00000194130.2 - 7 704 c.665C>T c.(664-666)tCa>tTa p.S222L SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 222 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TCTCATGCCTGAGTTCTGTTC 0.418000 10 21 0 0 0.00136819 0 0 DDX39B 7919 broad.mit.edu 37 6 31503225 31503225 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31503225G>A ENST00000417556.2 - 7 1329 c.699C>T c.(697-699)acC>acT p.T233T DDX39B_ENST00000376177.2_Silent_p.T218T|DDX39B_ENST00000458640.1_Silent_p.T218T|DDX39B_ENST00000396172.1_Silent_p.T218T|DDX39B_ENST00000415382.2_Silent_p.T140T|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000453105.2_Silent_p.T171T Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 218 Helicase ATP-binding. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TCTCGTGGGGGGTCATGCGAA 0.433000 58 67 0 0 0.000781405 0 0 ADAM18 8749 broad.mit.edu 37 8 39466628 39466628 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:39466628C>T ENST00000265707.5 + 4 301 c.256C>T c.(256-258)Cca>Tca p.P86S ADAM18_ENST00000379866.1_Missense_Mutation_p.P86S|ADAM18_ENST00000520772.1_Missense_Mutation_p.P86S|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 86 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTCTGTGTCTCCATATTTTAT 0.259000 14 35 0 0 0.000219431 0 0 NR6A1 2649 broad.mit.edu 37 9 127298251 127298251 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:127298251G>A ENST00000487099.2 - 7 1142 c.985C>T c.(985-987)Ctg>Ttg p.L329L NR6A1_ENST00000344523.4_Silent_p.L328L|NR6A1_ENST00000416460.2_Silent_p.L324L|NR6A1_ENST00000373584.3_Silent_p.L325L NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 329 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 GAAGACAGCAGGATTAGCTCC 0.512000 44 7 0 0 0.00222228 0 0 NLRP9 338321 broad.mit.edu 37 19 56223323 56223323 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56223323G>A ENST00000332836.2 - 8 2713 c.2686C>T c.(2686-2688)Ccg>Tcg p.P896S NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 896 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CGGGTGATCGGACACGTTTGC 0.547000 38 15 0 0 0.00195071 0 0 FGD6 55785 broad.mit.edu 37 12 95603750 95603750 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:95603750G>A ENST00000343958.4 - 2 1533 c.1310C>T c.(1309-1311)tCg>tTg p.S437L FGD6_ENST00000546711.1_Missense_Mutation_p.S437L|FGD6_ENST00000549499.1_Missense_Mutation_p.S437L NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 437 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CACAGCAAGCGACATACTAGA 0.393000 29 76 0 0 0.000878237 0 0 RBM10 8241 broad.mit.edu 37 X 47039676 47039676 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:47039676C>T ENST00000377604.3 + 11 1870 c.1128C>T c.(1126-1128)acC>acT p.T376T RBM10_ENST00000345781.6_Silent_p.T299T|RBM10_ENST00000329236.7_Silent_p.T298T|RBM10_ENST00000468791.1_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 376 RRM 2. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ACGGCAAGACCATCAATGTTG 0.632000 9 0 0 0 0.000442599 0 0 SCML2 10389 broad.mit.edu 37 X 18276309 18276309 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:18276309G>A ENST00000251900.4 - 10 1287 c.1128C>T c.(1126-1128)atC>atT p.I376I SCML2_ENST00000398048.3_Silent_p.I112I NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 376 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) GCAGCTGCTGGATTCTCTTGG 0.483000 52 5 0 0 0.000781405 0 0 BMP1 649 broad.mit.edu 37 8 22033822 22033822 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:22033822C>T ENST00000306385.5 + 3 1099 c.429C>T c.(427-429)ttC>ttT p.F143F BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000306349.8_Silent_p.F143F|BMP1_ENST00000354870.5_Silent_p.F143F|BMP1_ENST00000397814.3_Silent_p.F143F|BMP1_ENST00000397816.3_Silent_p.F143F NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 143 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GGGGAAACTTCACTGGTGAGC 0.652000 12 33 0 0 0.00185496 0 0 MIB2 142678 broad.mit.edu 37 1 1563922 1563922 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:1563922C>T ENST00000357210.4 + 16 2412 c.2196C>T c.(2194-2196)ctC>ctT p.L732L MIB2_ENST00000360522.4_Silent_p.L697L|MIB2_ENST00000505820.2_Silent_p.L789L|MIB2_ENST00000518681.1_Silent_p.L724L|MIB2_ENST00000355826.5_Silent_p.L775L|MIB2_ENST00000520777.1_Silent_p.L785L|MIB2_ENST00000504599.1_Silent_p.L688L|MIB2_ENST00000378712.1_Silent_p.L609L|MIB2_ENST00000378708.1_Silent_p.L638L|MIB2_ENST00000378710.3_Silent_p.L696L NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 732 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGCTGCATCTCGCCGTGCAAC 0.706000 15 5 0 0 0.00074312 0 0 GABRG3 2567 broad.mit.edu 37 15 27572008 27572008 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:27572008G>A ENST00000333743.6 + 4 577 c.323G>A c.(322-324)cGa>cAa p.R108Q GABRG3_ENST00000555083.1_Missense_Mutation_p.R108Q NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 108 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AGTCGCCTTCGATTCAACAGC 0.418000 93 102 0 0 0.000781405 0 0 CYP2E1 1571 broad.mit.edu 37 10 135350625 135350625 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:135350625G>A ENST00000463117.2 + 9 1298 c.1026G>A c.(1024-1026)aaG>aaA p.K342K CYP2E1_ENST00000252945.3_Silent_p.K342K|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 342 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CTGCCATCAAGGATAGGCAAG 0.517000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 35 47 0 0 0.000953801 0 0 B3GAT3 26229 broad.mit.edu 37 11 62389381 62389381 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62389381G>A ENST00000531383.1 - 1 245 c.39C>T c.(37-39)ttC>ttT p.F13F B3GAT3_ENST00000534026.1_Silent_p.F13F|B3GAT3_ENST00000265471.5_Silent_p.F13F O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 13 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 TCGACACCAGGAAGTAGGCGA 0.751000 35 26 0 0 0.000589545 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438691 6438691 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:6438691G>A ENST00000162749.2 - 10 1454 c.1155C>T c.(1153-1155)atC>atT p.I385I TNFRSF1A_ENST00000540022.1_Silent_p.I342I NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 385 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 CCAGCCGATCGATCTCGTGGT 0.701000 11 9 0 0 0.000219431 0 0 TMEM104 54868 broad.mit.edu 37 17 72791704 72791704 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:72791704C>T ENST00000335464.5 + 8 731 c.569C>T c.(568-570)aCc>aTc p.T190I TMEM104_ENST00000417024.2_Missense_Mutation_p.T203I|TMEM104_ENST00000582773.1_Missense_Mutation_p.T190I|TMEM104_ENST00000582330.1_Missense_Mutation_p.T190I NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 190 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) GAAGCAGACACCAAATACAAT 0.637000 7 28 0 0 0.000274275 0 0 ANK2 287 broad.mit.edu 37 4 114275446 114275446 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:114275446C>T ENST00000357077.4 + 38 5725 c.5672C>T c.(5671-5673)tCt>tTt p.S1891F ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1858F|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1858 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAAAGGCACTCTCCTGTGTCA 0.473000 45 48 0 0 0.000680045 0 0 MAP2 4133 broad.mit.edu 37 2 210595033 210595033 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:210595033C>T ENST00000360351.4 + 15 5902 c.5396C>T c.(5395-5397)tCg>tTg p.S1799L MAP2_ENST00000199940.6_Missense_Mutation_p.S531L|MAP2_ENST00000447185.1_Missense_Mutation_p.S1795L|MAP2_ENST00000361559.4_Missense_Mutation_p.S443L|MAP2_ENST00000392194.1_Missense_Mutation_p.S443L NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1799 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AATGTCTCCTCGTCTGGAAGC 0.542000 20 25 0 0 0.00188189 0 0 SIN3A 25942 broad.mit.edu 37 15 75692436 75692436 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:75692436G>A ENST00000394947.3 - 12 2113 c.1799C>T c.(1798-1800)tCc>tTc p.S600F SIN3A_ENST00000360439.4_Missense_Mutation_p.S600F|SIN3A_ENST00000394949.4_Missense_Mutation_p.S600F NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 600 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 AGTCTTCTTGGAACTCACAAA 0.413000 48 31 0 0 0.000680045 0 0 TBX2 6909 broad.mit.edu 37 17 59485548 59485548 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:59485548C>T ENST00000240328.3 + 7 2101 c.1820C>T c.(1819-1821)tCc>tTc p.S607F RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 607 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 gGCTCCCTCTCCCGGAGCCCC 0.706000 8 18 0 0 0.000442599 0 0 PABPC3 5042 broad.mit.edu 37 13 25670872 25670872 + Missense_Mutation SNP G G A rs139042913 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25670872G>A ENST00000281589.3 + 1 573 c.536G>A c.(535-537)cGa>cAa p.R179Q NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 179 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CGTAAAGAACGAGAAGCTGAA 0.413000 8 36 0 0 0.000274275 0 0 KCNQ4 9132 broad.mit.edu 37 1 41300637 41300637 + Splice_Site SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:41300637A>C ENST00000347132.5 + 12 1695 c.e12-1 KCNQ4_ENST00000509682.2_Splice_Site|KCNQ4_ENST00000506017.1_Splice_Site NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) CTCCCCCAACAGGATTCTCAA 0.557000 51 26 0 0 0.000781405 0 0 DROSHA 29102 broad.mit.edu 37 5 31422952 31422952 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:31422952C>A ENST00000511367.2 - 28 3605 c.3361G>T c.(3361-3363)Gtt>Ttt p.V1121F DROSHA_ENST00000344624.3_Missense_Mutation_p.V1121F|DROSHA_ENST00000442743.1_Missense_Mutation_p.V1084F|DROSHA_ENST00000513349.1_Missense_Mutation_p.V1084F NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 1121 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 AGAAGTCGAACATGAGTAAAA 0.388000 26 2 9.04412e-07 4.32083e-06 0.000720815 1 0 IK 3550 broad.mit.edu 37 5 140035472 140035472 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140035472C>T ENST00000417647.2 + 9 835 c.696C>T c.(694-696)ttC>ttT p.F232F NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 232 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGTTGTTCCTGCCGGGCC 0.502000 9 10 0 0 0.000673444 0 0 TP53BP1 7158 broad.mit.edu 37 15 43773106 43773106 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:43773106G>A ENST00000263801.3 - 5 723 c.471C>T c.(469-471)tcC>tcT p.S157S TP53BP1_ENST00000450115.2_Silent_p.S162S|TP53BP1_ENST00000382044.4_Silent_p.S162S|TP53BP1_ENST00000382039.3_Silent_p.S162S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 157 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CAGCACCAAGGGAATGTGTAG 0.413000 Other conserved DNA damage response genes 42 35 0 0 0.000509022 0 0 BMP5 653 broad.mit.edu 37 6 55659192 55659192 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:55659192C>T ENST00000370830.3 - 3 1415 c.717G>A c.(715-717)aaG>aaA p.K239K BMP5_ENST00000446683.2_Silent_p.K239K NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 239 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) AAGCTTGGGCCTTTCTTGTGT 0.373000 57 79 0 0 0.000781405 0 0 SBSPON 157869 broad.mit.edu 37 8 73982117 73982117 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:73982117C>T ENST00000297354.6 - 4 804 c.600G>A c.(598-600)acG>acA p.T200T SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 200 immune response extracellular region polysaccharide binding|scavenger receptor activity CCACACACACCGTGTATCCCT 0.488000 34 22 0 0 0.000692331 0 0 CCDC60 160777 broad.mit.edu 37 12 119909887 119909887 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:119909887C>T ENST00000327554.2 + 3 724 c.259C>T c.(259-261)Cag>Tag p.Q87* RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 87 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) ACAACAACTTCAGAAACTGAA 0.428000 50 100 0 0 0.000781405 0 0 IRF7 3665 broad.mit.edu 37 11 615225 615225 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:615225G>A ENST00000397566.1 - 1 503 c.94C>T c.(94-96)Ctt>Ttt p.L32F IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.L19F|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397574.2_Missense_Mutation_p.L19F|IRF7_ENST00000348655.6_Missense_Mutation_p.L19F|IRF7_ENST00000330243.5_Missense_Mutation_p.L32F NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 19 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATCTCTCCAAGGAGCCACTCT 0.697000 6 6 0 0 0.00198382 0 0 REG3G 130120 broad.mit.edu 37 2 79254218 79254218 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:79254218G>A ENST00000272324.5 + 4 438 c.254G>A c.(253-255)gGa>gAa p.G85E REG3G_ENST00000393897.2_Missense_Mutation_p.G85E|REG3G_ENST00000409471.1_Intron NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 85 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGGCTGAGGGATCCTTCGTG 0.552000 60 56 0 0 0.000781405 0 0 OR1M1 125963 broad.mit.edu 37 19 9204520 9204520 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9204520C>T ENST00000429566.3 + 1 666 c.600C>T c.(598-600)ctC>ctT p.L200L NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TCTTCATCCTCATTGTGGCAG 0.567000 50 46 0 0 0.000781405 0 0 TYK2 7297 broad.mit.edu 37 19 10461603 10461603 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:10461603G>A ENST00000525621.1 - 25 3952 c.3471C>T c.(3469-3471)tcC>tcT p.S1157S TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000524462.1_Silent_p.S972S|TYK2_ENST00000264818.6_Silent_p.S1157S NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 1157 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TTGGGCGAAAGGACGCCTCTG 0.552000 40 30 0 0 0.00222228 0 0 MUC16 94025 broad.mit.edu 37 19 9075994 9075994 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9075994G>A ENST00000397910.4 - 3 11655 c.11452C>T c.(11452-11454)Ccc>Tcc p.P3818S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3819 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGTGGTGGGAAGCTGAGTG 0.507000 59 155 0 0 0.000781405 0 0 TCOF1 6949 broad.mit.edu 37 5 149754238 149754238 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:149754238C>T ENST00000451292.1 + 9 1250 c.1142C>T c.(1141-1143)tCc>tTc p.S381F TCOF1_ENST00000504761.2_Missense_Mutation_p.S381F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S381F|TCOF1_ENST00000394269.3_Missense_Mutation_p.S381F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S381F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S381F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S304F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S304F Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 381 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCAAGGAGTCCCCCAGGAAA 0.657000 14 38 0 0 0.000219431 0 0 ART3 419 broad.mit.edu 37 4 77003040 77003040 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:77003040G>A ENST00000355810.4 + 3 252 c.133G>A c.(133-135)Gac>Aac p.D45N ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Missense_Mutation_p.D45N|ART3_ENST00000341029.5_Missense_Mutation_p.D45N NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 45 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAAATGTACGGACAGGATGGA 0.388000 49 52 0 0 0.000781405 0 0 TNS3 64759 broad.mit.edu 37 7 47408318 47408318 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:47408318G>A ENST00000398879.1 - 17 2291 c.1925C>T c.(1924-1926)gCt>gTt p.A642V TNS3_ENST00000355730.3_Missense_Mutation_p.A402V|TNS3_ENST00000311160.9_Missense_Mutation_p.A642V Q68CZ2 TENS3_HUMAN tensin 3 642 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CCTCTGGACAGCCACCCTACT 0.657000 38 63 0 0 0.00111076 0 0 ST18 9705 broad.mit.edu 37 8 53079445 53079445 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:53079445C>G ENST00000276480.7 - 11 1854 c.1171G>C c.(1171-1173)Ggg>Cgg p.G391R NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 391 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGGGGCACCCCGAAAGGCTG 0.562000 43 49 0 0 0.000509022 0 0 OR12D2 26529 broad.mit.edu 37 6 29365088 29365088 + Silent SNP T T C rs144790258 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29365088T>C ENST00000383555.2 + 1 673 c.612T>C c.(610-612)atT>atC p.I204I OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CGGGGACAATTGCCATGGGCC 0.443000 5 131 0 0 0.000274275 0 0 NFASC 23114 broad.mit.edu 37 1 204985599 204985599 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:204985599G>A ENST00000367172.4 + 32 4304 c.3976G>A c.(3976-3978)Gag>Aag p.E1326K NFASC_ENST00000338515.6_Missense_Mutation_p.E1236K|NFASC_ENST00000367170.4_Missense_Mutation_p.E1247K|NFASC_ENST00000338586.6_Missense_Mutation_p.E1203K|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.E1311K|NFASC_ENST00000404907.1_Missense_Mutation_p.E1153K|NFASC_ENST00000360049.4_Missense_Mutation_p.E1148K|NFASC_ENST00000404076.1_Missense_Mutation_p.E1136K|NFASC_ENST00000339876.6_Missense_Mutation_p.E1219K|NFASC_ENST00000401399.1_Missense_Mutation_p.E1219K|NFASC_ENST00000367169.4_Missense_Mutation_p.E1050K|NFASC_ENST00000539706.1_Missense_Mutation_p.E1153K|NFASC_ENST00000513543.1_Missense_Mutation_p.E1148K O94856 NFASC_HUMAN neurofascin 1326 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAAGGACAAGGAGGAAACAGA 0.572000 15 39 0 0 0.000566183 0 0 ZFP30 22835 broad.mit.edu 37 19 38127197 38127197 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38127197G>A ENST00000351218.2 - 6 802 c.245C>T c.(244-246)tCc>tTc p.S82F ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.S82F|ZFP30_ENST00000514101.2_Missense_Mutation_p.S82F NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTCATATCTGGATTCCAAATC 0.294000 14 11 0 0 0.000422831 0 0 PSD4 23550 broad.mit.edu 37 2 113943598 113943598 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:113943598C>T ENST00000245796.6 + 5 1589 c.1394C>T c.(1393-1395)tCc>tTc p.S465F PSD4_ENST00000441564.2_Missense_Mutation_p.S437F NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 465 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTGCATCGTCCCAGGAGGGC 0.612000 27 35 0 0 0.00106085 0 0 PCBP1 5093 broad.mit.edu 37 2 70314983 70314983 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:70314983T>C ENST00000303577.5 + 1 399 c.108T>C c.(106-108)gtT>gtC p.V36V PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 36 KH 1. nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 GGGAGTCGGTTAAGAGGATCC 0.527000 56 78 0 0 0.000781405 0 0 SCARF1 8578 broad.mit.edu 37 17 1548500 1548500 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:1548500C>T ENST00000263071.4 - 2 184 c.135G>A c.(133-135)tgG>tgA p.W45* SCARF1_ENST00000348987.3_Nonsense_Mutation_p.W45*|SCARF1_ENST00000571272.1_Nonsense_Mutation_p.W45* NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 45 cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCTTCTGCCTCCAGCCTGCGC 0.622000 93 3 0 0 0.000781405 0 0 CACNG3 10368 broad.mit.edu 37 16 24358083 24358083 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:24358083C>T ENST00000005284.3 + 2 1442 c.240C>T c.(238-240)atC>atT p.I80I NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 80 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GCAAGAAAATCGATCACTTCC 0.582000 9 32 0 0 0.000274275 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103026069 103026069 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:103026069C>T ENST00000375735.2 + 25 3727 c.3583C>T c.(3583-3585)Cct>Tct p.P1195S DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P1195S NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1195 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GATCGTAATTCCTATCTTGAA 0.333000 18 3 0 0 0.000566183 0 0 FMN2 56776 broad.mit.edu 37 1 240370636 240370636 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:240370636G>A ENST00000319653.9 + 5 2754 c.2524G>A c.(2524-2526)Gaa>Aaa p.E842K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 842 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.E985K(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AACCAGCCACGAACACTCTGT 0.557000 62 25 0 0 0.000781405 0 0 PDGFRA 5156 broad.mit.edu 37 4 55155000 55155000 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:55155000T>C ENST00000257290.5 + 20 3040 c.2709T>C c.(2707-2709)tcT>tcC p.S903S FIP1L1_ENST00000507166.1_Silent_p.S663S NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 903 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGGTGGATTCTACTTTCTACA 0.512000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 30 21 0 0 0.00178596 0 0 DUSP26 78986 broad.mit.edu 37 8 33451117 33451117 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:33451117A>T ENST00000256261.4 - 3 887 c.370T>A c.(370-372)Ttt>Att p.F124I DUSP26_ENST00000523956.1_Missense_Mutation_p.F124I NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 124 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) CTCATGTCAAAGGCTGGCGAG 0.642000 11 65 0 0 0.000673444 0 0 PTTG2 10744 broad.mit.edu 37 4 37962567 37962567 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:37962567C>T ENST00000504686.1 + 1 512 c.512C>T c.(511-513)tCt>tTt p.S171F TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron NM_006607.2 NP_006598.2 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 171 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding breast(1)|endometrium(1)|lung(4)|skin(1) 7 AAAATGCCCTCTCCACCATGG 0.488000 80 91 0 0 0.000781405 0 0 CARD10 29775 broad.mit.edu 37 22 37888516 37888516 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37888516C>T ENST00000403299.1 - 19 2893 c.2677G>A c.(2677-2679)Gga>Aga p.G893R CARD10_ENST00000406271.3_Missense_Mutation_p.G607R|CARD10_ENST00000251973.5_Missense_Mutation_p.G893R Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 893 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) TTGGGGGCTCCAGGCGCTGAG 0.672000 33 79 0 0 0.00128727 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702640 27702640 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:27702640C>T ENST00000438700.3 - 1 657 c.540G>A c.(538-540)gcG>gcA p.A180A NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 180 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 AGCGCCGCTCCGCCTTGGCCG 0.632000 111 57 0 0 0.000781405 0 0 ZNF334 55713 broad.mit.edu 37 20 45130524 45130524 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:45130524C>T ENST00000457685.2 - 6 2663 c.1340G>A c.(1339-1341)gGa>gAa p.G447E ZNF334_ENST00000347606.4_Missense_Mutation_p.G485E|ZNF334_ENST00000593880.1_Missense_Mutation_p.G508E Q9HCZ1 ZN334_HUMAN zinc finger protein 334 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ATGTTTCTCTCCTGTGTGTGT 0.363000 41 158 0 0 0.00170553 0 0 SPON2 10417 broad.mit.edu 37 4 1165760 1165760 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:1165760T>C ENST00000290902.5 - 2 432 c.100A>G c.(100-102)Atc>Gtc p.I34V SPON2_ENST00000431380.1_Missense_Mutation_p.I34V NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 34 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) GCGGAACAGATGGACTCTCCC 0.687000 19 33 0 0 0.00229938 0 0 INTS7 25896 broad.mit.edu 37 1 212115247 212115247 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:212115247G>A ENST00000366994.3 - 20 2912 c.2808C>T c.(2806-2808)tcC>tcT p.S936S INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.S922S|INTS7_ENST00000366992.3_Silent_p.S916S|INTS7_ENST00000440600.2_Silent_p.S887S NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 936 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GAATTTGCTGGGAATAAGGGT 0.453000 75 38 0 0 0.000781405 0 0 OR1F2P 26184 broad.mit.edu 37 16 3265703 3265703 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3265703C>T ENST00000576468.1 + 0 418 TTGTGTTCTTCCTCAGCATGT 0.557000 8 14 0 0 0.000157383 0 0 CHDH 55349 broad.mit.edu 37 3 53852986 53852986 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:53852986G>A ENST00000315251.5 - 8 1782 c.1345C>T c.(1345-1347)Cag>Tag p.Q449* NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 449 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) TAGTTGGGCTGGATCACAGGG 0.527000 38 7 0 0 0.00170553 0 0 FAM83B 222584 broad.mit.edu 37 6 54805567 54805567 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:54805567C>T ENST00000306858.7 + 5 1914 c.1798C>T c.(1798-1800)Ccc>Tcc p.P600S NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 600 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGAATCAATCCCCAAGCTCCC 0.468000 29 30 0 0 0.001512 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38655244 38655244 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:38655244C>T ENST00000222345.6 + 15 4415 c.3906C>T c.(3904-3906)tcC>tcT p.S1302S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1302 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACCCCCTCTCCAAGGGTGGCT 0.657000 8 17 0 0 0.000157383 0 0 CDC14B 8555 broad.mit.edu 37 9 99381652 99381652 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:99381652C>T ENST00000375241.1 - 1 460 c.9G>A c.(7-9)cgG>cgA p.R3R CDC14B_ENST00000265659.2_Silent_p.R3R|CDC14B_ENST00000375240.3_Silent_p.R3R|CDC14B_ENST00000463569.1_Silent_p.R3R|CDC14B_ENST00000375236.1_Silent_p.R3R NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 3 activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) GCTCGCTTTTCCGCTTCATGG 0.791000 6 1 0 0 0.000157383 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857546 9857546 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:9857546C>T ENST00000396573.2 - 14 4164 c.3855G>A c.(3853-3855)agG>agA p.R1285R GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.R1285R|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.R1285R NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1285 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GACGGCTAATCCTTAGCTTGT 0.532000 22 57 0 0 0.000375601 0 0 GPR116 221395 broad.mit.edu 37 6 46851850 46851850 + Missense_Mutation SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:46851850A>C ENST00000283296.7 - 5 775 c.487T>G c.(487-489)Ttt>Gtt p.F163V GPR116_ENST00000456426.2_Missense_Mutation_p.F163V|GPR116_ENST00000265417.7_Missense_Mutation_p.F163V|GPR116_ENST00000362015.4_Missense_Mutation_p.F163V NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 163 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AGCAGGCAAAAAGGTCCATTG 0.478000 53 98 0 0 0.000781405 0 0 TNNI3K 51086 broad.mit.edu 37 1 74905279 74905279 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:74905279G>A ENST00000370891.2 + 22 2303 c.2287G>A c.(2287-2289)Gaa>Aaa p.E763K FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCACTGGCGAAATTCCATT 0.438000 23 80 0 0 0.000878237 0 0 TSPAN17 26262 broad.mit.edu 37 5 176083871 176083871 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176083871C>T ENST00000298564.10 + 4 626 c.477C>T c.(475-477)tcC>tcT p.S159S TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000508164.1_Intron|TSPAN17_ENST00000515708.1_Intron Q96FV3 TSN17_HUMAN tetraspanin 17 247 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCACTCTCCCCTCACCTGT 0.622000 12 29 0 0 0.00121646 0 0 SPTA1 6708 broad.mit.edu 37 1 158596768 158596768 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158596768C>T ENST00000368148.3 - 41 5874 c.5694G>A c.(5692-5694)gaG>gaA p.E1898E SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.E1895E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1898 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGGAAGAAATCTCTTTGTTCT 0.423000 68 59 0 0 0.000781405 0 0 HOXB8 3218 broad.mit.edu 37 17 46691711 46691711 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:46691711C>T ENST00000239144.4 - 1 590 c.356G>A c.(355-357)gGc>gAc p.G119D HOXB8_ENST00000576562.1_Missense_Mutation_p.G119D|HOXB7_ENST00000567101.1_Intron NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 119 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 GGCCTCCTCGCCCAGGCCGCT 0.692000 4 11 0 0 0.00024832 0 0 PLXNA4 91584 broad.mit.edu 37 7 131870132 131870132 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:131870132G>A ENST00000359827.3 - 16 4046 c.3084C>T c.(3082-3084)atC>atT p.I1028I PLXNA4_ENST00000321063.4_Silent_p.I1028I Q9HCM2 PLXA4_HUMAN plexin A4 1028 IPT/TIG 2. integral to membrane|intracellular|plasma membrane p.I1028M(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGTCCTGGTGGATCTTGGCCC 0.557000 24 94 0 0 0.000720815 0 0 SLC4A9 83697 broad.mit.edu 37 5 139748220 139748220 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:139748220C>T ENST00000230993.6 + 17 2510 c.2475C>T c.(2473-2475)tcC>tcT p.S825S SLC4A9_ENST00000506757.2_Silent_p.S801S|SLC4A9_ENST00000432095.2_Silent_p.S787S|SLC4A9_ENST00000506545.1_Silent_p.S738S|SLC4A9_ENST00000507527.1_Silent_p.S825S NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 825 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGAGCCTCCATCTTCCTGG 0.527000 12 39 0 0 0.000219431 0 0 EPHB1 2047 broad.mit.edu 37 3 134885813 134885813 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:134885813A>T ENST00000398015.3 + 9 2094 c.1724A>T c.(1723-1725)tAc>tTc p.Y575F EPHB1_ENST00000493838.1_Missense_Mutation_p.Y136F NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 575 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GAGGCTGTGTACAGCGATAAG 0.547000 46 160 0 0 0.000781405 0 0 ZNF423 23090 broad.mit.edu 37 16 49671869 49671869 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:49671869C>T ENST00000561648.1 - 4 1247 c.1194G>A c.(1192-1194)cgG>cgA p.R398R ZNF423_ENST00000562520.1_Silent_p.R338R|ZNF423_ENST00000535559.1_Silent_p.R281R|ZNF423_ENST00000562871.1_Silent_p.R338R|ZNF423_ENST00000567169.1_Silent_p.R281R|ZNF423_ENST00000262383.2_Silent_p.R398R|ZNF423_ENST00000563137.2_Silent_p.R338R NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 398 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCCCGTCATCCCGCATCTTCT 0.632000 10 30 0 0 0.000978159 0 0 MUC16 94025 broad.mit.edu 37 19 9069614 9069614 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9069614G>A ENST00000397910.4 - 3 18035 c.17832C>T c.(17830-17832)tcC>tcT p.S5944S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5946 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGATACTGCGGAATAAAGAG 0.512000 45 20 0 0 0.000509022 0 0 FAAH 2166 broad.mit.edu 37 1 46876082 46876082 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:46876082C>T ENST00000243167.8 + 10 1272 c.1188C>T c.(1186-1188)ttC>ttT p.F396F NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 396 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity p.F396F(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) AAGGTGATTTCGTGGACCCCT 0.572000 67 260 0 0 0.000781405 0 0 CNTN4 152330 broad.mit.edu 37 3 2908625 2908625 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:2908625G>A ENST00000397461.1 + 7 1028 c.644G>A c.(643-645)aGa>aAa p.R215K CNTN4_ENST00000427331.1_Missense_Mutation_p.R215K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R215K|CNTN4_ENST00000358480.3_5'UTR NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 215 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CTAATATTGAGAAATGATGGT 0.393000 13 31 0 0 0.00185496 0 0 HSCB 150274 broad.mit.edu 37 22 29139940 29139940 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:29139940C>T ENST00000216027.3 + 2 372 c.307C>T c.(307-309)Cca>Tca p.P103S HSCB_ENST00000398941.2_Missense_Mutation_p.P103S|HSCB_ENST00000495977.1_3'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 103 J. iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 TCTTGTCCACCCAGATTTCTT 0.483000 44 104 0 0 0.000781405 0 0 EPHA6 285220 broad.mit.edu 37 3 96706808 96706808 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:96706808G>A ENST00000389672.5 + 3 1123 c.1085G>A c.(1084-1086)gGa>gAa p.G362E EPHA6_ENST00000470610.2_Missense_Mutation_p.G362E|EPHA6_ENST00000542517.1_Missense_Mutation_p.G268E NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 267 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGCAGTACAGGATATGAAGAA 0.348000 31 53 0 0 0.001512 0 0 SRP19 6728 broad.mit.edu 37 5 112198222 112198222 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:112198222C>A ENST00000505459.1 + 2 214 c.59C>A c.(58-60)cCt>cAt p.P20H CTC-554D6.1_ENST00000520401.1_Silent_p.S91S|SRP19_ENST00000515463.1_Intron|SRP19_ENST00000282999.3_Missense_Mutation_p.P20H|SRP19_ENST00000512790.1_3'UTR NM_001204193.1|NM_003135.2 NP_001191122.1|NP_003126.1 P09132 SRP19_HUMAN signal recognition particle 19kDa 20 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding breast(1)|cervix(1)|large_intestine(1) 3 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TGTATCTATCCTGCTTATTTA 0.473000 13 13 4.3838e-07 2.09523e-06 0.00185496 1 0 IPO5 3843 broad.mit.edu 37 13 98658486 98658486 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:98658486T>A ENST00000261574.5 + 17 1834 c.1654T>A c.(1654-1656)Ttt>Att p.F552I IPO5_ENST00000490680.1_Missense_Mutation_p.F534I|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.F409I NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 534 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 CTATGATTTATTTATGCCATC 0.403000 59 64 0 0 0.000781405 0 0 FAM129A 116496 broad.mit.edu 37 1 184792358 184792358 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:184792358G>A ENST00000367511.3 - 8 1121 c.928C>T c.(928-930)Cgt>Tgt p.R310C FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 310 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 ATGTCAGAACGGATCGTTCCT 0.428000 23 46 0 0 0.00047179 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034212 52034212 + Splice_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52034212G>A ENST00000346477.3 - 3 497 c.427_splice c.e3-1 p.A143_splice SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000359982.4_Splice_Site_p.A143_splice|SIGLEC6_ENST00000436458.1_Splice_Site_p.A107_splice|SIGLEC6_ENST00000343300.4_Splice_Site_p.A143_splice|SIGLEC6_ENST00000425629.3_Splice_Site_p.A143_splice NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 143 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TGTGGGTCAGGGCTGGTGAGG 0.622000 49 49 0 0 0.000781405 0 0 CACNA1H 8912 broad.mit.edu 37 16 1245497 1245497 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:1245497G>A ENST00000348261.5 + 4 725 c.477G>A c.(475-477)ggG>ggA p.G159G CACNA1H_ENST00000565831.1_Silent_p.G159G|CACNA1H_ENST00000358590.4_Silent_p.G159G NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 159 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGGCCTTGGGGCTGTTCGGGC 0.607000 6 8 0 0 0.00198382 0 0 TRIM29 23650 broad.mit.edu 37 11 119991312 119991312 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:119991312C>T ENST00000341846.5 - 6 1918 c.1497G>A c.(1495-1497)caG>caA p.Q499Q TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000541857.1_Silent_p.Q232Q|TRIM29_ENST00000529044.1_Silent_p.Q238Q|TRIM29_ENST00000528870.1_Silent_p.Q32Q|TRIM29_ENST00000524816.3_Silent_p.Q65Q NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 499 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TGAAATTCTTCTGGGTGGTCT 0.552000 19 3 0 0 0.00121646 0 0 ADAM10 102 broad.mit.edu 37 15 58936118 58936118 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:58936118G>A ENST00000260408.3 - 7 1238 c.795C>T c.(793-795)atC>atT p.I265I ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 265 Peptidase M12B. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TGATGTTACGGATTCCGGAGA 0.338000 30 81 0 0 0.000692331 0 0 MYH3 4621 broad.mit.edu 37 17 10551946 10551946 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:10551946G>A ENST00000583535.1 - 8 750 c.663C>T c.(661-663)atC>atT p.I221I MYH3_ENST00000226209.7_Silent_p.I221I NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 221 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGGCACTGATGATTTGATCTT 0.463000 100 6 0 0 0.000781405 0 0 TRAF7 84231 broad.mit.edu 37 16 2225900 2225900 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:2225900C>T ENST00000326181.6 + 18 1824 c.1692C>T c.(1690-1692)tcC>tcT p.S564S NM_032271.2 NP_115647.2 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7, E3 ubiquitin protein ligase 564 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 GCGTCTACTCCATTGCTGTGA 0.572000 30 16 0 0 0.00178596 0 0 PDE9A 5152 broad.mit.edu 37 21 44188352 44188352 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:44188352G>A ENST00000291539.6 + 16 1471 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K PDE9A_ENST00000398225.3_Missense_Mutation_p.E430K|PDE9A_ENST00000398227.3_Missense_Mutation_p.E311K|PDE9A_ENST00000398229.3_Missense_Mutation_p.E337K|PDE9A_ENST00000398232.3_Missense_Mutation_p.E404K|PDE9A_ENST00000398234.3_Missense_Mutation_p.E370K|PDE9A_ENST00000398224.3_Missense_Mutation_p.E344K|PDE9A_ENST00000349112.3_Missense_Mutation_p.E343K|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.E385K|PDE9A_ENST00000380328.2_Missense_Mutation_p.E418K|PDE9A_ENST00000335440.6_Missense_Mutation_p.E369K|PDE9A_ENST00000328862.6_Missense_Mutation_p.E445K|PDE9A_ENST00000539837.1_Missense_Mutation_p.E343K|PDE9A_ENST00000335512.4_Missense_Mutation_p.E411K NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 471 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 CCGTCCAATGGAAGTCGCAGA 0.433000 44 33 0 0 0.000781405 0 0 APBA1 320 broad.mit.edu 37 9 72055996 72055996 + Silent SNP G G A rs143924269 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:72055996G>A ENST00000265381.4 - 11 2439 c.2217C>T c.(2215-2217)atC>atT p.I739I NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 739 PDZ 1. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GACATCTCACGATATTCAGCT 0.458000 48 6 0 0 0.000781405 0 0 CYFIP1 23191 broad.mit.edu 37 15 22945107 22945107 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:22945107T>A ENST00000313077.7 + 12 1303 c.1178T>A c.(1177-1179)cTg>cAg p.L393Q CYFIP1_ENST00000560848.1_Missense_Mutation_p.L393Q NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 393 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTCTTCGACCTGGCGCTGCAG 0.701000 10 9 0 0 0.000673444 0 0 JPH3 57338 broad.mit.edu 37 16 87677874 87677874 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:87677874G>A ENST00000284262.2 + 2 635 c.393G>A c.(391-393)caG>caA p.Q131Q NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 131 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) GGACCTACCAGGGCCAGTGGG 0.667000 41 22 0 0 0.000781405 0 0 NOTCH1 4851 broad.mit.edu 37 9 139390979 139390979 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:139390979C>T ENST00000277541.6 - 34 7287 c.7212G>A c.(7210-7212)caG>caA p.Q2404Q NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2404 Poly-Gln. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCTTTGCTGCTGCTGGATGT 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 42 3 0 0 0.00195071 0 0 CXorf22 170063 broad.mit.edu 37 X 35985752 35985752 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:35985752C>T ENST00000297866.5 + 10 1683 c.1617C>T c.(1615-1617)atC>atT p.I539I NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 539 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TGCCTTCGATCCGTAATCCCA 0.338000 11 2 0 0 0.000978159 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060522 128060522 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:128060522G>A ENST00000254730.6 + 5 1287 c.1233G>A c.(1231-1233)tgG>tgA p.W411* EEFSEC_ENST00000483457.1_Nonsense_Mutation_p.W356*|EEFSEC_ENST00000483569.1_3'UTR NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 411 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 GGCAGCAGTGGGCCCTGGTGG 0.602000 37 38 0 0 0.00111076 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34839369 34839369 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:34839369C>T ENST00000192788.5 + 19 4161 c.3990C>T c.(3988-3990)atC>atT p.I1330I UHRF1BP1_ENST00000452449.2_Silent_p.I1330I NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1330 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGATGATATCCCCCCCATCT 0.517000 37 26 0 0 0.00170553 0 0 RGPD8 727851 broad.mit.edu 37 2 113127770 113127770 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:113127770G>A ENST00000302558.3 - 23 5474 c.5283C>T c.(5281-5283)tcC>tcT p.S1761S RGPD8_ENST00000409750.1_Silent_p.S1621S NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CAGAAGAACGGGAAGGATTTT 0.303000 40 61 0 0 0.000781405 0 0 AGRN 375790 broad.mit.edu 37 1 981185 981185 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:981185C>T ENST00000379370.2 + 15 2659 c.2609C>T c.(2608-2610)cCc>cTc p.P870L NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 870 Laminin EGF-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TCGTGTAAGCCCGGGGTGGCT 0.672000 72 22 0 0 0.000781405 0 0 TNK1 8711 broad.mit.edu 37 17 7287889 7287889 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7287889C>T ENST00000570896.1 + 8 1399 c.953C>T c.(952-954)tCc>tTc p.S318F TNK1_ENST00000576812.1_Missense_Mutation_p.S318F|TNK1_ENST00000311668.2_Missense_Mutation_p.S318F Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 318 Protein kinase. protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) GAGATGTTCTCCGGGGGCGAG 0.682000 19 2 0 0 0.00188189 0 0 BRCA1 672 broad.mit.edu 37 17 41246107 41246107 + Silent SNP G G A rs80357778 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:41246107G>A ENST00000309486.4 - 9 1580 c.553C>T c.(553-555)Cta>Tta p.L185L BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Silent_p.L481L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000354071.3_Silent_p.L481L|BRCA1_ENST00000493795.1_Silent_p.L434L|BRCA1_ENST00000346315.3_Silent_p.L481L|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Silent_p.L481L NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 481 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CCTATAATTAGATTTTCAGTT 0.393000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 40 100 0 0 0.000680045 0 0 PMEPA1 56937 broad.mit.edu 37 20 56234731 56234731 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:56234731G>A ENST00000341744.3 - 2 451 c.132C>T c.(130-132)atC>atT p.I44I PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000265626.4_5'UTR|PMEPA1_ENST00000347215.4_Silent_p.I9I|PMEPA1_ENST00000395814.1_5'UTR|PMEPA1_ENST00000395816.3_5'UTR NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 44 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CGATGATGATGATCTGAACAA 0.572000 5 8 0 0 0.000602214 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447658 10447658 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:10447658G>A ENST00000326756.3 - 3 733 c.295C>T c.(295-297)Cat>Tat p.H99Y NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 CTCACAAAATGAAAATTGGGA 0.418000 33 45 0 0 0.000953801 0 0 KCNB2 9312 broad.mit.edu 37 8 73848625 73848625 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:73848625G>A ENST00000523207.1 + 3 1623 c.1035G>A c.(1033-1035)ggG>ggA p.G345G NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 345 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGGCCATGGGGATAATGATAT 0.473000 39 71 0 0 0.000589545 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229475 140229475 + Silent SNP G G A rs17844330 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140229475G>A ENST00000378122.3 + 1 2119 c.1395G>A c.(1393-1395)aaG>aaA p.K465K PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.K465K|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCGTGAAGGAGAACAACC 0.662000 43 2 0 0 0.00195071 0 0 ZNF670 93474 broad.mit.edu 37 1 247201468 247201468 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247201468G>C ENST00000366503.2 - 4 611 c.453C>G c.(451-453)atC>atG p.I151M NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) TGGTGAGAGAGATAAAGGCTT 0.403000 86 47 0 0 0.000781405 0 0 CADPS2 93664 broad.mit.edu 37 7 122091457 122091457 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:122091457G>A ENST00000334010.7 - 14 2683 c.2262C>T c.(2260-2262)tcC>tcT p.S754S CADPS2_ENST00000412584.2_Silent_p.S750S|CADPS2_ENST00000313070.7_Silent_p.S750S|CADPS2_ENST00000449022.2_Silent_p.S753S NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 753 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TTTCTAAAAGGGAAGAGAGTC 0.303000 13 39 0 0 0.00185496 0 0 GPR123 84435 broad.mit.edu 37 10 134896174 134896174 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:134896174G>A ENST00000607359.1 + 6 1260 c.1260G>A c.(1258-1260)ctG>ctA p.L420L Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCCTTGGCCTGAGGTGGGCAT 0.622000 16 4 0 0 0.00074312 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74911427 74911427 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:74911427C>T ENST00000289575.5 + 11 2153 c.1758C>T c.(1756-1758)atC>atT p.I586I SLCO2B1_ENST00000532236.1_Silent_p.I470I|SLCO2B1_ENST00000428359.2_Silent_p.I564I|SLCO2B1_ENST00000531756.1_Silent_p.I331I|SLCO2B1_ENST00000525650.1_Silent_p.I442I|SLCO2B1_ENST00000341411.4_Silent_p.I359I|SLCO2B1_ENST00000454962.2_Silent_p.I359I NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 586 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) TCATGCTCATCCTAAGGTGAA 0.602000 24 75 0 0 0.00047179 0 0 MKRN2 23609 broad.mit.edu 37 3 12616298 12616298 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:12616298T>A ENST00000170447.7 + 5 787 c.650T>A c.(649-651)aTg>aAg p.M217K MKRN2_ENST00000448482.1_Missense_Mutation_p.M215K|MKRN2_ENST00000411987.1_Missense_Mutation_p.M174K NM_001271707.1|NM_014160.3 NP_001258636.1|NP_054879.3 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 217 Makorin-type Cys-His. intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 CAGATCTGCATGTTGACGTTC 0.547000 46 39 0 0 0.000781405 0 0 XKR3 150165 broad.mit.edu 37 22 17288923 17288923 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:17288923C>T ENST00000331428.5 - 2 143 c.41G>A c.(40-42)gGa>gAa p.G14E NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 14 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGAAACTCCTCCTGTGCTTTC 0.418000 28 80 0 0 0.0024448 0 0 SCAND3 114821 broad.mit.edu 37 6 28542428 28542428 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28542428C>T ENST00000452236.2 - 3 2671 c.2054G>A c.(2053-2055)gGa>gAa p.G685E NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 685 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TACCCAGTCTCCTACTTTGTC 0.398000 63 83 0 0 0.000781405 0 0 STX1B 112755 broad.mit.edu 37 16 31004166 31004166 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:31004166G>A ENST00000215095.5 - 10 1074 c.843C>T c.(841-843)tcC>tcT p.S281S STX1B_ENST00000565419.1_3'UTR NM_052874.3 NP_443106.1 P61266 STX1B_HUMAN syntaxin 1B 281 intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 TCCCCCCAATGGATGACGCCA 0.577000 15 42 0 0 0.000958276 0 0 USP37 57695 broad.mit.edu 37 2 219346947 219346947 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:219346947G>A ENST00000258399.3 - 17 2093 c.1681C>T c.(1681-1683)Ctc>Ttc p.L561F USP37_ENST00000418019.1_Missense_Mutation_p.L561F|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000415516.1_Missense_Mutation_p.L489F|USP37_ENST00000454775.1_Missense_Mutation_p.L561F NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 561 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TTCAAATGGAGAATGAGGACC 0.383000 19 51 0 0 0.00229938 0 0 PIWIL2 55124 broad.mit.edu 37 8 22147395 22147395 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:22147395G>A ENST00000356766.6 + 9 1170 c.1022G>A c.(1021-1023)aGa>aAa p.R341K PIWIL2_ENST00000521356.1_Missense_Mutation_p.R341K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R341K NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 341 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CTTGTGGGGAGAAACTTTTAT 0.338000 16 16 0 0 0.000422831 0 0 EPHA4 2043 broad.mit.edu 37 2 222436924 222436924 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:222436924C>T ENST00000281821.2 - 1 86 c.45G>A c.(43-45)ggG>ggA p.G15G EPHA4_ENST00000409938.1_Silent_p.G15G|EPHA4_ENST00000392071.4_5'UTR|EPHA4_ENST00000409854.1_Silent_p.G15G NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 15 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CGTCGCAAATCCCGAAGAGAC 0.572000 16 36 0 0 0.000566183 0 0 INPPL1 3636 broad.mit.edu 37 11 71948326 71948326 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:71948326C>T ENST00000298229.2 + 26 3242 c.3038C>T c.(3037-3039)aCc>aTc p.T1013I INPPL1_ENST00000538751.1_Missense_Mutation_p.T771I|INPPL1_ENST00000541756.1_Missense_Mutation_p.T771I NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1013 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CCATCTGCCACCAAGAACAAA 0.627000 40 91 0 0 0.00195071 0 0 KIFC1 3833 broad.mit.edu 37 6 33372875 33372875 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:33372875C>T ENST00000428849.2 + 7 1453 c.1003C>T c.(1003-1005)Ccc>Tcc p.P335S NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 335 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CCTCCTGTTTCCCTCTGGCCC 0.677000 54 72 0 0 0.000781405 0 0 SGK223 157285 broad.mit.edu 37 8 8234162 8234162 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:8234162G>A ENST00000520004.1 - 3 2021 c.1757C>T c.(1756-1758)cCa>cTa p.P586L SGK223_ENST00000330777.4_Missense_Mutation_p.P586L Q86YV5 SG223_HUMAN 586 ATP binding|non-membrane spanning protein tyrosine kinase activity ACCTTGGGATGGAGGCTGGGG 0.677000 17 10 0 0 0.00152264 0 0 DGKG 1608 broad.mit.edu 37 3 186024722 186024722 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:186024722C>T ENST00000265022.3 - 3 651 c.112G>A c.(112-114)Ggt>Agt p.G38S DGKG_ENST00000344484.4_Missense_Mutation_p.G38S|DGKG_ENST00000382164.4_Missense_Mutation_p.G38S|DGKG_ENST00000544847.1_Missense_Mutation_p.G38S NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 38 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.G38S(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AGGCTCCCACCCTCATTAAAT 0.393000 42 52 0 0 0.000781405 0 0 UBASH3A 53347 broad.mit.edu 37 21 43852252 43852252 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:43852252G>A ENST00000319294.6 + 9 1242 c.1211G>A c.(1210-1212)gGg>gAg p.G404E UBASH3A_ENST00000291535.6_Missense_Mutation_p.G366E|UBASH3A_ENST00000398367.1_Missense_Mutation_p.G366E NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 404 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GTTCGCCACGGGGAGAGAGTG 0.572000 6 16 0 0 0.00198382 0 0 MUC1 4582 broad.mit.edu 37 1 155160214 155160214 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:155160214C>T ENST00000368395.1 - 5 1136 c.1065G>A c.(1063-1065)acG>acA p.T355T MUC1_ENST00000338684.5_Silent_p.T104T|MUC1_ENST00000368390.3_Silent_p.T135T|MUC1_ENST00000438413.1_Silent_p.T109T|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000337604.5_Silent_p.T153T|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368393.3_Silent_p.T153T|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000457295.2_Silent_p.T144T|MUC1_ENST00000368398.3_Silent_p.T110T|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368392.3_Silent_p.T144T NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 1135 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGTCTGAGATCGTCAGGTTAT 0.552000 T IGH@ B-NHL 16 32 0 0 0.000958276 0 0 TMEM199 147007 broad.mit.edu 37 17 26687798 26687798 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:26687798C>T ENST00000292114.3 + 5 549 c.459C>T c.(457-459)ttC>ttT p.F153F TMEM199_ENST00000395404.3_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Silent_p.F153F NM_152464.1 NP_689677.1 Q8N511 TM199_HUMAN transmembrane protein 199 153 integral to membrane endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TCTTCAATTTCATTGTCACGG 0.502000 62 7 0 0 0.000781405 0 0 MAATS1 89876 broad.mit.edu 37 3 119434558 119434558 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:119434558C>T ENST00000273390.5 + 6 727 c.650C>T c.(649-651)cCt>cTt p.P217L MAATS1_ENST00000463700.1_Missense_Mutation_p.P217L NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GACTCAATCCCTGAGCTCTTG 0.473000 36 29 0 0 0.00111076 0 0 CCND3 896 broad.mit.edu 37 6 41904341 41904341 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:41904341C>T ENST00000511642.1 - 4 1175 c.424G>A c.(424-426)Gat>Aat p.D142N CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.D142N|CCND3_ENST00000414200.2_Missense_Mutation_p.D151N|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000372987.4_Missense_Mutation_p.D173N|CCND3_ENST00000372991.4_Missense_Mutation_p.D223N|CCND3_ENST00000415497.2_Missense_Mutation_p.D27N P30281 CCND3_HUMAN cyclin D3 223 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTGAGCTCATCCCCGGACATG 0.582000 T IGH@ MM OREG0017437 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 36 0 0 0.00121646 0 0 PER2 8864 broad.mit.edu 37 2 239186556 239186556 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:239186556G>A ENST00000254657.3 - 2 301 c.22C>T c.(22-24)Ccg>Tcg p.P8S PER2_ENST00000254658.3_Missense_Mutation_p.P8S|PER2_ENST00000355768.2_Missense_Mutation_p.P8S|PER2_ENST00000440245.1_Missense_Mutation_p.P8S NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 8 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGGCTGGGCGGAAATTCCGCG 0.607000 9 21 0 0 0.000442599 0 0 TK2 7084 broad.mit.edu 37 16 66565283 66565283 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:66565283C>T ENST00000299697.7 - 5 725 c.501_splice c.e5+1 p.Q167_splice TK2_ENST00000527800.1_Splice_Site_p.Q28_splice|TK2_ENST00000564917.1_Splice_Site_p.Q125_splice|TK2_ENST00000525974.1_Splice_Site_p.Q28_splice|TK2_ENST00000563369.2_Splice_Site_p.Q28_splice|TK2_ENST00000545043.2_Splice_Site_p.Q100_splice|TK2_ENST00000417693.3_Splice_Site_p.Q107_splice|TK2_ENST00000544898.1_Splice_Site_p.Q76_splice|TK2_ENST00000451102.2_Splice_Site_p.Q125_splice|TK2_ENST00000527284.1_Splice_Site_p.Q94_splice NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4 NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4 O00142 KITM_HUMAN thymidine kinase 2, mitochondrial 125 pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity large_intestine(1)|lung(2)|urinary_tract(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) TGAAACCTACCTGAGGACGAG 0.512000 5 25 0 0 0.000602214 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50655029 50655029 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:50655029C>T ENST00000446044.1 + 4 629 c.33C>T c.(31-33)ggC>ggT p.G11G MAPKAPK3_ENST00000357955.2_Silent_p.G11G NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 11 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGCAGGGGGGCCCTGTGCCCC 0.716000 25 8 0 0 0.000586117 0 0 ZNF330 27309 broad.mit.edu 37 4 142150761 142150761 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:142150761C>A ENST00000262990.4 + 6 556 c.328C>A c.(328-330)Cat>Aat p.H110N ZNF330_ENST00000421169.2_Missense_Mutation_p.H50N NM_014487.4 NP_055302.1 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 110 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(180;0.162) TTGGGTTTGCCATGGTAGGAA 0.463000 52 57 9.72345e-25 4.70219e-24 0.000781405 1 0 LRRN2 10446 broad.mit.edu 37 1 204588132 204588132 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:204588132G>A ENST00000367175.1 - 1 3201 c.989C>T c.(988-990)gCc>gTc p.A330V LRRN2_ENST00000367176.3_Missense_Mutation_p.A330V|LRRN2_ENST00000367177.3_Missense_Mutation_p.A330V O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 330 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GTGGTGGAAGGCGCGGGGGTG 0.607000 12 10 0 0 0.00136819 0 0 HHIPL2 79802 broad.mit.edu 37 1 222713516 222713516 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:222713516C>T ENST00000343410.6 - 4 1344 c.1286G>A c.(1285-1287)gGg>gAg p.G429E NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 429 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GATGGGGTCCCCTCGGTCCAC 0.577000 238 164 0 0 0.000781405 0 0 NBAS 51594 broad.mit.edu 37 2 15307360 15307360 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:15307360G>A ENST00000281513.5 - 52 6953 c.6928C>T c.(6928-6930)Cca>Tca p.P2310S NBAS_ENST00000441750.1_Missense_Mutation_p.P2190S NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 2310 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ACAATACGTGGATAGAAGGGA 0.547000 35 9 0 0 0.00058488 0 0 WSCD2 9671 broad.mit.edu 37 12 108604066 108604066 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:108604066G>A ENST00000332082.4 + 5 1484 c.666G>A c.(664-666)caG>caA p.Q222Q WSCD2_ENST00000261400.3_Silent_p.Q222Q|WSCD2_ENST00000547525.1_Silent_p.Q222Q|WSCD2_ENST00000549903.1_Silent_p.Q222Q Q2TBF2 WSCD2_HUMAN WSC domain containing 2 222 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 AGCTGGCCCAGGAGTCGGCCC 0.672000 3 4 0 0 0.00024832 0 0 SLC6A13 6540 broad.mit.edu 37 12 335680 335680 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:335680C>T ENST00000343164.4 - 9 988 c.935_splice c.e9-1 p.R312_splice SLC6A13_ENST00000445055.2_Splice_Site_p.R220_splice NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 312 Missing (in Ref. 1; AAF64247). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CGATGCAGTCCCTGTGGGGCA 0.637000 16 10 0 0 0.00121646 0 0 ZBTB46 140685 broad.mit.edu 37 20 62407158 62407158 + Silent SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62407158G>C ENST00000245663.4 - 3 1245 c.1095C>G c.(1093-1095)acC>acG p.T365T ZBTB46_ENST00000302995.2_Silent_p.T365T|ZBTB46_ENST00000395104.1_Silent_p.T365T NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) TGGCCACCGCGGTGGCCTGAT 0.652000 45 86 0 0 0.000781405 0 0 SCN11A 11280 broad.mit.edu 37 3 38888308 38888308 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38888308C>T ENST00000450244.1 - 26 5451 c.5253G>A c.(5251-5253)gtG>gtA p.V1751V SCN11A_ENST00000456224.3_Silent_p.V1713V|SCN11A_ENST00000302328.3_Silent_p.V1751V Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1751 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) cacccttggtcaccttCATCA 0.468000 80 40 0 0 0.000781405 0 0 FGFRL1 53834 broad.mit.edu 37 4 1018188 1018188 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:1018188G>A ENST00000398484.2 + 7 1388 c.808G>A c.(808-810)Gtg>Atg p.V270M FGFRL1_ENST00000504138.1_Missense_Mutation_p.V270M|FGFRL1_ENST00000264748.6_Missense_Mutation_p.V270M|FGFRL1_ENST00000510644.1_Missense_Mutation_p.V270M Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 270 Ig-like C2-type 3. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CCAGTGCAAGGTGCGCAGCGA 0.662000 17 35 0 0 0.00152264 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175222 193175222 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:193175222G>A ENST00000342695.4 - 15 2029 c.1707C>T c.(1705-1707)atC>atT p.I569I ATP13A4_ENST00000392443.3_Silent_p.I550I NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 569 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCACTCCCTTGATGTGGAAAT 0.463000 82 88 0 0 0.000781405 0 0 SF3B3 23450 broad.mit.edu 37 16 70588473 70588473 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:70588473C>T ENST00000302516.5 + 12 1738 c.1527C>T c.(1525-1527)tcC>tcT p.S509S NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 509 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TGTCCTGCTCCTTATTAGGAG 0.512000 29 21 0 0 0.00209593 0 0 ITFG3 83986 broad.mit.edu 37 16 304607 304607 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:304607C>T ENST00000399932.3 + 3 646 c.195C>T c.(193-195)gtC>gtT p.V65V ITFG3_ENST00000442458.2_Silent_p.V65V|ITFG3_ENST00000450082.2_Silent_p.V65V|ITFG3_ENST00000301678.3_Silent_p.V65V|ITFG3_ENST00000301679.2_Silent_p.V65V|ITFG3_ENST00000600536.1_Silent_p.V65V Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 65 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TGGTGTTCGTCGTCTCATTCG 0.597000 154 97 0 0 0.000781405 0 0 OR4K5 79317 broad.mit.edu 37 14 20388956 20388956 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:20388956G>A ENST00000315915.4 + 1 216 c.191G>A c.(190-192)gGa>gAa p.G64E NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTCTCTTGGGAAACCTTTCC 0.433000 88 139 0 0 0.000781405 0 0 NNT 23530 broad.mit.edu 37 5 43659398 43659398 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:43659398C>T ENST00000264663.5 + 17 2801 c.2580C>T c.(2578-2580)atC>atT p.I860I NNT_ENST00000344920.4_Silent_p.I860I|NNT_ENST00000512996.2_Silent_p.I729I NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 860 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TGCTGACCATCGTGGGTGCAC 0.507000 54 9 0 0 0.000781405 0 0 CA7 766 broad.mit.edu 37 16 66885423 66885423 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:66885423G>A ENST00000394069.3 + 4 678 c.247G>A c.(247-249)Gca>Aca p.A83T CA7_ENST00000338437.2_Missense_Mutation_p.A139T|RP11-61A14.1_ENST00000551187.1_RNA NM_001014435.1 NP_001014435.1 P43166 CAH7_HUMAN carbonic anhydrase VII 139 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GGCGGCCTCAGCACCTGATGG 0.587000 123 67 0 0 0.000781405 0 0 PEBP4 157310 broad.mit.edu 37 8 22675180 22675180 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:22675180G>A ENST00000256404.6 - 4 418 c.327C>T c.(325-327)ttC>ttT p.F109F PEBP4_ENST00000521284.1_5'UTR NM_144962.2 NP_659399.2 Q96S96 PEBP4_HUMAN phosphatidylethanolamine-binding protein 4 109 lysosome breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2) 10 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) AATGTCTCCAGAATCTCTGTC 0.483000 57 42 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9075414 9075414 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9075414G>A ENST00000397910.4 - 3 12235 c.12032C>T c.(12031-12033)tCc>tTc p.S4011F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4013 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCAAGAAGGAATTAGGCTC 0.478000 14 53 0 0 0.000566183 0 0 TTI1 9675 broad.mit.edu 37 20 36641847 36641847 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:36641847G>A ENST00000373448.2 - 3 610 c.372C>T c.(370-372)atC>atT p.I124I TTI1_ENST00000449821.1_Silent_p.I124I|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.I124I NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 124 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TAAGTCCCTGGATCACAGCCA 0.463000 72 120 0 0 0.000781405 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42833015 42833015 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:42833015C>T ENST00000314073.5 + 13 3247 c.3071C>T c.(3070-3072)cCc>cTc p.P1024L GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P1024L GLTSCR1-like GGACGGCAGCCCCAGAGTGAC 0.512000 38 67 0 0 0.00195071 0 0 TRAK1 22906 broad.mit.edu 37 3 42251704 42251704 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:42251704C>T ENST00000341421.3 + 13 2209 c.2016C>T c.(2014-2016)atC>atT p.I672I TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000327628.5_Intron NM_001265608.1|NM_014965.4 NP_001252537.1|NP_055780.2 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 533 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CAGGCACCATCCGTAGTGGTT 0.502000 161 104 0 0 0.000781405 0 0 ROS1 6098 broad.mit.edu 37 6 117658463 117658463 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:117658463C>T ENST00000368508.3 - 31 5318 c.5120G>A c.(5119-5121)aGc>aAc p.S1707N GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S1701N NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1707 Fibronectin type-III 8. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGACCTTGGCTGCATGAAGT 0.323000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 39 6 0 0 0.000680045 0 0 MROH5 389690 broad.mit.edu 37 8 142486025 142486025 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:142486025C>T ENST00000430863.1 - 0 1748 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CACAGCAAACCTGTAGGTGCT 0.577000 6 18 0 0 0.00116845 0 0 LPAL2 80350 broad.mit.edu 37 6 160908435 160908435 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:160908435G>A ENST00000335388.5 - 0 537 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CGAACAATCCGGATTCCTGCA 0.493000 18 4 0 0 0.000958276 0 0 RGL1 23179 broad.mit.edu 37 1 183857695 183857695 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:183857695T>C ENST00000304685.3 + 9 1605 c.1144T>C c.(1144-1146)Tgg>Cgg p.W382R RGL1_ENST00000360851.3_Missense_Mutation_p.W347R|RGL1_ENST00000367531.1_Missense_Mutation_p.W382R|RGL1_ENST00000539189.1_Missense_Mutation_p.W347R|RGL1_ENST00000536277.1_Missense_Mutation_p.W345R NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 347 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 AAAAAAGACTTGGGCTGCCGT 0.468000 30 83 0 0 0.00106085 0 0 DOCK2 1794 broad.mit.edu 37 5 169116293 169116293 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:169116293C>T ENST00000256935.8 + 9 879 c.799C>T c.(799-801)Cct>Tct p.P267S NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 267 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCGGGGCTTCCCTAAGGAGAT 0.522000 26 21 0 0 0.00058488 0 0 PAPSS1 9061 broad.mit.edu 37 4 108552847 108552847 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:108552847G>A ENST00000265174.4 - 11 1948 c.1676C>T c.(1675-1677)cCc>cTc p.P559L NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 559 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) AACTCGAAAGGGAACTATTTC 0.428000 18 33 0 0 0.000958276 0 0 NME8 51314 broad.mit.edu 37 7 37916593 37916593 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:37916593C>T ENST00000199447.4 + 12 1350 c.978C>T c.(976-978)ctC>ctT p.L326L NME8_ENST00000440017.1_Silent_p.L326L|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 326 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GACCAAATCTCTTTCATGAAA 0.303000 24 30 0 0 0.00127121 0 0 IL17RC 84818 broad.mit.edu 37 3 9962213 9962213 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:9962213G>A ENST00000295981.3 + 6 935 c.717G>A c.(715-717)ggG>ggA p.G239G IL17RC_ENST00000416074.2_Silent_p.G39G|IL17RC_ENST00000403601.3_Silent_p.G168G|IL17RC_ENST00000455057.1_Silent_p.G168G|IL17RC_ENST00000413608.1_Silent_p.G168G|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.G168G NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 239 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CTGCCCTAGGGAGTGAGGTAC 0.597000 6 3 0 0 0.000157383 0 0 GPR139 124274 broad.mit.edu 37 16 20043243 20043243 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20043243G>A ENST00000570682.1 - 2 1176 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 292 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CCATGGTGCGGAACCGCTTGC 0.507000 67 54 0 0 0.000781405 0 0 IGLV2-33 28811 broad.mit.edu 37 22 22931119 22931119 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:22931119C>T ENST00000390302.2 + 0 372 GAGGTTGAGGCTAATTATCAC 0.507000 49 146 0 0 0.000781405 0 0 SSFA2 6744 broad.mit.edu 37 2 182783380 182783380 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:182783380C>T ENST00000431877.2 + 12 3022 c.2843C>T c.(2842-2844)tCa>tTa p.S948L SSFA2_ENST00000320370.7_Missense_Mutation_p.S948L|SSFA2_ENST00000428267.2_Missense_Mutation_p.S795L|SSFA2_ENST00000409001.1_Missense_Mutation_p.S948L|SSFA2_ENST00000409136.1_Missense_Mutation_p.S457L NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 948 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ACTCAGAAATCATCTGTTCTA 0.313000 30 62 0 0 0.000692331 0 0 FAM135B 51059 broad.mit.edu 37 8 139323149 139323149 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139323149C>T ENST00000395297.1 - 3 262 c.92G>A c.(91-93)cGa>cAa p.R31Q NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 31 p.R31L(4) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAAGGTCACTCGGATCTGGTA 0.493000 HNSCC(54;0.14) 31 60 0 0 0.00178596 0 0 UPK1A 11045 broad.mit.edu 37 19 36168744 36168744 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36168744G>A ENST00000222275.2 + 6 679 c.679G>A c.(679-681)Gac>Aac p.D227N UPK1A_ENST00000379013.2_Silent_p.S259S NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 227 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCACGCCATCGACAGCTACAC 0.637000 6 16 0 0 0.00198382 0 0 LIG1 3978 broad.mit.edu 37 19 48620929 48620929 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:48620929G>A ENST00000263274.7 - 26 2968 c.2549C>T c.(2548-2550)tCc>tTc p.S850F LIG1_ENST00000536218.1_Missense_Mutation_p.S782F|LIG1_ENST00000427526.2_Missense_Mutation_p.S819F NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 850 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GGGAGAGAGGGAGAGGTCAGC 0.662000 Nucleotide excision repair (NER) 5 16 0 0 0.000602214 0 0 ATP2A3 489 broad.mit.edu 37 17 3853997 3853997 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:3853997G>A ENST00000309890.7 - 6 684 c.534C>T c.(532-534)tcC>tcT p.S178S ATP2A3_ENST00000397043.3_Silent_p.S178S|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.S178S|ATP2A3_ENST00000397041.3_Silent_p.S178S|ATP2A3_ENST00000359983.3_Silent_p.S178S|ATP2A3_ENST00000397035.3_Silent_p.S178S NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 178 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CCGTCAGGATGGACTGGTCCA 0.627000 17 96 0 0 0.00188189 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131897829 131897829 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:131897829C>T ENST00000439822.2 + 5 485 c.380C>T c.(379-381)cCt>cTt p.P127L PLEKHB2_ENST00000409612.1_Silent_p.P171P|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000234115.6_Silent_p.P170P|PLEKHB2_ENST00000403716.1_Silent_p.P171P|PLEKHB2_ENST00000538982.1_Silent_p.P123P|PLEKHB2_ENST00000409158.1_Silent_p.P179P|PLEKHB2_ENST00000409279.1_Silent_p.P171P|PLEKHB2_ENST00000438882.2_Intron NM_001267068.1 NP_001253997.1 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 0 membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) ATGCCGTGCCCTACCAGTACC 0.502000 18 15 0 0 0.00121646 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713214 142713214 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:142713214G>A ENST00000369381.2 - 0 1391 CTTTCCAGTGGAATTATTCAC 0.388000 40 26 0 0 0.00148497 0 0 CHTF18 63922 broad.mit.edu 37 16 846795 846795 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:846795C>T ENST00000317063.6 + 21 3162 c.3162C>T c.(3160-3162)gcC>gcT p.A1054A CHTF18_ENST00000455171.2_Silent_p.A873A|CHTF18_ENST00000262315.9_Silent_p.A845A Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 845 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) AGCTCATCGCCCGCGAGATCG 0.662000 12 16 0 0 0.00229938 0 0 GGPS1 9453 broad.mit.edu 37 1 235505825 235505825 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:235505825C>T ENST00000282841.5 + 4 873 c.641C>T c.(640-642)tCa>tTa p.S214L GGPS1_ENST00000488594.1_Missense_Mutation_p.S214L|GGPS1_ENST00000358966.2_Missense_Mutation_p.S214L|GGPS1_ENST00000391855.2_Missense_Mutation_p.S160L|GGPS1_ENST00000476121.1_Missense_Mutation_p.S214L O95749 GGPPS_HUMAN geranylgeranyl diphosphate synthase 1 214 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;1.39e-05) GGAAAGTTCTCATTTCCTACT 0.368000 17 51 0 0 0.00152264 0 0 OVGP1 5016 broad.mit.edu 37 1 111957394 111957394 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:111957394G>A ENST00000369732.3 - 11 1784 c.1729C>T c.(1729-1731)Ccc>Tcc p.P577S NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 577 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) TTTCTGGAGGGGACAGTCACC 0.517000 88 49 0 0 0.000781405 0 0 CACNA1A 773 broad.mit.edu 37 19 13476261 13476261 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:13476261C>T ENST00000360228.5 - 5 653 c.654G>A c.(652-654)tcG>tcA p.S218S CACNA1A_ENST00000573710.2_Silent_p.S218S NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 218 S -> L (in FHM1; dbSNP:rs121908225). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCTTCATGATCGACTTCAGGA 0.493000 16 29 0 0 0.000958276 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673474 141673474 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141673474G>A ENST00000547270.1 - 1 99 c.16C>T c.(16-18)Cgc>Tgc p.R6C NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 6 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GTGCGGATGCGAGTTAGAGTC 0.448000 18 99 0 0 0.00074312 0 0 OBSCN 84033 broad.mit.edu 37 1 228475871 228475871 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228475871G>A ENST00000570156.2 + 42 11282 c.11208G>A c.(11206-11208)aaG>aaA p.K3736K OBSCN_ENST00000284548.11_Silent_p.K3307K|OBSCN_ENST00000359599.6_Silent_p.K2154K|OBSCN_ENST00000422127.1_Silent_p.K3307K|OBSCN_ENST00000366707.4_Silent_p.K426K|OBSCN_ENST00000366709.4_Silent_p.K426K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2772 Ig-like 38. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGTGGAGAAAGGGGTCCGAGA 0.632000 30 71 0 0 0.000491102 0 0 ECT2 1894 broad.mit.edu 37 3 172482202 172482202 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:172482202C>T ENST00000417960.1 + 12 1584 c.1107C>T c.(1105-1107)ccC>ccT p.P369P ECT2_ENST00000540509.1_Silent_p.P401P|ECT2_ENST00000392692.3_Silent_p.P401P|ECT2_ENST00000441497.2_Silent_p.P370P|ECT2_ENST00000232458.5_Silent_p.P370P|ECT2_ENST00000427830.1_Silent_p.P370P NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 370 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CATTTCCACCCCGTAAGCGCC 0.453000 33 53 0 0 0.000491102 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8657694 8657694 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:8657694G>A ENST00000270328.4 - 12 1806 c.1540C>T c.(1540-1542)Ccg>Tcg p.P514S ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P514S Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 514 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TCGGCGGCCGGGATGCTGTTG 0.716000 31 39 0 0 0.00058488 0 0 TLR4 7099 broad.mit.edu 37 9 120475851 120475851 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:120475851C>T ENST00000355622.6 + 3 1546 c.1445C>T c.(1444-1446)tCt>tTt p.S482F TLR4_ENST00000394487.4_Missense_Mutation_p.S442F|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 482 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GCTGGCAATTCTTTCCAGGAA 0.448000 49 6 0 0 0.000781405 0 0 PLBD2 196463 broad.mit.edu 37 12 113824828 113824828 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:113824828G>A ENST00000280800.3 + 10 1404 c.1373G>A c.(1372-1374)cGg>cAg p.R458Q PLBD2_ENST00000545182.2_Missense_Mutation_p.R426Q NM_173542.3 NP_775813.2 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 458 lipid catabolic process lysosomal lumen hydrolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 GGGAGCCCCCGGGCCCAGATC 0.607000 39 41 0 0 0.00222228 0 0 EPHA1 2041 broad.mit.edu 37 7 143095808 143095808 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143095808C>T ENST00000275815.3 - 6 1308 c.1222G>A c.(1222-1224)Ggc>Agc p.G408S NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 408 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GGTTCAAGGCCATTGACATGC 0.632000 35 61 0 0 0.000953801 0 0 FCGBP 8857 broad.mit.edu 37 19 40392521 40392521 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:40392521G>A ENST00000221347.6 - 16 7990 c.7983C>T c.(7981-7983)ttC>ttT p.F2661F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2661 VWFD 6. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGAGCCCACAGAACTCCTCCT 0.632000 5 20 0 0 0.00116845 0 0 ZIM3 114026 broad.mit.edu 37 19 57646552 57646552 + Missense_Mutation SNP G G A rs150510557 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57646552G>A ENST00000269834.1 - 5 1538 c.1153C>T c.(1153-1155)Cat>Tat p.H385Y NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H385Y(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCCCAGTATGGATTTTTTTA 0.393000 25 149 0 0 0.00047179 0 0 WFDC10B 280664 broad.mit.edu 37 20 44313538 44313538 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:44313538G>A ENST00000330523.5 - 4 383 c.153C>T c.(151-153)ttC>ttT p.F51F WFDC10B_ENST00000335769.2_Silent_p.F67F NM_172006.2 NP_742003.1 Q8IUB3 WF10B_HUMAN WAP four-disulfide core domain 10B 51 WAP. extracellular region peptidase inhibitor activity lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) CACACTTTTGGAAATATGAAC 0.463000 82 54 0 0 0.000781405 0 0 EPG5 57724 broad.mit.edu 37 18 43535255 43535255 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:43535255G>A ENST00000282041.5 - 2 147 c.113C>T c.(112-114)tCc>tTc p.S38F NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 38 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TTTTGGAAGGGAGACTTCACT 0.398000 42 29 0 0 0.000680045 0 0 CHIA 27159 broad.mit.edu 37 1 111861282 111861282 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:111861282G>A ENST00000369740.1 + 9 1000 c.897G>A c.(895-897)ggG>ggA p.G299G RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Silent_p.G138G|CHIA_ENST00000430615.1_Silent_p.G191G|CHIA_ENST00000343320.6_Silent_p.G299G|CHIA_ENST00000451398.2_Silent_p.G138G|CHIA_ENST00000483391.1_Silent_p.G138G NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 299 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) AGGAGTCTGGGATCTGGGCTT 0.517000 23 117 0 0 0.000375601 0 0 DESI1 27351 broad.mit.edu 37 22 42003275 42003275 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:42003275G>A ENST00000263256.6 - 3 427 c.171C>T c.(169-171)agC>agT p.S57S NM_015704.2 NP_056519.1 Q6ICB0 PPDE2_HUMAN desumoylating isopeptidase 1 57 PPPDE peptidase. CCGGGGGGCAGCTGGAGATAC 0.527000 32 22 0 0 0.000491102 0 0 OR2A2 442361 broad.mit.edu 37 7 143807053 143807053 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143807053C>T ENST00000408979.2 + 1 447 c.378C>T c.(376-378)tgC>tgT p.C126C NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TGGCCATCTGCCACCCTTTCC 0.473000 34 120 0 0 0.0024448 0 0 DNAH3 55567 broad.mit.edu 37 16 21008666 21008666 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:21008666G>A ENST00000261383.3 - 44 6539 c.6540C>T c.(6538-6540)atC>atT p.I2180I DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2180 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCATGTCCACGATGTCCAGCC 0.552000 21 55 0 0 0.00152264 0 0 NLRP8 126205 broad.mit.edu 37 19 56466362 56466362 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56466362C>T ENST00000291971.3 + 3 1009 c.938C>T c.(937-939)tCt>tTt p.S313F NLRP8_ENST00000590542.1_Missense_Mutation_p.S313F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 313 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGCCTGGGTCTGTCCTACTG 0.507000 94 47 0 0 0.000781405 0 0 CCDC91 55297 broad.mit.edu 37 12 28412319 28412319 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:28412319G>A ENST00000545336.1 + 6 472 c.53G>A c.(52-54)gGa>gAa p.G18E CCDC91_ENST00000381256.1_Missense_Mutation_p.G18E|CCDC91_ENST00000539107.1_Missense_Mutation_p.G18E|CCDC91_ENST00000381259.1_Missense_Mutation_p.G18E Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 18 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) TTTGATGGTGGAAGTGGTGAA 0.398000 26 53 0 0 0.0024448 0 0 RSU1P2 100133308 broad.mit.edu 37 10 45602574 45602574 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:45602574C>T ENST00000423875.1 - 0 862 GGCATGGAACCCAACCATTTG 0.433000 6 7 0 0 0.00116845 0 0 ARRDC4 91947 broad.mit.edu 37 15 98512549 98512549 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:98512549C>T ENST00000268042.6 + 5 986 c.822C>T c.(820-822)atC>atT p.I274I ARRDC4_ENST00000538249.1_Silent_p.I187I NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 274 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) CGCTAAAAATCCCACCTGTTA 0.433000 37 24 0 0 0.00128727 0 0 RP11-44F14.1 0 broad.mit.edu 37 16 53404789 53404789 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:53404789C>T ENST00000565421.1 - 0 252 TTCCAATTTGCTGATATCAAA 0.413000 9 33 0 0 0.000442599 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287225 29287225 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:29287225G>A ENST00000266943.6 - 3 1021 c.652C>T c.(652-654)Ctc>Ttc p.L218F SLC46A3_ENST00000380814.4_Missense_Mutation_p.L218F NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 218 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) GGATCTCCGAGAAAAAATAAA 0.338000 24 20 0 0 0.00047179 0 0 MTCH2 23788 broad.mit.edu 37 11 47656245 47656245 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:47656245G>A ENST00000302503.3 - 5 505 c.348C>T c.(346-348)tcC>tcT p.S116S MTCH2_ENST00000542981.1_5'UTR NM_014342.3 NP_055157.1 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 116 transport integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 CGTGGTCAAAGGAAGATGAGA 0.363000 8 29 0 0 0.000978159 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921509 12921509 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:12921509C>T ENST00000240189.2 + 4 1387 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 434 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACCCCACTTCGGGCTGAGCT 0.557000 86 18 0 0 0.000781405 0 0 CPAMD8 27151 broad.mit.edu 37 19 17039796 17039796 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:17039796C>T ENST00000443236.1 - 24 3272 c.3241G>A c.(3241-3243)Gaa>Aaa p.E1081K NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1034 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTTCTGAATTCATCCCAGGAG 0.562000 17 39 0 0 0.00121646 0 0 TMEM230 29058 broad.mit.edu 37 20 5081503 5081503 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:5081503G>A ENST00000379286.2 - 5 717 c.297C>T c.(295-297)atC>atT p.I99I TMEM230_ENST00000379283.2_Silent_p.I99I|TMEM230_ENST00000342308.5_Silent_p.I162I|TMEM230_ENST00000379277.2_Silent_p.I99I|TMEM230_ENST00000379279.2_Silent_p.I99I|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000202834.7_Silent_p.I99I NM_001009924.1 NP_001009924.1 Q96A57 CT030_HUMAN transmembrane protein 230 99 integral to membrane CATAGTAAGCGATGCGCAGGT 0.537000 OREG0025754 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 88 0 0 0.00198382 0 0 NPAP1 23742 broad.mit.edu 37 15 24923694 24923694 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:24923694G>A ENST00000329468.2 + 1 3154 c.2680G>A c.(2680-2682)Gga>Aga p.G894R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTTAAATACAGGATCCATCTC 0.502000 87 84 0 0 0.000781405 0 0 STAB2 55576 broad.mit.edu 37 12 104099426 104099426 + Missense_Mutation SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:104099426G>T ENST00000388887.2 + 37 4121 c.3917G>T c.(3916-3918)aGa>aTa p.R1306I NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1306 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GAGAAGAGGAGATGCATCTAT 0.413000 18 17 1.33834e-09 6.41261e-09 0.000958276 1 0 OR2M3 127062 broad.mit.edu 37 1 248366863 248366863 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:248366863C>T ENST00000456743.1 + 1 532 c.494C>T c.(493-495)tCc>tTc p.S165F NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCAACATTTTCCTTCTCCTAC 0.433000 90 61 0 0 0.000781405 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784509 15784509 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:15784509G>A ENST00000550308.1 + 2 550 c.170G>A c.(169-171)cGg>cAg p.R57Q CYP4F12_ENST00000324632.9_Missense_Mutation_p.R57Q NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCCCCAAAACGGAACTGGTTT 0.587000 73 40 0 0 0.000781405 0 0 CASC5 57082 broad.mit.edu 37 15 40902456 40902456 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:40902456G>A ENST00000346991.5 + 6 601 c.211G>A c.(211-213)Gag>Aag p.E71K CASC5_ENST00000527044.1_Missense_Mutation_p.E71K|CASC5_ENST00000399668.2_Missense_Mutation_p.E71K Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 71 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) ATTCCAGACGGAGTCTCATAT 0.308000 45 57 0 0 0.000781405 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050499 110050499 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:110050499C>T ENST00000369864.4 - 2 1385 c.1036G>A c.(1036-1038)Gag>Aag p.E346K AMIGO1_ENST00000369862.1_Missense_Mutation_p.E346K Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 346 Ig-like C2-type. axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) TTGAAAGTCTCTCCCATGGCA 0.512000 53 28 0 0 0.000781405 0 0 TRAV13-2 28670 broad.mit.edu 37 14 22386477 22386477 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:22386477G>A ENST00000390439.2 + 0 115 GGCTGCAGCTGGACTGTAAGT 0.408000 68 45 0 0 0.000781405 0 0 TJP3 27134 broad.mit.edu 37 19 3733819 3733819 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3733819G>A ENST00000541714.2 + 7 1248 c.786G>A c.(784-786)ggG>ggA p.G262G TJP3_ENST00000262968.9_Silent_p.G281G|TJP3_ENST00000539908.2_Silent_p.G226G|TJP3_ENST00000589378.1_Silent_p.G271G|TJP3_ENST00000382008.3_Silent_p.G262G|TJP3_ENST00000587686.1_Silent_p.G281G NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 262 PDZ 2. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) AGTCAGAAGGGAAGCTAAGCC 0.562000 44 77 0 0 0.00170553 0 0 CHRM5 1133 broad.mit.edu 37 15 34356068 34356068 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34356068G>A ENST00000383263.5 + 3 1820 c.1150G>A c.(1150-1152)Gtg>Atg p.V384M CHRM5_ENST00000557872.1_Missense_Mutation_p.V384M NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 384 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GTTCCGATTGGTGGTAAAAGC 0.493000 46 49 0 0 0.000680045 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489581 133489581 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:133489581G>A ENST00000409261.1 - 17 5545 c.5172C>T c.(5170-5172)acC>acT p.T1724T NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000317721.6_Silent_p.T1724T|NCKAP5_ENST00000409213.1_Silent_p.T405T|NCKAP5_ENST00000405974.3_Silent_p.T405T NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1724 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGAGTGGAAAGGTTCCGATCC 0.532000 18 21 0 0 0.00074312 0 0 MKL2 57496 broad.mit.edu 37 16 14334138 14334138 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:14334138G>A ENST00000571589.1 + 10 1048 c.876G>A c.(874-876)aaG>aaA p.K292K MKL2_ENST00000341243.5_Silent_p.K281K|MKL2_ENST00000574045.1_Silent_p.K292K|MKL2_ENST00000318282.5_Silent_p.K292K|MKL2_ENST00000573051.1_Silent_p.K241K|MKL2_ENST00000572567.1_Silent_p.K281K NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 281 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTAGCAAAAAGTGCAAAGATC 0.383000 50 20 0 0 0.000781405 0 0 TIAM1 7074 broad.mit.edu 37 21 32582379 32582379 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:32582379G>A ENST00000286827.3 - 12 2841 c.2370C>T c.(2368-2370)acC>acT p.T790T TIAM1_ENST00000541036.1_Silent_p.T765T NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 790 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TCAGCTCCAGGGTGTCCCGTG 0.532000 28 24 0 0 0.001512 0 0 NLRC3 197358 broad.mit.edu 37 16 3613900 3613900 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3613900C>T ENST00000301749.7 - 0 1443 NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGGGCCCCGTCCTGCTGCGCC 0.662000 33 13 0 0 0.000814825 0 0 APOB 338 broad.mit.edu 37 2 21233797 21233797 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:21233797C>T ENST00000233242.1 - 26 6070 c.5943G>A c.(5941-5943)tgG>tgA p.W1981* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1981 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCTTGAGTTTCCAGGTGCCTG 0.468000 386 241 0 0 0.000781405 0 0 ABCC6 368 broad.mit.edu 37 16 16284023 16284023 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:16284023G>A ENST00000205557.7 - 12 1662 c.1633C>T c.(1633-1635)Ctg>Ttg p.L545L ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 545 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GACGTCACCAGAAATGTAGAC 0.632000 19 31 0 0 0.00229938 0 0 DCP2 167227 broad.mit.edu 37 5 112339742 112339742 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:112339742C>T ENST00000389063.2 + 8 1108 c.910C>T c.(910-912)Cat>Tat p.H304Y DCP2_ENST00000515408.1_Missense_Mutation_p.H304Y|DCP2_ENST00000543319.1_Missense_Mutation_p.H93Y NM_152624.5 NP_689837.2 Q8IU60 DCP2_HUMAN decapping mRNA 2 304 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) ATATAATAATCATTCTGAAAT 0.388000 12 27 0 0 0.00185496 0 0 SUPT6H 6830 broad.mit.edu 37 17 27015132 27015132 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:27015132G>A ENST00000314616.6 + 24 3313 c.3030G>A c.(3028-3030)cgG>cgA p.R1010R SUPT6H_ENST00000347486.4_Silent_p.R1010R NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1010 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) ACAACACCCGGCTCGAGAGCC 0.592000 48 3 0 0 0.000781405 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97397094 97397094 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:97397094G>A ENST00000371224.2 - 4 540 c.403C>T c.(403-405)Cag>Tag p.Q135* ALDH18A1_ENST00000371221.3_Nonsense_Mutation_p.Q135*|ALDH18A1_ENST00000483788.1_5'UTR NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 135 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) CGCACGCTCTGAGACAGAAGG 0.552000 6 45 0 0 0.00198382 0 0 RNF103 7844 broad.mit.edu 37 2 86831597 86831597 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:86831597A>T ENST00000237455.4 - 4 2395 c.1427T>A c.(1426-1428)tTt>tAt p.F476Y AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 476 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 TTCTACAGGAAAGTTCTGAAA 0.433000 36 40 0 0 0.000491102 0 0 C2 717 broad.mit.edu 37 6 31902149 31902149 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31902149C>T ENST00000418949.2 + 6 972 c.922C>T c.(922-924)Ctc>Ttc p.L308F C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000299367.5_Intron complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) CCTTCCCCTCCTCAGAACCCC 0.493000 36 52 0 0 0.000692331 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657351 46657351 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:46657351C>A ENST00000253255.5 - 1 1868 c.1869G>T c.(1867-1869)ttG>ttT p.L623F NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 623 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ACTGAGGCCCCAAGTACAGGA 0.448000 7 132 0.00198382 0.00936454 0.00198382 1 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251634 24251634 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:24251634G>A ENST00000538205.1 + 5 647 c.100G>A c.(100-102)Gaa>Aaa p.E34K ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.E113K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.E34K NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 113 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CAGAGGAGAGGAAATTACCAC 0.453000 8 14 0 0 0.000157383 0 0 C20orf112 140688 broad.mit.edu 37 20 31044121 31044121 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:31044121C>A ENST00000359676.5 - 3 329 c.187G>T c.(187-189)Gac>Tac p.D63Y C20orf112_ENST00000475781.1_5'UTR NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 63 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 AAGGCAGGGTCGCCCTGCGTG 0.642000 20 50 9.7654e-05 0.000464029 0.000958276 1 0 LHFP 10186 broad.mit.edu 37 13 39918104 39918104 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:39918104G>A ENST00000379589.3 - 4 1034 c.572C>T c.(571-573)tCg>tTg p.S191L NM_005780.2 NP_005771.1 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner 191 integral to membrane DNA binding HMGA2/LHFP(2) breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) TTTCTTGCCCGAAAAGCAAGC 0.557000 T HMGA2 lipoma 25 63 0 0 0.000720815 0 0 EHD1 10938 broad.mit.edu 37 11 64645688 64645688 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64645688G>A ENST00000320631.3 - 1 503 c.249C>T c.(247-249)ttC>ttT p.F83F EHD1_ENST00000359393.2_Silent_p.F83F NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 83 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 GCATCCCCGGGAAGTCCTGCT 0.657000 34 22 0 0 0.000692331 0 0 PLCH2 9651 broad.mit.edu 37 1 2421304 2421304 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:2421304G>A ENST00000449969.1 + 10 1593 c.1432G>A c.(1432-1434)Gat>Aat p.D478N PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D505N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.D505N|PLCH2_ENST00000378486.3_Missense_Mutation_p.D505N O75038 PLCH2_HUMAN phospholipase C, eta 2 505 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CCTCAATGGGGATGTGAGTCG 0.592000 50 26 0 0 0.000781405 0 0 RIMS2 9699 broad.mit.edu 37 8 105257214 105257214 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:105257214G>A ENST00000507740.1 + 18 3083 c.2847G>A c.(2845-2847)agG>agA p.R949R RIMS2_ENST00000436393.2_Silent_p.R1153R|RIMS2_ENST00000406091.3_Silent_p.R1135R|RIMS2_ENST00000262231.10_Silent_p.R974R|RIMS2_ENST00000339750.2_Silent_p.R71R NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1197 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGAAATGAGGAACTGGATGA 0.473000 HNSCC(12;0.0054) 113 86 0 0 0.000781405 0 0 COL7A1 1294 broad.mit.edu 37 3 48614144 48614144 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:48614144G>A ENST00000328333.8 - 67 5772 c.5665C>T c.(5665-5667)Cca>Tca p.P1889S COL7A1_ENST00000454817.1_Intron NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1889 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGAGGCCTGGAGGCCCCTGG 0.612000 16 0 0 0 0.00074312 0 0 SORBS1 10580 broad.mit.edu 37 10 97111052 97111052 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:97111052G>A ENST00000371247.2 - 25 2485 c.2296C>T c.(2296-2298)Ccg>Tcg p.P766S SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371239.1_Missense_Mutation_p.P543S|SORBS1_ENST00000306402.6_Missense_Mutation_p.P513S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P617S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P788S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P736S|SORBS1_ENST00000371245.3_Missense_Mutation_p.P617S|SORBS1_ENST00000607232.1_Missense_Mutation_p.P1026S|SORBS1_ENST00000371227.4_Missense_Mutation_p.P720S|SORBS1_ENST00000347291.4_Missense_Mutation_p.P578S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P766S|SORBS1_ENST00000371246.2_Missense_Mutation_p.P788S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000393949.1_Missense_Mutation_p.P736S Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 766 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TGGTGCGTCGGAATGACGCCT 0.468000 43 7 0 0 0.000680045 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786742 121786742 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:121786742C>T ENST00000261367.7 + 12 3769 c.2341C>T c.(2341-2343)Cct>Tct p.P781S SNCAIP_ENST00000379536.2_Missense_Mutation_p.P674S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P336S|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P292S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P734S|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P368S|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P781S Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 734 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ACGCAGGTTTCCTTTCAGCAT 0.547000 34 14 0 0 0.000491102 0 0 BZRAP1 9256 broad.mit.edu 37 17 56405038 56405038 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56405038C>T ENST00000355701.3 - 1 1114 c.244G>A c.(244-246)Gct>Act p.A82T BZRAP1_ENST00000268893.6_Missense_Mutation_p.A82T|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A82T NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 82 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCAGACAAGCCTCTGCTCCT 0.607000 32 24 0 0 0.001512 0 0 SETDB2 83852 broad.mit.edu 37 13 50062521 50062521 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:50062521C>T ENST00000354234.4 + 12 2578 c.1672C>T c.(1672-1674)Cca>Tca p.P558S SETDB2_ENST00000317257.8_Missense_Mutation_p.P570S NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 570 SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) AGAAACTCCACCAAGGAGCAG 0.378000 37 66 0 0 0.00148497 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711711 155711711 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:155711711C>T ENST00000295101.2 + 3 1869 c.1392C>T c.(1390-1392)agC>agT p.S464S NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 464 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ATCCCATGAGCCAGTCTGTGG 0.448000 36 30 0 0 0.00111076 0 0 TSIX 9383 broad.mit.edu 37 X 73046552 73046552 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:73046552C>T ENST00000604411.1 + 0 34513 XIST_ENST00000429829.1_lincRNA NR_003255.2 CTCCAGATTCCGGCCGTTAGT 0.507000 49 8 0 0 0.000781405 0 0 BRMS1 25855 broad.mit.edu 37 11 66105737 66105737 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:66105737G>A ENST00000359957.3 - 9 870 c.710C>T c.(709-711)tCc>tTc p.S237F BRMS1_ENST00000425825.2_Missense_Mutation_p.S237F|RP11-867G23.12_ENST00000526655.1_RNA NM_015399.3 NP_056214.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 237 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CTTCTGAGGGGACACAGCTGC 0.592000 6 5 0 0 0.00116845 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76486500 76486500 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:76486500G>A ENST00000307431.8 + 9 1549 c.1164G>A c.(1162-1164)gaG>gaA p.E388E CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.E340E|CNTNAP4_ENST00000478060.1_Silent_p.E316E|CNTNAP4_ENST00000476707.1_Silent_p.E392E NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 389 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TCTCTGGAGAGGAGGAGGTTT 0.463000 16 74 0 0 0.000422831 0 0 SAMD7 344658 broad.mit.edu 37 3 169644765 169644765 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:169644765G>A ENST00000428432.2 + 6 1104 c.715G>A c.(715-717)Gaa>Aaa p.E239K SAMD7_ENST00000335556.3_Missense_Mutation_p.E239K NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 239 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GAAGTCAAGTGAAACGAATGA 0.493000 22 51 0 0 0.000375601 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676170 37676170 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37676170G>A ENST00000532828.2 - 5 2520 c.2269C>T c.(2269-2271)Cag>Tag p.Q757* ZNF585B_ENST00000531805.1_Nonsense_Mutation_p.Q702*|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Nonsense_Mutation_p.Q345* NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 757 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTGATTTCTGAACGAAGCCT 0.483000 25 38 0 0 0.00178596 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455191 187455191 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:187455191C>T ENST00000307161.5 - 2 906 c.705G>A c.(703-705)agG>agA p.R235R RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 235 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TGACAAAATTCCTGAAGTCCT 0.502000 29 14 0 0 0.00178596 0 0 IGLC7 28834 broad.mit.edu 37 22 23264834 23264834 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:23264834G>A ENST00000390331.1 + 0 69 AGCCAACAAGGCCACACTGGT 0.632000 26 47 0 0 0.00106085 0 0 VSIG1 340547 broad.mit.edu 37 X 107310195 107310195 + Silent SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:107310195A>G ENST00000415430.3 + 4 512 c.351A>G c.(349-351)gtA>gtG p.V117V VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Silent_p.V81V NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 81 Ig-like V-type 1. integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 GACAAGCTGTAGCCATCGGGC 0.428000 22 2 0 0 0.000375601 0 0 GJA8 2703 broad.mit.edu 37 1 147380211 147380211 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:147380211C>T ENST00000240986.4 + 2 182 c.129C>T c.(127-129)ttC>ttT p.F43F GJA8_ENST00000369235.1_Silent_p.F43F NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 43 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCGCAGAGTTCGTGTGGGGGG 0.592000 15 38 0 0 0.000566183 0 0 PEX26 55670 broad.mit.edu 37 22 18561251 18561251 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:18561251C>T ENST00000329627.6 + 2 315 c.109C>T c.(109-111)Ctt>Ttt p.L37F PEX26_ENST00000399744.3_Missense_Mutation_p.L37F|PEX26_ENST00000428061.2_Missense_Mutation_p.L37F NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 37 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ggccgTGGACCTTCTGGAGGA 0.751000 3 5 0 0 6.4e-05 0 0 FGFR1 2260 broad.mit.edu 37 8 38275752 38275752 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:38275752C>T ENST00000341462.5 - 10 2365 c.1424G>A c.(1423-1425)cGg>cAg p.R475Q FGFR1_ENST00000397108.4_Missense_Mutation_p.R473Q|FGFR1_ENST00000397103.1_Missense_Mutation_p.R386Q|FGFR1_ENST00000397113.2_Missense_Mutation_p.R473Q|FGFR1_ENST00000335922.5_Missense_Mutation_p.R465Q|FGFR1_ENST00000356207.5_Missense_Mutation_p.R386Q|FGFR1_ENST00000397091.5_Missense_Mutation_p.R473Q|FGFR1_ENST00000326324.6_Missense_Mutation_p.R384Q|FGFR1_ENST00000447712.2_Missense_Mutation_p.R475Q|FGFR1_ENST00000532791.1_Missense_Mutation_p.R473Q|FGFR1_ENST00000425967.3_Missense_Mutation_p.R506Q P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 475 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TTACCTGTCCCGAGGCAGCTC 0.532000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 85 81 0 0 0.000781405 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590624 140590624 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140590624G>A ENST00000239450.2 + 1 2334 c.2145G>A c.(2143-2145)agG>agA p.R715R PCDHB12_ENST00000541609.1_Silent_p.R378R NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 715 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTGTGCAGGAGGAGCAGGG 0.672000 36 106 0 0 0.00195071 0 0 OR6C65 403282 broad.mit.edu 37 12 55794521 55794521 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:55794521C>T ENST00000379665.2 + 1 308 c.209C>T c.(208-210)tCa>tTa p.S70L NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TTAGAAATTTCATTTACGACA 0.318000 17 35 0 0 0.000422831 0 0 C5AR1 728 broad.mit.edu 37 19 47823206 47823206 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:47823206G>A ENST00000355085.3 + 2 194 c.172G>A c.(172-174)Gtg>Atg p.V58M NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 58 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CAATGCCCTGGTGGTCTGGGT 0.582000 24 33 0 0 0.00127121 0 0 GPR174 84636 broad.mit.edu 37 X 78426883 78426883 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:78426883C>T ENST00000276077.1 + 1 415 c.379C>T c.(379-381)Cat>Tat p.H127Y NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 127 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CTTTCGCTTCCATGACTGCAA 0.458000 HNSCC(63;0.18) 70 16 0 0 0.000781405 0 0 VRK3 51231 broad.mit.edu 37 19 50492947 50492947 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50492947G>A ENST00000599538.1 - 11 1709 c.1045C>T c.(1045-1047)Cct>Tct p.P349S VRK3_ENST00000594092.1_Missense_Mutation_p.P349S|VRK3_ENST00000377011.2_Missense_Mutation_p.P299S|VRK3_ENST00000443401.2_Missense_Mutation_p.P118S|VRK3_ENST00000593919.1_Missense_Mutation_p.P349S|VRK3_ENST00000601912.1_Missense_Mutation_p.P299S|VRK3_ENST00000316763.3_Missense_Mutation_p.P349S|VRK3_ENST00000601341.1_Missense_Mutation_p.P299S|VRK3_ENST00000594948.1_Missense_Mutation_p.P349S Q8IV63 VRK3_HUMAN vaccinia related kinase 3 349 Protein kinase. nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) CCCTCGTGAGGGCTCCTGCTG 0.572000 13 48 0 0 0.00185496 0 0 FAM131B 9715 broad.mit.edu 37 7 143054043 143054043 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143054043G>A ENST00000409408.1 - 6 2307 c.599C>T c.(598-600)tCg>tTg p.S200L FAM131B_ENST00000443739.2_Missense_Mutation_p.S228L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216L|FAM131B_ENST00000409346.1_Missense_Mutation_p.S200L|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200L Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 200 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GGCATCTGACGACCCCAGACA 0.552000 15 54 0 0 0.000422831 0 0 MCAM 4162 broad.mit.edu 37 11 119181572 119181572 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:119181572C>G ENST00000264036.4 - 14 1701 c.1687G>C c.(1687-1689)Gtg>Ctg p.V563L MCAM_ENST00000392814.1_3'UTR NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule 563 anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) ATCACAGCCACGATGACCACG 0.617000 24 70 0 0 0.000720815 0 0 CYP4B1 1580 broad.mit.edu 37 1 47280910 47280910 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:47280910C>T ENST00000271153.4 + 8 1080 c.1044C>T c.(1042-1044)atC>atT p.I348I CYP4B1_ENST00000371919.4_Silent_p.I334I|CYP4B1_ENST00000371923.4_Silent_p.I349I|CYP4B1_ENST00000452782.2_Silent_p.I186I P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 348 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) TCCGCGAGATCCTAGGGGACC 0.582000 27 19 0 0 0.00178596 0 0 DEPDC4 120863 broad.mit.edu 37 12 100657659 100657659 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:100657659G>A ENST00000416321.1 - 2 172 c.170C>T c.(169-171)cCt>cTt p.P57L NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 57 intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 AGCTTGAAAAGGACCAGAGCA 0.338000 27 23 0 0 0.00178596 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901655 2901655 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:2901655G>A ENST00000254695.8 + 14 1275 c.1185G>A c.(1183-1185)gaG>gaA p.E395E RAP1GAP2_ENST00000540393.2_Silent_p.E376E|RAP1GAP2_ENST00000366401.4_Silent_p.E380E|RAP1GAP2_ENST00000542807.1_Silent_p.E395E NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 395 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CAGGCACAGAGACCCCATCCT 0.537000 133 9 0 0 0.000781405 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51650538 51650538 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51650538G>A ENST00000317643.6 + 6 1254 c.1185G>A c.(1183-1185)atG>atA p.M395I SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.M302I NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 395 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ACATAGGCATGAAGGATGCAA 0.572000 24 27 0 0 0.000878237 0 0 CROCC 9696 broad.mit.edu 37 1 17265513 17265513 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:17265513C>T ENST00000375541.5 + 12 1553 c.1484C>T c.(1483-1485)cCa>cTa p.P495L CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 495 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACCCCGTCCCCACCGCGGCGC 0.746000 17 1 0 0 0.000566183 0 0 C2orf40 84417 broad.mit.edu 37 2 106690397 106690397 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:106690397C>T ENST00000409944.1 + 4 306 c.75C>T c.(73-75)ttC>ttT p.F25F C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Silent_p.F61F Q9H1Z8 AUGN_HUMAN chromosome 2 open reading frame 40 61 extracellular region|transport vesicle lung(7)|urinary_tract(1) 8 CCAAAGAATTCCTTGGCAGCC 0.517000 92 109 0 0 0.000781405 0 0 CNBD1 168975 broad.mit.edu 37 8 87917317 87917317 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:87917317T>A ENST00000518476.1 + 3 218 c.167T>A c.(166-168)aTg>aAg p.M56K NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 56 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 AGCCGGAGTATGAGCAATATC 0.333000 8 22 0 0 0.000157383 0 0 AQP12B 653437 broad.mit.edu 37 2 241621907 241621907 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:241621907C>T ENST00000407834.3 - 1 410 c.348G>A c.(346-348)gcG>gcA p.A116A NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 104 integral to membrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GCCCCTGTGCCGCCAGCTTCA 0.692000 19 7 0 0 0.00121646 0 0 AGO1 26523 broad.mit.edu 37 1 36360796 36360796 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:36360796C>T ENST00000373204.4 + 8 1159 c.946C>T c.(946-948)Ctt>Ttt p.L316F AGO1_ENST00000373206.1_Missense_Mutation_p.L241F NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GAAATATAACCTTCAGCTCAA 0.507000 17 50 0 0 0.000566183 0 0 PYCRL 65263 broad.mit.edu 37 8 144687954 144687954 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:144687954G>A ENST00000220966.6 - 6 806 c.777C>T c.(775-777)gcC>gcT p.A259A PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Silent_p.A110A NM_023078.3 NP_075566.2 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 247 proline biosynthetic process pyrroline-5-carboxylate reductase activity central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CCTGCTCCAGGGCGTGGAGTC 0.682000 29 71 0 0 0.0024448 0 0 BATF2 116071 broad.mit.edu 37 11 64756792 64756792 + Missense_Mutation SNP C C T rs139572037 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64756792C>T ENST00000301887.4 - 3 764 c.634G>A c.(634-636)Gag>Aag p.E212K BATF2_ENST00000527716.1_Missense_Mutation_p.E188K|BATF2_ENST00000435842.2_Missense_Mutation_p.E127K NM_138456.3 NP_612465.3 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, ATF-like 2 212 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 GTGGGATGCTCCAGCTCGAGG 0.647000 20 21 0 0 0.000958276 0 0 UNKL 64718 broad.mit.edu 37 16 1453339 1453339 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:1453339G>A ENST00000389221.4 - 3 293 c.294C>T c.(292-294)ccC>ccT p.P98P UNKL_ENST00000301712.5_Silent_p.P98P|UNKL_ENST00000508903.2_Silent_p.P98P|UNKL_ENST00000397462.1_Silent_p.P185P|UNKL_ENST00000503648.1_5'UTR NM_001193388.1 NP_001180317.1 Q9H9P5 UNKL_HUMAN unkempt family zinc finger-like 98 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Hepatocellular(780;0.0893) GGTGCAGGTAGGGACACCTGG 0.617000 9 16 0 0 0.000673444 0 0 TPP2 7174 broad.mit.edu 37 13 103295587 103295587 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:103295587C>T ENST00000376052.3 + 17 2052 c.2036C>T c.(2035-2037)tCg>tTg p.S679L TPP2_ENST00000376065.4_Missense_Mutation_p.S679L P29144 TPP2_HUMAN tripeptidyl peptidase II 679 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACAGTGTGTTCGTGTTCTTCT 0.363000 19 43 0 0 0.00229938 0 0 TAT 6898 broad.mit.edu 37 16 71604251 71604251 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:71604251G>A ENST00000355962.4 - 9 1095 c.962C>T c.(961-963)aCc>aTc p.T321I RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 321 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CTGGACAATGGTACAGGGTCC 0.502000 38 21 0 0 0.00128727 0 0 SLC6A12 6539 broad.mit.edu 37 12 305415 305415 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:305415C>T ENST00000428720.1 - 12 1944 c.1201G>A c.(1201-1203)Gag>Aag p.E401K SLC6A12_ENST00000536824.1_Missense_Mutation_p.E401K|SLC6A12_ENST00000359674.4_Missense_Mutation_p.E401K|SLC6A12_ENST00000424061.2_Missense_Mutation_p.E401K|SLC6A12_ENST00000397296.2_Missense_Mutation_p.E401K NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 401 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ACCAGGCACTCCACACAGACA 0.642000 18 6 0 0 0.000958276 0 0 SLC39A5 283375 broad.mit.edu 37 12 56631453 56631453 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56631453G>A ENST00000266980.4 + 11 1854 c.1561G>A c.(1561-1563)Ggc>Agc p.G521S SLC39A5_ENST00000419232.1_3'UTR|SLC39A5_ENST00000454355.2_Missense_Mutation_p.G521S NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 521 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCTGGGGGGCGGCCTCATGCT 0.652000 6 28 0 0 0.00116845 0 0 ZNF525 170958 broad.mit.edu 37 19 53884139 53884139 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53884139G>A ENST00000467003.1 + 4 400 c.199G>A c.(199-201)Gaa>Aaa p.E67K ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.E103K|ZNF525_ENST00000600148.1_3'UTR zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 TCAGTGGCAAGAAGATGAAAG 0.393000 77 89 0 0 0.000781405 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140794330 140794330 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140794330C>T ENST00000398610.2 + 1 1588 c.1588C>T c.(1588-1590)Cat>Tat p.H530Y PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCAGTTTCATGAGCTACA 0.532000 85 72 0 0 0.000781405 0 0 PPY 5539 broad.mit.edu 37 17 42018914 42018914 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:42018914G>A ENST00000591228.1 - 2 196 c.109C>T c.(109-111)Cca>Tca p.P37S PPY_ENST00000225992.3_Missense_Mutation_p.P37S|PPY_ENST00000587006.1_Missense_Mutation_p.P37S P01298 PAHO_HUMAN pancreatic polypeptide 37 digestion|protein secretion extracellular region hormone activity large_intestine(2)|lung(1)|skin(1) 4 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) TTGTCCCCTGGGTACACTGGC 0.612000 17 51 0 0 0.000566183 0 0 DCST2 127579 broad.mit.edu 37 1 155002639 155002639 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:155002639C>T ENST00000368424.3 - 7 1156 c.1098G>A c.(1096-1098)atG>atA p.M366I DCST2_ENST00000295536.5_Missense_Mutation_p.M366I NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 366 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCACAGCCTCCATGCGCAGGA 0.597000 62 40 0 0 0.000781405 0 0 MGAM 8972 broad.mit.edu 37 7 141763352 141763352 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141763352G>A ENST00000475668.2 + 36 4365 c.4311G>A c.(4309-4311)agG>agA p.R1437R MGAM_ENST00000549489.2_Silent_p.R1437R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1437 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CAGGCTGCAGGGACGCCTCTC 0.502000 6 26 0 0 0.000157383 0 0 APOM 55937 broad.mit.edu 37 6 31625002 31625002 + Splice_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31625002G>A ENST00000375916.3 + 3 766 c.269_splice c.e3-1 p.M90_splice APOM_ENST00000375920.4_Splice_Site_p.M18_splice|APOM_ENST00000375918.2_Splice_Site_p.M18_splice NM_019101.2 NP_061974.2 O95445 APOM_HUMAN apolipoprotein M 90 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1) 7 ACCTCTGCAGGAAAGATGGGC 0.507000 115 181 0 0 0.000781405 0 0 KANSL1L 151050 broad.mit.edu 37 2 210962892 210962892 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:210962892G>A ENST00000281772.9 - 5 1731 c.1468C>T c.(1468-1470)Cct>Tct p.P490S KANSL1L_ENST00000418791.1_Missense_Mutation_p.P490S|KANSL1L_ENST00000452086.1_Missense_Mutation_p.P490S|KANSL1L_ENST00000457374.1_Missense_Mutation_p.P490S NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 490 AAGTTGAGAGGGGCAATCAAA 0.428000 8 34 0 0 0.000274275 0 0 OR10C1 442194 broad.mit.edu 37 6 29407875 29407875 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29407875C>T ENST00000444197.2 + 1 793 c.83C>T c.(82-84)tCt>tTt p.S28F OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TTGCTCTTCTCTGTCTTTCTC 0.537000 46 64 0 0 0.000680045 0 0 GNB1L 54584 broad.mit.edu 37 22 19789715 19789715 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:19789715G>A ENST00000329517.6 - 7 777 c.541C>T c.(541-543)Ctt>Ttt p.L181F GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Missense_Mutation_p.L181F|GNB1L_ENST00000403325.1_Missense_Mutation_p.L181F NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 181 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) CCGGCCAGAAGGAGTGGGCGG 0.642000 17 37 0 0 0.000958276 0 0 TTC13 79573 broad.mit.edu 37 1 231044507 231044507 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:231044507C>T ENST00000366661.4 - 22 2426 c.2419G>A c.(2419-2421)Ggt>Agt p.G807S TTC13_ENST00000366662.4_Missense_Mutation_p.G753S|TTC13_ENST00000414259.1_Missense_Mutation_p.G754S NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 807 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) GCCTCTGAACCAGGGGCTGTC 0.448000 16 32 0 0 0.000958276 0 0 ADCY1 107 broad.mit.edu 37 7 45632475 45632475 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:45632475C>T ENST00000297323.7 + 2 779 c.757C>T c.(757-759)Cga>Tga p.R253* ADCY1_ENST00000432715.1_Nonsense_Mutation_p.R28* NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 253 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 integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CATTGAGGACCGACTGAGGCT 0.597000 40 35 0 0 0.000953801 0 0 THEM5 284486 broad.mit.edu 37 1 151820666 151820666 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:151820666C>G ENST00000368817.5 - 4 698 c.567G>C c.(565-567)agG>agC p.R189S AL450992.2_ENST00000434182.1_RNA NM_182578.3 NP_872384.1 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 189 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACTTTTTGAACCTGATGTTGA 0.557000 48 33 0 0 0.000781405 0 0 FLT3 2322 broad.mit.edu 37 13 28589333 28589333 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:28589333C>A ENST00000380982.4 - 22 2804 c.2723G>T c.(2722-2724)gGa>gTa p.G908V FLT3_ENST00000537084.1_Missense_Mutation_p.G864V|FLT3_ENST00000241453.7_Missense_Mutation_p.G905V P36888 FLT3_HUMAN fms-related tyrosine kinase 3 905 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.G885fs*4(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CATTTTAAATCCATTTTGAAT 0.373000 """Mis, O""" """AML, ALL""" 7 4 8.12818e-05 0.000386552 0.00198382 1 0 MAP3K15 389840 broad.mit.edu 37 X 19410163 19410163 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:19410163C>T ENST00000338883.4 - 18 2387 c.2388G>A c.(2386-2388)tcG>tcA p.S796S MAP3K15_ENST00000469203.2_Silent_p.S628S|MAP3K15_ENST00000359173.3_Silent_p.S231S|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 796 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding p.S843S(1)|p.S271S(1) NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CAAGACGTTTCGAGGTTCCAA 0.488000 22 0 0 0 0.000375601 0 0 SHROOM1 134549 broad.mit.edu 37 5 132161783 132161783 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132161783G>A ENST00000378679.3 - 4 854 c.50C>T c.(49-51)aCt>aTt p.T17I SHROOM1_ENST00000378676.1_Missense_Mutation_p.T17I|SHROOM1_ENST00000319854.3_Missense_Mutation_p.T17I NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 17 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGGCTGCTAGTGGACGAGGC 0.711000 16 6 0 0 0.00121646 0 0 BVES 11149 broad.mit.edu 37 6 105563648 105563648 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:105563648C>T ENST00000314641.5 - 7 1087 c.871G>A c.(871-873)Gaa>Aaa p.E291K BVES_ENST00000336775.5_Missense_Mutation_p.E291K|BVES_ENST00000446408.2_Missense_Mutation_p.E291K NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 291 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) TTCCTCATTTCCAACATGGAG 0.463000 42 8 0 0 0.00170553 0 0 RGS19 10287 broad.mit.edu 37 20 62705292 62705292 + Silent SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62705292G>T ENST00000395042.1 - 6 834 c.568C>A c.(568-570)Cgg>Agg p.R190R RGS19_ENST00000332298.5_Silent_p.R190R NM_005873.2 NP_005864.1 P49795 RGS19_HUMAN regulator of G-protein signaling 19 190 RGS. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TAGGAGTCCCGGTGCATGAGC 0.662000 6 132 1.12685e-05 5.37234e-05 0.000274275 1 0 TEX13A 56157 broad.mit.edu 37 X 104464876 104464876 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:104464876C>T ENST00000372578.3 - 2 317 c.206G>A c.(205-207)tGg>tAg p.W69* IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Nonsense_Mutation_p.W69*|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Nonsense_Mutation_p.W69* NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 69 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 CAGGCTGCCCCAGGTGCAGGC 0.587000 12 4 0 0 0.000978159 0 0 CACNA1C 775 broad.mit.edu 37 12 2162765 2162765 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:2162765G>A ENST00000399655.1 + 1 302 c.37G>A c.(37-39)Gaa>Aaa p.E13K CACNA1C_ENST00000335762.5_Missense_Mutation_p.E13K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E13K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E13K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E13K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E13K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E13K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E13K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E13K NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 13 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CATTCCAGAGGAAAACCACCA 0.597000 4 7 0 0 0.00116845 0 0 SNORD114-26 767606 broad.mit.edu 37 14 101453423 101453423 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:101453423G>A ENST00000363543.1 + 0 41 NR_003219.1 AGTCACATACGATGAATACGT 0.378000 31 72 0 0 0.000953801 0 0 SPEG 10290 broad.mit.edu 37 2 220354580 220354580 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:220354580G>A ENST00000312358.7 + 36 8972 c.8840G>A c.(8839-8841)cGa>cAa p.R2947Q AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2947 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCAGTCCCCGAAGCTCTCCC 0.657000 21 14 0 0 0.000375601 0 0 DSC1 1823 broad.mit.edu 37 18 28725576 28725576 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:28725576C>T ENST00000257197.3 - 7 1198 c.937G>A c.(937-939)Gaa>Aaa p.E313K DSC1_ENST00000257198.5_Missense_Mutation_p.E313K|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 313 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ATCATTACTTCTCTATCCAGA 0.383000 23 34 0 0 0.000375601 0 0 LTBP1 4052 broad.mit.edu 37 2 33468816 33468816 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:33468816G>A ENST00000404816.2 + 10 2317 c.1964G>A c.(1963-1965)gGa>gAa p.G655E LTBP1_ENST00000354476.3_Missense_Mutation_p.G655E|LTBP1_ENST00000418533.2_Missense_Mutation_p.G329E|LTBP1_ENST00000390003.4_Missense_Mutation_p.G329E|LTBP1_ENST00000402934.1_Missense_Mutation_p.G329E|LTBP1_ENST00000404525.1_Missense_Mutation_p.G329E|LTBP1_ENST00000407925.1_Missense_Mutation_p.G329E Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 655 EGF-like 3; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGCAAAATAGGATTTGGGCCG 0.383000 57 32 0 0 0.000781405 0 0 CHRM3 1131 broad.mit.edu 37 1 240071798 240071798 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:240071798C>T ENST00000255380.4 + 5 1826 c.1047C>T c.(1045-1047)tcC>tcT p.S349S NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 349 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGGAGAACTCCGCCTCCTCCG 0.572000 9 6 0 0 0.000274275 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20876032 20876032 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:20876032C>T ENST00000381552.1 + 9 1398 c.1030C>T c.(1030-1032)Cca>Tca p.P344S SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P344S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P226S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P295S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P344S Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 344 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.P344S(2) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) AGATTTTCTTCCATCACTGAA 0.413000 30 33 0 0 0.00209593 0 0 SDK1 221935 broad.mit.edu 37 7 4051763 4051763 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:4051763G>A ENST00000404826.2 + 16 2455 c.2316G>A c.(2314-2316)ccG>ccA p.P772P SDK1_ENST00000389531.3_Silent_p.P772P NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 772 Fibronectin type-III 2. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GTGCTCCCCCGAAAAATATAG 0.522000 103 115 0 0 0.000781405 0 0 AOX1 316 broad.mit.edu 37 2 201507454 201507454 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201507454C>T ENST00000374700.2 + 25 3018 c.2777C>T c.(2776-2778)cCt>cTt p.P926L AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 926 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTTGGCTTTCCTCAGGCAGCG 0.483000 62 46 0 0 0.000781405 0 0 RYR2 6262 broad.mit.edu 37 1 237972271 237972271 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:237972271G>A ENST00000366574.2 + 100 14686 c.14369G>A c.(14368-14370)cGa>cAa p.R4790Q RYR2_ENST00000360064.6_Missense_Mutation_p.R4796Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4774Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4790 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.R4788Q(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATTTTTTCCGAAAATTCTAC 0.353000 74 192 0 0 0.000781405 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769639 112769639 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:112769639G>A ENST00000390666.3 - 1 1089 c.898C>T c.(898-900)Ccc>Tcc p.P300S CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 300 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) CCAGGTTCGGGGGTCCACAAG 0.622000 11 23 0 0 0.000673444 0 0 AP3M2 10947 broad.mit.edu 37 8 42024823 42024823 + Silent SNP C C T rs146759837 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:42024823C>T ENST00000518421.1 + 8 1236 c.945C>T c.(943-945)ccC>ccT p.P315P AP3M2_ENST00000396926.3_Silent_p.P315P|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Silent_p.P315P NM_001134296.1 NP_001127768.1 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 315 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GCCAGATGCCCAAGGGGGTCC 0.537000 18 41 0 0 0.00074312 0 0 ZNF711 7552 broad.mit.edu 37 X 84526691 84526691 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:84526691G>A ENST00000360700.4 + 10 3167 c.2281G>A c.(2281-2283)Gat>Aat p.D761N ZNF711_ENST00000542798.1_Missense_Mutation_p.D557N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D723N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D715N|ZNF711_ENST00000276123.3_Missense_Mutation_p.D715N Q9Y462 ZN711_HUMAN zinc finger protein 711 715 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 CAGCACTACAGATGCATCTGG 0.378000 25 3 0 0 0.000586117 0 0 CRTAC1 55118 broad.mit.edu 37 10 99771025 99771025 + Nonsense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:99771025C>A ENST00000370597.3 - 2 449 c.94G>T c.(94-96)Gaa>Taa p.E32* CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.E32*|CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.E32* NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 32 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) AACATGGGTTCAGCCCGCTGG 0.512000 37 41 6.70999e-13 3.22451e-12 0.000814825 1 0 OR4A47 403253 broad.mit.edu 37 11 48510455 48510455 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48510455G>A ENST00000446524.1 + 1 187 c.111G>A c.(109-111)atG>atA p.M37I NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TTTTGACCATGGTGGGCAACC 0.418000 15 8 0 0 0.000422831 0 0 CASZ1 54897 broad.mit.edu 37 1 10714564 10714564 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:10714564C>T ENST00000377022.3 - 10 2067 c.1750G>A c.(1750-1752)Gac>Aac p.D584N CASZ1_ENST00000344008.5_Missense_Mutation_p.D584N NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TGGAAGCCGTCGTTAATGAGC 0.572000 147 12 0 0 0.000781405 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642816 1642816 + Missense_Mutation SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:1642816A>C ENST00000399682.1 - 1 552 c.508T>G c.(508-510)Tgt>Ggt p.C170G NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 230 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GATGACCCACAACCTGAGGAG 0.612000 36 56 0 0 0.00111076 0 0 VWA2 340706 broad.mit.edu 37 10 116049157 116049157 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:116049157G>A ENST00000603594.1 + 12 2352 c.2031G>A c.(2029-2031)agG>agA p.R677R VWA2_ENST00000392982.3_Silent_p.R677R NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 677 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GTCTGCGGAGGCTTGCAGGTC 0.627000 31 4 0 0 0.000814825 0 0 AKAP9 10142 broad.mit.edu 37 7 91714954 91714954 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:91714954C>T ENST00000359028.2 + 36 9215 c.8990C>T c.(8989-8991)tCt>tTt p.S2997F AKAP9_ENST00000358100.2_Missense_Mutation_p.S2943F|AKAP9_ENST00000356239.3_Missense_Mutation_p.S2993F Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2997 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAATCTCATCTCTAAAGGAT 0.353000 T BRAF papillary thyroid 23 41 0 0 0.00047179 0 0 TTN 7273 broad.mit.edu 37 2 179615186 179615186 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179615186C>T ENST00000360870.5 - 46 12163 c.11941G>A c.(11941-11943)Gac>Aac p.D3981N TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9797 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) ATTGGCATGTCATTGTTATAC 0.328000 30 50 0 0 0.00178596 0 0 KIF4B 285643 broad.mit.edu 37 5 154395457 154395457 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:154395457C>T ENST00000435029.4 + 1 2198 c.2038C>T c.(2038-2040)Cgt>Tgt p.R680C NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 680 Interaction with PRC1 (By similarity). R -> H (in dbSNP:rs17116710). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGAACGAGACCGTAAGAGGCA 0.433000 75 43 0 0 0.000781405 0 0 KCNH7 90134 broad.mit.edu 37 2 163374525 163374525 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:163374525G>A ENST00000332142.5 - 4 706 c.607C>T c.(607-609)Cct>Tct p.P203S KCNH7_ENST00000328032.4_Missense_Mutation_p.P203S|KCNH7_ENST00000477019.1_5'UTR NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 203 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTTTTGTAGGAGACTTAAAA 0.443000 43 71 0 0 0.000680045 0 0 OR9G1 390174 broad.mit.edu 37 11 56468464 56468464 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56468464C>T ENST00000312153.1 + 1 601 c.601C>T c.(601-603)Ctg>Ttg p.L201L NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 GATGTACTTCCTGCTGGCCTC 0.512000 17 102 0 0 0.00127121 0 0 KLKB1 3818 broad.mit.edu 37 4 187172454 187172454 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:187172454C>T ENST00000264690.6 + 8 1027 c.840C>T c.(838-840)agC>agT p.S280S KLKB1_ENST00000513864.1_Silent_p.S280S NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 280 Apple 3. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CTGGATATAGCCTTTTAACCT 0.299000 35 15 0 0 0.00222228 0 0 SNHG14 104472715 broad.mit.edu 37 15 25451265 25451265 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:25451265G>A ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 CGTGGCTCTGGGCCAGTGTGC 0.632000 11 6 0 0 0.000673444 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401168 11401168 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:11401168T>C ENST00000002596.5 - 2 1636 c.462A>G c.(460-462)ctA>ctG p.L154L NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 154 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 TGTAGTCAGATAGCACGCGCT 0.587000 15 23 0 0 0.000308642 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8645836 8645836 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:8645836G>A ENST00000270328.4 - 25 3519 c.3253C>T c.(3253-3255)Cag>Tag p.Q1085* ADAMTS10_ENST00000597188.1_Nonsense_Mutation_p.Q1085*|ADAMTS10_ENST00000595838.1_Nonsense_Mutation_p.Q572* Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 1085 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CTGCAGAACTGAAATTTGAGC 0.627000 OREG0025220 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 12 0 0 0.000602214 0 0 GANC 2595 broad.mit.edu 37 15 42566701 42566701 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:42566701G>A ENST00000318010.8 + 1 262 c.22G>A c.(22-24)Gaa>Aaa p.E8K GANC_ENST00000440615.2_Missense_Mutation_p.E8K|GANC_ENST00000566442.1_Missense_Mutation_p.E8K NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 8 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) AGTGAAAGAGGAAATAAGGTA 0.483000 15 13 0 0 0.000958276 0 0 EGR4 1961 broad.mit.edu 37 2 73518712 73518712 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:73518712C>T ENST00000436467.2 - 2 1721 c.1334G>A c.(1333-1335)cGc>cAc p.R445H EGR4_ENST00000545030.1_Missense_Mutation_p.R548H B7ZKU3 B7ZKU3_HUMAN early growth response 4 444 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CGCGAAGCGGCGGCCGCACAC 0.662000 20 29 0 0 0.00229938 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793566 65793566 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65793566G>A ENST00000312106.5 - 1 422 c.285C>T c.(283-285)ggC>ggT p.G95G NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 95 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CCAGACCAAAGCCTGTGGGGC 0.597000 66 53 0 0 0.000781405 0 0 FAM83B 222584 broad.mit.edu 37 6 54806498 54806498 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:54806498G>A ENST00000306858.7 + 5 2845 c.2729G>A c.(2728-2730)aGa>aAa p.R910K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 910 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ACCCCTGAAAGAAGACCTACT 0.453000 39 47 0 0 0.00128727 0 0 CREB5 9586 broad.mit.edu 37 7 28452443 28452443 + Translation_Start_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:28452443G>A ENST00000357727.2 + 0 300 CREB5_ENST00000396299.2_Intron NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 TAATCTTGCTGGTGAAACAGA 0.358000 122 132 0 0 0.000781405 0 0 NLRP13 126204 broad.mit.edu 37 19 56424369 56424369 + Nonsense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56424369T>A ENST00000588751.1 - 5 838 c.814A>T c.(814-816)Aaa>Taa p.K272* NLRP13_ENST00000342929.3_Nonsense_Mutation_p.K272* Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 272 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TACCTTATTTTATGGCAGCTG 0.443000 19 117 0 0 0.00074312 0 0 DNAH5 1767 broad.mit.edu 37 5 13737588 13737588 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:13737588C>T ENST00000265104.4 - 66 11332 c.11228G>A c.(11227-11229)aGa>aAa p.R3743K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3743 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGATGAGTTCTTTCTTTCTC 0.378000 Kartagener syndrome 36 7 0 0 0.00128727 0 0 MRO 83876 broad.mit.edu 37 18 48333088 48333088 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:48333088C>T ENST00000428869.2 - 5 490 c.232G>A c.(232-234)Gaa>Aaa p.E78K MRO_ENST00000256425.2_Missense_Mutation_p.E78K|MRO_ENST00000436348.2_Missense_Mutation_p.E92K|MRO_ENST00000431965.2_Missense_Mutation_p.E92K|MRO_ENST00000587291.1_Intron|MRO_ENST00000588444.1_Missense_Mutation_p.E78K|MRO_ENST00000398439.3_Missense_Mutation_p.E78K Q9BYG7 MSTRO_HUMAN maestro 78 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) TCAGGGGCTTCATAGGCCATG 0.547000 61 60 0 0 0.000781405 0 0 UBN1 29855 broad.mit.edu 37 16 4910869 4910869 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:4910869C>T ENST00000396658.4 + 6 1579 c.876C>T c.(874-876)ctC>ctT p.L292L UBN1_ENST00000590769.1_Silent_p.L292L|UBN1_ENST00000262376.6_Silent_p.L292L|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000545171.1_Silent_p.L292L NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 292 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TGCTCTCACTCTTTGGCTCTA 0.572000 61 37 0 0 0.000781405 0 0 ZNF831 128611 broad.mit.edu 37 20 57829282 57829282 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:57829282G>A ENST00000371030.2 + 5 4518 c.4518G>A c.(4516-4518)caG>caA p.Q1506Q NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1506 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ACATAGCCCAGGAAATTCACA 0.517000 40 58 0 0 0.00170553 0 0 RP1 6101 broad.mit.edu 37 8 55540655 55540655 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:55540655G>A ENST00000220676.1 + 4 4361 c.4213G>A c.(4213-4215)Gaa>Aaa p.E1405K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1405 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTGCCTAAGTGAAAAAGAAGC 0.318000 27 61 0 0 0.000720815 0 0 GUCY2C 2984 broad.mit.edu 37 12 14839148 14839148 + Silent SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:14839148C>A ENST00000261170.3 - 3 478 c.342G>T c.(340-342)cgG>cgT p.R114R RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 114 R -> Q (in dbSNP:rs56275235). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CACAGCCCATCCGTTGTGCAT 0.438000 17 6 3.41278e-10 1.63591e-09 0.000566183 1 0 ZNF480 147657 broad.mit.edu 37 19 52825827 52825827 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52825827C>T ENST00000595962.1 + 5 1390 c.1324C>T c.(1324-1326)Ctt>Ttt p.L442F CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.L365F|ZNF480_ENST00000334564.7_Missense_Mutation_p.L399F NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GTATTCAGGCCTTTCAGCCCA 0.393000 35 157 0 0 0.00128727 0 0 TOP1 7150 broad.mit.edu 37 20 39741563 39741563 + Nonsense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:39741563A>T ENST00000361337.2 + 14 1700 c.1450A>T c.(1450-1452)Aag>Tag p.K484* RP1-1J6.2_ENST00000454626.1_RNA NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 484 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) CTTCATCGACAAGGTGAGAGC 0.488000 T NUP98 AML* 32 24 0 0 0.000491102 0 0 MVB12B 89853 broad.mit.edu 37 9 129154430 129154430 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:129154430C>T ENST00000361171.3 + 5 576 c.495C>T c.(493-495)atC>atT p.I165I MVB12B_ENST00000535766.1_Silent_p.I158I|MVB12B_ENST00000436593.3_Silent_p.I150I|MVB12B_ENST00000545391.1_Silent_p.I165I NM_033446.2 NP_258257.1 multivesicular body subunit 12B ACATTCGGATCATGGGCCGGA 0.502000 72 10 0 0 0.000781405 0 0 KLHL13 90293 broad.mit.edu 37 X 117043651 117043651 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:117043651C>T ENST00000371876.1 - 4 3247 c.826G>A c.(826-828)Gtt>Att p.V276I KLHL13_ENST00000545703.1_Missense_Mutation_p.V285I|KLHL13_ENST00000540167.1_Missense_Mutation_p.V311I|KLHL13_ENST00000469946.1_Missense_Mutation_p.V276I|KLHL13_ENST00000371878.1_Missense_Mutation_p.V276I|KLHL13_ENST00000371882.1_Missense_Mutation_p.V276I|KLHL13_ENST00000539496.1_Missense_Mutation_p.V330I|KLHL13_ENST00000541812.1_Missense_Mutation_p.V311I|KLHL13_ENST00000262820.3_Missense_Mutation_p.V327I Q9P2N7 KLH13_HUMAN kelch-like family member 13 327 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GACTGCATAACTGGCTGCATA 0.453000 38 4 0 0 0.00170553 0 0 HPSE 10855 broad.mit.edu 37 4 84240599 84240599 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:84240599G>A ENST00000405413.2 - 4 533 c.397C>T c.(397-399)Cct>Tct p.P133S HPSE_ENST00000513463.1_Missense_Mutation_p.P133S|HPSE_ENST00000512196.1_Missense_Mutation_p.P133S|HPSE_ENST00000311412.5_Missense_Mutation_p.P133S NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 133 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) ACATCAGGAGGGATGGATCCA 0.423000 18 36 0 0 0.000958276 0 0 SESTD1 91404 broad.mit.edu 37 2 180041227 180041227 + Missense_Mutation SNP T T G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:180041227T>G ENST00000428443.3 - 4 519 c.203A>C c.(202-204)gAt>gCt p.D68A SESTD1_ENST00000486468.1_5'UTR NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 68 CRAL-TRIO. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TTTTCTGCCATCCACAATCAC 0.348000 16 26 0 0 0.000566183 0 0 MUC16 94025 broad.mit.edu 37 19 9076487 9076487 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9076487C>T ENST00000397910.4 - 3 11162 c.10959G>A c.(10957-10959)aaG>aaA p.K3653K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3654 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTCTCTGTCTTTACAGCTG 0.473000 17 41 0 0 0.000422831 0 0 LPP 4026 broad.mit.edu 37 3 188584049 188584049 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:188584049C>T ENST00000312675.4 + 9 1718 c.1472C>T c.(1471-1473)aCc>aTc p.T491I LPP_ENST00000543006.1_Missense_Mutation_p.T491I NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 491 LIM zinc-binding 2. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CTCCGAGCCACCGGGAAGGCC 0.562000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 43 62 0 0 0.000680045 0 0 PCLO 27445 broad.mit.edu 37 7 82584101 82584101 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82584101C>T ENST00000423517.2 - 5 6505 c.6168G>A c.(6166-6168)agG>agA p.R2056R PCLO_ENST00000333891.8_Silent_p.R2056R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1987 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTAGTAGTTTCCTTTCTTCTT 0.448000 15 84 0 0 0.000219431 0 0 ARID5A 10865 broad.mit.edu 37 2 97217808 97217808 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:97217808C>T ENST00000454558.2 + 7 2516 c.1339C>T c.(1339-1341)Ccg>Tcg p.P447S ARID5A_ENST00000357485.3_Missense_Mutation_p.P515S Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 515 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 CACTGGCACCCCGGGCCCCTT 0.721000 29 19 0 0 0.00127121 0 0 ZNF528 84436 broad.mit.edu 37 19 52918976 52918976 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52918976C>T ENST00000360465.3 + 7 1297 c.871C>T c.(871-873)Cat>Tat p.H291Y ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCAAAGAATTCATACTGGAGA 0.378000 90 88 0 0 0.000781405 0 0 FZD2 2535 broad.mit.edu 37 17 42636136 42636136 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:42636136G>A ENST00000315323.3 + 1 1212 c.1080G>A c.(1078-1080)tgG>tgA p.W360* NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 360 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GCATGAAGTGGGGCCACGAGG 0.622000 50 34 0 0 0.000781405 0 0 ANO3 63982 broad.mit.edu 37 11 26569067 26569067 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:26569067G>A ENST00000256737.3 + 12 2111 c.1259G>A c.(1258-1260)gGa>gAa p.G420E ANO3_ENST00000531568.1_Missense_Mutation_p.G274E|ANO3_ENST00000525139.1_Missense_Mutation_p.G404E|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.G404E NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 420 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TTCTTCTATGGATTATTTACA 0.348000 63 69 0 0 0.000781405 0 0 TSPAN17 26262 broad.mit.edu 37 5 176084625 176084625 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176084625C>T ENST00000310032.8 + 9 1154 c.925C>T c.(925-927)Ccg>Tcg p.P309S TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Missense_Mutation_p.P286S|TSPAN17_ENST00000508164.1_Missense_Mutation_p.P306S|TSPAN17_ENST00000515708.1_3'UTR NM_012171.2|NM_130465.4 NP_036303.1|NP_569732.2 Q96FV3 TSN17_HUMAN tetraspanin 17 161 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ggcccctggcccggccccacc 0.532000 6 20 0 0 0.000157383 0 0 SP100 6672 broad.mit.edu 37 2 231314285 231314285 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:231314285C>T ENST00000264052.5 + 7 951 c.596C>T c.(595-597)cCa>cTa p.P199L SP100_ENST00000340126.4_Missense_Mutation_p.P199L|SP100_ENST00000409112.1_Missense_Mutation_p.P199L|SP100_ENST00000341950.4_Missense_Mutation_p.P199L|SP100_ENST00000427101.2_Missense_Mutation_p.P174L|SP100_ENST00000409341.1_Missense_Mutation_p.P199L|SP100_ENST00000409897.1_Missense_Mutation_p.P164L|SP100_ENST00000409824.1_Missense_Mutation_p.P174L NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 199 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGTACAACCCCACCTGAAAAT 0.473000 21 36 0 0 0.000720815 0 0 CDR1 1038 broad.mit.edu 37 X 139865906 139865906 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:139865906G>A ENST00000370532.2 - 1 817 c.626C>T c.(625-627)tCc>tTc p.S209F NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 209 breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) ACATCTTCCGGAAAAAATCCA 0.443000 51 7 0 0 0.000781405 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77191241 77191241 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:77191241C>T ENST00000426126.2 + 2 770 c.121C>T c.(121-123)Cat>Tat p.H41Y ZDHHC17_ENST00000334822.5_Missense_Mutation_p.H41Y|ZDHHC17_ENST00000359019.4_Intron NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 41 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 CCATTATAACCATGGATATGG 0.343000 17 10 0 0 0.000958276 0 0 TRPM4 54795 broad.mit.edu 37 19 49671183 49671183 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49671183C>T ENST00000252826.5 + 4 403 c.277C>T c.(277-279)Ctc>Ttc p.L93F TRPM4_ENST00000427978.2_Missense_Mutation_p.L93F|TRPM4_ENST00000355712.5_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 93 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GTTCCTCCGGCTCTCTGACCG 0.637000 83 76 0 0 0.000781405 0 0 CUL9 23113 broad.mit.edu 37 6 43166404 43166404 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43166404C>T ENST00000252050.4 + 12 2945 c.2861C>T c.(2860-2862)tCc>tTc p.S954F CUL9_ENST00000354495.3_Missense_Mutation_p.S844F|CUL9_ENST00000372647.2_Missense_Mutation_p.S954F NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 954 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CTGATTCGATCCCTGGTTGGG 0.612000 75 88 0 0 0.000781405 0 0 NLRP10 338322 broad.mit.edu 37 11 7981867 7981867 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:7981867G>A ENST00000328600.2 - 2 1453 c.1292C>T c.(1291-1293)gCt>gTt p.A431V NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 431 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCTGAGCTCAGCTTCTTCAAA 0.527000 30 38 0 0 0.000491102 0 0 MYOM3 127294 broad.mit.edu 37 1 24426247 24426247 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:24426247C>T ENST00000330966.7 - 6 744 c.582G>A c.(580-582)cgG>cgA p.R194R MYOM3_ENST00000329601.7_Silent_p.R193R|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.R193R Q5VTT5 MYOM3_HUMAN myomesin 3 193 Ig-like C2-type 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGGGATCAATCCGTGTGTCAT 0.567000 14 50 0 0 0.00074312 0 0 CSF1R 1436 broad.mit.edu 37 5 149435634 149435634 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:149435634C>T ENST00000286301.3 - 19 2800 c.2509G>A c.(2509-2511)Gac>Aac p.D837N NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 837 Protein kinase. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GACCAGACGTCGCTCTGAACC 0.612000 10 33 0 0 0.000442599 0 0 APLNR 187 broad.mit.edu 37 11 57004301 57004301 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:57004301T>C ENST00000606794.1 - 1 374 c.178A>G c.(178-180)Aag>Gag p.K60E NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 60 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GAGCGCCTCTTCTCCCGGCTG 0.622000 25 14 0 0 0.000720815 0 0 PLCXD1 55344 broad.mit.edu 37 X 205506 205506 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:205506C>T ENST00000381657.2 + 3 748 c.234C>T c.(232-234)cgC>cgT p.R78R PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Silent_p.R78R|PLCXD1_ENST00000381663.3_Silent_p.R78R NM_018390.3 NP_060860.1 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 1 78 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity endometrium(3)|large_intestine(1)|lung(7) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCATCACGCGCCCTGTCGTGC 0.632000 32 8 0 0 0.000491102 0 0 PKNOX2 63876 broad.mit.edu 37 11 125221269 125221269 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:125221269C>T ENST00000298282.9 + 4 339 c.68C>T c.(67-69)cCc>cTc p.P23L PKNOX2_ENST00000530517.1_Intron|PKNOX2_ENST00000542175.1_Missense_Mutation_p.P6S NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 23 Poly-Pro. nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CCGCCCCCACCCTACCAGGAC 0.657000 8 0 0 0 0.000442599 0 0 TSIX 9383 broad.mit.edu 37 X 73046495 73046495 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:73046495C>T ENST00000604411.1 + 0 34456 XIST_ENST00000429829.1_lincRNA NR_003255.2 CTTGGGATTTCCCCAGGTCTT 0.443000 53 6 0 0 0.000781405 0 0 A2M 2 broad.mit.edu 37 12 9248273 9248273 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:9248273C>T ENST00000318602.7 - 16 2182 c.1875G>A c.(1873-1875)aaG>aaA p.K625K NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 625 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CAGTGAGGTCCTTTTCTGGTA 0.353000 35 76 0 0 0.00128727 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19713846 19713846 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:19713846C>T ENST00000397821.3 - 5 694 c.404G>A c.(403-405)tGg>tAg p.W135* SH3KBP1_ENST00000379697.3_Nonsense_Mutation_p.W135*|SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.W98* NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 135 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 ACCTTCCCACCATCCTTCCTC 0.473000 36 2 0 0 0.000692331 0 0 FN1 2335 broad.mit.edu 37 2 216251457 216251457 + Missense_Mutation SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:216251457T>A ENST00000354785.4 - 28 4936 c.4567A>T c.(4567-4569)Aat>Tat p.N1523Y FN1_ENST00000357867.4_Missense_Mutation_p.N1432Y|FN1_ENST00000359671.1_Missense_Mutation_p.N1432Y|FN1_ENST00000346544.3_Missense_Mutation_p.N1432Y|FN1_ENST00000345488.5_Missense_Mutation_p.N1432Y|FN1_ENST00000336916.4_Missense_Mutation_p.N1432Y|FN1_ENST00000323926.6_Missense_Mutation_p.N1523Y|FN1_ENST00000421182.1_Missense_Mutation_p.N1432Y|FN1_ENST00000446046.1_Missense_Mutation_p.N1432Y|FN1_ENST00000443816.1_Missense_Mutation_p.N1432Y|FN1_ENST00000357009.2_Missense_Mutation_p.N1432Y|FN1_ENST00000432072.2_Missense_Mutation_p.N1523Y|FN1_ENST00000356005.4_Missense_Mutation_p.N1432Y P02751 FINC_HUMAN fibronectin 1 1522 Cell-attachment.|Fibronectin type-III 10. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCTGCCATTAAGAGCAACG 0.488000 16 36 0 0 0.000566183 0 0 KCND2 3751 broad.mit.edu 37 7 119915781 119915781 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:119915781C>T ENST00000331113.4 + 1 2060 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 365 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGTATACCATCGTCACCATGA 0.507000 12 79 0 0 0.000219431 0 0 KCNA3 3738 broad.mit.edu 37 1 111216889 111216889 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:111216889G>A ENST00000369769.2 - 1 766 c.543C>T c.(541-543)tcC>tcT p.S181S NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 181 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GGATCTCCTCGGAGAAAATGT 0.667000 24 108 0 0 0.000878237 0 0 MTF1 4520 broad.mit.edu 37 1 38323218 38323218 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:38323218G>A ENST00000373036.4 - 2 253 c.113C>T c.(112-114)tCc>tTc p.S38F MTF1_ENST00000468190.1_5'UTR NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 38 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCCAGATGAGGAAGGCACCAG 0.478000 26 72 0 0 0.00127121 0 0 CATSPER1 117144 broad.mit.edu 37 11 65790384 65790384 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65790384G>A ENST00000312106.5 - 2 1502 c.1365C>T c.(1363-1365)ttC>ttT p.F455F NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 455 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 GGCAGACAACGAAGAAGATGA 0.552000 OREG0021092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 61 0 0 0.00152264 0 0 CUL3 8452 broad.mit.edu 37 2 225360606 225360606 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:225360606G>A ENST00000264414.4 - 13 2123 c.1785C>T c.(1783-1785)tcC>tcT p.S595S CUL3_ENST00000409777.1_Silent_p.S571S|CUL3_ENST00000344951.4_Silent_p.S529S|CUL3_ENST00000409096.1_Silent_p.S571S NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 595 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCTGGAAAGTGGAAACTTGCA 0.328000 59 47 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196822153 196822153 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:196822153G>A ENST00000312428.6 - 19 3010 c.2910C>T c.(2908-2910)ctC>ctT p.L970L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 970 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAAGCAGTAGGAGCTTGCCCT 0.458000 23 22 0 0 0.000586117 0 0 NPAT 4863 broad.mit.edu 37 11 108031638 108031638 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:108031638G>A ENST00000278612.8 - 17 4280 c.4175C>T c.(4174-4176)tCa>tTa p.S1392L NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1392 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TGGTATTGATGAATTTGTAAG 0.338000 24 0 0 0 0.000586117 0 0 HTR3A 3359 broad.mit.edu 37 11 113857256 113857256 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:113857256G>A ENST00000504030.2 + 7 1167 c.722G>A c.(721-723)cGg>cAg p.R241Q HTR3A_ENST00000506841.2_Missense_Mutation_p.R241Q|HTR3A_ENST00000299961.5_Missense_Mutation_p.R226Q|HTR3A_ENST00000375498.2_Missense_Mutation_p.R247Q|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.R247Q P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 241 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) ATCCGCCGGCGGCCCCTCTTC 0.612000 46 8 0 0 0.000781405 0 0 CACNA1G 8913 broad.mit.edu 37 17 48703397 48703397 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:48703397C>T ENST00000352832.5 + 34 6410 c.6038C>T c.(6037-6039)tCc>tTc p.S2013F CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2054F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2024F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2040F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2029F|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2106F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2006F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2095F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2084F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2129F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2077F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2061F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S2013F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2013F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1990F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S2047F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2002F|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2036F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1995F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2069F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2140F|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2022F|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S2036F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2047F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2050F NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2140 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGGACTGACTCCTTGGACGTT 0.652000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 31 0 0 0.000589545 0 0 TJP3 27134 broad.mit.edu 37 19 3733818 3733818 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3733818G>A ENST00000541714.2 + 7 1247 c.785G>A c.(784-786)gGg>gAg p.G262E TJP3_ENST00000262968.9_Missense_Mutation_p.G281E|TJP3_ENST00000539908.2_Missense_Mutation_p.G226E|TJP3_ENST00000589378.1_Missense_Mutation_p.G271E|TJP3_ENST00000382008.3_Missense_Mutation_p.G262E|TJP3_ENST00000587686.1_Missense_Mutation_p.G281E NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 262 PDZ 2. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) AAGTCAGAAGGGAAGCTAAGC 0.562000 44 81 0 0 0.00170553 0 0 IBSP 3381 broad.mit.edu 37 4 88731890 88731890 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:88731890T>C ENST00000226284.5 + 6 446 c.379T>C c.(379-381)Tta>Cta p.L127L NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 127 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) GTATACAGGGTTAGCTGCAAT 0.403000 25 26 0 0 0.000878237 0 0 EPPK1 83481 broad.mit.edu 37 8 144942631 144942631 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:144942631C>T ENST00000525985.1 - 2 4862 c.4791G>A c.(4789-4791)cgG>cgA p.R1597R P58107 EPIPL_HUMAN epiplakin 1 1597 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGTGCCAGGCCGCAGGATGT 0.642000 25 19 0 0 0.000586117 0 0 SFRP2 6423 broad.mit.edu 37 4 154709599 154709599 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:154709599G>A ENST00000274063.4 - 1 673 c.389C>T c.(388-390)tCc>tTc p.S130F NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 130 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) GCCGAAGGCGGACATGACCGG 0.652000 26 9 0 0 0.000878237 0 0 FLT1 2321 broad.mit.edu 37 13 28919595 28919595 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:28919595C>T ENST00000282397.4 - 16 2593 c.2342G>A c.(2341-2343)cGa>cAa p.R781Q FLT1_ENST00000540678.1_5'UTR NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 781 R -> Q (in a glioma low grade oligodendroglioma sample; somatic mutation). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.R781Q(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TTTCATTTTTCGGATAAAGAG 0.423000 4 15 0 0 0.00024832 0 0 RGPD4 285190 broad.mit.edu 37 2 108507182 108507182 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:108507182G>A ENST00000408999.3 + 23 5349 c.5272G>A c.(5272-5274)Gaa>Aaa p.E1758K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1758 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CAAAGGTGAGGAATAAAATGC 0.303000 21 26 0 0 0.00106085 0 0 ADCY3 109 broad.mit.edu 37 2 25141596 25141596 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:25141596G>A ENST00000260600.5 - 1 1112 c.261C>T c.(259-261)ctC>ctT p.L87L NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 87 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) AGCAGTCAAAGAGGGCTGCAA 0.577000 55 27 0 0 0.000781405 0 0 SFSWAP 6433 broad.mit.edu 37 12 132209997 132209997 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:132209997C>T ENST00000261674.4 + 5 795 c.654C>T c.(652-654)ttC>ttT p.F218F SFSWAP_ENST00000541286.1_Silent_p.F218F NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 218 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 CGGCCAGCTTCGTGTGCAGGC 0.562000 15 46 0 0 0.00121646 0 0 FAM83E 54854 broad.mit.edu 37 19 49107042 49107042 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49107042G>A ENST00000263266.3 - 4 1074 c.885C>T c.(883-885)ccC>ccT p.P295P NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 295 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GTTTCTGGGGGGGCGCAGGTG 0.721000 7 5 0 0 0.00198382 0 0 NCALD 83988 broad.mit.edu 37 8 102701627 102701627 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:102701627G>A ENST00000395923.1 - 6 951 c.492C>T c.(490-492)ctC>ctT p.L164L NCALD_ENST00000311028.3_Silent_p.L164L|NCALD_ENST00000522951.1_Intron|NCALD_ENST00000220931.6_Silent_p.L164L|NCALD_ENST00000519508.2_Silent_p.L164L|NCALD_ENST00000521599.1_Silent_p.L164L NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1 NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1 P61601 NCALD_HUMAN neurocalcin delta 164 EF-hand 4. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) CTTCCAGGGAGAGTTTTCCTA 0.607000 9 10 0 0 0.000274275 0 0 TXNRD1 7296 broad.mit.edu 37 12 104713318 104713318 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:104713318C>T ENST00000526691.1 + 7 1106 c.650C>T c.(649-651)cCa>cTa p.P217L TXNRD1_ENST00000525566.1_Missense_Mutation_p.P315L|TXNRD1_ENST00000503506.2_Missense_Mutation_p.P165L|TXNRD1_ENST00000429002.2_Missense_Mutation_p.P315L|TXNRD1_ENST00000427956.1_Missense_Mutation_p.P280L|TXNRD1_ENST00000397736.2_Missense_Mutation_p.P209L|TXNRD1_ENST00000388854.3_Missense_Mutation_p.P217L|TXNRD1_ENST00000378070.4_Missense_Mutation_p.P264L|TXNRD1_ENST00000524698.1_Missense_Mutation_p.P165L|TXNRD1_ENST00000354940.6_Missense_Mutation_p.P165L|TXNRD1_ENST00000542918.1_Missense_Mutation_p.P215L|TXNRD1_ENST00000540716.1_Missense_Mutation_p.P127L|TXNRD1_ENST00000529546.1_Missense_Mutation_p.P127L|TXNRD1_ENST00000526950.1_Missense_Mutation_p.P234L|TXNRD1_ENST00000526390.1_Missense_Mutation_p.P209L NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 315 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 GGTGAAAGACCACGTTACTTG 0.388000 8 7 0 0 0.000673444 0 0 OR13C5 138799 broad.mit.edu 37 9 107361416 107361416 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:107361416G>A ENST00000374779.2 - 1 372 c.279C>T c.(277-279)tcC>tcT p.S93S NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AGCCAGAAAGGGAAATGGTCT 0.517000 14 2 0 0 0.000422831 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29907160 29907160 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:29907160G>A ENST00000308713.5 - 4 1060 c.533C>T c.(532-534)tCc>tTc p.S178F SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S108F|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S134F|SEZ6L2_ENST00000346932.5_Intron NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 178 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTCGCCCTCGGAGATGTTGTT 0.562000 36 27 0 0 0.000509022 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32974859 32974859 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32974859G>A ENST00000229829.5 - 4 822 c.747C>T c.(745-747)ccC>ccT p.P249P HLA-DOA_ENST00000450833.2_Intron NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 249 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 CTCTGCACCTGGGGACACTGG 0.612000 62 61 0 0 0.000781405 0 0 SCNN1A 6337 broad.mit.edu 37 12 6463683 6463683 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:6463683C>T ENST00000358945.3 - 7 1721 c.1281G>A c.(1279-1281)aaG>aaA p.K427K SCNN1A_ENST00000360168.3_Silent_p.K486K|SCNN1A_ENST00000396966.2_Silent_p.K427K|SCNN1A_ENST00000543768.1_Silent_p.K450K|SCNN1A_ENST00000538979.1_5'UTR|SCNN1A_ENST00000540037.1_Silent_p.K127K|SCNN1A_ENST00000228916.2_Silent_p.K427K P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 427 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) AGCCACACTCCTTGATCATGC 0.577000 24 11 0 0 0.000375601 0 0 FPR3 2359 broad.mit.edu 37 19 52327322 52327322 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52327322C>T ENST00000339223.4 + 2 500 c.321C>T c.(319-321)atC>atT p.I107I FPR3_ENST00000595991.1_Silent_p.I107I NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 107 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TGATAGACATCAACCTGTTTG 0.478000 11 88 0 0 0.00136819 0 0 EDARADD 128178 broad.mit.edu 37 1 236645630 236645630 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:236645630C>T ENST00000359362.5 + 6 513 c.299C>T c.(298-300)cCc>cTc p.P100L EDARADD_ENST00000334232.4_Missense_Mutation_p.P110L NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 110 cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CTCCGGGCCCCCACCATAAGT 0.478000 41 20 0 0 0.00222228 0 0 POU5F1 5460 broad.mit.edu 37 6 31138066 31138066 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31138066G>A ENST00000259915.8 - 1 404 c.332C>T c.(331-333)tCc>tTc p.S111F POU5F1_ENST00000441888.3_Intron NM_002701.4 NP_002692.2 Q01860 PO5F1_HUMAN POU class 5 homeobox 1 111 anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 GGGCTCCGGGGAGGCCCCATC 0.662000 T EWSR1 sarcoma 21 25 0 0 0.00152264 0 0 TPD52 7163 broad.mit.edu 37 8 80962685 80962685 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:80962685G>A ENST00000518937.1 - 5 623 c.408C>T c.(406-408)tcC>tcT p.S136S TPD52_ENST00000520527.1_Silent_p.S176S|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000537855.1_Intron|TPD52_ENST00000523395.1_Intron|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000448733.2_Intron|TPD52_ENST00000379097.3_Intron|TPD52_ENST00000517427.1_Silent_p.S176S NM_001025253.1 NP_001020424.1 P55327 TPD52_HUMAN tumor protein D52 169 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) CTTACCTAAAGGAATGTGAAA 0.348000 15 11 0 0 0.00074312 0 0 DMD 1756 broad.mit.edu 37 X 31222096 31222096 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:31222096G>A ENST00000357033.4 - 67 9995 c.9789C>T c.(9787-9789)gtC>gtT p.V3263V DMD_ENST00000541735.1_Silent_p.V803V|DMD_ENST00000378677.2_Silent_p.V3259V|DMD_ENST00000378707.3_Silent_p.V803V|DMD_ENST00000378702.4_Silent_p.V195V|DMD_ENST00000343523.2_Silent_p.V803V|DMD_ENST00000378723.3_Silent_p.V195V|DMD_ENST00000474231.1_Silent_p.V803V|DMD_ENST00000378680.2_Silent_p.V195V|DMD_ENST00000361471.4_Silent_p.V195V|DMD_ENST00000359836.1_Silent_p.V803V NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3263 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGCAGCTCCGGACACTTGGCT 0.413000 30 1 0 0 0.000692331 0 0 ZNF385C 201181 broad.mit.edu 37 17 40180127 40180127 + Missense_Mutation SNP G G A rs147945853 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:40180127G>A ENST00000436535.3 - 6 1108 c.1108C>T c.(1108-1110)Cct>Tct p.P370S ZNF385C_ENST00000461831.1_5'UTR zinc finger protein 385C lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 3 all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126) TGGAAGGCAGGGCTGGGCCCC 0.682000 53 3 0 0 0.000781405 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259920 40259920 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:40259920C>T ENST00000263791.5 + 9 1436 c.1393C>T c.(1393-1395)Cgt>Tgt p.R465C EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R465C|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R465C NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 465 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity p.R465C(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AACCCGAGTTCGTTTTAGTGA 0.498000 44 52 0 0 0.000781405 0 0 SLC9C2 284525 broad.mit.edu 37 1 173523904 173523904 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:173523904G>A ENST00000367714.3 - 11 1687 c.1265C>T c.(1264-1266)tCa>tTa p.S422L SLC9C2_ENST00000536496.1_Missense_Mutation_p.S320L|SLC9C2_ENST00000466087.1_Intron NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 422 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CATCACGTATGAATTTATTCC 0.323000 40 121 0 0 0.000781405 0 0 KIAA1033 23325 broad.mit.edu 37 12 105514922 105514922 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:105514922C>T ENST00000332180.5 + 9 692 c.605C>T c.(604-606)aCc>aTc p.T202I NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 202 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 GTTTTGCTCACCCTGGATGAA 0.328000 7 41 0 0 0.000442599 0 0 PXDN 7837 broad.mit.edu 37 2 1652195 1652195 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1652195C>T ENST00000252804.4 - 17 3407 c.3357G>A c.(3355-3357)agG>agA p.R1119R NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1119 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGAACAGCCCCCTGAGAAGCG 0.597000 13 25 0 0 0.00185496 0 0 ADH4 127 broad.mit.edu 37 4 100063877 100063877 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:100063877C>T ENST00000508393.1 - 3 295 c.130G>A c.(130-132)Gaa>Aaa p.E44K ADH4_ENST00000265512.7_Missense_Mutation_p.E25K|ADH4_ENST00000423445.1_Missense_Mutation_p.E44K|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000505590.1_Missense_Mutation_p.E44K P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 25 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) TCAACCTCTTCAATGCAAAGG 0.493000 23 27 0 0 0.00106085 0 0 FAM83B 222584 broad.mit.edu 37 6 54805566 54805566 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:54805566C>T ENST00000306858.7 + 5 1913 c.1797C>T c.(1795-1797)atC>atT p.I599I NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 599 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) CAGAATCAATCCCCAAGCTCC 0.473000 29 30 0 0 0.00178596 0 0 SUCLG2 8801 broad.mit.edu 37 3 67426209 67426209 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:67426209C>T ENST00000307227.5 - 11 1285 c.1258G>A c.(1258-1260)Gat>Aat p.D420N SUCLG2_ENST00000493112.1_Intron NM_003848.3 NP_003839.2 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming, beta subunit 420 succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 10 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) TTGGCTGCATCCTCCAGGTCA 0.502000 17 6 0 0 0.00152264 0 0 RBP2 5948 broad.mit.edu 37 3 139181108 139181108 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:139181108A>G ENST00000232217.2 - 2 154 c.98T>C c.(97-99)aTt>aCt p.I33T RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular 33 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) ACGTACTGCAATCTTGCGGGT 0.418000 50 51 0 0 0.000781405 0 0 ATP1A3 478 broad.mit.edu 37 19 42474558 42474558 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:42474558G>A ENST00000545399.1 - 17 2592 c.2439C>T c.(2437-2439)atC>atT p.I813I ATP1A3_ENST00000543770.1_Silent_p.I811I|ATP1A3_ENST00000602133.1_Silent_p.I770I|ATP1A3_ENST00000302102.5_Silent_p.I800I NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 800 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGCCCAGATCGATGCAGAGGA 0.647000 15 14 0 0 0.000422831 0 0 MYO5B 4645 broad.mit.edu 37 18 47463690 47463690 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:47463690C>T ENST00000285039.7 - 15 2129 c.1830G>A c.(1828-1830)tcG>tcA p.S610S NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 610 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CGCTGATCTTCGAAGATGACC 0.532000 33 61 0 0 0.000692331 0 0 FLNC 2318 broad.mit.edu 37 7 128483517 128483517 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:128483517G>A ENST00000325888.8 + 18 2958 c.2697G>A c.(2695-2697)aaG>aaA p.K899K FLNC_ENST00000346177.6_Silent_p.K899K NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 899 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GAGCCGGCAAGGCCAAGCTGG 0.582000 17 37 0 0 0.00074312 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171024 207171024 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:207171024C>T ENST00000374423.3 + 5 2158 c.1772C>T c.(1771-1773)tCa>tTa p.S591L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 591 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCTCTTGAGTCAGTAGTTGAT 0.403000 15 22 0 0 0.000308642 0 0 TTI1 9675 broad.mit.edu 37 20 36624820 36624820 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:36624820G>A ENST00000373448.2 - 8 3281 c.3043C>T c.(3043-3045)Ctc>Ttc p.L1015F TTI1_ENST00000449821.1_Missense_Mutation_p.L1015F|TTI1_ENST00000373447.3_Missense_Mutation_p.L1015F NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 1015 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TTGACACTGAGGTAAATCAAG 0.453000 31 87 0 0 0.00170553 0 0 IFNB1 3456 broad.mit.edu 37 9 21077570 21077570 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:21077570C>T ENST00000380232.2 - 1 373 c.299G>A c.(298-300)tGg>tAg p.W100* NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 100 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) AGTCTCATTCCAGCCAGTGCT 0.443000 71 9 0 0 0.000781405 0 0 MYRF 745 broad.mit.edu 37 11 61543821 61543821 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:61543821G>A ENST00000278836.5 + 10 1512 c.1416G>A c.(1414-1416)acG>acA p.T472T MYRF_ENST00000327797.1_Silent_p.T97T|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.T463T NM_001127392.1 NP_001120864.1 myelin regulatory factor AGCAGGTCACGAAGGTGACTG 0.657000 OREG0021012 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 6 0 0 0.000442599 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656542 40656542 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:40656542C>T ENST00000406785.1 - 2 1068 c.879G>A c.(877-879)ggG>ggA p.G293G SLC8A1_ENST00000405269.1_Silent_p.G293G|SLC8A1_ENST00000542756.1_Silent_p.G293G|SLC8A1_ENST00000542024.1_Silent_p.G293G|SLC8A1_ENST00000405901.3_Silent_p.G293G|SLC8A1_ENST00000403092.1_Silent_p.G293G|SLC8A1_ENST00000402441.1_Silent_p.G293G|SLC8A1_ENST00000408028.2_Silent_p.G293G|SLC8A1_ENST00000332839.4_Silent_p.G293G|SLC8A1_ENST00000406391.2_Silent_p.G293G P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 293 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGACCACTTTCCCGTCCATTT 0.448000 101 84 0 0 0.000781405 0 0 THSD7B 80731 broad.mit.edu 37 2 137814319 137814319 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:137814319G>A ENST00000409968.1 + 3 647 c.469G>A c.(469-471)Gaa>Aaa p.E157K THSD7B_ENST00000543459.1_Missense_Mutation_p.E16K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E157K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E126K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGTTGCAAATGAAATATGCGA 0.522000 57 76 0 0 0.000781405 0 0 OR9A4 130075 broad.mit.edu 37 7 141619558 141619558 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141619558G>A ENST00000548136.1 + 1 942 c.883G>A c.(883-885)Gat>Aat p.D295N MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CCTCCGGAATGATAAAGTCAT 0.458000 84 33 0 0 0.000781405 0 0 TEX15 56154 broad.mit.edu 37 8 30705720 30705720 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:30705720G>A ENST00000256246.2 - 1 888 c.814C>T c.(814-816)Cca>Tca p.P272S NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 272 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTATCTATTGGACTGATTTTT 0.313000 17 63 0 0 0.00121646 0 0 CYTIP 9595 broad.mit.edu 37 2 158283904 158283904 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:158283904G>A ENST00000264192.3 - 6 626 c.505C>T c.(505-507)Ctg>Ttg p.L169L CYTIP_ENST00000540637.1_Silent_p.L63L NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 169 Interaction with CYTH1. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GTTCTTTTCAGAATCATTGTT 0.353000 20 22 0 0 0.00229938 0 0 MUC16 94025 broad.mit.edu 37 19 9056795 9056795 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9056795G>A ENST00000397910.4 - 3 30854 c.30651C>T c.(30649-30651)gcC>gcT p.A10217A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10219 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TATACTGTGAGGCTGGAGGCC 0.468000 21 44 0 0 0.00188189 0 0 TDRP 157695 broad.mit.edu 37 8 442449 442449 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:442449G>A ENST00000324079.6 - 3 748 c.508C>T c.(508-510)Cga>Tga p.R170* TDRP_ENST00000523656.1_Intron|TDRP_ENST00000427263.2_Intron testis development related protein CTCTGCCGTCGGATGCTCACC 0.642000 14 7 0 0 0.000422831 0 0 CKAP5 9793 broad.mit.edu 37 11 46766034 46766034 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:46766034G>A ENST00000529230.1 - 43 5844 c.5798C>T c.(5797-5799)tCt>tTt p.S1933F CKAP5_ENST00000354558.3_Missense_Mutation_p.S1873F|CKAP5_ENST00000415402.1_Missense_Mutation_p.S1940F|CKAP5_ENST00000312055.5_Missense_Mutation_p.S1873F Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1933 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CAAGTAGACAGATGGCCCCAC 0.522000 28 67 0 0 0.000720815 0 0 LAMA1 284217 broad.mit.edu 37 18 6956713 6956713 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:6956713G>A ENST00000389658.3 - 56 8109 c.8016C>T c.(8014-8016)acC>acT p.T2672T RP11-781P6.1_ENST00000584722.1_RNA NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2672 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACAGCCAGCAGGTGTCCAGGT 0.502000 52 9 0 0 0.000781405 0 0 AMZ1 155185 broad.mit.edu 37 7 2749363 2749363 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:2749363G>A ENST00000407112.1 + 5 1004 c.691G>A c.(691-693)Ggc>Agc p.G231S AMZ1_ENST00000312371.4_Silent_p.E287E|AMZ1_ENST00000489665.1_3'UTR Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 227 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GCCTGGACGAGGCCCTGCGGC 0.667000 OREG0017838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 27 0 0 0.000375601 0 0 NWD1 284434 broad.mit.edu 37 19 16870130 16870130 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:16870130G>A ENST00000524140.2 + 7 2282 c.1864G>A c.(1864-1866)Gag>Aag p.E622K NWD1_ENST00000552788.1_Missense_Mutation_p.E622K|NWD1_ENST00000549814.1_Missense_Mutation_p.E622K|NWD1_ENST00000523826.1_Missense_Mutation_p.E416K|NWD1_ENST00000339803.6_Missense_Mutation_p.E487K|NWD1_ENST00000379808.3_Missense_Mutation_p.E622K NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 622 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCCCAGCAAGGAGCTGCTGCG 0.642000 7 25 0 0 0.000157383 0 0 GRIK1 2897 broad.mit.edu 37 21 30949459 30949459 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:30949459C>A ENST00000399914.1 - 13 2431 c.1910G>T c.(1909-1911)gGa>gTa p.G637V GRIK1_ENST00000399913.1_Missense_Mutation_p.G652V|GRIK1_ENST00000535441.1_Missense_Mutation_p.G654V|GRIK1_ENST00000389125.3_Missense_Mutation_p.G637V|GRIK1_ENST00000389124.2_Missense_Mutation_p.G652V|GRIK1_ENST00000309434.7_Missense_Mutation_p.G654V|GRIK1_ENST00000399907.1_Missense_Mutation_p.G652V|GRIK1_ENST00000399909.1_Missense_Mutation_p.G637V|GRIK1_ENST00000327783.4_Missense_Mutation_p.G652V P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 652 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CCATATCCCTCCAACTATTCT 0.458000 24 72 7.92952e-12 3.80737e-11 0.000586117 1 0 PRR12 57479 broad.mit.edu 37 19 50098089 50098089 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50098089C>T ENST00000418929.2 + 4 509 c.497C>T c.(496-498)tCg>tTg p.S166L NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 579 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCAGTGCCCTCGTCCCTCAGC 0.672000 7 31 0 0 0.00198382 0 0 TTF1 7270 broad.mit.edu 37 9 135266135 135266135 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:135266135G>A ENST00000334270.2 - 7 2110 c.2071C>T c.(2071-2073)Ccc>Tcc p.P691S NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 691 Myb-like 2. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) AACTCCTGGGGAGACATCTTC 0.408000 97 19 0 0 0.000781405 0 0 SOGA1 140710 broad.mit.edu 37 20 35422902 35422902 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:35422902G>A ENST00000237536.4 - 14 3924 c.3583C>T c.(3583-3585)Cct>Tct p.P1195S SOGA1_ENST00000357779.3_Missense_Mutation_p.P957S|SOGA1_ENST00000279034.5_Missense_Mutation_p.P957S|SOGA1_ENST00000456801.2_Missense_Mutation_p.P798S NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 957 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCAAAGGCAGGGTTGTTAGGC 0.557000 50 157 0 0 0.000781405 0 0 SLC12A8 84561 broad.mit.edu 37 3 124906251 124906251 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:124906251C>T ENST00000423114.2 - 4 306 c.307G>A c.(307-309)Ggc>Agc p.G103S SLC12A8_ENST00000393469.4_Missense_Mutation_p.G74S|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.G74S A0AV02 S12A8_HUMAN solute carrier family 12, member 8 74 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 AGGAACATGCCCAGGAGCACT 0.627000 17 20 0 0 0.000375601 0 0 OSBP2 23762 broad.mit.edu 37 22 31091280 31091280 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:31091280C>T ENST00000332585.6 + 1 488 c.384C>T c.(382-384)tcC>tcT p.S128S OSBP2_ENST00000382310.3_Silent_p.S128S|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Silent_p.S128S|OSBP2_ENST00000407373.1_Intron NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 128 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGCCGCTCTCCCGGGCGGTGG 0.667000 38 41 0 0 0.00128727 0 0 PDE4B 5142 broad.mit.edu 37 1 66713166 66713166 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:66713166C>T ENST00000423207.2 + 2 745 c.260C>T c.(259-261)tCc>tTc p.S87F PDE4B_ENST00000371049.3_Missense_Mutation_p.S102F|PDE4B_ENST00000329654.4_Missense_Mutation_p.S102F NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 102 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) AATGGCCCTTCCCCAGGTCGG 0.532000 175 89 0 0 0.000781405 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1148074 1148074 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:1148074G>A ENST00000379236.3 - 4 385 c.381C>T c.(379-381)ccC>ccT p.P127P TNFRSF4_ENST00000453580.1_5'UTR NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 127 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGGAGGGCAGGGGGCACAGT 0.706000 7 0 0 0 0.000274275 0 0 TGM6 343641 broad.mit.edu 37 20 2375099 2375099 + Splice_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:2375099G>A ENST00000202625.2 + 2 70 c.7_splice c.e2-1 p.G3_splice TGM6_ENST00000381423.1_Splice_Site_p.G3_splice|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 3 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CCCACCCAGGGATCAGAGTCA 0.612000 11 29 0 0 0.00136819 0 0 ZNF808 388558 broad.mit.edu 37 19 53056970 53056970 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53056970C>T ENST00000359798.4 + 5 981 c.801C>T c.(799-801)ctC>ctT p.L267L NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GTGGCAAGCTCTTTAATCACA 0.398000 34 194 0 0 0.00058488 0 0 MPL 4352 broad.mit.edu 37 1 43805060 43805060 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:43805060C>T ENST00000372470.3 + 4 552 c.510C>T c.(508-510)cgC>cgT p.R170R MPL_ENST00000413998.2_Silent_p.R170R NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 170 Fibronectin type-III 1. cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACGAACTCCGCTATGGCCCCA 0.572000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 57 21 0 0 0.000781405 0 0 OGDH 4967 broad.mit.edu 37 7 44714019 44714019 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:44714019G>A ENST00000222673.5 + 7 840 c.798G>A c.(796-798)gaG>gaA p.E266E OGDH_ENST00000543843.1_Silent_p.E217E|OGDH_ENST00000439616.2_Silent_p.E116E|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000443864.2_Silent_p.E266E|OGDH_ENST00000449767.1_Silent_p.E262E|OGDH_ENST00000447398.1_Silent_p.E277E|OGDH_ENST00000444676.1_Silent_p.E281E NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 266 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GGTTTGAGGAGTTCCTACAGC 0.537000 54 51 0 0 0.000781405 0 0 GPR158 57512 broad.mit.edu 37 10 25887866 25887866 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:25887866G>A ENST00000376351.3 + 11 3670 c.3311G>A c.(3310-3312)gGa>gAa p.G1104E GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1104 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAGGAGAACGGAGGTCAGCCT 0.493000 26 68 0 0 0.000720815 0 0 SGOL2 151246 broad.mit.edu 37 2 201436643 201436643 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201436643C>T ENST00000357799.4 + 7 1672 c.1574C>T c.(1573-1575)tCc>tTc p.S525F NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 525 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 GGTCAGAATTCCCTAACTTGT 0.323000 101 81 0 0 0.000781405 0 0 ABCB11 8647 broad.mit.edu 37 2 169780212 169780212 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:169780212C>T ENST00000263817.6 - 28 4010 c.3886G>A c.(3886-3888)Gaa>Aaa p.E1296K NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1296 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GTCCCCTTTTCAATCACCACC 0.517000 27 20 0 0 0.000878237 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186880420 186880420 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:186880420C>T ENST00000367466.3 + 7 609 c.457C>T c.(457-459)Cag>Tag p.Q153* PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Intron NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 153 PLA2c.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TCTGTGTGATCAGGAGAAGAC 0.448000 55 46 0 0 0.000781405 0 0 MYO18B 84700 broad.mit.edu 37 22 26423593 26423593 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:26423593G>A ENST00000335473.7 + 43 7903 c.7653G>A c.(7651-7653)ggG>ggA p.G2551G MYO18B_ENST00000407587.2_Silent_p.G2552G|MYO18B_ENST00000536101.1_Silent_p.G2551G NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2551 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGGGACGGGGAGGAAAGACG 0.547000 19 22 0 0 0.00121646 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612670 96612670 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:96612670G>A ENST00000371321.3 + 9 1554 c.1472G>A c.(1471-1473)tGa>tAa p.*491* CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 0 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) ATTCCTGTCTGAAGAAGCACA 0.493000 50 4 0 0 0.000781405 0 0 BCL11B 64919 broad.mit.edu 37 14 99723935 99723935 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:99723935G>A ENST00000345514.2 - 2 566 c.300C>T c.(298-300)ccC>ccT p.P100P BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Silent_p.P100P NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 499 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) AGCGTGAGGAGGGTGGCGGGC 0.597000 T TLX3 T-ALL 10 45 0 0 0.00136819 0 0 PIDD 55367 broad.mit.edu 37 11 804258 804258 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:804258G>A ENST00000347755.5 - 2 272 c.131C>T c.(130-132)cCc>cTc p.P44L PIDD_ENST00000411829.2_Missense_Mutation_p.P44L|PIDD_ENST00000534649.1_5'UTR NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 44 apoptosis|signal transduction cytoplasm|nucleus death receptor binding GCAGCCCCCGGGGTACAGGTC 0.652000 4 13 0 0 0.000602214 0 0 MORN1 79906 broad.mit.edu 37 1 2268200 2268200 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:2268200G>A ENST00000378531.3 - 11 1299 c.1126C>T c.(1126-1128)Ccg>Tcg p.P376S MORN1_ENST00000606372.1_5'UTR NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 376 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) TACCCAGGCGGGGGCGGCCCC 0.682000 8 32 0 0 0.000673444 0 0 ZNF251 90987 broad.mit.edu 37 8 145947718 145947718 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145947718G>A ENST00000292562.7 - 5 1602 c.1327C>T c.(1327-1329)Cgt>Tgt p.R443C ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) GAACTCCGACGAAAGGCTTTG 0.488000 47 85 0 0 0.000589545 0 0 MAPK11 5600 broad.mit.edu 37 22 50705058 50705058 + Silent SNP G G A rs68010686 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:50705058G>A ENST00000449719.2 - 6 927 c.591C>T c.(589-591)gtC>gtT p.V197V MAPK11_ENST00000330651.6_Intron Q15759 MK11_HUMAN mitogen-activated protein kinase 11 0 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGGGCGAGGGGACCTCCATCA 0.637000 16 17 0 0 0.000308642 0 0 C2orf16 84226 broad.mit.edu 37 2 27803388 27803388 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:27803388G>A ENST00000408964.2 + 1 4000 c.3949G>A c.(3949-3951)Gaa>Aaa p.E1317K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1317 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TCCTTCTAGGGAATTAGCAGC 0.398000 19 41 0 0 0.00121646 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376333 75376333 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:75376333C>T ENST00000555647.1 - 8 1470 c.1183G>A c.(1183-1185)Gag>Aag p.E395K RPS6KL1_ENST00000358328.4_Missense_Mutation_p.E395K|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.E364K|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.E395K Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 395 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) ACCAGCATCTCTGCCGCCCAC 0.687000 21 50 0 0 0.00047179 0 0 CD226 10666 broad.mit.edu 37 18 67614097 67614097 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:67614097C>T ENST00000280200.4 - 3 523 c.255G>A c.(253-255)acG>acA p.T85T CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Silent_p.T85T NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 85 Ig-like C2-type 1. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) TGGAAGCCATCGTTGAATTCA 0.458000 29 27 0 0 0.001512 0 0 CHD9 80205 broad.mit.edu 37 16 53352166 53352166 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:53352166C>T ENST00000566029.1 + 37 7788 c.7579C>T c.(7579-7581)Cgt>Tgt p.R2527C CHD9_ENST00000447540.1_Missense_Mutation_p.R2528C|CHD9_ENST00000398510.3_Missense_Mutation_p.R2543C|CHD9_ENST00000564845.1_Missense_Mutation_p.R2527C Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2543 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) AAAAAGACACCGTTGCAGAAA 0.333000 15 27 0 0 0.000422831 0 0 SPATA9 83890 broad.mit.edu 37 5 95011280 95011280 + Nonsense_Mutation SNP G G A rs114848300 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:95011280G>A ENST00000274432.8 - 3 355 c.214C>T c.(214-216)Cga>Tga p.R72* RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Nonsense_Mutation_p.R72* NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 72 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) AATGTTGCTCGATTAATCTTA 0.393000 42 30 0 0 0.000680045 0 0 SYCP1 6847 broad.mit.edu 37 1 115523998 115523998 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:115523998G>A ENST00000369522.3 + 29 2664 c.2424G>A c.(2422-2424)tgG>tgA p.W808* SYCP1_ENST00000369518.1_Nonsense_Mutation_p.W808*|SYCP1_ENST00000477590.1_3'UTR NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 808 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATTTATTGGAAATTGGATT 0.303000 75 50 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9088106 9088106 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9088106G>A ENST00000397910.4 - 1 3912 c.3709C>T c.(3709-3711)Cca>Tca p.P1237S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1237 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGAGGGTTGGAAGTCCCCCT 0.507000 83 204 0 0 0.000781405 0 0 OPLAH 26873 broad.mit.edu 37 8 145111949 145111949 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:145111949G>A ENST00000426825.1 - 12 1689 c.1608C>T c.(1606-1608)tcC>tcT p.S536S OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 536 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CGTAGAGCAGGGAGCAGGGTT 0.672000 4 13 0 0 0.000602214 0 0 ZNF74 7625 broad.mit.edu 37 22 20760622 20760622 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:20760622C>T ENST00000400451.2 + 5 1813 c.1299C>T c.(1297-1299)ctC>ctT p.L433L ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Silent_p.L433L|ZNF74_ENST00000405993.1_Silent_p.L401L NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 433 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCCTCACCCTCCACCAGAGGA 0.642000 22 39 0 0 0.00152264 0 0 SLC29A1 2030 broad.mit.edu 37 6 44199741 44199741 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:44199741G>A ENST00000393841.1 + 11 1362 c.871G>A c.(871-873)Gtc>Atc p.V291I SLC29A1_ENST00000313248.7_Missense_Mutation_p.V370I|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V291I|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V291I|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V291I|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V291I NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 291 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) CTAGATCTCAGTCCTGGCTTT 0.527000 24 33 0 0 0.00047179 0 0 MIIP 60672 broad.mit.edu 37 1 12082369 12082369 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:12082369C>T ENST00000235332.4 + 3 501 c.332C>T c.(331-333)cCc>cTc p.P111L MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.P111L NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 111 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CGACCGAGACCCCACTCAGCA 0.682000 47 4 0 0 0.000781405 0 0 NEDD4L 23327 broad.mit.edu 37 18 56008369 56008369 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:56008369C>T ENST00000456986.1 + 14 1462 c.862C>T c.(862-864)Cga>Tga p.R288* NEDD4L_ENST00000256832.7_Nonsense_Mutation_p.R268*|NEDD4L_ENST00000435432.2_Nonsense_Mutation_p.R268*|NEDD4L_ENST00000431212.2_Nonsense_Mutation_p.R288*|NEDD4L_ENST00000357895.5_Nonsense_Mutation_p.R401*|NEDD4L_ENST00000382850.4_Nonsense_Mutation_p.R389*|NEDD4L_ENST00000400345.3_Nonsense_Mutation_p.R409*|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000586263.1_Nonsense_Mutation_p.R381*|NEDD4L_ENST00000456173.2_Nonsense_Mutation_p.R268*|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_Intron NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 409 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 TCATAACAATCGAACCACAAC 0.488000 14 8 0 0 0.000308642 0 0 LPA 4018 broad.mit.edu 37 6 161006193 161006193 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:161006193C>T ENST00000447678.1 - 27 4294 c.4174G>A c.(4174-4176)Gat>Aat p.D1392N LPA_ENST00000316300.5_Missense_Mutation_p.D1392N NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3900 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CTCTGTCCATCACCTCGGTAG 0.463000 106 10 0 0 0.000781405 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65811014 65811014 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:65811014G>A ENST00000312006.4 - 3 541 c.260C>T c.(259-261)gCc>gTc p.A87V GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A87V NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 87 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GTGGCGCTCGGCAAAGCGAAA 0.657000 9 24 0 0 0.000274275 0 0 HIVEP1 3096 broad.mit.edu 37 6 12124382 12124382 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:12124382C>T ENST00000379388.2 + 4 4686 c.4354C>T c.(4354-4356)Caa>Taa p.Q1452* NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1452 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AACATCTTTCCAAAATACTGC 0.453000 18 110 0 0 0.00152264 0 0 BRPF3 27154 broad.mit.edu 37 6 36198362 36198362 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:36198362C>T ENST00000357641.6 + 13 3847 c.3594C>T c.(3592-3594)tcC>tcT p.S1198S BRPF3_ENST00000543502.1_Silent_p.S928S|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000443324.2_Silent_p.S864S|BRPF3_ENST00000534694.1_Silent_p.S864S|BRPF3_ENST00000339717.7_Silent_p.S928S NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1198 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GGCCCCACTCCTTCGTCACTT 0.632000 20 25 0 0 0.000375601 0 0 CSMD3 114788 broad.mit.edu 37 8 114326957 114326957 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:114326957G>A ENST00000297405.5 - 2 488 c.244C>T c.(244-246)Cca>Tca p.P82S CSMD3_ENST00000352409.3_Missense_Mutation_p.P82S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P42S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P82S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 82 CUB 1. integral to membrane|plasma membrane p.P82S(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATCCATATGGAAAACCAGGG 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 82 178 0 0 0.000781405 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37485790 37485790 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37485790G>A ENST00000381792.2 - 7 804 c.664C>T c.(664-666)Cag>Tag p.Q222* TMPRSS6_ENST00000442782.2_Nonsense_Mutation_p.Q231*|TMPRSS6_ENST00000406725.1_Nonsense_Mutation_p.Q222*|TMPRSS6_ENST00000406856.1_Nonsense_Mutation_p.Q222*|TMPRSS6_ENST00000346753.3_Nonsense_Mutation_p.Q231* Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 231 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CGGAGGACCTGGCCCTGGCCC 0.672000 18 16 0 0 0.000958276 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315884 30315884 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:30315884C>T ENST00000375377.1 - 3 3294 c.3193G>A c.(3193-3195)Gag>Aag p.E1065K NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1065 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AAAGACCCCTCTAGCTCACTG 0.592000 43 120 0 0 0.000781405 0 0 SIK3 23387 broad.mit.edu 37 11 116824823 116824823 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:116824823C>T ENST00000375300.1 - 3 396 c.390_splice c.e3-1 p.V131_splice SIK3_ENST00000542607.1_Splice_Site_p.V73_splice|SIK3_ENST00000446921.2_Splice_Site_p.V131_splice|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Splice_Site_p.V73_splice Q9Y2K2 SIK3_HUMAN SIK family kinase 3 73 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GTCTCCATAACCTGGTGCAAA 0.368000 161 23 0 0 0.000781405 0 0 MAGEC3 139081 broad.mit.edu 37 X 140953310 140953310 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:140953310G>A ENST00000298296.1 + 2 177 c.177G>A c.(175-177)ctG>ctA p.L59L NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 59 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TTGGGCATCTGAGGGAGGTGA 0.507000 32 8 0 0 0.000953801 0 0 SIX4 51804 broad.mit.edu 37 14 61180337 61180337 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:61180337G>A ENST00000216513.4 - 3 2193 c.2134C>T c.(2134-2136)Cgt>Tgt p.R712C NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 712 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) AGAACCAAACGATGTTCTTGG 0.443000 15 30 0 0 0.000308642 0 0 SLC12A8 84561 broad.mit.edu 37 3 124906250 124906250 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:124906250C>A ENST00000423114.2 - 4 307 c.308G>T c.(307-309)gGc>gTc p.G103V SLC12A8_ENST00000393469.4_Missense_Mutation_p.G74V|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.G74V A0AV02 S12A8_HUMAN solute carrier family 12, member 8 74 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CAGGAACATGCCCAGGAGCAC 0.632000 17 20 3.83957e-06 1.83283e-05 0.000375601 1 0 CR1L 1379 broad.mit.edu 37 1 207851592 207851592 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:207851592G>A ENST00000508064.2 + 3 387 c.327G>A c.(325-327)gtG>gtA p.V109V CR1L_ENST00000530905.1_3'UTR NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 109 Sushi 2. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TGGCACATGTGATCAAAGACA 0.388000 54 40 0 0 0.000781405 0 0 KIAA0355 9710 broad.mit.edu 37 19 34838929 34838929 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:34838929C>T ENST00000299505.6 + 11 3542 c.2669C>T c.(2668-2670)cCc>cTc p.P890L NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 890 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) TGGCCCTTCCCCGAGTTCTTC 0.657000 10 13 0 0 0.000673444 0 0 ZNF578 147660 broad.mit.edu 37 19 53014273 53014273 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53014273C>T ENST00000421239.2 + 6 883 c.639C>T c.(637-639)ttC>ttT p.F213F NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATAATTTTTTCCATTCATCAT 0.358000 30 110 0 0 0.00106085 0 0 MYO15A 51168 broad.mit.edu 37 17 18023906 18023906 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:18023906G>A ENST00000205890.5 + 2 2130 c.1792G>A c.(1792-1794)Ggc>Agc p.G598S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 598 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGCCCGGGCGGGCGGCCCTGC 0.697000 7 3 0 0 0.000673444 0 0 FAM65C 140876 broad.mit.edu 37 20 49219013 49219013 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:49219013C>T ENST00000327979.2 - 13 1654 c.1243G>A c.(1243-1245)Gag>Aag p.E415K FAM65C_ENST00000045083.2_Missense_Mutation_p.E415K|FAM65C_ENST00000535356.1_Missense_Mutation_p.E419K Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 415 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTGCTGGTCTCCGTGTCTCGG 0.642000 72 53 0 0 0.000781405 0 0 WBSCR17 64409 broad.mit.edu 37 7 70800709 70800709 + Missense_Mutation SNP C C T rs146773920 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:70800709C>T ENST00000333538.5 + 2 1046 c.412C>T c.(412-414)Cgt>Tgt p.R138C WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 138 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCCGGATTATCGTCCCACCAA 0.463000 29 59 0 0 0.001512 0 0 PPARA 5465 broad.mit.edu 37 22 46594462 46594462 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:46594462C>T ENST00000396000.2 + 3 447 c.182C>T c.(181-183)cCt>cTt p.P61L PPARA_ENST00000434345.2_Missense_Mutation_p.P61L|PPARA_ENST00000407236.1_Missense_Mutation_p.P61L|PPARA_ENST00000262735.5_Missense_Mutation_p.P61L|PPARA_ENST00000402126.1_Missense_Mutation_p.P61L Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 61 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) GGAAGCTGTCCTGGCTCAGAT 0.428000 62 61 0 0 0.000781405 0 0 RILP 83547 broad.mit.edu 37 17 1551726 1551726 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:1551726C>T ENST00000301336.6 - 5 1011 c.739G>A c.(739-741)Gag>Aag p.E247K NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 247 RILP-like. endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGCTCAAACTCCTCCCGACTG 0.632000 111 7 0 0 0.000781405 0 0 GCN1L1 10985 broad.mit.edu 37 12 120586048 120586048 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:120586048G>A ENST00000300648.6 - 37 4661 c.4649C>T c.(4648-4650)tCc>tTc p.S1550F NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1550 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTTGACATGGGAGTCGGTCAG 0.582000 34 21 0 0 0.00128727 0 0 TRIM67 440730 broad.mit.edu 37 1 231333210 231333210 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:231333210C>T ENST00000444294.3 + 2 1996 c.1138C>T c.(1138-1140)Cag>Tag p.Q380* TRIM67_ENST00000366652.2_Nonsense_Mutation_p.Q380*|TRIM67_ENST00000449018.3_Nonsense_Mutation_p.Q318*|TRIM67_ENST00000366653.5_Nonsense_Mutation_p.Q380* NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 380 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GCAGCAGATCCAGGTGAGCAC 0.468000 23 48 0 0 0.00047179 0 0 OR4X2 119764 broad.mit.edu 37 11 48266881 48266881 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48266881G>A ENST00000302329.3 + 1 274 c.226G>A c.(226-228)Gat>Aat p.D76N NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 ACTCATCTCAGATCTGCTGGC 0.512000 67 46 0 0 0.000781405 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566726 45566726 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:45566726G>A ENST00000588982.1 - 3 1254 c.753C>T c.(751-753)ttC>ttT p.F251F ZBTB7C_ENST00000535628.2_Silent_p.F251F|ZBTB7C_ENST00000590800.1_Silent_p.F251F|ZBTB7C_ENST00000586438.1_Silent_p.F251F|ZBTB7C_ENST00000332053.2_Silent_p.F251F A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 251 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGTCCGGGGCGAATGGAGACA 0.597000 22 30 0 0 0.00047179 0 0 ZNF233 353355 broad.mit.edu 37 19 44778806 44778806 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44778806G>A ENST00000391958.2 + 5 2120 c.1993G>A c.(1993-1995)Gat>Aat p.D665N ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.D647N|ZNF233_ENST00000592581.1_3'UTR NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 665 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GTTGTCTTCAGATTCATCAGA 0.408000 16 12 0 0 0.000422831 0 0 TATDN2 9797 broad.mit.edu 37 3 10311961 10311961 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:10311961C>T ENST00000287652.4 + 4 2146 c.1095C>T c.(1093-1095)acC>acT p.T365T TATDN2_ENST00000448281.2_Silent_p.T365T|RP11-438J1.1_ENST00000450534.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 365 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CCTTCACCACCGACTATGTCA 0.532000 67 58 0 0 0.000781405 0 0 GZMB 3002 broad.mit.edu 37 14 25102253 25102253 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:25102253C>T ENST00000216341.4 - 2 177 c.71G>A c.(70-72)gGa>gAa p.G24E GZMB_ENST00000382542.1_Missense_Mutation_p.G58E|GZMB_ENST00000382540.1_Missense_Mutation_p.G24E|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.G12E|GZMB_ENST00000526004.1_Missense_Mutation_p.G24E|RP11-104E19.1_ENST00000555300.1_RNA P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 24 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity p.G58E(1)|p.G24E(1) endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) GGCCTCATGTCCCCCGATGAT 0.567000 70 88 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9072421 9072421 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:9072421C>T ENST00000397910.4 - 3 15228 c.15025G>A c.(15025-15027)Gga>Aga p.G5009R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5011 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGAAAATCCATGAGTCATA 0.488000 23 68 0 0 0.000586117 0 0 H6PD 9563 broad.mit.edu 37 1 9324630 9324630 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:9324630T>C ENST00000377403.2 + 5 2380 c.2078T>C c.(2077-2079)aTg>aCg p.M693T H6PD_ENST00000602477.1_Missense_Mutation_p.M704T NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 693 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CTGCTGGGCATGGGTGCCGAC 0.677000 84 8 0 0 0.000781405 0 0 HMCN1 83872 broad.mit.edu 37 1 185934984 185934984 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:185934984G>A ENST00000271588.4 + 14 2378 c.2149G>A c.(2149-2151)Gat>Aat p.D717N HMCN1_ENST00000367492.2_Missense_Mutation_p.D717N|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 717 Ig-like C2-type 4. response to stimulus|visual perception basement membrane calcium ion binding p.D717N(1) 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 TGCCCTTGGGGATATAACCGT 0.398000 28 73 0 0 0.000491102 0 0 AMPD2 271 broad.mit.edu 37 1 110163645 110163645 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:110163645C>T ENST00000256578.3 + 1 370 c.10C>T c.(10-12)Cgt>Tgt p.R4C AMPD2_ENST00000528667.1_Missense_Mutation_p.R4C|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_Intron NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 4 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding p.R4S(1) breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CATGAGAAATCGTGGCCAGGG 0.652000 21 5 0 0 0.000720815 0 0 TMEM18 129787 broad.mit.edu 37 2 669593 669593 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:669593C>T ENST00000281017.3 - 5 503 c.410G>A c.(409-411)aGg>aAg p.R137K TMEM18_ENST00000405941.3_Missense_Mutation_p.R140K|TMEM18_ENST00000355654.2_Missense_Mutation_p.R124K NM_152834.2 NP_690047.2 Q96B42 TMM18_HUMAN transmembrane protein 18 137 cell migration integral to membrane|nuclear membrane endometrium(1)|large_intestine(1)|lung(7)|ovary(1) 10 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) GTCttctttccttctcctttt 0.498000 29 8 0 0 0.000878237 0 0 DMWD 1762 broad.mit.edu 37 19 46289281 46289281 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:46289281G>A ENST00000270223.6 - 3 1518 c.1473C>T c.(1471-1473)tcC>tcT p.S491S DMWD_ENST00000377735.3_Silent_p.S491S NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 491 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) TGTTGGAGCGGGACAGCGAGC 0.746000 5 5 0 0 0.00116845 0 0 RNF123 63891 broad.mit.edu 37 3 49753851 49753851 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:49753851C>T ENST00000327697.6 + 35 3585 c.3441C>T c.(3439-3441)ccC>ccT p.P1147P RNF123_ENST00000433785.1_Silent_p.P259P NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1147 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) ACCACTATCCCATTCTGGTGG 0.642000 127 20 0 0 0.000781405 0 0 CLGN 1047 broad.mit.edu 37 4 141315165 141315165 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:141315165G>A ENST00000325617.5 - 11 1620 c.1180C>T c.(1180-1182)Cca>Tca p.P394S CLGN_ENST00000414773.1_Missense_Mutation_p.P394S|CLGN_ENST00000537281.1_Missense_Mutation_p.P394S NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 394 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) AAATAATCTGGATTAGGAATT 0.328000 13 21 0 0 0.00185496 0 0 CHD6 84181 broad.mit.edu 37 20 40042110 40042110 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:40042110G>A ENST00000373233.3 - 35 7162 c.6985C>T c.(6985-6987)Cct>Tct p.P2329S CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2329 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GGCCCCTCAGGGTGTGTGGTG 0.547000 13 12 0 0 0.00185496 0 0 CTAGE5 4253 broad.mit.edu 37 14 39818153 39818153 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:39818153C>T ENST00000553728.1 + 27 4038 c.3825C>T c.(3823-3825)ttC>ttT p.F1275F CTAGE5_ENST00000341749.3_Silent_p.F728F|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Silent_p.F665F|CTAGE5_ENST00000396165.4_Silent_p.F711F|CTAGE5_ENST00000341502.5_Silent_p.F740F|CTAGE5_ENST00000280083.3_Silent_p.F740F|CTAGE5_ENST00000348007.3_Silent_p.F697F|CTAGE5_ENST00000557038.1_Silent_p.F660F|CTAGE5_ENST00000396158.2_Silent_p.F745F|CTAGE5_ENST00000553352.1_Silent_p.F711F|RP11-407N17.3_ENST00000603904.1_Silent_p.F711F CAGGGGATTTCCCAGGTCCAC 0.423000 25 74 0 0 0.000720815 0 0 OR12D3 81797 broad.mit.edu 37 6 29342848 29342848 + Missense_Mutation SNP A A C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29342848A>C ENST00000396806.3 - 1 220 c.217T>G c.(217-219)Tca>Gca p.S73A OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 AGTGTCACTGAAGAATAAGAA 0.433000 19 20 0 0 0.00152264 0 0 LRRC49 54839 broad.mit.edu 37 15 71256254 71256254 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:71256254G>C ENST00000260382.5 + 9 1164 c.904G>C c.(904-906)Gat>Cat p.D302H LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000544974.2_Missense_Mutation_p.D292H|LRRC49_ENST00000560369.1_Missense_Mutation_p.D307H|LRRC49_ENST00000560691.1_Missense_Mutation_p.D8H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.D258H NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 302 LRRCT. cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GCGCCAGCTAGATATGAAGAG 0.438000 27 48 0 0 0.00127121 0 0 ABCA2 20 broad.mit.edu 37 9 139905466 139905466 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:139905466G>A ENST00000265662.5 - 39 6162 c.6015C>T c.(6013-6015)ctC>ctT p.L2005L ABCA2_ENST00000341511.6_Silent_p.L2005L|ABCA2_ENST00000371605.3_Silent_p.L2004L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 2004 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGATGGTCAGGAGGAAGCCCA 0.677000 13 3 0 0 0.00185496 0 0 OR51S1 119692 broad.mit.edu 37 11 4869782 4869782 + Silent SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:4869782C>A ENST00000322101.2 - 1 732 c.657G>T c.(655-657)ctG>ctT p.L219L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAAAATAAGCAGGGGGTCCA 0.542000 26 27 0.00047179 0.00223905 0.00047179 1 0 HS1BP3 64342 broad.mit.edu 37 2 20840835 20840835 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:20840835C>T ENST00000402541.1 - 3 318 c.304G>A c.(304-306)Gag>Aag p.E102K HS1BP3_ENST00000304031.3_Missense_Mutation_p.E102K|HS1BP3_ENST00000406618.3_Missense_Mutation_p.E102K Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 102 PX. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGTCAGACTCCCCAACAAAC 0.547000 48 101 0 0 0.000781405 0 0 RNF17 56163 broad.mit.edu 37 13 25370433 25370433 + Splice_Site SNP G G A rs9581180 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25370433G>A ENST00000255324.5 + 11 1451 c.1399_splice c.e11+1 p.G467_splice RNF17_ENST00000381921.1_Splice_Site_p.G467_splice|RNF17_ENST00000255325.5_Splice_Site_p.G468_splice NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 467 G -> S (in dbSNP:rs9581180). multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTTGGAACTAGGTAATGAAAT 0.303000 46 26 0 0 0.000781405 0 0 TRPC4 7223 broad.mit.edu 37 13 38237701 38237701 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:38237701G>A ENST00000379705.3 - 6 2397 c.1540C>T c.(1540-1542)Ctg>Ttg p.L514L TRPC4_ENST00000379681.3_Silent_p.L514L|TRPC4_ENST00000379679.1_Silent_p.L341L|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Silent_p.L514L|TRPC4_ENST00000379673.2_Silent_p.L514L|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000358477.2_Silent_p.L514L|TRPC4_ENST00000447043.1_Silent_p.L514L|TRPC4_ENST00000338947.5_Silent_p.L341L Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 514 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AAAATGTCCAGGAGCATTCTT 0.388000 25 11 0 0 0.000586117 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50188918 50188918 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:50188918C>T ENST00000335999.6 - 8 2926 c.2725G>A c.(2725-2727)Gtc>Atc p.V909I NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 905 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CGGTGCTTGACCTCGGCGCCA 0.642000 15 25 0 0 0.000566183 0 0 SPRYD4 283377 broad.mit.edu 37 12 56863217 56863217 + Silent SNP G G A rs71459371 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:56863217G>A ENST00000338146.5 + 2 555 c.480G>A c.(478-480)caG>caA p.Q160Q NM_207344.3 NP_997227.1 Q8WW59 SPRY4_HUMAN SPRY domain containing 4 160 B30.2/SPRY. nucleus kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1) 7 ATGAGGCCCAGAAGCTGAGCC 0.592000 28 25 0 0 0.001512 0 0 MFSD4 148808 broad.mit.edu 37 1 205549071 205549071 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:205549071C>T ENST00000367147.4 + 2 516 c.423C>T c.(421-423)ttC>ttT p.F141F MFSD4_ENST00000539267.1_Silent_p.F141F|MFSD4_ENST00000536357.1_Silent_p.F141F NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 141 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CGGCCGTCTTCCTCCAGGTAA 0.672000 15 4 0 0 0.000422831 0 0 ACE 1636 broad.mit.edu 37 17 61566478 61566478 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:61566478C>T ENST00000577647.1 + 6 949 c.904C>T c.(904-906)Cct>Tct p.P302S ACE_ENST00000490216.2_Missense_Mutation_p.P302S|ACE_ENST00000428043.1_Missense_Mutation_p.P876S|ACE_ENST00000413513.3_Missense_Mutation_p.P302S|ACE_ENST00000421982.2_Intron|ACE_ENST00000290866.4_Missense_Mutation_p.P876S|ACE_ENST00000290863.6_Missense_Mutation_p.P302S P12821 ACE_HUMAN angiotensin I converting enzyme 876 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGGGCCCATTCCTGCTCACCT 0.632000 26 4 0 0 0.00047179 0 0 SYT5 6861 broad.mit.edu 37 19 55689657 55689657 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55689657C>T ENST00000354308.3 - 3 528 c.159G>A c.(157-159)aaG>aaA p.K53K SYT5_ENST00000537500.1_Silent_p.K53K|SYT5_ENST00000590851.1_Intron NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 53 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TCCGACAGCTCTTCCGGTAGA 0.617000 5 53 0 0 0.00198382 0 0 CORO2A 7464 broad.mit.edu 37 9 100897226 100897226 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:100897226C>T ENST00000343933.5 - 4 587 c.330G>A c.(328-330)tgG>tgA p.W110* CORO2A_ENST00000375077.4_Nonsense_Mutation_p.W110* NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 110 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) TGGGGATGCTCCAGATCTTAA 0.632000 42 5 0 0 0.000781405 0 0 MXRA5 25878 broad.mit.edu 37 X 3241568 3241568 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:3241568G>A ENST00000217939.6 - 5 2312 c.2158C>T c.(2158-2160)Caa>Taa p.Q720* NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 720 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AACACCTCTTGGTCCTTTGGA 0.478000 36 1 0 0 0.00128727 0 0 NGLY1 55768 broad.mit.edu 37 3 25805596 25805596 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:25805596G>A ENST00000428257.1 - 3 560 c.453C>T c.(451-453)aaC>aaT p.N151N NGLY1_ENST00000422724.2_Silent_p.N74N|NGLY1_ENST00000417874.2_Silent_p.N109N|NGLY1_ENST00000396649.3_Silent_p.N151N|NGLY1_ENST00000280700.5_Silent_p.N151N NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 151 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 GCCCTTGACGGTTCCTTGTGT 0.438000 16 60 0 0 0.00074312 0 0 TMC3 342125 broad.mit.edu 37 15 81637258 81637258 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:81637258G>A ENST00000558726.1 - 13 1505 c.1370C>T c.(1369-1371)tCt>tTt p.S457F RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.S456F Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 456 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TCCAGGCCGAGATGTGGACCA 0.483000 13 14 0 0 0.000308642 0 0 TMEM106A 113277 broad.mit.edu 37 17 41365860 41365860 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:41365860G>A ENST00000331615.3 + 4 462 c.225G>A c.(223-225)caG>caA p.Q75Q TMEM106A_ENST00000536052.1_Silent_p.Q75Q|TMEM106A_ENST00000541594.1_Silent_p.Q27Q|TMEM106A_ENST00000588659.1_Silent_p.Q75Q|TMEM106A_ENST00000592564.1_3'UTR NM_145041.1 NP_659478.1 Q96A25 T106A_HUMAN transmembrane protein 106A 75 integral to membrane NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) TGGAGAAGCAGTTGGTGGCTC 0.572000 11 31 0 0 0.000219431 0 0 AK5 26289 broad.mit.edu 37 1 77763292 77763292 + Missense_Mutation SNP G G A rs141828356 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:77763292G>A ENST00000344720.5 + 4 1412 c.386G>A c.(385-387)cGa>cAa p.R129Q AK5_ENST00000354567.2_Missense_Mutation_p.R155Q|AK5_ENST00000317704.4_3'UTR NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 155 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 ATTGCAGAACGATATGGATTC 0.383000 11 66 0 0 0.00136819 0 0 CACNA1E 777 broad.mit.edu 37 1 181741296 181741296 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:181741296G>A ENST00000526775.1 + 36 5176 c.5011G>A c.(5011-5013)Gag>Aag p.E1671K CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1690K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1641K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1622K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1671K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1297K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1690K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1690 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.E1690K(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGGGCAGAACGAGAACGAACG 0.557000 36 28 0 0 0.000953801 0 0 RAG2 5897 broad.mit.edu 37 11 36615435 36615435 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:36615435C>T ENST00000311485.3 - 2 445 c.284G>A c.(283-285)gGa>gAa p.G95E NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 95 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TGTTTTCCCTCCATGGATGAT 0.423000 Familial Hemophagocytic Lymphohistiocytosis 27 98 0 0 0.001512 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71549895 71549895 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:71549895G>A ENST00000265382.3 + 13 1596 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E431K NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 431 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AATTAGCCAGGAATGGAAGGA 0.428000 24 12 0 0 0.000586117 0 0 DSPP 1834 broad.mit.edu 37 4 88533886 88533886 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:88533886G>A ENST00000399271.1 + 4 668 c.548G>A c.(547-549)gGa>gAa p.G183E RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.G183E NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 183 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) CAAGAAGATGGACCTCAAGTA 0.408000 21 22 0 0 0.00152264 0 0 MAP4K5 11183 broad.mit.edu 37 14 50912825 50912825 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:50912825C>G ENST00000013125.4 - 17 1475 c.1157G>C c.(1156-1158)cGt>cCt p.R386P NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 386 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R386H(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) TGGTATTGCACGTTTTGAGGT 0.284000 13 22 0 0 0.000566183 0 0 SBSN 374897 broad.mit.edu 37 19 36018747 36018747 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:36018747C>T ENST00000452271.2 - 1 465 c.437G>A c.(436-438)gGa>gAa p.G146E SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 145 Ala/Gly/His-rich. extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGCCTCACTTCCCGCCTGGTT 0.607000 29 30 0 0 0.00127121 0 0 C8B 732 broad.mit.edu 37 1 57425832 57425832 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:57425832G>A ENST00000371237.4 - 2 176 c.110C>T c.(109-111)tCc>tTc p.S37F C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000543257.1_5'UTR NM_000066.2 NP_000057.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 37 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TGACCCAAAGGAATGTGGCCT 0.418000 17 78 0 0 0.00074312 0 0 KIAA1324 57535 broad.mit.edu 37 1 109735476 109735476 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:109735476C>T ENST00000369939.3 + 14 2110 c.1927C>T c.(1927-1929)Cca>Tca p.P643S KIAA1324_ENST00000529753.1_Missense_Mutation_p.P556S|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 643 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GCCCTGTGGTCCAGGGACCAA 0.537000 150 93 0 0 0.000781405 0 0 TPO 7173 broad.mit.edu 37 2 1488382 1488382 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1488382G>A ENST00000345913.4 + 9 1444 c.1353G>A c.(1351-1353)agG>agA p.R451R TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Silent_p.R451R|TPO_ENST00000382198.1_Silent_p.R278R|TPO_ENST00000329066.4_Silent_p.R451R|TPO_ENST00000349624.3_Silent_p.R278R|TPO_ENST00000346956.3_Silent_p.R451R|TPO_ENST00000337415.3_Silent_p.R451R NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 451 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCACCCTGAGGGATTACATCC 0.577000 9 27 0 0 0.000673444 0 0 FLG 2312 broad.mit.edu 37 1 152281741 152281741 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152281741G>A ENST00000368799.1 - 3 5656 c.5621C>T c.(5620-5622)tCa>tTa p.S1874L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1874 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.S1874L(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGTCTCCTGATTGTTTCTC 0.572000 Ichthyosis 200 118 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196774785 196774785 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:196774785C>T ENST00000312428.6 - 25 4170 c.4070G>A c.(4069-4071)gGg>gAg p.G1357E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1357 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATAATCCAACCCATCAGAGCA 0.408000 15 37 0 0 0.000219431 0 0 CUL9 23113 broad.mit.edu 37 6 43184064 43184064 + Silent SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43184064T>A ENST00000252050.4 + 31 6189 c.6105T>A c.(6103-6105)gcT>gcA p.A2035A RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.A1925A|CUL9_ENST00000372647.2_Silent_p.A2007A NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 2035 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 ACTGGGGCGCTGAACAGCTGC 0.602000 12 22 0 0 0.00136819 0 0 CXorf27 25763 broad.mit.edu 37 X 37850232 37850232 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:37850232C>T ENST00000341016.3 + 1 163 c.140C>T c.(139-141)tCc>tTc p.S47F TM4SF2_ENST00000465127.1_Intron NM_012274.1 NP_036406.1 O75409 HYPM_HUMAN chromosome X open reading frame 27 47 DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2) 8 AGCCAGAGTTCCTCCACAATA 0.517000 27 4 0 0 0.00106085 0 0 SPTB 6710 broad.mit.edu 37 14 65233428 65233428 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:65233428G>A ENST00000542895.1 - 32 6457 c.6361C>T c.(6361-6363)Cgt>Tgt p.R2121C SPTB_ENST00000389720.3_Missense_Mutation_p.S2104L|SPTB_ENST00000389721.5_Missense_Mutation_p.R2121C|SPTB_ENST00000389722.3_Intron|SPTB_ENST00000556626.1_Intron P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2121 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTAGACAAACGAGACCAGAGA 0.637000 36 112 0 0 0.000953801 0 0 TNXB 7148 broad.mit.edu 37 6 32032812 32032812 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:32032812G>A ENST00000375244.3 - 19 6828 c.6627C>T c.(6625-6627)tcC>tcT p.S2209S TNXB_ENST00000375247.2_Silent_p.S2209S P22105 TENX_HUMAN tenascin XB 2281 Fibronectin type-III 14. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGAGGCTGAGGGAGTCGGAGG 0.597000 65 241 0 0 0.000781405 0 0 TRPC7 57113 broad.mit.edu 37 5 135583275 135583275 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:135583275C>T ENST00000513104.1 - 7 2010 c.1728G>A c.(1726-1728)gtG>gtA p.V576V TRPC7_ENST00000426057.2_Silent_p.V460V|TRPC7_ENST00000355180.3_Silent_p.V515V NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 576 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGATATCTTTCACAGTTCTCC 0.473000 33 75 0 0 0.00170553 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41455036 41455036 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:41455036C>T ENST00000599198.1 + 0 1427 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CAGAACTTCTCCGTGGCCAGC 0.572000 6 3 0 0 0.00116845 0 0 HDAC9 9734 broad.mit.edu 37 7 19015469 19015469 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:19015469G>A ENST00000406451.3 + 25 3204 c.3054G>A c.(3052-3054)agG>agA p.R1018R HDAC9_ENST00000401921.1_Silent_p.R977R|HDAC9_ENST00000441542.2_Silent_p.R1021R NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 0 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CTGTGCCAAGGGGCTGTGCTC 0.478000 17 34 0 0 0.000958276 0 0 OPHN1 4983 broad.mit.edu 37 X 67333082 67333082 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:67333082C>T ENST00000355520.5 - 17 2003 c.e17-1 OPHN1_ENST00000540071.1_Splice_Site NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 AGAAAGATTCCTGAAATGAAT 0.418000 8 1 0 0 0.000274275 0 0 EMC1 23065 broad.mit.edu 37 1 19566418 19566418 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:19566418G>A ENST00000477853.1 - 8 890 c.848C>T c.(847-849)cCa>cTa p.P283L EMC1_ENST00000375208.3_Missense_Mutation_p.P261L|EMC1_ENST00000375199.3_Missense_Mutation_p.P283L|RP1-43E13.2_ENST00000437898.1_RNA NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 AGCGTCCACTGGGTTGGGCTG 0.532000 16 46 0 0 0.000308642 0 0 ZNF813 126017 broad.mit.edu 37 19 53994699 53994699 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53994699C>T ENST00000396403.4 + 4 1341 c.1213C>T c.(1213-1215)Cat>Tat p.H405Y ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TCGTAGACTTCATACCGGAGA 0.408000 14 70 0 0 0.000308642 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42162941 42162941 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:42162941C>T ENST00000444063.1 + 12 1479 c.1347C>T c.(1345-1347)ttC>ttT p.F449F L3MBTL1_ENST00000427442.2_Silent_p.F517F|L3MBTL1_ENST00000373135.3_Silent_p.F449F|L3MBTL1_ENST00000418998.1_Silent_p.F517F|L3MBTL1_ENST00000373134.1_Silent_p.F449F Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 449 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 CTCACAGCTTCCTGGTCAATA 0.627000 26 69 0 0 0.000878237 0 0 APOB 338 broad.mit.edu 37 2 21231540 21231540 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:21231540G>A ENST00000233242.1 - 26 8327 c.8200C>T c.(8200-8202)Cct>Tct p.P2734S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2734 Missing (in Ref. 15; AAA51758). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.P2734S(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGAAGGTCAGGAACTTGAAAA 0.418000 326 217 0 0 0.000781405 0 0 L1CAM 3897 broad.mit.edu 37 X 153135651 153135651 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:153135651G>A ENST00000370060.1 - 9 1040 c.851C>T c.(850-852)cCa>cTa p.P284L L1CAM_ENST00000361981.3_Missense_Mutation_p.P279L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P286L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P286L|L1CAM_ENST00000361699.4_Missense_Mutation_p.P284L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P279L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P284L NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 284 Ig-like C2-type 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACGGTCGGCTGGCATGGGGCC 0.617000 76 9 0 0 0.000781405 0 0 CUX2 23316 broad.mit.edu 37 12 111652089 111652089 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:111652089G>A ENST00000261726.6 + 2 303 c.149G>A c.(148-150)cGg>cAg p.R50Q NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 50 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GAACTCCGCCGGGAATTTAAG 0.378000 55 23 0 0 0.000781405 0 0 NLRP9 338321 broad.mit.edu 37 19 56243522 56243522 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56243522T>C ENST00000332836.2 - 2 1702 c.1675A>G c.(1675-1677)Acc>Gcc p.T559A NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 559 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ATCACTTTGGTTACAAATTCT 0.333000 15 81 0 0 0.000308642 0 0 IRGC 56269 broad.mit.edu 37 19 44224036 44224036 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44224036G>A ENST00000244314.5 + 2 1525 c.1326G>A c.(1324-1326)agG>agA p.R442R NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 442 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CAACCTGCAGGAAGCTCGGCC 0.597000 11 20 0 0 0.000978159 0 0 FRZB 2487 broad.mit.edu 37 2 183723556 183723556 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:183723556G>A ENST00000295113.4 - 2 1093 c.484C>T c.(484-486)Cct>Tct p.P162S NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 162 brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GAATCCATAGGAAAATCTGAA 0.343000 70 89 0 0 0.000781405 0 0 TG 7038 broad.mit.edu 37 8 134042158 134042158 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:134042158C>T ENST00000220616.4 + 41 7169 c.7129C>T c.(7129-7131)Cct>Tct p.P2377S TG_ENST00000377869.1_Missense_Mutation_p.P2320S|TG_ENST00000542445.1_Missense_Mutation_p.P747S|TG_ENST00000519543.1_Missense_Mutation_p.P510S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2377 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGGCGGGGACCCTCGGCGCGT 0.662000 17 44 0 0 0.00074312 0 0 FREM2 341640 broad.mit.edu 37 13 39452383 39452383 + Silent SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:39452383C>A ENST00000280481.7 + 22 9000 c.8784C>A c.(8782-8784)ccC>ccA p.P2928P NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2928 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCTATGTTCCCAAGTATAGTC 0.428000 6 59 0.00198382 0.00936454 0.00198382 1 0 ARRB1 408 broad.mit.edu 37 11 74993017 74993017 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:74993017C>T ENST00000420843.2 - 6 500 c.403G>A c.(403-405)Gac>Aac p.D135N ARRB1_ENST00000360025.3_Missense_Mutation_p.D135N|ARRB1_ENST00000393505.4_Missense_Mutation_p.D135N NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 135 Interaction with SRC (By similarity). G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 TTCCCCGTGTCTTCGGGCCCC 0.592000 13 28 0 0 0.000422831 0 0 PBRM1 55193 broad.mit.edu 37 3 52582135 52582135 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:52582135A>T ENST00000356770.4 - 28 4755 c.4753T>A c.(4753-4755)Ttg>Atg p.L1585M PBRM1_ENST00000410007.1_Missense_Mutation_p.L1592M|PBRM1_ENST00000409767.1_Missense_Mutation_p.L1580M|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1617M|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1565M|PBRM1_ENST00000409114.3_Missense_Mutation_p.L1635M|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1565M|PBRM1_ENST00000296302.7_Missense_Mutation_p.L1672M|SMIM4_ENST00000476842.1_Intron Q86U86 PB1_HUMAN polybromo 1 1672 Pro-rich. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CGGAGCATCAAATCTCGAAGG 0.478000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 79 16 0 0 0.000781405 0 0 MIR409 574413 broad.mit.edu 37 14 101531652 101531652 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:101531652G>A ENST00000362237.1 + 0 16 NR_029975.1 CTCGGGGAGAGGTTACCCGAG 0.582000 14 32 0 0 0.00185496 0 0 SOAT1 6646 broad.mit.edu 37 1 179310213 179310213 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:179310213C>T ENST00000367619.3 + 7 691 c.548C>T c.(547-549)aCc>aTc p.T183I SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Missense_Mutation_p.T125I|SOAT1_ENST00000539888.1_Missense_Mutation_p.T118I NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 183 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) AAATTTCCTACCGTTGTTTGG 0.423000 13 50 0 0 0.00136819 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685743 108685743 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:108685743G>A ENST00000312143.7 - 3 1360 c.997C>T c.(997-999)Cgc>Tgc p.R333C CMKLR1_ENST00000412676.1_Missense_Mutation_p.R333C|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R331C|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R331C|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R333C NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 333 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.R331G(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 TTGACCAGGCGAGAGAAGAGG 0.488000 29 31 0 0 0.00127121 0 0 PPP4R4 57718 broad.mit.edu 37 14 94712823 94712823 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:94712823G>A ENST00000304338.3 + 14 1712 c.1558G>A c.(1558-1560)Gat>Aat p.D520N NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 520 cytoplasm|protein serine/threonine phosphatase complex protein binding p.D520N(1) NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CATATCAAGCGATCAGATTTA 0.403000 74 47 0 0 0.000781405 0 0 ADARB2 105 broad.mit.edu 37 10 1406045 1406045 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:1406045G>A ENST00000381312.1 - 3 580 c.255C>T c.(253-255)tcC>tcT p.S85S NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 85 mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) cccggtccccggagggcggtg 0.711000 5 8 0 0 0.000602214 0 0 FAM47B 170062 broad.mit.edu 37 X 34961603 34961603 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:34961603C>T ENST00000329357.5 + 1 691 c.655C>T c.(655-657)Cgg>Tgg p.R219W NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 219 Pro-rich. p.R219W(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TCCCAAGACTCGGGTGTCCAG 0.667000 21 2 0 0 0.00152264 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976108 120976108 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:120976108C>T ENST00000273666.6 + 17 2031 c.1760C>T c.(1759-1761)tCa>tTa p.S587L STXBP5L_ENST00000497029.1_Missense_Mutation_p.S587L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S587L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S587L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S587L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 587 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CTTCCTTCTTCAAGGAGTCTT 0.418000 54 63 0 0 0.000781405 0 0 OGDHL 55753 broad.mit.edu 37 10 50952113 50952113 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:50952113G>A ENST00000374103.4 - 14 1873 c.1788C>T c.(1786-1788)atC>atT p.I596I OGDHL_ENST00000432695.1_Silent_p.I387I|OGDHL_ENST00000419399.1_Silent_p.I539I NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 596 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TGTCCTCAGGGATCCCCGTGG 0.597000 25 15 0 0 0.000586117 0 0 KCTD16 57528 broad.mit.edu 37 5 143853416 143853416 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:143853416G>A ENST00000507359.2 + 3 2117 c.1026G>A c.(1024-1026)ctG>ctA p.L342L KCTD16_ENST00000512467.1_Silent_p.L342L NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 342 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TCCAGACTCTGGACCGTCCCA 0.587000 23 48 0 0 0.000720815 0 0 IBA57 200205 broad.mit.edu 37 1 228362887 228362887 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228362887C>T ENST00000366711.3 + 3 746 c.744C>T c.(742-744)gcC>gcT p.A248A IBA57_ENST00000546123.1_Silent_p.A55A|IBA57_ENST00000484749.1_3'UTR NM_001010867.2 NP_001010867.1 Q5T440 CAF17_HUMAN IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) 248 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 CCAACCTGGCCTTCATGAACG 0.642000 24 78 0 0 0.000878237 0 0 ALPK3 57538 broad.mit.edu 37 15 85402590 85402590 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:85402590G>A ENST00000258888.5 + 7 4707 c.4540G>A c.(4540-4542)Gat>Aat p.D1514N NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1514 Ig-like 2. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATGGGCCAAGGATCAGCGCCC 0.562000 21 18 0 0 0.000586117 0 0 C8orf34 116328 broad.mit.edu 37 8 69552622 69552622 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:69552622G>A ENST00000337103.4 + 7 2376 c.784G>A c.(784-786)Gat>Aat p.D262N C8orf34_ENST00000539993.1_Missense_Mutation_p.D287N|C8orf34_ENST00000325233.3_Missense_Mutation_p.D31N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D373N Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 287 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GGATCTTAATGATTTAAGAAT 0.398000 22 25 0 0 0.00047179 0 0 ZNF502 91392 broad.mit.edu 37 3 44763609 44763609 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:44763609C>T ENST00000296091.4 + 4 1556 c.1300C>T c.(1300-1302)Ccc>Tcc p.P434S ZNF502_ENST00000449836.1_Missense_Mutation_p.P434S|ZNF502_ENST00000436624.2_Missense_Mutation_p.P434S NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TGGAGAAAAACCCTATAAATG 0.423000 12 30 0 0 0.000978159 0 0 MAP3K6 9064 broad.mit.edu 37 1 27688716 27688716 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:27688716G>A ENST00000493901.1 - 10 1520 c.1281C>T c.(1279-1281)gcC>gcT p.A427A MAP3K6_ENST00000357582.2_Silent_p.A427A|MAP3K6_ENST00000374040.3_Silent_p.A419A NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 427 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGCCTTTGCGGGCCAGCAGGC 0.627000 9 34 0 0 0.00136819 0 0 CCDC181 57821 broad.mit.edu 37 1 169391163 169391163 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:169391163G>A ENST00000545005.1 - 4 1013 c.506C>T c.(505-507)aCt>aTt p.T169I CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.T169I|CCDC181_ENST00000367806.3_Missense_Mutation_p.T169I coiled-coil domain containing 181 AAAAGTAGTAGTGTCTTCTAG 0.353000 26 49 0 0 0.00047179 0 0 RNF113B 140432 broad.mit.edu 37 13 98829361 98829361 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:98829361C>T ENST00000267291.6 - 1 158 c.130G>A c.(130-132)Gga>Aga p.G44R FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 44 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CTGCTCTCTCCGTGCTCGGGG 0.692000 10 21 0 0 0.000442599 0 0 CUBN 8029 broad.mit.edu 37 10 16967596 16967596 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:16967596C>T ENST00000377833.4 - 42 6514 c.6449G>A c.(6448-6450)gGg>gAg p.G2150E NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2150 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.G2150V(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAAGTAATCCCCCTGGTTGCA 0.423000 8 28 0 0 0.000274275 0 0 ANKRD45 339416 broad.mit.edu 37 1 173628282 173628282 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:173628282C>T ENST00000333279.2 - 2 336 c.276G>A c.(274-276)gtG>gtA p.V92V NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 108 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 AAGCTCTAATCACGTCACTTT 0.398000 65 52 0 0 0.000781405 0 0 IGFL4 444882 broad.mit.edu 37 19 46543462 46543462 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:46543462T>C ENST00000377697.1 - 3 336 c.283A>G c.(283-285)Atg>Gtg p.M95V IGFL4_ENST00000601672.1_Start_Codon_SNP_p.M1V NM_001002923.1 NP_001002923.1 Q6B9Z1 IGFL4_HUMAN IGF-like family member 4 95 extracellular region cervix(1)|kidney(1)|lung(1) 3 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) TCTGGCTTCATGCCTGGGACC 0.592000 21 35 0 0 0.000375601 0 0 TSPAN17 26262 broad.mit.edu 37 5 176084626 176084626 + Missense_Mutation SNP C C T rs147674980 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176084626C>T ENST00000310032.8 + 9 1155 c.926C>T c.(925-927)cCg>cTg p.P309L TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Missense_Mutation_p.P286L|TSPAN17_ENST00000508164.1_Missense_Mutation_p.P306L|TSPAN17_ENST00000515708.1_3'UTR NM_012171.2|NM_130465.4 NP_036303.1|NP_569732.2 Q96FV3 TSN17_HUMAN tetraspanin 17 161 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) gcccctggcccggccccaccc 0.537000 6 21 0 0 0.000157383 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555149 44555149 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:44555149C>T ENST00000330682.2 - 1 1300 c.1065G>A c.(1063-1065)gtG>gtA p.V355V KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 355 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GGACCCCTTCCACGTCGCCGA 0.647000 47 549 0 0 0.000781405 0 0 ZNF597 146434 broad.mit.edu 37 16 3486991 3486991 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3486991C>T ENST00000301744.4 - 4 943 c.708G>A c.(706-708)aaG>aaA p.K236K LA16c-306E5.2_ENST00000575785.1_RNA NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 AGGGCTTCTCCTTTACGTGGC 0.473000 18 46 0 0 0.00074312 0 0 CHD3 1107 broad.mit.edu 37 17 7801392 7801392 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7801392G>A ENST00000380358.4 + 12 2201 c.2200G>A c.(2200-2202)Gaa>Aaa p.E734K CHD3_ENST00000358181.4_Missense_Mutation_p.E675K|CHD3_ENST00000330494.7_Missense_Mutation_p.E675K NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 675 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TGAATACGAAGAACATAAGCA 0.438000 143 23 0 0 0.000781405 0 0 LRRC18 474354 broad.mit.edu 37 10 50121768 50121768 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:50121768C>T ENST00000374160.3 - 1 509 c.433G>A c.(433-435)Gag>Aag p.E145K RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.E145K|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 145 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TCGTGGAGCTCCTTCAGGGCC 0.582000 7 22 0 0 0.00198382 0 0 NLRP4 147945 broad.mit.edu 37 19 56390197 56390197 + Missense_Mutation SNP G G A rs141409047 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56390197G>A ENST00000301295.6 + 9 3156 c.2734G>A c.(2734-2736)Gat>Aat p.D912N NLRP4_ENST00000587891.1_Missense_Mutation_p.D837N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D856N NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 912 ATP binding p.D912N(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTGCTGTAAGGATCTCGCGTC 0.542000 7 48 0 0 0.000157383 0 0 LAMB1 3912 broad.mit.edu 37 7 107626734 107626734 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:107626734G>A ENST00000393561.1 - 4 754 c.570C>T c.(568-570)ttC>ttT p.F190F LAMB1_ENST00000393560.1_Silent_p.F166F|LAMB1_ENST00000222399.6_Silent_p.F166F P07942 LAMB1_HUMAN laminin, beta 1 166 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTCATAGGCGAAGTATCTAT 0.448000 43 96 0 0 0.000781405 0 0 ATP2A1 487 broad.mit.edu 37 16 28914725 28914725 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:28914725G>A ENST00000395503.4 + 21 3128 c.2944G>A c.(2944-2946)Gaa>Aaa p.E982K ATP2A1_ENST00000536376.1_Missense_Mutation_p.E857K|ATP2A1_ENST00000357084.3_Missense_Mutation_p.E982K NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 982 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 TGGGCTCGACGAAATCCTCAA 0.612000 21 70 0 0 0.00188189 0 0 ARHGEF28 64283 broad.mit.edu 37 5 72980679 72980679 + Translation_Start_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:72980679G>A ENST00000545377.1 + 2 179 c.3G>A c.(1-3)atG>atA p.M1I ARHGEF28_ENST00000513042.2_Start_Codon_SNP_p.M1I|ARHGEF28_ENST00000296794.6_Start_Codon_SNP_p.M1I|ARHGEF28_ENST00000287898.5_Start_Codon_SNP_p.M1I|ARHGEF28_ENST00000426542.2_Start_Codon_SNP_p.M1I|ARHGEF28_ENST00000437974.1_Start_Codon_SNP_p.M1I NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CGAAAGCCATGGAGTTGAGCT 0.483000 23 42 0 0 0.000375601 0 0 OSBPL2 9885 broad.mit.edu 37 20 60838688 60838688 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:60838688C>T ENST00000313733.3 + 4 401 c.199C>T c.(199-201)Ccc>Tcc p.P67S OSBPL2_ENST00000439951.2_5'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P55S NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 67 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GCTGCCGGCTCCCATGTTCAG 0.577000 34 83 0 0 0.000953801 0 0 SHROOM2 357 broad.mit.edu 37 X 9907344 9907344 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:9907344G>A ENST00000380913.3 + 8 4339 c.4249G>A c.(4249-4251)Gag>Aag p.E1417K SHROOM2_ENST00000418909.2_Missense_Mutation_p.E252K NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1417 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GGACCTGCAGGAGCAGCAGGA 0.602000 8 1 0 0 0.000274275 0 0 MROH2B 133558 broad.mit.edu 37 5 41057398 41057398 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:41057398C>T ENST00000399564.4 - 8 1271 c.821G>A c.(820-822)aGa>aAa p.R274K MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AAAGATGGATCTTCTCAAGCT 0.413000 6 2 0 0 0.00198382 0 0 THSD7B 80731 broad.mit.edu 37 2 137917850 137917850 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:137917850C>T ENST00000409968.1 + 6 1615 c.1437C>T c.(1435-1437)atC>atT p.I479I THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.I479I|THSD7B_ENST00000413152.2_Silent_p.I448I thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCTGCAATATCCCTTGCTCTA 0.517000 27 44 0 0 0.00127121 0 0 SCN10A 6336 broad.mit.edu 37 3 38755466 38755466 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38755466G>A ENST00000449082.2 - 21 3786 c.3787C>T c.(3787-3789)Cga>Tga p.R1263* NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1263 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCTTCAAATCGAGAAAGAGCC 0.532000 37 38 0 0 0.00148497 0 0 MCM3AP 8888 broad.mit.edu 37 21 47679005 47679005 + Splice_Site SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:47679005C>A ENST00000397708.1 - 17 3836 c.3581_splice c.e17-1 p.K1194_splice MCM3AP_ENST00000291688.1_Splice_Site_p.K1194_splice|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1194 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CTACTGCATTCCTAGAAACAG 0.547000 56 60 9.39563e-20 4.53411e-19 0.000781405 1 0 PABPN1 8106 broad.mit.edu 37 14 23792248 23792248 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:23792248T>C ENST00000397276.2 + 3 520 c.507T>C c.(505-507)gcT>gcC p.A169A BCL2L2-PABPN1_ENST00000557008.1_Silent_p.A196A|PABPN1_ENST00000557702.1_Silent_p.A41A|PABPN1_ENST00000556821.1_Silent_p.A41A|PABPN1_ENST00000216727.4_Silent_p.A169A|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.A196A poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) AGATGGAGGCTGATGCCCGTT 0.433000 37 96 0 0 0.000589545 0 0 TBX2 6909 broad.mit.edu 37 17 59481989 59481989 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:59481989C>T ENST00000240328.3 + 5 1191 c.910C>T c.(910-912)Cta>Tta p.L304L RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 304 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 GCTGCCGTCTCTACGCTTGTA 0.697000 5 8 0 0 0.00198382 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382330 101382330 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:101382330G>A ENST00000372780.1 + 3 747 c.528G>A c.(526-528)agG>agA p.R176R TCEAL2_ENST00000329035.2_Silent_p.R176R NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 ACATGGCTAGGGTGGAGGATA 0.428000 59 7 0 0 0.000781405 0 0 C19orf18 147685 broad.mit.edu 37 19 58477955 58477955 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58477955G>A ENST00000314391.3 - 4 415 c.314C>T c.(313-315)tCg>tTg p.S105L NM_152474.4 NP_689687.1 Q8NEA5 CS018_HUMAN chromosome 19 open reading frame 18 105 integral to membrane p.S105L(1) large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) GGCTACGCTCGAAATTAAAAT 0.348000 67 23 0 0 0.000781405 0 0 SLC22A20 440044 broad.mit.edu 37 11 64985083 64985083 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:64985083C>T ENST00000525437.1 + 0 596 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 TATTTCAGCTCCTTCAGTGCC 0.617000 13 19 0 0 0.000219431 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502793 140502793 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140502793G>A ENST00000194152.1 + 1 1213 c.1213G>A c.(1213-1215)Gag>Aag p.E405K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 405 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGGTAACAGAGAGACCACT 0.453000 7 33 0 0 0.00198382 0 0 IL4R 3566 broad.mit.edu 37 16 27374181 27374181 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:27374181C>T ENST00000395762.2 + 11 1767 c.1508C>T c.(1507-1509)tCc>tTc p.S503F IL4R_ENST00000543915.2_Missense_Mutation_p.S503F|IL4R_ENST00000170630.2_Missense_Mutation_p.S503F|IL4R_ENST00000380922.3_Missense_Mutation_p.S488F NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 503 Required for IRS1 activation and IL4- induced cell growth. S -> P (lowered total IgE concentration; dbSNP:rs1805015). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TTCAGCAACTCCCTGAGCCAG 0.627000 50 29 0 0 0.000781405 0 0 TINAGL1 64129 broad.mit.edu 37 1 32052509 32052509 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:32052509G>A ENST00000271064.7 + 12 1409 c.1333G>A c.(1333-1335)Gag>Aag p.E445K TINAGL1_ENST00000457433.2_Missense_Mutation_p.E414K|TINAGL1_ENST00000481165.1_3'UTR NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 445 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) CGGCGTCAATGAGTGCGACAT 0.682000 9 4 0 0 0.000673444 0 0 DOCK11 139818 broad.mit.edu 37 X 117731477 117731477 + Missense_Mutation SNP C C T rs138683152 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:117731477C>T ENST00000276204.6 + 21 2421 c.2347C>T c.(2347-2349)Cca>Tca p.P783S DOCK11_ENST00000276202.7_Missense_Mutation_p.P783S Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 783 DHR-1. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CAATCTTCCCCCAGGCTACTT 0.403000 31 4 0 0 0.0024448 0 0 CYP19A1 1588 broad.mit.edu 37 15 51514528 51514528 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:51514528G>A ENST00000405913.3 - 4 744 c.646C>T c.(646-648)Ctc>Ttc p.L216F CYP19A1_ENST00000557858.1_Missense_Mutation_p.L216F|CYP19A1_ENST00000396404.4_Intron|CYP19A1_ENST00000559878.1_Intron|CYP19A1_ENST00000260433.2_Intron|CYP19A1_ENST00000396402.1_Intron|RP11-108K3.1_ENST00000559909.1_lincRNA P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 0 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) CAAGATGTGAGAGTGAAAATT 0.458000 26 24 0 0 0.00106085 0 0 DLL4 54567 broad.mit.edu 37 15 41224579 41224579 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:41224579G>A ENST00000249749.5 + 6 1060 c.784G>A c.(784-786)Ggc>Agc p.G262S NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 262 EGF-like 2. blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CTGTCGCCACGGCACCTGCAG 0.617000 66 70 0 0 0.000781405 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588986 140588986 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140588986C>T ENST00000239450.2 + 1 696 c.507C>T c.(505-507)agC>agT p.S169S PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 169 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTAAAAAGCTACACAATAA 0.393000 15 41 0 0 0.000308642 0 0 PAPD7 11044 broad.mit.edu 37 5 6753029 6753029 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:6753029T>C ENST00000230859.6 + 12 1442 c.1313T>C c.(1312-1314)gTt>gCt p.V438A NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 438 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GTTGCTCCTGTTCCTTGCAGA 0.547000 67 10 0 0 0.000781405 0 0 BHMT2 23743 broad.mit.edu 37 5 78379595 78379595 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:78379595G>A ENST00000255192.3 + 7 992 c.926G>A c.(925-927)aGg>aAg p.R309K BHMT2_ENST00000521567.1_Missense_Mutation_p.R245K|DMGDH_ENST00000520388.1_Intron NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 309 methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) GCCCCAGAAAGGGGCTTTTTG 0.532000 20 24 0 0 0.00121646 0 0 ZBBX 79740 broad.mit.edu 37 3 167000104 167000104 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:167000104G>A ENST00000392766.2 - 19 2399 c.2059C>T c.(2059-2061)Ctt>Ttt p.L687F ZBBX_ENST00000455345.2_Missense_Mutation_p.L726F|ZBBX_ENST00000307529.5_Missense_Mutation_p.L726F|ZBBX_ENST00000392764.1_Missense_Mutation_p.L658F|ZBBX_ENST00000392767.2_Missense_Mutation_p.L687F NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 687 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TCTAAGGAAAGCTCATTCTGG 0.353000 38 42 0 0 0.000692331 0 0 TNFSF11 8600 broad.mit.edu 37 13 43181040 43181040 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:43181040C>T ENST00000398795.2 + 5 1089 c.721C>T c.(721-723)Cga>Tga p.R241* TNFSF11_ENST00000239849.6_Nonsense_Mutation_p.R314*|TNFSF11_ENST00000405262.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000358545.2_Nonsense_Mutation_p.R241*|TNFSF11_ENST00000544862.1_Nonsense_Mutation_p.R241* NM_003701.3 NP_003692.1 O14788 TNF11_HUMAN tumor necrosis factor (ligand) superfamily, member 11 314 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) TTTTAAAGTTCGAGATATAGA 0.408000 20 56 0 0 0.00121646 0 0 SCAND3 114821 broad.mit.edu 37 6 28539923 28539923 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28539923G>A ENST00000452236.2 - 4 4360 c.3743C>T c.(3742-3744)tCa>tTa p.S1248L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1248 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 tatccaaaatgaaggaagtga 0.373000 34 43 0 0 0.000491102 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101735366 101735366 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:101735366C>T ENST00000506729.1 - 10 1878 c.1707G>A c.(1705-1707)ggG>ggA p.G569G SLCO6A1_ENST00000379810.1_Silent_p.G316G|SLCO6A1_ENST00000513675.1_Silent_p.G316G|SLCO6A1_ENST00000379807.3_Silent_p.G569G|SLCO6A1_ENST00000389019.3_Silent_p.G507G Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 569 integral to membrane|plasma membrane transporter activity p.G569G(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CATCACATTTCCCGGGTCTGG 0.368000 40 32 0 0 0.000509022 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519373 113519373 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:113519373C>T ENST00000284601.3 - 4 1842 c.1774G>A c.(1774-1776)Gaa>Aaa p.E592K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 592 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACAGCTTCTTCCCAACTTAAA 0.468000 21 115 0 0 0.000375601 0 0 WDR74 54663 broad.mit.edu 37 11 62601757 62601757 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62601757G>A ENST00000525239.1 - 9 1303 c.766C>T c.(766-768)Ctt>Ttt p.L256F WDR74_ENST00000311713.7_Missense_Mutation_p.L256F|WDR74_ENST00000278856.4_Missense_Mutation_p.L256F|WDR74_ENST00000529106.1_Missense_Mutation_p.L256F|WDR74_ENST00000525752.1_Missense_Mutation_p.L199F Q6RFH5 WDR74_HUMAN WD repeat domain 74 256 nucleolus kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1) 8 CCTTGCCGAAGGTCAATTTCT 0.567000 79 54 0 0 0.000781405 0 0 DNAH10 196385 broad.mit.edu 37 12 124335607 124335607 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:124335607G>A ENST00000409039.3 + 34 5946 c.5921G>A c.(5920-5922)gGc>gAc p.G1974D NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1974 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTCTCTGAGGGCTTCCTGGAG 0.642000 15 36 0 0 0.000566183 0 0 CDH22 64405 broad.mit.edu 37 20 44806775 44806775 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:44806775G>A ENST00000372262.3 - 10 2125 c.1725C>T c.(1723-1725)ttC>ttT p.F575F CDH22_ENST00000537909.1_Silent_p.F575F NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 575 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TGGGCAGGAAGAACACGTCCT 0.647000 13 29 0 0 0.00136819 0 0 SPRED2 200734 broad.mit.edu 37 2 65543943 65543943 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:65543943G>A ENST00000356388.4 - 5 702 c.513C>T c.(511-513)tcC>tcT p.S171S SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Silent_p.S168S NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 171 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 GGTGCTCACAGGATGTGGGAG 0.527000 23 27 0 0 0.000375601 0 0 PKP2 5318 broad.mit.edu 37 12 32945632 32945632 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:32945632G>A ENST00000340811.4 - 12 2499 c.2391C>T c.(2389-2391)tcC>tcT p.S797S PKP2_ENST00000070846.6_Silent_p.S841S NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 841 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ACAGAAGGACGGAAGCAGCTT 0.473000 48 52 0 0 0.000781405 0 0 DSCR4 10281 broad.mit.edu 37 21 39427000 39427000 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:39427000C>T ENST00000328264.3 - 3 410 c.306G>A c.(304-306)aaG>aaA p.K102K DSCR4_ENST00000398948.1_Intron NM_005867.2 NP_005858.1 P56555 DSCR4_HUMAN Down syndrome critical region gene 4 102 large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 6 CATCTGATTTCTTGTGGAGCC 0.473000 50 56 0 0 0.000781405 0 0 ZNF658 26149 broad.mit.edu 37 9 40773090 40773090 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:40773090G>A ENST00000602553.1 - 5 2479 c.2185C>T c.(2185-2187)Ctt>Ttt p.L729F ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.L729F Q5TYW1 ZN658_HUMAN zinc finger protein 658 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGTGCTCTAAGGGCTGAATTA 0.418000 113 17 0 0 0.000781405 0 0 SOWAHA 134548 broad.mit.edu 37 5 132150734 132150734 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132150734C>T ENST00000378693.2 + 1 1702 c.1421C>T c.(1420-1422)tCc>tTc p.S474F NM_175873.4 NP_787069.3 Q2M3V2 ANR43_HUMAN sosondowah ankyrin repeat domain family member A 474 ATCCTCAGTTCCACCACCAGT 0.637000 10 10 0 0 0.000442599 0 0 OR10J3 441911 broad.mit.edu 37 1 159284216 159284216 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159284216G>A ENST00000332217.5 - 1 233 c.234C>T c.(232-234)atC>atT p.I78I NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TATGGGGAATGATGGCCACAG 0.483000 55 49 0 0 0.000781405 0 0 NOD2 64127 broad.mit.edu 37 16 50753891 50753891 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:50753891C>T ENST00000300589.2 + 7 2791 c.2686C>T c.(2686-2688)Cga>Tga p.R896* NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 896 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CGAGGGGCTCCGAGGCAACAC 0.597000 70 41 0 0 0.000781405 0 0 IFIH1 64135 broad.mit.edu 37 2 163139026 163139026 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:163139026G>A ENST00000263642.2 - 6 1551 c.1156C>T c.(1156-1158)Cgt>Tgt p.R386C NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 386 Helicase ATP-binding. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CCAATAACACGATACCATTTC 0.338000 20 25 0 0 0.00121646 0 0 PZP 5858 broad.mit.edu 37 12 9353559 9353559 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:9353559C>T ENST00000261336.2 - 6 627 c.599G>A c.(598-600)gGc>gAc p.G200D PZP_ENST00000381997.2_Missense_Mutation_p.G69D NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CCTGTAGGAGCCCTGAATGGG 0.483000 69 29 0 0 0.000781405 0 0 SSTR3 6753 broad.mit.edu 37 22 37603069 37603069 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:37603069C>T ENST00000328544.3 - 2 1307 c.774G>A c.(772-774)atG>atA p.M258I SSTR3_ENST00000402501.1_Missense_Mutation_p.M258I NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 258 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 CGGCCACCACCATGCGCGTGA 0.677000 53 43 0 0 0.000781405 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093053 30093053 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:30093053C>T ENST00000567636.1 + 0 1428 NR_003558.1 TGAACCTTCCCCCTGGACCAC 0.577000 8 5 0 0 0.000157383 0 0 IL17RE 132014 broad.mit.edu 37 3 9948696 9948696 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:9948696C>T ENST00000454190.2 + 6 663 c.578C>T c.(577-579)aCc>aTc p.T193I IL17RE_ENST00000421412.1_Missense_Mutation_p.T226I|IL17RE_ENST00000295980.3_Missense_Mutation_p.T193I|IL17RE_ENST00000383814.3_Missense_Mutation_p.T193I NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 193 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) ATTCGGGTGACCATATCTTCA 0.572000 25 48 0 0 0.000586117 0 0 FANCD2 2177 broad.mit.edu 37 3 10136910 10136910 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:10136910C>T ENST00000287647.3 + 41 4083 c.3990C>T c.(3988-3990)acC>acT p.T1330T FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Silent_p.T1330T|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Silent_p.T1330T|FANCD2OS_ENST00000436517.1_Intron NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1330 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TACTGGAAACCTTCCAGTTGG 0.428000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 11 14 0 0 0.00136819 0 0 CELSR2 1952 broad.mit.edu 37 1 109810212 109810212 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:109810212C>T ENST00000271332.3 + 16 6117 c.6056C>T c.(6055-6057)cCc>cTc p.P2019L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2019 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGGTGGCTCCCCCCAAACCTC 0.587000 83 341 0 0 0.000781405 0 0 PSG1 5669 broad.mit.edu 37 19 43382351 43382351 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:43382351C>T ENST00000244296.2 - 2 281 c.144G>A c.(142-144)ggG>ggA p.G48G PSG1_ENST00000595356.1_Silent_p.G48G|PSG1_ENST00000403380.3_Silent_p.G48G|PSG1_ENST00000312439.6_Silent_p.G48G|PSG1_ENST00000436291.2_Silent_p.G48G|PSG1_ENST00000595124.1_Silent_p.G48G|PSG1_ENST00000601073.1_5'UTR NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GAACATCCTTCCCCTCGGAAA 0.478000 22 63 0 0 0.0024448 0 0 KMT2E 55904 broad.mit.edu 37 7 104752740 104752740 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:104752740G>A ENST00000334877.4 + 26 4945 c.4411G>A c.(4411-4413)Gca>Aca p.A1471T SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.A568T|KMT2E_ENST00000311117.3_Missense_Mutation_p.A1513T|KMT2E_ENST00000257745.4_Missense_Mutation_p.A1513T lysine (K)-specific methyltransferase 2E TACTCAGCAGGCAACTTCTGG 0.478000 84 36 0 0 0.000781405 0 0 MNDA 4332 broad.mit.edu 37 1 158819007 158819007 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:158819007G>A ENST00000368141.4 + 7 1465 c.1204G>A c.(1204-1206)Gga>Aga p.G402R NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 402 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.G402fs*3(1) NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AAACAAGGAAGGACCAATGAA 0.318000 22 19 0 0 0.00106085 0 0 SLC19A1 6573 broad.mit.edu 37 21 46951972 46951972 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:46951972G>A ENST00000311124.4 - 3 432 c.280C>T c.(280-282)Ccg>Tcg p.P94S SLC19A1_ENST00000567670.1_Missense_Mutation_p.P94S|SLC19A1_ENST00000485649.2_Missense_Mutation_p.P54S|SLC19A1_ENST00000380010.4_Missense_Mutation_p.P94S NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 94 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) AGCAGCACCGGCGTGTAGCGC 0.647000 16 39 0 0 0.00074312 0 0 FCGR3B 2215 broad.mit.edu 37 1 161594362 161594362 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:161594362C>T ENST00000294800.3 - 5 918 c.645G>A c.(643-645)atG>atA p.M215I FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.M215I|FCGR3B_ENST00000531221.1_Missense_Mutation_p.M251I NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 215 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 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) AAAGGAGTACCATCACCAAGC 0.413000 41 26 0 0 0.000509022 0 0 EHF 26298 broad.mit.edu 37 11 34664228 34664228 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:34664228C>T ENST00000257831.3 + 2 172 c.51C>T c.(49-51)ctC>ctT p.L17L EHF_ENST00000531794.1_Silent_p.L39L|EHF_ENST00000533754.1_Silent_p.L17L|EHF_ENST00000527935.1_Silent_p.L17L|EHF_ENST00000527001.1_3'UTR|EHF_ENST00000450654.2_Silent_p.L17L|EHF_ENST00000530286.1_Silent_p.L17L|EHF_ENST00000531728.1_Silent_p.L17L NM_012153.5 NP_036285.2 Q9NZC4 EHF_HUMAN ets homologous factor 17 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) GCAACAACCTCCTTCACCAGC 0.537000 13 26 0 0 0.000219431 0 0 RGPD8 727851 broad.mit.edu 37 2 113127769 113127769 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:113127769G>A ENST00000302558.3 - 23 5475 c.5284C>T c.(5284-5286)Cgt>Tgt p.R1762C RGPD8_ENST00000409750.1_Missense_Mutation_p.R1622C NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CCAGAAGAACGGGAAGGATTT 0.299000 40 60 0 0 0.000781405 0 0 DHX9 1660 broad.mit.edu 37 1 182852480 182852480 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:182852480C>T ENST00000367549.3 + 25 3231 c.3121C>T c.(3121-3123)Ccc>Tcc p.P1041S DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1041 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GTACCCATCTCCCTTCTTTGT 0.343000 26 19 0 0 0.00178596 0 0 FITM1 161247 broad.mit.edu 37 14 24601566 24601566 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:24601566C>T ENST00000267426.5 + 2 702 c.413C>T c.(412-414)gCc>gTc p.A138V FITM1_ENST00000559294.1_5'UTR NM_203402.2 NP_981947.1 A5D6W6 FITM1_HUMAN fat storage-inducing transmembrane protein 1 138 lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 TGGCGGGGAGCCGGCCGGGCC 0.672000 18 47 0 0 0.000958276 0 0 ST14 6768 broad.mit.edu 37 11 130066311 130066311 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:130066311C>T ENST00000278742.5 + 10 1609 c.1191C>T c.(1189-1191)tgC>tgT p.C397C NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 397 CUB 2. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CGGGCACCTGCCCCAAGGACT 0.657000 6 3 0 0 0.00198382 0 0 POLI 11201 broad.mit.edu 37 18 51820381 51820381 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:51820381C>T ENST00000579534.1 + 10 1910 c.1767C>T c.(1765-1767)tcC>tcT p.S589S POLI_ENST00000217800.5_Silent_p.S463S|POLI_ENST00000406285.3_Silent_p.S510S|POLI_ENST00000579434.1_Silent_p.S486S NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 589 Ser-rich. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) ATCATTTATCCAGTAGCAAAC 0.368000 DNA polymerases (catalytic subunits) 23 43 0 0 0.000375601 0 0 HID1 283987 broad.mit.edu 37 17 72949729 72949729 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:72949729C>T ENST00000425042.2 - 15 1959 c.1882G>A c.(1882-1884)Gag>Aag p.E628K NM_030630.2 NP_085133.1 HID1 domain containing TGGGACTTCTCGGTCAGCTTG 0.597000 12 36 0 0 0.000308642 0 0 CAMK2B 816 broad.mit.edu 37 7 44323761 44323761 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:44323761C>T ENST00000395749.2 - 2 205 c.129G>A c.(127-129)aaG>aaA p.K43K CAMK2B_ENST00000457475.1_Silent_p.K43K|CAMK2B_ENST00000395747.2_Silent_p.K43K|CAMK2B_ENST00000358707.3_Silent_p.K43K|CAMK2B_ENST00000350811.3_Silent_p.K43K|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000258682.6_Silent_p.K43K|CAMK2B_ENST00000346990.4_Silent_p.K43K|CAMK2B_ENST00000353625.4_Silent_p.K43K|CAMK2B_ENST00000347193.4_Silent_p.K43K|CAMK2B_ENST00000440254.2_Silent_p.K43K NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 43 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TGTTGATGATCTTGGCTGCAT 0.617000 9 15 0 0 0.000673444 0 0 SNTG2 54221 broad.mit.edu 37 2 1168827 1168827 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1168827C>T ENST00000308624.5 + 8 678 c.549C>T c.(547-549)ctC>ctT p.L183L SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 183 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.L183L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCTCTCCCCTCTTTGACAGCG 0.478000 86 65 0 0 0.000781405 0 0 PCDH15 65217 broad.mit.edu 37 10 55591294 55591294 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:55591294C>T ENST00000373965.2 - 31 4399 c.e31-1 PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000463095.1_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATCCAAAAATCTTTATTGTTA 0.338000 HNSCC(58;0.16) 20 10 0 0 0.00188189 0 0 VWA3B 200403 broad.mit.edu 37 2 98928305 98928305 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:98928305C>T ENST00000477737.1 + 27 3749 c.3545C>T c.(3544-3546)tCt>tTt p.S1182F VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1182 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCGAGGAACTCTGCTTTCCTC 0.572000 15 16 0 0 0.000566183 0 0 PCLO 27445 broad.mit.edu 37 7 82476562 82476562 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:82476562C>T ENST00000423517.2 - 11 13993 c.13654_splice c.e11-1 p.G4552_splice PCLO_ENST00000333891.8_Splice_Site_p.G4552_splice|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4440 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATACTTGCATCCCTAGAAAGA 0.353000 20 6 0 0 0.00188189 0 0 SYT8 90019 broad.mit.edu 37 11 1858493 1858493 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:1858493C>T ENST00000341958.3 + 8 1298 c.996C>T c.(994-996)caC>caT p.H332H SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Silent_p.H346H Q8NBV8 SYT8_HUMAN synaptotagmin VIII 346 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCAAGGTGCACCTGGGTGCCC 0.706000 11 6 0 0 0.000978159 0 0 KANSL1 284058 broad.mit.edu 37 17 44144014 44144014 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:44144014G>A ENST00000262419.6 - 6 2207 c.1737C>T c.(1735-1737)ctC>ctT p.L579L KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.L579L|KANSL1_ENST00000574590.1_Silent_p.L579L|KANSL1_ENST00000572904.1_Silent_p.L579L|KANSL1_ENST00000432791.1_Silent_p.L579L NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 579 MLL1 complex protein binding ATGAAGAGACGAGATTCAGTC 0.517000 15 29 0 0 0.00074312 0 0 RERGL 79785 broad.mit.edu 37 12 18234351 18234351 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:18234351C>T ENST00000229002.2 - 6 598 c.392G>A c.(391-393)cGa>cAa p.R131Q RERGL_ENST00000538724.1_Missense_Mutation_p.R130Q|RERGL_ENST00000536890.1_3'UTR|RERGL_ENST00000541632.1_5'UTR NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 131 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 GCCAACCTCTCGCACATGACA 0.448000 13 40 0 0 0.00136819 0 0 RIMS2 9699 broad.mit.edu 37 8 104922429 104922429 + Splice_Site SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:104922429G>A ENST00000507740.1 + 3 1352 c.1116_splice c.e3+1 p.L372_splice RIMS2_ENST00000436393.2_Splice_Site_p.L342_splice|RIMS2_ENST00000406091.3_Splice_Site_p.L564_splice|RIMS2_ENST00000262231.10_Intron NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 642 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAATGTCTTTGGTGAGACATG 0.368000 HNSCC(12;0.0054) 53 123 0 0 0.000781405 0 0 COL7A1 1294 broad.mit.edu 37 3 48624918 48624918 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:48624918C>T ENST00000328333.8 - 22 3034 c.2927G>A c.(2926-2928)tGg>tAg p.W976* COL7A1_ENST00000454817.1_Nonsense_Mutation_p.W976* NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 976 Fibronectin type-III 9.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACTGGAGTCCAGGCCAAAGT 0.587000 31 3 0 0 0.000491102 0 0 MYH6 4624 broad.mit.edu 37 14 23870134 23870134 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:23870134C>T ENST00000405093.3 - 13 1264 c.1194G>A c.(1192-1194)aaG>aaA p.K398K MYH6_ENST00000356287.3_Silent_p.K398K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 398 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGCACAGCCCCTTGAGCAGGT 0.547000 14 31 0 0 0.000422831 0 0 ZNF263 10127 broad.mit.edu 37 16 3339984 3339984 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:3339984C>T ENST00000219069.5 + 6 2354 c.1478C>T c.(1477-1479)cCt>cTt p.P493L ZNF263_ENST00000538765.1_Missense_Mutation_p.P141L NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 493 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 TACAAGTGCCCTGAGTGTGGG 0.522000 7 27 0 0 0.000157383 0 0 C15orf59 388135 broad.mit.edu 37 15 74032412 74032412 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:74032412G>A ENST00000569673.1 - 3 1932 c.728C>T c.(727-729)tCt>tTt p.S243F C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.S243F Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 243 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGTCAGTGGAGAGCGCCGTGA 0.637000 33 41 0 0 0.00178596 0 0 MPZ 4359 broad.mit.edu 37 1 161275690 161275690 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:161275690C>T ENST00000336559.4 - 7 788 c.722G>A c.(721-723)gGg>gAg p.G241E MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_Silent_p.G45G|MPZ_ENST00000360451.6_Silent_p.G251G|MPZ_ENST00000533357.1_Silent_p.G241G P25189 MYP0_HUMAN myelin protein zero 241 synaptic transmission integral to plasma membrane structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGCGAGACTCCCCCAGCCCCT 0.607000 53 31 0 0 0.000781405 0 0 MAP2K1 5604 broad.mit.edu 37 15 66727569 66727569 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:66727569C>T ENST00000307102.5 + 2 816 c.285C>T c.(283-285)gcC>gcT p.A95A NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 95 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 TGGTCATGGCCAGAAAGGTGA 0.488000 70 43 0 0 0.000781405 0 0 IGKV6D-41 28869 broad.mit.edu 37 2 90109020 90109020 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:90109020C>T ENST00000390271.2 + 0 311 CCTTTACCATCAGTAGCCTGG 0.498000 30 28 0 0 0.00209593 0 0 MAS1 4142 broad.mit.edu 37 6 160328212 160328212 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:160328212C>T ENST00000252660.4 + 1 239 c.225C>T c.(223-225)atC>atT p.I75I NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 75 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) ACCTGTCTATCGCAGACATCT 0.438000 102 14 0 0 0.000781405 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951458 119951458 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:119951458G>A ENST00000307142.4 + 4 1724 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E510K|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E510K NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 510 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGCCCAAAAAGAAGAGGACAA 0.522000 8 13 0 0 0.000157383 0 0 PHF8 23133 broad.mit.edu 37 X 53966798 53966798 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:53966798G>A ENST00000338154.6 - 21 3305 c.2801C>T c.(2800-2802)cCc>cTc p.P934L PHF8_ENST00000338946.6_Missense_Mutation_p.P833L|PHF8_ENST00000357988.5_Missense_Mutation_p.P970L NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 970 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 AGGAGGCAGGGGTGAGGAGGA 0.582000 10 0 0 0 0.000978159 0 0 LRP1B 53353 broad.mit.edu 37 2 141986947 141986947 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:141986947G>A ENST00000389484.3 - 6 1626 c.655C>T c.(655-657)Ctt>Ttt p.L219F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 219 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTTCCATTAAGATAGAAAACC 0.289000 TSP Lung(27;0.18) 32 30 0 0 0.00209593 0 0 TP53TG5 27296 broad.mit.edu 37 20 44003783 44003783 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:44003783C>T ENST00000372726.3 - 4 820 c.664G>A c.(664-666)Gcg>Acg p.A222T SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.A206T|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron NM_014477.2 NP_055292.1 Q9Y2B4 T53G5_HUMAN TP53 target 5 222 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 12 ACCCTGGGCGCCGGGAGGTGG 0.602000 48 38 0 0 0.000781405 0 0 C14orf177 283598 broad.mit.edu 37 14 99183513 99183513 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:99183513C>T ENST00000325812.2 + 4 699 c.280C>T c.(280-282)Cac>Tac p.H94Y NM_182560.2 NP_872366.2 Q52M58 CN177_HUMAN chromosome 14 open reading frame 177 94 endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 13 Melanoma(154;0.128) GTCATGTAATCACCAAATAAT 0.423000 39 28 0 0 0.00170553 0 0 DAGLA 747 broad.mit.edu 37 11 61507965 61507965 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:61507965T>C ENST00000257215.5 + 18 2000 c.1884T>C c.(1882-1884)ttT>ttC p.F628F NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 628 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCACATACTTTGCCATCTGGG 0.607000 47 88 0 0 0.000781405 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399035 22399035 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:22399035G>A ENST00000263160.3 + 12 1935 c.1498G>A c.(1498-1500)Gga>Aga p.G500R NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 500 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 ATTTGCCTCAGGAGAGAAACA 0.438000 14 22 0 0 0.00185496 0 0 COL22A1 169044 broad.mit.edu 37 8 139626126 139626126 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139626126C>T ENST00000303045.6 - 56 4408 c.3962G>A c.(3961-3963)gGa>gAa p.G1321E COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1301E NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1321 Collagen-like 13.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCCCTTGGTCCTTGGGGACC 0.502000 HNSCC(7;0.00092) 54 185 0 0 0.000781405 0 0 MYH1 4619 broad.mit.edu 37 17 10408556 10408556 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:10408556G>A ENST00000226207.5 - 21 2453 c.2359C>T c.(2359-2361)Cag>Tag p.Q787* CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 787 IQ. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTAATCAGCTGGGCCAGCTTC 0.438000 80 4 0 0 0.000781405 0 0 SLC6A12 6539 broad.mit.edu 37 12 308072 308072 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:308072G>A ENST00000428720.1 - 8 1480 c.737C>T c.(736-738)cCg>cTg p.P246L SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P246L|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P246L|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P246L|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P246L NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 246 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) CATCAGGTACGGAAACGTGGC 0.582000 23 31 0 0 0.000878237 0 0 PDE6B 5158 broad.mit.edu 37 4 619505 619505 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:619505G>A ENST00000255622.6 + 1 133 c.90G>A c.(88-90)gaG>gaA p.E30E PDE6B_ENST00000496514.1_Silent_p.E30E NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 30 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 TGAGCCCTGAGAATGTGGCCG 0.662000 22 21 0 0 0.000375601 0 0 TMEM174 134288 broad.mit.edu 37 5 72469311 72469311 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:72469311G>A ENST00000296776.5 + 1 290 c.241G>A c.(241-243)Gtt>Att p.V81I TMEM174_ENST00000511737.1_3'UTR NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 81 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) CCTGCTGTCAGTTGGGGTGAC 0.532000 52 64 0 0 0.000781405 0 0 TMEM248 55069 broad.mit.edu 37 7 66410104 66410104 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:66410104C>T ENST00000341567.4 + 3 556 c.301C>T c.(301-303)Ccc>Tcc p.P101S NM_017994.4 NP_060464.1 transmembrane protein 248 CACCCAGTCCCCCCAGGCCCT 0.572000 34 49 0 0 0.00058488 0 0 MYO9B 4650 broad.mit.edu 37 19 17212990 17212990 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:17212990C>T ENST00000595618.1 + 2 615 c.463C>T c.(463-465)Ccc>Tcc p.P155S MYO9B_ENST00000594824.1_Missense_Mutation_p.P155S|MYO9B_ENST00000397274.2_Missense_Mutation_p.P155S NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 155 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GTGTAACCTCCCCGAGCTAAC 0.622000 50 31 0 0 0.000781405 0 0 RETNLB 84666 broad.mit.edu 37 3 108474705 108474705 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:108474705C>T ENST00000295755.6 - 3 454 c.256G>A c.(256-258)Gat>Aat p.D86N RETNLB_ENST00000482939.1_Intron NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 86 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 AGCTGAACATCCCACGAACCA 0.572000 31 37 0 0 0.00178596 0 0 PSG2 5670 broad.mit.edu 37 19 43585319 43585319 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:43585319C>T ENST00000406487.1 - 2 242 c.144G>A c.(142-144)ggG>ggA p.G48G NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 48 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GAACATCCTTCCCCTCGGAAA 0.478000 9 110 0 0 0.000308642 0 0 STK36 27148 broad.mit.edu 37 2 219561263 219561263 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:219561263C>T ENST00000295709.3 + 22 2804 c.2525C>T c.(2524-2526)cCa>cTa p.P842L STK36_ENST00000392105.3_Intron|STK36_ENST00000440309.1_Missense_Mutation_p.P842L|STK36_ENST00000392106.2_Intron NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 842 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CGGTTGACTCCACCAGGTAGT 0.498000 49 38 0 0 0.000781405 0 0 TRIM56 81844 broad.mit.edu 37 7 100732634 100732634 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100732634C>T ENST00000306085.6 + 3 2338 c.2041C>T c.(2041-2043)Ccg>Tcg p.P681S NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 681 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) TGGCTGCCAGCCGGGCTCCGT 0.587000 91 33 0 0 0.000781405 0 0 FAM83E 54854 broad.mit.edu 37 19 49107041 49107041 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:49107041G>A ENST00000263266.3 - 4 1075 c.886C>T c.(886-888)Ccc>Tcc p.P296S NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 296 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGTTTCTGGGGGGGCGCAGGT 0.721000 7 5 0 0 0.00198382 0 0 TENM1 10178 broad.mit.edu 37 X 123839007 123839007 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:123839007G>A ENST00000422452.2 - 5 934 c.871C>T c.(871-873)Cct>Tct p.P291S TENM1_ENST00000371130.3_Missense_Mutation_p.P291S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GGCCTGGGAGGGGGCGAGTAC 0.527000 40 7 0 0 0.00222228 0 0 DPP4 1803 broad.mit.edu 37 2 162865131 162865131 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:162865131C>T ENST00000360534.3 - 22 2488 c.1928G>A c.(1927-1929)gGa>gAa p.G643E DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 643 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) CACGCCACTTCCCGATCCCAG 0.463000 50 60 0 0 0.000781405 0 0 PGBD1 84547 broad.mit.edu 37 6 28268885 28268885 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28268885C>T ENST00000405948.2 + 7 1674 c.1254C>T c.(1252-1254)aaC>aaT p.N418N PGBD1_ENST00000259883.3_Silent_p.N418N NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 418 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 AAAAGTTGAACCCAGTAGAGC 0.358000 40 86 0 0 0.00222228 0 0 POLR3B 55703 broad.mit.edu 37 12 106824229 106824229 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:106824229C>G ENST00000228347.4 + 14 1664 c.1442C>G c.(1441-1443)cCt>cGt p.P481R POLR3B_ENST00000539066.1_Missense_Mutation_p.P423R NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 481 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 ATGCTGTGTCCTTCGGACACT 0.527000 16 44 0 0 0.00074312 0 0 TNRC6A 27327 broad.mit.edu 37 16 24803029 24803029 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:24803029G>A ENST00000395799.3 + 6 3195 c.3066G>A c.(3064-3066)tgG>tgA p.W1022* TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.W1022* NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1022 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TGAACATGTGGAACAAAAACG 0.458000 19 35 0 0 0.00121646 0 0 ROR2 4920 broad.mit.edu 37 9 94499761 94499761 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:94499761C>T ENST00000375708.3 - 5 732 c.534G>A c.(532-534)cgG>cgA p.R178R ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.R38R NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 178 FZ. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGGCAATTCCCCGGTAAGGCT 0.532000 35 5 0 0 0.00148497 0 0 ZNF585A 199704 broad.mit.edu 37 19 37660790 37660790 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37660790G>A ENST00000356958.4 - 2 281 c.23C>T c.(22-24)cCt>cTt p.P8L ZNF585A_ENST00000588354.1_Missense_Mutation_p.P8L|ZNF585A_ENST00000588723.1_5'UTR|CTC-454I21.3_ENST00000585860.2_3'UTR|ZNF585A_ENST00000355533.2_5'UTR|ZNF585A_ENST00000392157.2_5'UTR|ZNF585A_ENST00000292841.5_5'UTR Q6P3V2 Z585A_HUMAN zinc finger protein 585A 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGATTTCTGAGGTGAGGTCCA 0.537000 11 12 0 0 0.00136819 0 0 HERC2P2 400322 broad.mit.edu 37 15 23299951 23299951 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:23299951G>A ENST00000560464.1 - 0 4336 GCACCAGTGAGAGACTTCAGG 0.577000 13 11 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179427361 179427361 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179427361C>T ENST00000589042.1 - 326 83722 c.83498G>A c.(83497-83499)gGa>gAa p.G27833E TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G18960E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25265E|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18893E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18768E|TTN_ENST00000591111.1_Missense_Mutation_p.G26192E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26192 Ig-like 130. 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) GTAAGAACATCCTTCTTGTAG 0.388000 37 51 0 0 0.000814825 0 0 PCSK5 5125 broad.mit.edu 37 9 78804657 78804657 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:78804657A>G ENST00000545128.1 + 20 3159 c.2621A>G c.(2620-2622)aAg>aGg p.K874R PCSK5_ENST00000376752.4_Missense_Mutation_p.K874R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 874 PLAC. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCCATTTGCAAGGATGGTGAG 0.408000 34 5 0 0 0.000491102 0 0 FAIM2 23017 broad.mit.edu 37 12 50295080 50295080 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:50295080G>A ENST00000320634.3 - 2 138 c.44C>T c.(43-45)aCc>aTc p.T15I FAIM2_ENST00000550890.1_5'UTR NM_012306.3 NP_036438.2 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 15 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 CTGCCCCTCGGTCCCAGGGGC 0.607000 33 41 0 0 0.000814825 0 0 BTN1A1 696 broad.mit.edu 37 6 26505394 26505394 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:26505394C>T ENST00000244513.6 + 3 735 c.669C>T c.(667-669)ctC>ctT p.L223L NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 223 Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TCCAGAATCTCCTTCTTGGCC 0.463000 41 66 0 0 0.000589545 0 0 ADAM18 8749 broad.mit.edu 37 8 39564414 39564414 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:39564414C>T ENST00000265707.5 + 18 2053 c.2008C>T c.(2008-2010)Cag>Tag p.Q670* ADAM18_ENST00000379866.1_Nonsense_Mutation_p.Q646*|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Nonsense_Mutation_p.Q84* NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 670 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGGAAATTTTCAGAAATCTGG 0.328000 38 51 0 0 0.000953801 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170436 72170436 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72170436C>T ENST00000537465.1 - 9 1272 c.1114G>A c.(1114-1116)Gat>Aat p.D372N PMFBP1_ENST00000355636.6_Missense_Mutation_p.D227N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D372N Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 372 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) ATGTCCTTATCCTTCCTCTCA 0.552000 57 31 0 0 0.000781405 0 0 ASPH 444 broad.mit.edu 37 8 62489367 62489367 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:62489367G>A ENST00000541428.1 - 16 1186 c.1026C>T c.(1024-1026)taC>taT p.Y342Y ASPH_ENST00000379454.4_Silent_p.Y371Y NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 371 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) GACTCTGAGGGTATTTGCGTA 0.348000 45 62 0 0 0.000781405 0 0 FAM46B 115572 broad.mit.edu 37 1 27339028 27339028 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:27339028G>A ENST00000289166.5 - 1 299 c.134C>T c.(133-135)cCc>cTc p.P45L NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 45 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) GTGCCGTCCGGGGAAGGCCGA 0.731000 4 19 0 0 0.00024832 0 0 C20orf194 25943 broad.mit.edu 37 20 3297413 3297413 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3297413G>A ENST00000252032.9 - 18 1563 c.1496C>T c.(1495-1497)tCc>tTc p.S499F C20orf194_ENST00000453730.2_Missense_Mutation_p.S237F NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 499 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 CAGGACTACGGAGCTGGTTTC 0.532000 13 35 0 0 0.000566183 0 0 TSIX 9383 broad.mit.edu 37 X 73041479 73041479 + RNA SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:73041479C>A ENST00000604411.1 + 0 29440 XIST_ENST00000429829.1_lincRNA NR_003255.2 GGCAGGTTGCCCTTAAAACAG 0.428000 12 0 4.3838e-07 2.09523e-06 0.00185496 1 0 FAM47B 170062 broad.mit.edu 37 X 34961628 34961628 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:34961628C>T ENST00000329357.5 + 1 716 c.680C>T c.(679-681)cCt>cTt p.P227L NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 227 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CGCCCAGAGCCTCCCAAGACT 0.647000 21 2 0 0 0.00188189 0 0 CDH26 60437 broad.mit.edu 37 20 58567442 58567442 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:58567442G>A ENST00000348616.4 + 10 1593 c.1293G>A c.(1291-1293)ctG>ctA p.L431L CDH26_ENST00000244047.5_Silent_p.L431L NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 431 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GATATGAACTGGTTCATGACC 0.363000 18 39 0 0 0.000566183 0 0 UEVLD 55293 broad.mit.edu 37 11 18596940 18596940 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18596940C>T ENST00000396197.3 - 3 175 c.147G>A c.(145-147)caG>caA p.Q49Q UEVLD_ENST00000320750.6_Intron|UEVLD_ENST00000541984.1_Silent_p.Q49Q|UEVLD_ENST00000300038.7_Silent_p.Q49Q|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Silent_p.Q11Q|UEVLD_ENST00000543987.1_Silent_p.Q49Q|UEVLD_ENST00000379387.4_Intron NM_001040697.2|NM_001261384.1 NP_001035787.1|NP_001248313.1 Q8IX04 UEVLD_HUMAN UEV and lactate/malate dehyrogenase domains 49 UEV. cellular carbohydrate metabolic process|protein modification process|protein transport binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GCAGGTCTTTCTGAGAACTAT 0.338000 58 41 0 0 0.000781405 0 0 SPAG17 200162 broad.mit.edu 37 1 118598527 118598527 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:118598527C>T ENST00000336338.5 - 19 2616 c.2551G>A c.(2551-2553)Gaa>Aaa p.E851K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 851 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GCAACAAGTTCCAAATAATTC 0.318000 69 30 0 0 0.000781405 0 0 SUDS3 64426 broad.mit.edu 37 12 118827739 118827739 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:118827739C>T ENST00000543473.1 + 5 660 c.348C>T c.(346-348)ttC>ttT p.F116F SUDS3_ENST00000397564.2_Intron NM_022491.2 NP_071936.2 Q9H7L9 SDS3_HUMAN suppressor of defective silencing 3 homolog (S. cerevisiae) 116 chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent Sin3 complex histone deacetylase binding breast(1)|lung(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGAACTCTTCCTCCAGCTGG 0.448000 18 24 0 0 0.000566183 0 0 RPA3 6119 broad.mit.edu 37 7 7676679 7676679 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:7676679G>A ENST00000223129.4 - 8 1489 c.318C>T c.(316-318)atC>atT p.I106I RPA3_ENST00000406109.1_Silent_p.I67I|RPA3_ENST00000401447.1_Silent_p.I67I|RPA3_ENST00000396682.2_Silent_p.I106I NM_002947.3 NP_002938.1 P35244 RFA3_HUMAN replication protein A3, 14kDa 106 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair cytoplasm|DNA replication factor A complex|nucleoplasm protein binding|single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) GGAAGTCATGGATAATTTTCA 0.294000 Direct reversal of damage;Nucleotide excision repair (NER) 90 128 0 0 0.000781405 0 0 DNMBP 23268 broad.mit.edu 37 10 101715158 101715158 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:101715158G>A ENST00000342239.3 - 4 2164 c.2073C>T c.(2071-2073)tgC>tgT p.C691C DNMBP_ENST00000324109.4_Silent_p.C691C|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 691 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GCACTAAGGGGCATGGGGAGG 0.532000 23 0 0 0 0.00047179 0 0 TPD52 7163 broad.mit.edu 37 8 80962686 80962686 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:80962686G>A ENST00000518937.1 - 5 622 c.407C>T c.(406-408)tCc>tTc p.S136F TPD52_ENST00000520527.1_Missense_Mutation_p.S176F|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000537855.1_Intron|TPD52_ENST00000523395.1_Intron|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000448733.2_Intron|TPD52_ENST00000379097.3_Intron|TPD52_ENST00000517427.1_Missense_Mutation_p.S176F NM_001025253.1 NP_001020424.1 P55327 TPD52_HUMAN tumor protein D52 169 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TTACCTAAAGGAATGTGAAAA 0.348000 15 11 0 0 0.00074312 0 0 NUTM1 256646 broad.mit.edu 37 15 34649428 34649428 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34649428T>C ENST00000537011.1 + 8 3601 c.3219T>C c.(3217-3219)ggT>ggC p.G1073G NUTM1_ENST00000438749.3_Silent_p.G1063G|NUTM1_ENST00000333756.4_Silent_p.G1045G NUT midline carcinoma, family member 1 CCTCAGGAGGTCAGGGCAGCC 0.557000 12 63 0 0 0.00136819 0 0 SNTG2 54221 broad.mit.edu 37 2 1168853 1168853 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:1168853G>A ENST00000308624.5 + 8 704 c.575G>A c.(574-576)gGa>gAa p.G192E SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 192 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CATCTGAACGGAAACTCCAGT 0.443000 48 99 0 0 0.000781405 0 0 FSTL4 23105 broad.mit.edu 37 5 132939621 132939621 + Silent SNP C C T rs148304695 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132939621C>T ENST00000265342.7 - 2 303 c.54G>A c.(52-54)ccG>ccA p.P18P NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 18 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAGCGCAGCCGGCAGGGAGG 0.527000 37 38 0 0 0.00128727 0 0 SEMA5B 54437 broad.mit.edu 37 3 122667507 122667507 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:122667507G>A ENST00000195173.4 - 3 477 c.174C>T c.(172-174)atC>atT p.I58I SEMA5B_ENST00000357599.3_Silent_p.I58I|SEMA5B_ENST00000451055.2_Silent_p.I112I|SEMA5B_ENST00000465147.1_5'UTR Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 58 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CAAGCACCATGATAGGCCCCT 0.627000 17 30 0 0 0.000566183 0 0 RNF17 56163 broad.mit.edu 37 13 25444865 25444865 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:25444865G>A ENST00000255324.5 + 32 4487 c.4435G>A c.(4435-4437)Gat>Aat p.D1479N RNF17_ENST00000381921.1_Missense_Mutation_p.D1437N|RNF17_ENST00000339524.3_Missense_Mutation_p.D489N NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1479 Tudor 4. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCCTCTGACGGATTTTAGAAC 0.418000 8 13 0 0 0.000157383 0 0 ABCC10 89845 broad.mit.edu 37 6 43401062 43401062 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43401062C>T ENST00000244533.3 + 1 1574 c.1215C>T c.(1213-1215)aaC>aaT p.N405N ABCC10_ENST00000443426.2_3'UTR|ABCC10_ENST00000372530.4_Silent_p.N448N NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 448 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGGCCAGCAACCAGGAAATGC 0.597000 8 18 0 0 0.000274275 0 0 PAK1 5058 broad.mit.edu 37 11 77066759 77066759 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:77066759C>T ENST00000356341.3 - 7 1257 c.726G>A c.(724-726)caG>caA p.Q242Q PAK1_ENST00000278568.4_Silent_p.Q242Q|PAK1_ENST00000525542.1_Intron|PAK1_ENST00000530617.1_Silent_p.Q242Q|PAK1_ENST00000528203.1_Silent_p.Q144Q NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 242 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GCTTCTTCTTCTGCTTCTCAG 0.438000 69 55 0 0 0.000781405 0 0 PTPDC1 138639 broad.mit.edu 37 9 96860102 96860102 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:96860102C>T ENST00000375360.3 + 7 1432 c.1092C>T c.(1090-1092)tcC>tcT p.S364S PTPDC1_ENST00000288976.3_Silent_p.S416S NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 364 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TGATTTTCTCCAATGAGCAAC 0.488000 62 7 0 0 0.000781405 0 0 TDRD5 163589 broad.mit.edu 37 1 179632549 179632549 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:179632549G>A ENST00000444136.1 + 16 2822 c.2572G>A c.(2572-2574)Gga>Aga p.G858R TDRD5_ENST00000367614.1_Missense_Mutation_p.G804R|TDRD5_ENST00000294848.8_Missense_Mutation_p.G804R NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 835 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CCTTGTAAATGGAACGAAAGT 0.398000 30 29 0 0 0.0024448 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713875 142713875 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:142713875G>A ENST00000369381.2 - 0 730 TCCTGATTATGAAAATCCTAA 0.299000 7 52 0 0 0.000673444 0 0 GP6 51206 broad.mit.edu 37 19 55525799 55525799 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55525799G>A ENST00000310373.3 - 8 1541 c.1514C>T c.(1513-1515)tCg>tTg p.S505L CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_3'UTR|GP6_ENST00000333884.2_3'UTR NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 0 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) TCTGAGAGACGAAAGGAGATT 0.498000 39 161 0 0 0.00222228 0 0 GABRR1 2569 broad.mit.edu 37 6 89910970 89910970 + Missense_Mutation SNP C C T rs146686910 byFrequency TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:89910970C>T ENST00000435811.1 - 2 591 c.137G>A c.(136-138)cGa>cAa p.R46Q GABRR1_ENST00000454853.2_Missense_Mutation_p.R63Q|GABRR1_ENST00000369451.3_5'UTR NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 63 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GTCAGGACTTCGTCTCAGAAT 0.453000 44 8 0 0 0.000781405 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820261 159820261 + RNA SNP G G T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:159820261G>T ENST00000497452.1 - 0 517 GAAGAAATTTGGTGAGACCAC 0.463000 64 87 1.26778e-28 6.13607e-28 0.000781405 1 0 TSPAN17 26262 broad.mit.edu 37 5 176083872 176083872 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:176083872C>T ENST00000298564.10 + 4 627 c.478C>T c.(478-480)Cct>Tct p.P160S TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000508164.1_Intron|TSPAN17_ENST00000515708.1_Intron Q96FV3 TSN17_HUMAN tetraspanin 17 247 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCACTCTCCCCTCACCTGTC 0.627000 11 28 0 0 0.000958276 0 0 TTN 7273 broad.mit.edu 37 2 179603052 179603052 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179603052C>T ENST00000589042.1 - 49 14352 c.14128G>A c.(14128-14130)Gaa>Aaa p.E4710K TTN_ENST00000342175.6_Missense_Mutation_p.E4539K|TTN_ENST00000342992.6_Missense_Mutation_p.E3466K|TTN_ENST00000359218.5_Missense_Mutation_p.E4472K|TTN_ENST00000460472.2_Missense_Mutation_p.E4347K|TTN_ENST00000591111.1_Missense_Mutation_p.E4393K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4393 Ig-like 27. 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) AGTGCTACTTCCAGGGGTTCG 0.468000 18 10 0 0 0.00152264 0 0 MTL5 9633 broad.mit.edu 37 11 68514739 68514739 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:68514739G>A ENST00000443940.2 - 3 653 c.567C>T c.(565-567)ttC>ttT p.F189F MTL5_ENST00000255087.5_Silent_p.F189F|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Silent_p.F189F Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 189 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GGGACGATGGGAACTTGCAAC 0.418000 31 18 0 0 0.00209593 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754309 140754309 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140754309C>T ENST00000517434.1 + 1 659 c.659C>T c.(658-660)cCt>cTt p.P220L PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGCGACCCTGTCCGCTCA 0.557000 6 12 0 0 0.00116845 0 0 DNM3 26052 broad.mit.edu 37 1 171890898 171890898 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:171890898C>T ENST00000358155.4 + 2 348 c.172C>T c.(172-174)Cct>Tct p.P58S DNM3_ENST00000367733.2_Missense_Mutation_p.P58S|DNM3_ENST00000355305.5_Missense_Mutation_p.P58S|DNM3_ENST00000520906.1_Missense_Mutation_p.P58S|DNM3_ENST00000367731.1_Missense_Mutation_p.P58S NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 58 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GGACTTTCTCCCTCGAGGGTC 0.413000 6 12 0 0 0.00116845 0 0 TGM6 343641 broad.mit.edu 37 20 2380989 2380989 + Silent SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:2380989C>A ENST00000202625.2 + 7 949 c.888C>A c.(886-888)tcC>tcA p.S296S TGM6_ENST00000381423.1_Silent_p.S296S|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 296 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GGGTCGTGTCCAACTTCAACT 0.617000 5 60 8.12818e-05 0.000386552 0.00198382 1 0 PLAUR 5329 broad.mit.edu 37 19 44160715 44160715 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:44160715C>T ENST00000221264.4 - 4 814 c.388G>A c.(388-390)Ggc>Agc p.G130S PLAUR_ENST00000340093.3_Missense_Mutation_p.G130S|PLAUR_ENST00000601723.1_Missense_Mutation_p.G130S|PLAUR_ENST00000339082.3_Missense_Mutation_p.G130S NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 130 UPAR/Ly6 2. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) TGGTGCCGGCCCCTCTCACAG 0.602000 19 34 0 0 0.000958276 0 0 CNST 163882 broad.mit.edu 37 1 246810669 246810669 + Missense_Mutation SNP C C T rs149528217 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:246810669C>T ENST00000366513.4 + 9 1435 c.1166C>T c.(1165-1167)tCt>tTt p.S389F CNST_ENST00000366512.3_Missense_Mutation_p.S389F|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 389 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 GGGCCAGACTCTTCTGAGGAT 0.592000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 118 55 0 0 0.000781405 0 0 EMX1 2016 broad.mit.edu 37 2 73160970 73160970 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:73160970G>A ENST00000258106.6 + 3 1138 c.760G>A c.(760-762)Gag>Aag p.E254K EMX1_ENST00000394111.5_3'UTR NM_004097.2 NP_004088.2 Q04741 EMX1_HUMAN empty spiracles homeobox 1 221 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(3) 6 GAAGCTGGAGGAGGAAGGGCC 0.597000 25 38 0 0 0.00127121 0 0 DIP2A 23181 broad.mit.edu 37 21 47969774 47969774 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:47969774C>T ENST00000318711.7 + 22 2799 c.2616C>T c.(2614-2616)ttC>ttT p.F872F DIP2A_ENST00000400274.1_Silent_p.F867F|DIP2A_ENST00000417564.2_Silent_p.F871F|DIP2A_ENST00000457905.3_Silent_p.F871F|DIP2A_ENST00000427143.2_Silent_p.F807F NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 871 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AGGACAGCTTCCAGTGGATGA 0.647000 63 60 0 0 0.000781405 0 0 MIR1324 100302212 broad.mit.edu 37 3 75679929 75679929 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:75679929G>A ENST00000408868.1 + 0 16 NR_031714.1 AGAGGTGCATGAAGCCTGGTC 0.562000 9 39 0 0 0.000978159 0 0 GALNT13 114805 broad.mit.edu 37 2 154801055 154801055 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:154801055G>A ENST00000392825.3 + 3 612 c.45G>A c.(43-45)ctG>ctA p.L15L GALNT13_ENST00000409237.1_Silent_p.L15L NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 15 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 CCACTTCGCTGATGTGGGTTC 0.418000 67 72 0 0 0.000781405 0 0 C12orf66 144577 broad.mit.edu 37 12 64588126 64588126 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:64588126G>A ENST00000311915.8 - 3 861 c.834C>T c.(832-834)agC>agT p.S278S C12orf66_ENST00000398055.3_Silent_p.S278S|C12orf66_ENST00000544871.1_Silent_p.S225S Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 278 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 TCGTTTGTCGGCTCAGAGCCT 0.433000 48 19 0 0 0.000781405 0 0 ESRRB 2103 broad.mit.edu 37 14 76958020 76958020 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:76958020G>A ENST00000380887.2 + 6 1090 c.1018G>A c.(1018-1020)Gag>Aag p.E340K ESRRB_ENST00000556177.1_Missense_Mutation_p.E340K|ESRRB_ENST00000261532.7_Missense_Mutation_p.E340K|ESRRB_ENST00000509242.1_Missense_Mutation_p.E340K A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 340 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) GGAGAAGGAGGAGTTTGTGAC 0.647000 5 2 0 0 0.00116845 0 0 ZNF257 113835 broad.mit.edu 37 19 22271622 22271622 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:22271622C>T ENST00000594947.1 + 4 1214 c.1070C>T c.(1069-1071)tCa>tTa p.S357L NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AACCGGTCTTCACACCTTACT 0.408000 25 14 0 0 0.00047179 0 0 PROKR1 10887 broad.mit.edu 37 2 68872977 68872977 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:68872977G>A ENST00000303786.3 + 2 444 c.24G>A c.(22-24)atG>atA p.M8I PROKR1_ENST00000394342.2_Missense_Mutation_p.M8I Q8TCW9 PKR1_HUMAN prokineticin receptor 1 8 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGGGGTTCATGGATGACAATG 0.547000 49 65 0 0 0.000781405 0 0 STON2 85439 broad.mit.edu 37 14 81743428 81743428 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:81743428G>A ENST00000555447.1 - 6 2639 c.2227C>T c.(2227-2229)Cgc>Tgc p.R743C STON2_ENST00000267540.2_Missense_Mutation_p.R743C NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 743 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) CTTTCCCTGCGGAAGTTTTTC 0.537000 27 79 0 0 0.00106085 0 0 ACTN3 89 broad.mit.edu 37 11 66321562 66321562 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:66321562C>T ENST00000513398.1 + 0 526 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 TGATCTGGACCATCATCCTTC 0.567000 11 20 0 0 0.00185496 0 0 DAB2 1601 broad.mit.edu 37 5 39376177 39376177 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:39376177G>A ENST00000545653.1 - 12 2636 c.2106C>T c.(2104-2106)tcC>tcT p.S702S DAB2_ENST00000509337.1_Silent_p.S702S|DAB2_ENST00000320816.6_Silent_p.S723S|DAB2_ENST00000339788.6_Silent_p.S505S NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 723 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) TAACTGGCAGGGAAACTTGTC 0.433000 28 3 0 0 0.00209593 0 0 EIF3D 8664 broad.mit.edu 37 22 36912528 36912528 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:36912528G>A ENST00000216190.8 - 12 1573 c.1203C>T c.(1201-1203)tcC>tcT p.S401S EIF3D_ENST00000405442.1_Silent_p.S401S|EIF3D_ENST00000541106.1_Silent_p.S352S NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 401 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 GGCTCACCCTGGAATCCCACT 0.493000 69 107 0 0 0.000781405 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42796807 42796807 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:42796807C>T ENST00000314073.5 + 6 912 c.736C>T c.(736-738)Cca>Tca p.P246S GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P246S GLTSCR1-like GCAGCAAGCCCCATCAAATGT 0.443000 40 63 0 0 0.00128727 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643784 37643784 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:37643784G>A ENST00000356958.4 - 5 1275 c.1017C>T c.(1015-1017)tcC>tcT p.S339S ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Silent_p.S284S|ZNF585A_ENST00000392157.2_Silent_p.S284S|ZNF585A_ENST00000292841.5_Silent_p.S284S Q6P3V2 Z585A_HUMAN zinc finger protein 585A 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAACGAGGTTGGAATTATTGC 0.403000 28 56 0 0 0.00127121 0 0 KRT16 3868 broad.mit.edu 37 17 39768789 39768789 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:39768789G>A ENST00000301653.4 - 1 216 c.152C>T c.(151-153)tCt>tTt p.S51F NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 51 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) AGAGGAGACAGACAGGCCGCC 0.716000 8 2 0 0 0.000157383 0 0 SKIV2L 6499 broad.mit.edu 37 6 31930846 31930846 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31930846C>T ENST00000375394.2 + 13 1494 c.1381C>T c.(1381-1383)Ctt>Ttt p.L461F SKIV2L_ENST00000544581.1_Missense_Mutation_p.L268F NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 461 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CCCCAACGCCCTTGAGTTTGC 0.582000 164 193 0 0 0.000781405 0 0 PPM1D 8493 broad.mit.edu 37 17 58678186 58678186 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:58678186G>A ENST00000305921.3 + 1 643 c.411G>A c.(409-411)aaG>aaA p.K137K NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 137 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AGCCGGCTAAGGTTTGCGCTG 0.602000 57 36 0 0 0.000781405 0 0 C4B 721 broad.mit.edu 37 6 31996295 31996295 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:31996295G>A ENST00000435363.2 + 25 3300 c.3216G>A c.(3214-3216)cgG>cgA p.R1072R C4B_ENST00000425700.2_Silent_p.R1072R NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1072 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GGTTGTCACGGGGCAGCAGCA 0.627000 38 38 0 0 0.000589545 0 0 LEKR1 389170 broad.mit.edu 37 3 156710923 156710923 + Missense_Mutation SNP A A T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:156710923A>T ENST00000470811.1 + 10 1389 c.54A>T c.(52-54)aaA>aaT p.K18N LEKR1_ENST00000356539.4_Missense_Mutation_p.K322N D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 38 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AGATATATAAAGCATTACAGG 0.338000 44 68 0 0 0.000509022 0 0 GABRG1 2565 broad.mit.edu 37 4 46053484 46053484 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:46053484C>T ENST00000295452.4 - 8 1255 c.1088G>A c.(1087-1089)gGa>gAa p.G363E NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 363 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AGCAGTCTTTCCTTTTTGGTT 0.328000 7 10 0 0 0.00198382 0 0 PRPF4B 8899 broad.mit.edu 37 6 4041016 4041016 + Missense_Mutation SNP C C T rs143126415 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:4041016C>T ENST00000337659.6 + 4 1523 c.1423C>T c.(1423-1425)Cgg>Tgg p.R475W PRPF4B_ENST00000538861.1_Missense_Mutation_p.R461W NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 475 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) GGACAGAGGTCGGAGGAGCAG 0.438000 19 90 0 0 0.00152264 0 0 RBMX 27316 broad.mit.edu 37 X 135956521 135956521 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:135956521C>T ENST00000320676.7 - 9 1110 c.956G>A c.(955-957)gGa>gAa p.G319E RBMX_ENST00000565438.1_Missense_Mutation_p.G191E|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Missense_Mutation_p.G184E|RBMX_ENST00000562646.1_3'UTR NM_002139.3 NP_002130.2 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 319 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TCCACCATATCCGTCACGTGA 0.542000 19 66 0 0 0.00127121 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46057967 46057967 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:46057967C>T ENST00000536708.2 + 12 1270 c.1161C>T c.(1159-1161)atC>atT p.I387I CDK5RAP3_ENST00000338399.4_Silent_p.I362I|CDK5RAP3_ENST00000578663.1_3'UTR|RP11-6N17.10_ENST00000578239.1_RNA NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 362 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 AGCTTGAGATCTTCTTAGCCC 0.547000 65 175 0 0 0.000781405 0 0 SNAPC2 6618 broad.mit.edu 37 19 7987171 7987171 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:7987171G>A ENST00000221573.6 + 4 675 c.624G>A c.(622-624)aaG>aaA p.K208K SNAPC2_ENST00000597584.1_5'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 208 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 ACTTTGAGAAGATCTACAAGT 0.592000 27 64 0 0 0.00178596 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22969277 22969277 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:22969277C>T ENST00000356864.3 + 2 637 c.105C>T c.(103-105)ccC>ccT p.P35P TNFRSF10C_ENST00000540813.1_Intron|TNFRSF10C_ENST00000520607.1_3'UTR NM_003841.3 NP_003832.2 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 35 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) AGGAAGTTCCCCAGCAGACAG 0.532000 8 15 0 0 0.000978159 0 0 ZNF701 55762 broad.mit.edu 37 19 53085749 53085749 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:53085749C>T ENST00000540331.1 + 5 860 c.635C>T c.(634-636)tCg>tTg p.S212L ZNF701_ENST00000391785.3_Missense_Mutation_p.S146L|ZNF701_ENST00000301093.2_Missense_Mutation_p.S212L|CTD-3099C6.7_ENST00000599222.1_RNA NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) AGCTTTCATTCGCATCTGCCT 0.408000 24 122 0 0 0.00106085 0 0 FSIP2 401024 broad.mit.edu 37 2 186673333 186673333 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:186673333G>A ENST00000343098.5 + 17 19567 c.19567G>A c.(19567-19569)Gga>Aga p.G6523R FSIP2_ENST00000424728.1_Missense_Mutation_p.G6434R NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GCAACAATCAGGAACCAACAA 0.313000 36 31 0 0 0.000692331 0 0 CCDC158 339965 broad.mit.edu 37 4 77305440 77305440 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:77305440C>T ENST00000388914.3 - 5 679 c.527G>A c.(526-528)cGa>cAa p.R176Q CCDC158_ENST00000434846.2_Missense_Mutation_p.R176Q NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 176 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CATCATTTTTCGTAGTTGCTC 0.398000 39 43 0 0 0.000509022 0 0 RYR3 6263 broad.mit.edu 37 15 34130518 34130518 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34130518G>A ENST00000389232.4 + 89 12407 c.12337G>A c.(12337-12339)Gag>Aag p.E4113K RYR3_ENST00000415757.3_Missense_Mutation_p.E4108K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4113 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGGCCAGAAGAGGAGGAAGA 0.473000 92 83 0 0 0.000781405 0 0 BHMT2 23743 broad.mit.edu 37 5 78379596 78379596 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:78379596G>A ENST00000255192.3 + 7 993 c.927G>A c.(925-927)agG>agA p.R309R BHMT2_ENST00000521567.1_Silent_p.R245R|DMGDH_ENST00000520388.1_Intron NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 309 methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) CCCCAGAAAGGGGCTTTTTGC 0.527000 21 25 0 0 0.00188189 0 0 IFNAR2 3455 broad.mit.edu 37 21 34635104 34635104 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:34635104C>T ENST00000342136.4 + 9 1173 c.847C>T c.(847-849)Cat>Tat p.H283Y IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S167L|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S239L|IFNAR2_ENST00000382241.3_Missense_Mutation_p.H283Y P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 283 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TAAGAATTTTCATAACTTTTT 0.373000 36 50 0 0 0.00148497 0 0 MYH11 4629 broad.mit.edu 37 16 15815296 15815296 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:15815296C>T ENST00000338282.6 - 32 4667 c.4561G>A c.(4561-4563)Gat>Aat p.D1521N MYH11_ENST00000576790.1_Missense_Mutation_p.D1521N|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.D1528N|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.D1528N|MYH11_ENST00000300036.5_Missense_Mutation_p.D1521N|NDE1_ENST00000342673.5_Intron NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1521 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CCCACGTCATCCTTGGAGCTG 0.557000 T CBFB AML 35 26 0 0 0.00111076 0 0 ZNF496 84838 broad.mit.edu 37 1 247464520 247464520 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:247464520G>A ENST00000294753.4 - 9 1529 c.1065C>T c.(1063-1065)atC>atT p.I355I ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.I391I NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 355 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) TGGAGAGAACGATCTCGATGG 0.627000 18 78 0 0 0.00121646 0 0 ZFHX3 463 broad.mit.edu 37 16 72829102 72829102 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:72829102G>A ENST00000268489.5 - 9 8151 c.7479C>T c.(7477-7479)ccC>ccT p.P2493P ZFHX3_ENST00000397992.5_Silent_p.P1579P NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2493 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACTGGGGTAAGGGGCACTGTG 0.637000 40 22 0 0 0.00222228 0 0 CR1L 1379 broad.mit.edu 37 1 207867858 207867858 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:207867858C>T ENST00000508064.2 + 5 684 c.624C>T c.(622-624)acC>acT p.T208T CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 208 Sushi 3. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TATACTGCACCAGCAAAGATG 0.468000 53 143 0 0 0.000781405 0 0 PLD5 200150 broad.mit.edu 37 1 242271141 242271141 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:242271141C>T ENST00000442594.2 - 9 1304 c.794_splice c.e9-1 p.R265_splice PLD5_ENST00000536534.1_Splice_Site_p.R357_splice|PLD5_ENST00000427495.1_Splice_Site_p.R295_splice NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 357 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GCCAGTAAGTCCTGCAGAAAT 0.353000 63 43 0 0 0.000781405 0 0 TESK2 10420 broad.mit.edu 37 1 45810872 45810872 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:45810872G>A ENST00000372086.3 - 11 1756 c.1356C>T c.(1354-1356)cgC>cgT p.R452R TESK2_ENST00000341771.6_Silent_p.R423R|TESK2_ENST00000538496.1_Silent_p.R369R|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.R423R NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 452 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) AACGCCACCGGCGAATAGGTG 0.607000 68 23 0 0 0.000781405 0 0 ADH1C 126 broad.mit.edu 37 4 100273819 100273819 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:100273819C>T ENST00000510055.1 - 0 68 ADH1C_ENST00000515683.1_RNA P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GCTTACTTTTCCTGCTGTGCT 0.313000 27 42 0 0 0.0024448 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413991 105413991 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:105413991C>T ENST00000333244.5 - 7 7916 c.7797G>A c.(7795-7797)aaG>aaA p.K2599K AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2599 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCACTTCCGCCTTGGGGCCTT 0.622000 107 73 0 0 0.000781405 0 0 SAMD4A 23034 broad.mit.edu 37 14 55251268 55251268 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:55251268C>T ENST00000251091.5 + 10 2099 c.1794C>T c.(1792-1794)ccC>ccT p.P598P SAMD4A_ENST00000555192.1_Silent_p.P313P|SAMD4A_ENST00000554335.1_Silent_p.P686P|SAMD4A_ENST00000392067.3_Silent_p.P686P|SAMD4A_ENST00000357634.3_Silent_p.P685P NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 686 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 TCCAGCTTCCCGTGACCGAAC 0.542000 35 69 0 0 0.00170553 0 0 KRT2 3849 broad.mit.edu 37 12 53038892 53038892 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:53038892C>T ENST00000309680.3 - 9 1852 c.1831G>A c.(1831-1833)Gga>Aga p.G611R NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 611 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) GAGCCATATCCTCCTCCAGAG 0.542000 27 79 0 0 0.000720815 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787254 121787254 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:121787254G>A ENST00000261367.7 + 12 4281 c.2853G>A c.(2851-2853)aaG>aaA p.K951K SNCAIP_ENST00000379536.2_Silent_p.K844K|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.K506K|SNCAIP_ENST00000542191.1_Silent_p.K462K|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.K904K|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.K538K|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.K951K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 904 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAGATGCCAAGGGAAACCCTG 0.423000 44 45 0 0 0.000781405 0 0 OR4B1 119765 broad.mit.edu 37 11 48239290 48239290 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:48239290G>A ENST00000309562.2 + 1 947 c.929G>A c.(928-930)tGa>tAa p.*310* NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.*310*(1) breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGGAGGGAGTGAAAAAAGAGC 0.398000 18 11 0 0 0.000958276 0 0 PGR 5241 broad.mit.edu 37 11 100999145 100999145 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:100999145C>T ENST00000325455.5 - 1 2110 c.657G>A c.(655-657)gtG>gtA p.V219V PGR_ENST00000263463.5_Silent_p.V219V|PGR_ENST00000534013.1_Intron NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 219 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CCTCAACCTCCACCGCAGCGG 0.711000 13 2 0 0 0.000308642 0 0 ADSS 159 broad.mit.edu 37 1 244587324 244587324 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:244587324G>A ENST00000366535.3 - 6 828 c.512C>T c.(511-513)tCg>tTg p.S171L ADSS_ENST00000462358.1_5'UTR NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 171 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) AGCTTTGGACGAATAAACTGG 0.423000 24 14 0 0 0.000720815 0 0 GLIS1 148979 broad.mit.edu 37 1 54060392 54060392 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:54060392G>A ENST00000312233.2 - 3 750 c.184C>T c.(184-186)Ctg>Ttg p.L62L NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 62 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CACCGCTTCAGGCTGCCCTCG 0.697000 18 14 0 0 0.00152264 0 0 F2RL1 2150 broad.mit.edu 37 5 76128963 76128963 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:76128963C>T ENST00000296677.4 + 2 737 c.531C>T c.(529-531)atC>atT p.I177I NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 177 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) ATTGGGTCATCGTGAACCCCA 0.483000 255 352 0 0 0.000781405 0 0 DGCR2 9993 broad.mit.edu 37 22 19052576 19052576 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:19052576G>A ENST00000263196.7 - 4 580 c.333C>T c.(331-333)ttC>ttT p.F111F DGCR2_ENST00000473832.1_Intron|DGCR2_ENST00000545799.1_Intron|DGCR2_ENST00000537045.1_Silent_p.F70F NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 111 cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) ACTTCCCTAGGAAACATAAAG 0.547000 6 24 0 0 0.00116845 0 0 CUX1 1523 broad.mit.edu 37 7 101844695 101844695 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:101844695C>T ENST00000360264.3 + 18 2171 c.2151C>T c.(2149-2151)atC>atT p.I717I CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Silent_p.I650I|CUX1_ENST00000556210.1_Silent_p.I548I|CUX1_ENST00000546411.2_Silent_p.I604I|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Silent_p.I684I|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Silent_p.I706I NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 706 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 ATGACGCCATCCGCTCCATCC 0.657000 39 125 0 0 0.00148497 0 0 MTHFD1 4522 broad.mit.edu 37 14 64898303 64898303 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:64898303C>T ENST00000555709.1 + 14 1752 c.1365C>T c.(1363-1365)ctC>ctT p.L455L CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Silent_p.L435L|MTHFD1_ENST00000216605.7_Silent_p.L511L|MTHFD1_ENST00000545908.1_Silent_p.L511L NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 455 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CTAATAACCTCGTTGCTGCGG 0.468000 32 22 0 0 0.000814825 0 0 GPX6 257202 broad.mit.edu 37 6 28474150 28474150 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28474150G>A ENST00000361902.1 - 3 347 c.298C>T c.(298-300)Ccc>Tcc p.P100S GPX6_ENST00000474923.1_Missense_Mutation_p.P100S|GPX6_ENST00000483058.1_5'UTR NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 100 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) TGGTTGCAGGGAAAGGCCAAC 0.498000 39 50 0 0 0.00148497 0 0 SCAMP3 10067 broad.mit.edu 37 1 155230384 155230384 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:155230384G>A ENST00000355379.3 - 2 411 c.133C>T c.(133-135)Ccc>Tcc p.P45S SCAMP3_ENST00000302631.3_Missense_Mutation_p.P71S NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 71 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TTTCTCGAGGGCTGCAAGGAG 0.582000 35 82 0 0 0.00148497 0 0 LIN9 286826 broad.mit.edu 37 1 226420283 226420283 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:226420283G>A ENST00000328205.5 - 15 2141 c.1596C>T c.(1594-1596)atC>atT p.I532I LIN9_ENST00000366801.1_Silent_p.I481I NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 516 cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GTGCAACATGGATTTCTACAT 0.323000 15 52 0 0 0.00074312 0 0 DCN 1634 broad.mit.edu 37 12 91539904 91539904 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:91539904C>T ENST00000052754.5 - 8 1512 c.1011G>A c.(1009-1011)tgG>tgA p.W337* DCN_ENST00000303320.3_Nonsense_Mutation_p.W150*|DCN_ENST00000547568.2_Nonsense_Mutation_p.W190*|DCN_ENST00000552962.1_Nonsense_Mutation_p.W337*|DCN_ENST00000393155.1_Nonsense_Mutation_p.W337*|DCN_ENST00000441303.2_Nonsense_Mutation_p.W150*|DCN_ENST00000228329.5_Nonsense_Mutation_p.W228*|DCN_ENST00000420120.2_Nonsense_Mutation_p.W228*|DCN_ENST00000425043.1_Nonsense_Mutation_p.W190* NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 337 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 GCTGTATCTCCCAGTACTGGA 0.463000 28 59 0 0 0.0024448 0 0 IQCE 23288 broad.mit.edu 37 7 2638195 2638195 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:2638195C>T ENST00000402050.2 + 17 1721 c.1537C>T c.(1537-1539)Ccc>Tcc p.P513S IQCE_ENST00000438376.2_Missense_Mutation_p.P497S|IQCE_ENST00000404984.1_Missense_Mutation_p.P462S|IQCE_ENST00000325979.7_Missense_Mutation_p.P448S NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 513 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GCCCCGCTCCCCCTGCTCTGA 0.706000 35 35 0 0 0.000491102 0 0 SLC4A4 8671 broad.mit.edu 37 4 72306347 72306347 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:72306347C>T ENST00000340595.3 + 5 886 c.690C>T c.(688-690)ttC>ttT p.F230F SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.F274F|SLC4A4_ENST00000512686.1_Silent_p.F230F|SLC4A4_ENST00000351898.6_Silent_p.F274F|SLC4A4_ENST00000425175.1_Silent_p.F274F NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 274 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGAATAAGTTCATGAAAAAAT 0.418000 26 46 0 0 0.00106085 0 0 LRFN2 57497 broad.mit.edu 37 6 40360041 40360041 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:40360041C>T ENST00000338305.6 - 3 2553 c.2011G>A c.(2011-2013)Gag>Aag p.E671K NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 671 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCAGCTCCTCCTTTCTCTGA 0.726000 9 19 0 0 0.000442599 0 0 MALL 7851 broad.mit.edu 37 2 110849340 110849340 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:110849340C>T ENST00000272462.2 - 2 886 c.113G>A c.(112-114)gGg>gAg p.G38E MALL_ENST00000427178.1_Intron NM_005434.4 NP_005425.1 Q13021 MALL_HUMAN mal, T-cell differentiation protein-like 38 MARVEL. cholesterol homeostasis clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane protein binding kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 9 Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18) GACCAAGAACCCAAATATCTG 0.463000 17 67 0 0 0.000720815 0 0 EXOC4 60412 broad.mit.edu 37 7 133002041 133002041 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:133002041C>T ENST00000253861.4 + 5 689 c.660C>T c.(658-660)tcC>tcT p.S220S EXOC4_ENST00000393161.2_Silent_p.S220S|EXOC4_ENST00000539845.1_Silent_p.S119S NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 220 S -> F (in a colorectal cancer sample; somatic mutation). vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CGTTCAGCTCCCTCGTGAAAG 0.438000 31 162 0 0 0.00178596 0 0 MUC17 140453 broad.mit.edu 37 7 100676940 100676940 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100676940C>T ENST00000306151.4 + 3 2307 c.2243C>T c.(2242-2244)cCa>cTa p.P748L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 748 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGAAGCACTCCATTAACAAGT 0.488000 85 337 0 0 0.000781405 0 0 MKX 283078 broad.mit.edu 37 10 28023391 28023391 + Missense_Mutation SNP G G A rs138096382 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:28023391G>A ENST00000375790.5 - 5 1264 c.832C>T c.(832-834)Cgc>Tgc p.R278C MKX_ENST00000419761.1_Missense_Mutation_p.R278C Q8IYA7 MKX_HUMAN mohawk homeobox 278 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TTACCTGTGCGATAGACAAAG 0.393000 41 22 0 0 0.000509022 0 0 SLC17A6 57084 broad.mit.edu 37 11 22399270 22399270 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:22399270G>A ENST00000263160.3 + 12 2170 c.1733G>A c.(1732-1734)cGa>cAa p.R578Q NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 578 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TATAAGGACCGAGTTGATTAT 0.353000 10 16 0 0 0.000673444 0 0 GRIN3B 116444 broad.mit.edu 37 19 1005144 1005144 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:1005144C>T ENST00000234389.3 + 3 1663 c.1644C>T c.(1642-1644)ttC>ttT p.F548F GRIN3B_ENST00000588335.1_3'UTR NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 548 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCAGCCCCTTCTTCTCCACCA 0.672000 17 38 0 0 0.000958276 0 0 WRAP53 55135 broad.mit.edu 37 17 7605064 7605064 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:7605064C>T ENST00000316024.5 + 6 3260 c.912C>T c.(910-912)tcC>tcT p.S304S WRAP53_ENST00000431639.2_Silent_p.S304S|WRAP53_ENST00000534050.1_Silent_p.S271S|WRAP53_ENST00000457584.2_Silent_p.S304S|WRAP53_ENST00000396463.2_Silent_p.S304S Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 304 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 GTGTTTTTTCCACGGCCCGGC 0.627000 53 6 0 0 0.000781405 0 0 FCRL5 83416 broad.mit.edu 37 1 157514299 157514299 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:157514299G>A ENST00000361835.3 - 5 754 c.597C>T c.(595-597)ttC>ttT p.F199F FCRL5_ENST00000356953.4_Silent_p.F199F|FCRL5_ENST00000368190.3_Silent_p.F199F|FCRL5_ENST00000368189.3_Silent_p.F199F|FCRL5_ENST00000368191.3_Silent_p.F114F NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 199 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TGATGGGCTGGAAGGAGCTGG 0.552000 67 37 0 0 0.000781405 0 0 HSPA9 3313 broad.mit.edu 37 5 137893590 137893590 + Missense_Mutation SNP G G C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:137893590G>C ENST00000297185.3 - 13 1726 c.1601C>G c.(1600-1602)gCt>gGt p.A534G HSPA9_ENST00000501917.2_Intron NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 534 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTTATCTTTAGCAGAAACATG 0.428000 20 74 0 0 0.00121646 0 0 SLC22A1 6580 broad.mit.edu 37 6 160575853 160575853 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:160575853C>T ENST00000366963.4 + 9 1556 c.1409C>T c.(1408-1410)tCc>tTc p.S470F SLC22A1_ENST00000457470.2_Intron|SLC22A1_ENST00000324965.4_Intron NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 470 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) ATGGTGTGTTCCTCCCTGTGT 0.428000 28 7 0 0 0.00209593 0 0 TCHH 7062 broad.mit.edu 37 1 152080064 152080064 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:152080064C>T ENST00000368804.1 - 2 5628 c.5629G>A c.(5629-5631)Gaa>Aaa p.E1877K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1877 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AATTTCCTTTCCCGTTCCTGG 0.567000 32 71 0 0 0.000692331 0 0 APOL5 80831 broad.mit.edu 37 22 36116701 36116701 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:36116701C>T ENST00000249044.2 + 2 142 c.142_splice c.e2+1 p.P48_splice NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 48 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 acctgagttccgtgagggcag 0.498000 22 25 0 0 0.00188189 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6084289 6084289 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:6084289G>A ENST00000199389.6 - 7 780 c.634C>T c.(634-636)Cta>Tta p.L212L EIF2AK1_ENST00000536084.1_Silent_p.L88L|EIF2AK1_ENST00000495565.1_5'UTR NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 212 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) ACTTCCCGTAGGACCTAGAAA 0.443000 30 37 0 0 0.00209593 0 0 MRPS18A 55168 broad.mit.edu 37 6 43639617 43639617 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43639617G>A ENST00000372133.3 - 6 484 c.473C>T c.(472-474)tCc>tTc p.S158F MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR|RSPH9_ENST00000372165.4_3'UTR NM_018135.3 NP_060605.1 Q9NVS2 RT18A_HUMAN mitochondrial ribosomal protein S18A 158 translation mitochondrial small ribosomal subunit structural constituent of ribosome kidney(3)|large_intestine(1) 4 all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137) GGGCTTGACGGAGCCAGGAGC 0.617000 11 14 0 0 0.000978159 0 0 ZAN 7455 broad.mit.edu 37 7 100391482 100391482 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100391482G>A ENST00000542585.1 + 0 8038 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGAGCTGTATGACACCCTGCC 0.632000 22 97 0 0 0.000586117 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370262 35370262 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:35370262C>T ENST00000373347.1 - 3 991 c.723G>A c.(721-723)agG>agA p.R241R DLGAP3_ENST00000235180.4_Silent_p.R241R O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 241 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TGCTCTTGCTCCTCTTGCCGT 0.647000 79 34 0 0 0.000781405 0 0 KIAA1958 158405 broad.mit.edu 37 9 115421780 115421780 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:115421780C>T ENST00000337530.6 + 4 1878 c.1582C>T c.(1582-1584)Cgc>Tgc p.R528C KIAA1958_ENST00000536272.1_Missense_Mutation_p.R556C NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 528 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 CGCGCGTTCTCGCAACATCGT 0.572000 12 2 0 0 0.000219431 0 0 PRX 57716 broad.mit.edu 37 19 40901361 40901361 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:40901361G>A ENST00000324001.7 - 7 3168 c.2898C>T c.(2896-2898)ctC>ctT p.L966L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 966 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGCCTTGGGGAGTGAGATGG 0.622000 25 43 0 0 0.000586117 0 0 MLC1 23209 broad.mit.edu 37 22 50506907 50506907 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:50506907G>A ENST00000311597.5 - 10 1455 c.849C>T c.(847-849)atC>atT p.I283I MLC1_ENST00000450140.2_Silent_p.I231I|MLC1_ENST00000538737.1_Silent_p.I249I|MLC1_ENST00000535444.1_Silent_p.I204I|MLC1_ENST00000395876.2_Silent_p.I283I|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Silent_p.I253I NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 283 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CGATTCTCATGATGCTGAATG 0.502000 109 100 0 0 0.000781405 0 0 TANGO6 79613 broad.mit.edu 37 16 68934380 68934380 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:68934380C>T ENST00000261778.1 + 8 1433 c.1421C>T c.(1420-1422)tCc>tTc p.S474F NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) TTGATGGATTCCCTGCTTCCA 0.428000 82 41 0 0 0.000781405 0 0 IGLL5 100423062 broad.mit.edu 37 22 23235906 23235906 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:23235906G>A ENST00000532223.1 + 2 510 c.236G>A c.(235-237)aGa>aAa p.R79K IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000531372.1_Intron|IGLL5_ENST00000526893.1_Missense_Mutation_p.R78K B9A064 IGLL5_HUMAN immunoglobulin lambda-like polypeptide 5 78 extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1) 7 AGCCCCCAGAGAGCAGACCCC 0.652000 9 7 0 0 0.000978159 0 0 OR5T3 390154 broad.mit.edu 37 11 56020467 56020467 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:56020467G>A ENST00000303059.3 + 1 792 c.792G>A c.(790-792)agG>agA p.R264R NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) CTAAGGGAAGGCAAAAGGCCT 0.413000 75 93 0 0 0.000781405 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24257714 24257714 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:24257714G>A ENST00000538205.1 + 12 1353 c.806G>A c.(805-807)gGa>gAa p.G269E ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G348E|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G269E NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 348 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GCTCTTGTAGGAGTGATGTCA 0.373000 15 9 0 0 0.000308642 0 0 PLCH1 23007 broad.mit.edu 37 3 155203476 155203476 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:155203476C>T ENST00000460012.1 - 22 2910 c.2553G>A c.(2551-2553)aaG>aaA p.K851K PLCH1_ENST00000494598.1_Silent_p.K869K|PLCH1_ENST00000414191.1_Silent_p.K851K|PLCH1_ENST00000447496.2_Silent_p.K889K|PLCH1_ENST00000340059.7_Silent_p.K889K|PLCH1_ENST00000334686.6_Silent_p.K851K Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 889 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGAACAGTCCCTTCAGACCCT 0.433000 19 17 0 0 0.00188189 0 0 MGAM 8972 broad.mit.edu 37 7 141754673 141754673 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:141754673G>A ENST00000475668.2 + 27 3333 c.3279G>A c.(3277-3279)ggG>ggA p.G1093G MGAM_ENST00000549489.2_Silent_p.G1093G O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1093 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATCCATTTGGGATTGAAATTC 0.493000 21 107 0 0 0.00152264 0 0 CENPB 1059 broad.mit.edu 37 20 3765728 3765728 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3765728G>A ENST00000379751.4 - 1 1609 c.1403C>T c.(1402-1404)tCg>tTg p.S468L NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 468 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 CAAGCCCTCCGAGGAGCTCTC 0.612000 15 19 0 0 0.000958276 0 0 OR10H1 26539 broad.mit.edu 37 19 15918208 15918208 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:15918208G>A ENST00000334920.2 - 1 728 c.640C>T c.(640-642)Ctc>Ttc p.L214F NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L214F(1) cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 AGGAGGATGAGGAGAAAACAG 0.577000 17 40 0 0 0.000720815 0 0 CHRM2 1129 broad.mit.edu 37 7 136700447 136700447 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:136700447G>A ENST00000445907.2 + 3 1363 c.835G>A c.(835-837)Gag>Aag p.E279K CHRM2_ENST00000397608.3_Missense_Mutation_p.E279K|CHRM2_ENST00000401861.1_Missense_Mutation_p.E279K|CHRM2_ENST00000402486.3_Missense_Mutation_p.E279K|CHRM2_ENST00000320658.5_Missense_Mutation_p.E279K|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.E279K|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 279 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCAGGGAGAGGAGAAGGAGAG 0.488000 18 57 0 0 0.000958276 0 0 TLE2 7089 broad.mit.edu 37 19 3009539 3009539 + Splice_Site SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3009539C>T ENST00000262953.6 - 13 1436 c.e13+1 TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Splice_Site|TLE2_ENST00000447365.2_Splice_Site|TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000443826.3_Splice_Site NM_003260.4 NP_003251.2 Q04725 TLE2_HUMAN transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGGACTCACCACGGGGGAG 0.652000 5 17 0 0 0.00198382 0 0 RABL3 285282 broad.mit.edu 37 3 120424922 120424922 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:120424922G>A ENST00000273375.3 - 4 337 c.308C>T c.(307-309)tCc>tTc p.S103F RABL3_ENST00000483733.1_Missense_Mutation_p.S103F|RABL3_ENST00000491398.1_5'UTR NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 103 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) CAAGTTTTGGGAGGACTTCTT 0.388000 61 61 0 0 0.000781405 0 0 OR10A7 121364 broad.mit.edu 37 12 55615186 55615186 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:55615186C>T ENST00000326258.1 + 1 378 c.378C>T c.(376-378)atC>atT p.I126I NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TTGTGGCCATCTGTAACCCTC 0.463000 25 55 0 0 0.000375601 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3643366 3643366 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3643366G>A ENST00000335312.3 - 13 1612 c.1524C>T c.(1522-1524)ctC>ctT p.L508L PIP5K1C_ENST00000589578.1_Silent_p.L508L|PIP5K1C_ENST00000539785.1_Silent_p.L508L|PIP5K1C_ENST00000537021.1_Silent_p.L508L NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 508 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TGCAGGGCAGGAGGTCGGGCC 0.637000 41 83 0 0 0.000589545 0 0 TECTA 7007 broad.mit.edu 37 11 121039497 121039497 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:121039497G>A ENST00000392793.1 + 20 6133 c.5862G>A c.(5860-5862)acG>acA p.T1954T TECTA_ENST00000264037.2_Silent_p.T1954T O75443 TECTA_HUMAN tectorin alpha 1954 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.T1954T(1) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TAGTGTTGACGACTCGAGATG 0.483000 66 14 0 0 0.000781405 0 0 PIANP 196500 broad.mit.edu 37 12 6806591 6806591 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:6806591C>T ENST00000534837.1 - 3 614 c.385G>A c.(385-387)Gac>Aac p.D129N PIANP_ENST00000320591.5_Missense_Mutation_p.D129N|PIANP_ENST00000540656.1_Missense_Mutation_p.D129N NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein AAACCATAGTCCAGAAATCCG 0.612000 14 33 0 0 0.000566183 0 0 COLGALT2 23127 broad.mit.edu 37 1 183914630 183914630 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:183914630G>A ENST00000361927.4 - 9 1576 c.1205C>T c.(1204-1206)tCc>tTc p.S402F COLGALT2_ENST00000367520.3_Missense_Mutation_p.S139F|COLGALT2_ENST00000367521.1_Missense_Mutation_p.S10F|COLGALT2_ENST00000546159.1_Missense_Mutation_p.S402F NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 AGGCCTGGAGGAATAGGGATC 0.448000 50 107 0 0 0.000781405 0 0 HEPHL1 341208 broad.mit.edu 37 11 93836140 93836140 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:93836140C>T ENST00000315765.9 + 15 2644 c.2636C>T c.(2635-2637)cCc>cTc p.P879L NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 879 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CCTTCTGATCCCAATTGTATT 0.333000 24 4 0 0 0.000878237 0 0 OR4D2 124538 broad.mit.edu 37 17 56247838 56247838 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:56247838C>T ENST00000545221.1 + 1 822 c.822C>T c.(820-822)ggC>ggT p.G274G NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TGTCCATCGGCCACACAGTCA 0.532000 73 50 0 0 0.000781405 0 0 SMO 6608 broad.mit.edu 37 7 128845484 128845484 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:128845484C>T ENST00000249373.3 + 4 1061 c.781C>T c.(781-783)Cgc>Tgc p.R261C NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 261 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GAACTCGAATCGCTACCCTGC 0.537000 Mis skin basal cell 57 118 0 0 0.000781405 0 0 C10orf90 118611 broad.mit.edu 37 10 128114453 128114453 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:128114453G>A ENST00000284694.7 - 9 2200 c.2080C>T c.(2080-2082)Ctt>Ttt p.L694F C10orf90_ENST00000356858.3_3'UTR|C10orf90_ENST00000480379.1_Missense_Mutation_p.L98F|C10orf90_ENST00000544758.1_Missense_Mutation_p.L791F|C10orf90_ENST00000454341.1_Missense_Mutation_p.L597F NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 694 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TTCCTTTGAAGGAGCTGGTCC 0.498000 17 2 0 0 0.000958276 0 0 OR14J1 442191 broad.mit.edu 37 6 29275415 29275415 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29275415G>A ENST00000377160.2 + 1 1013 c.949G>A c.(949-951)Gcc>Acc p.A317T NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 gtgcttaaaagccatgtttaa 0.388000 25 38 0 0 0.000878237 0 0 MRPL21 219927 broad.mit.edu 37 11 68658812 68658812 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:68658812G>A ENST00000362034.2 - 7 614 c.605C>T c.(604-606)cCg>cTg p.P202L MRPL21_ENST00000450904.2_Missense_Mutation_p.P117L NM_181514.1|NM_181515.1 NP_852615.1|NP_852616.1 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 202 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome large_intestine(1)|lung(6)|prostate(1) 8 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAACAAACACGGAGCAATCTC 0.463000 65 149 0 0 0.000781405 0 0 CASP8 841 broad.mit.edu 37 2 202137459 202137459 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:202137459C>A ENST00000358485.4 + 4 883 c.687C>A c.(685-687)agC>agA p.S229R CASP8_ENST00000392266.3_Missense_Mutation_p.S170R|CASP8_ENST00000323492.7_Missense_Mutation_p.S170R|CASP8_ENST00000264275.5_Missense_Mutation_p.S202R|CASP8_ENST00000264274.9_Missense_Mutation_p.S170R|CASP8_ENST00000392259.2_Missense_Mutation_p.S170R|CASP8_ENST00000392258.3_Missense_Mutation_p.S170R|CASP8_ENST00000432109.2_Missense_Mutation_p.S170R NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 170 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TCAACAAGAGCCTGCTGAAGA 0.428000 HNSCC(4;0.00038) 32 164 1.836e-18 8.84521e-18 0.000692331 1 0 FMO1 2326 broad.mit.edu 37 1 171251243 171251243 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:171251243G>A ENST00000354841.4 + 6 1085 c.954G>A c.(952-954)aaG>aaA p.K318K FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.K318K|FMO1_ENST00000402921.2_Silent_p.K255K Q01740 FMO1_HUMAN flavin containing monooxygenase 1 318 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATACTTCAAAGGAAGAGCCTA 0.433000 25 55 0 0 0.00047179 0 0 ARAP3 64411 broad.mit.edu 37 5 141033693 141033693 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:141033693G>A ENST00000239440.4 - 33 4524 c.4459C>T c.(4459-4461)Cag>Tag p.Q1487* ARAP3_ENST00000513878.1_Nonsense_Mutation_p.Q1136*|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q1318*|ARAP3_ENST00000512390.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1487 Pro-rich. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CTGAGCTCCTGGAGCAGCTGT 0.657000 16 47 0 0 0.000566183 0 0 C2orf54 79919 broad.mit.edu 37 2 241826526 241826526 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:241826526G>A ENST00000307486.8 - 5 956 c.858C>T c.(856-858)atC>atT p.I286I C2orf54_ENST00000402775.2_Silent_p.I267I|C2orf54_ENST00000388934.4_Silent_p.I435I Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 435 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) TCTTCTGGAAGATGCTCTGCA 0.592000 33 22 0 0 0.00058488 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13923865 13923865 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:13923865C>T ENST00000254323.2 + 6 1256 c.1067C>T c.(1066-1068)gCa>gTa p.A356V ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A73V NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 356 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GAGGAAAGGGCAGGCTGGCTC 0.637000 23 21 0 0 0.00047179 0 0 SLC6A12 6539 broad.mit.edu 37 12 305416 305416 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:305416C>T ENST00000428720.1 - 12 1943 c.1200G>A c.(1198-1200)gtG>gtA p.V400V SLC6A12_ENST00000536824.1_Silent_p.V400V|SLC6A12_ENST00000359674.4_Silent_p.V400V|SLC6A12_ENST00000424061.2_Silent_p.V400V|SLC6A12_ENST00000397296.2_Silent_p.V400V NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 400 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) CCAGGCACTCCACACAGACAA 0.642000 16 6 0 0 0.000566183 0 0 LPCAT4 254531 broad.mit.edu 37 15 34651861 34651861 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:34651861G>A ENST00000314891.6 - 13 1505 c.1328C>T c.(1327-1329)tCa>tTa p.S443L NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 443 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 AGGGTGGGGTGAACCCAGCAG 0.602000 21 29 0 0 0.00121646 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202001 140202001 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140202001C>T ENST00000529859.1 + 1 641 c.641C>T c.(640-642)aCt>aTt p.T214I PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.T214I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T214I NM_018908.2 NP_061731.1 p.T214S(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGATTGCAACTGATGGAGGA 0.348000 57 35 0 0 0.000781405 0 0 RTF1 23168 broad.mit.edu 37 15 41750008 41750008 + Missense_Mutation SNP T T G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:41750008T>G ENST00000389629.4 + 4 608 c.596T>G c.(595-597)aTg>aGg p.M199R NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 199 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) CTGGAACAGATGACAGAGAAA 0.502000 61 89 0 0 0.000781405 0 0 DCC 1630 broad.mit.edu 37 18 51013171 51013171 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:51013171C>T ENST00000442544.2 + 26 4357 c.3741C>T c.(3739-3741)gtC>gtT p.V1247V RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.V882V NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1247 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTGCAGCTGTCGTGAGCGCCA 0.483000 31 57 0 0 0.00058488 0 0 C11orf24 53838 broad.mit.edu 37 11 68029501 68029501 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:68029501G>A ENST00000304271.6 - 4 1364 c.962C>T c.(961-963)tCc>tTc p.S321F C11orf24_ENST00000533310.1_Intron NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 321 Pro-rich. integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 TGTCGTGGGGGACATGGCCTC 0.637000 37 20 0 0 0.00128727 0 0 PTCH2 8643 broad.mit.edu 37 1 45288151 45288151 + Nonsense_Mutation SNP C C T rs56024410 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:45288151C>T ENST00000372192.3 - 22 3678 c.3548G>A c.(3547-3549)tGg>tAg p.W1183* PTCH2_ENST00000447098.2_Intron NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 1183 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGCAGGGGACCAAGGGGGCTC 0.632000 Basal Cell Nevus syndrome 12 52 0 0 0.000978159 0 0 BTN2A1 11120 broad.mit.edu 37 6 26465416 26465416 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:26465416C>T ENST00000429381.1 + 5 928 c.716C>T c.(715-717)tCc>tTc p.S239F BTN2A1_ENST00000312541.5_Missense_Mutation_p.S239F|BTN2A1_ENST00000541522.1_Missense_Mutation_p.S178F|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S239F Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 239 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 TTTTCAGAATCCTTTATGCCC 0.478000 49 68 0 0 0.000781405 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653000 46653000 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:46653000C>T ENST00000253255.5 - 1 6219 c.6220G>A c.(6220-6222)Gat>Aat p.D2074N NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2074 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AGGCGCACATCGTAGAAGAAT 0.463000 20 29 0 0 0.00188189 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307251 39307251 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:39307251C>T ENST00000541347.1 - 2 989 c.750G>A c.(748-750)atG>atA p.M250I CX3CR1_ENST00000542107.1_Missense_Mutation_p.M250I|CX3CR1_ENST00000358309.3_Missense_Mutation_p.M282I|CX3CR1_ENST00000399220.2_Missense_Mutation_p.M250I NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 250 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CCAGGAAAATCATAACGTTGT 0.468000 59 36 0 0 0.000781405 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36468529 36468529 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:36468529C>T ENST00000405275.2 + 13 1401 c.1158C>T c.(1156-1158)tcC>tcT p.S386S CTNNBL1_ENST00000373469.1_Silent_p.S161S|CTNNBL1_ENST00000361383.6_Silent_p.S413S|CTNNBL1_ENST00000373473.1_Silent_p.S226S|CTNNBL1_ENST00000473857.1_3'UTR Q8WYA6 CTBL1_HUMAN catenin, beta like 1 413 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TCCTGGCTTCCCTCCTGCGGA 0.502000 56 41 0 0 0.000781405 0 0 MYOM3 127294 broad.mit.edu 37 1 24388451 24388451 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:24388451C>T ENST00000330966.7 - 33 4090 c.3928G>A c.(3928-3930)Gat>Aat p.D1310N RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.D200N|MYOM3_ENST00000374434.3_Missense_Mutation_p.D1307N Q5VTT5 MYOM3_HUMAN myomesin 3 1307 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CCTGAGAGATCTGTTGAGAGC 0.527000 33 115 0 0 0.000692331 0 0 TBC1D17 79735 broad.mit.edu 37 19 50385371 50385371 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50385371C>T ENST00000221543.5 + 6 900 c.601C>T c.(601-603)Ctg>Ttg p.L201L TBC1D17_ENST00000535102.2_Silent_p.L168L NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 201 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CTTCCACCACCTGCAGCTCTT 0.657000 48 276 0 0 0.000781405 0 0 VTCN1 79679 broad.mit.edu 37 1 117699533 117699533 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:117699533G>A ENST00000369458.3 - 3 186 c.108C>T c.(106-108)tcC>tcT p.S36S VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Silent_p.S39S NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 36 Ig-like V-type 1. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TGACTGTGATGGAGTGTCTCC 0.473000 11 38 0 0 0.000673444 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541351 40541351 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:40541351G>A ENST00000434248.1 - 5 1480 c.1415C>T c.(1414-1416)cCc>cTc p.P472L ZNF780B_ENST00000221355.6_Missense_Mutation_p.P324L NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 472 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACATTCAAAGGGTTTCCCACC 0.388000 27 27 0 0 0.00127121 0 0 SHB 6461 broad.mit.edu 37 9 37955894 37955894 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:37955894G>A ENST00000377707.3 - 4 1777 c.1212C>T c.(1210-1212)ccC>ccT p.P404P RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 404 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GCTTCTCCAGGGGGACGGCAG 0.527000 24 3 0 0 0.001512 0 0 THSD7B 80731 broad.mit.edu 37 2 137814638 137814638 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:137814638G>A ENST00000409968.1 + 3 966 c.788G>A c.(787-789)gGa>gAa p.G263E THSD7B_ENST00000543459.1_Missense_Mutation_p.G122E|THSD7B_ENST00000272643.3_Missense_Mutation_p.G263E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G232E thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATCCAAGCGGAAGAACTGTT 0.393000 65 101 0 0 0.000781405 0 0 ZNF502 91392 broad.mit.edu 37 3 44762592 44762592 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:44762592C>T ENST00000296091.4 + 4 539 c.283C>T c.(283-285)Cct>Tct p.P95S ZNF502_ENST00000449836.1_Missense_Mutation_p.P95S|ZNF502_ENST00000436624.2_Missense_Mutation_p.P95S NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) AGAAGCACCCCCTGAAATTAT 0.423000 17 40 0 0 0.000422831 0 0 TP53BP2 7159 broad.mit.edu 37 1 223991885 223991885 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:223991885C>T ENST00000391878.2 - 7 1021 c.253G>A c.(253-255)Ggg>Agg p.G85R TP53BP2_ENST00000343537.7_Missense_Mutation_p.G214R NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 208 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CCAAGTTTCCCATTGCTTAGT 0.383000 61 189 0 0 0.000781405 0 0 DBH 1621 broad.mit.edu 37 9 136505099 136505099 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:136505099G>A ENST00000393056.2 + 2 483 c.471G>A c.(469-471)aaG>aaA p.K157K NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 157 DOMON. hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCGACCCCAAGGATTACCTCA 0.587000 17 2 0 0 0.00152264 0 0 TTN 7273 broad.mit.edu 37 2 179590525 179590525 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:179590525C>T ENST00000589042.1 - 70 20748 c.20524G>A c.(20524-20526)Gat>Aat p.D6842N TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5598N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D6525N|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6525 Ig-like 50. 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) ACACAAGTATCACTTCCCACT 0.373000 42 79 0 0 0.000680045 0 0 OR10J5 127385 broad.mit.edu 37 1 159505776 159505776 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159505776C>T ENST00000334857.2 - 1 66 c.22G>A c.(22-24)Gaa>Aaa p.E8K NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) TCTGACACTTCTGTGAAGTTC 0.363000 10 47 0 0 0.000673444 0 0 RBM19 9904 broad.mit.edu 37 12 114395671 114395671 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:114395671G>A ENST00000545145.2 - 6 834 c.756C>T c.(754-756)gtC>gtT p.V252V RBM19_ENST00000261741.5_Silent_p.V252V|RBM19_ENST00000392561.3_Silent_p.V252V NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 252 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) TTTCCTGCAGGACTGGGGTGG 0.597000 53 49 0 0 0.000781405 0 0 TACO1 51204 broad.mit.edu 37 17 61685212 61685212 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:61685212C>T ENST00000258975.6 + 5 956 c.744C>T c.(742-744)tcC>tcT p.S248S NM_016360.3 NP_057444.2 Q9BSH4 TACO1_HUMAN translational activator of mitochondrially encoded cytochrome c oxidase I 248 regulation of translation mitochondrion breast(2)|endometrium(1)|lung(1) 4 AGCTGGACTCCCTGGGCCTGT 0.532000 78 5 0 0 0.000781405 0 0 COL6A6 131873 broad.mit.edu 37 3 130300434 130300434 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:130300434G>A ENST00000358511.6 + 8 3608 c.3577G>A c.(3577-3579)Gat>Aat p.D1193N COL6A6_ENST00000453409.2_Missense_Mutation_p.D1193N NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1193 Nonhelical region.|VWFA 7. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGTGGGATTTGATGTCTCAAC 0.438000 56 85 0 0 0.000781405 0 0 RORA 6095 broad.mit.edu 37 15 60806938 60806938 + Nonsense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:60806938G>A ENST00000335670.6 - 4 401 c.301C>T c.(301-303)Cag>Tag p.Q101* RORA_ENST00000309157.4_Nonsense_Mutation_p.Q126*|RORA_ENST00000261523.5_Nonsense_Mutation_p.Q134*|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Nonsense_Mutation_p.Q46*|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A 134 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 TTGCTTTGCTGACTTCTCCTG 0.428000 40 28 0 0 0.00222228 0 0 FKBP15 23307 broad.mit.edu 37 9 115940928 115940928 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:115940928C>T ENST00000238256.3 - 20 2185 c.2068G>A c.(2068-2070)Gtg>Atg p.V690M NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 690 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TTTGCCTGCACTTTGGTGAGC 0.463000 10 1 0 0 0.000978159 0 0 AOX1 316 broad.mit.edu 37 2 201473810 201473810 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:201473810C>T ENST00000374700.2 + 11 1252 c.1011C>T c.(1009-1011)ctC>ctT p.L337L NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 337 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACCATGCTCTCCTGAAGCATT 0.512000 33 28 0 0 0.000491102 0 0 ACSM5 54988 broad.mit.edu 37 16 20439149 20439149 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:20439149C>T ENST00000331849.4 + 7 1108 c.961C>T c.(961-963)Cca>Tca p.P321S NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 321 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 CTGCTGTGTCCCAACCATCTT 0.468000 90 65 0 0 0.000781405 0 0 GLI1 2735 broad.mit.edu 37 12 57865042 57865042 + Missense_Mutation SNP G G A rs138706434 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:57865042G>A ENST00000228682.2 + 12 2610 c.2519G>A c.(2518-2520)gGg>gAg p.G840E GLI1_ENST00000546141.1_Missense_Mutation_p.G799E|GLI1_ENST00000543426.1_Missense_Mutation_p.G712E NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 840 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CCCAGTGAGGGGCCCCCACAT 0.587000 30 27 0 0 0.000692331 0 0 KRT10 3858 broad.mit.edu 37 17 38975396 38975396 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:38975396C>A ENST00000269576.5 - 7 1400 c.1391G>T c.(1390-1392)cGc>cTc p.R464L TMEM99_ENST00000301665.3_5'UTR NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 464 Gly-rich.|Tail. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) tccgccgccgcgtccgccgcc 0.657000 7 6 2.0095e-06 9.59638e-06 0.00198382 1 0 OR13C5 138799 broad.mit.edu 37 9 107361417 107361417 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:107361417G>A ENST00000374779.2 - 1 371 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 GCCAGAAAGGGAAATGGTCTT 0.517000 14 2 0 0 0.000422831 0 0 PNCK 139728 broad.mit.edu 37 X 152936627 152936627 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:152936627G>A ENST00000393831.2 - 8 1136 c.702C>T c.(700-702)ccC>ccT p.P234P PNCK_ENST00000447676.2_Silent_p.P294P|PNCK_ENST00000340888.3_Silent_p.P211P|PNCK_ENST00000370142.1_Silent_p.P234P|PNCK_ENST00000370145.4_Silent_p.P228P|PNCK_ENST00000370150.1_Silent_p.P211P NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 211 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGTCGTAGAAGGGGGGGTACC 0.592000 16 4 0 0 0.000566183 0 0 SLC30A8 169026 broad.mit.edu 37 8 118165314 118165314 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:118165314G>A ENST00000427715.2 + 6 690 c.256G>A c.(256-258)Gga>Aga p.G86R SLC30A8_ENST00000519688.1_Missense_Mutation_p.G86R|SLC30A8_ENST00000521243.1_Missense_Mutation_p.G86R|SLC30A8_ENST00000456015.2_Missense_Mutation_p.G135R NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 135 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GCTGACATTTGGATGGCACCG 0.517000 108 252 0 0 0.000781405 0 0 RRP36 88745 broad.mit.edu 37 6 42992810 42992810 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:42992810G>A ENST00000244496.5 + 2 228 c.218G>A c.(217-219)aGt>aAt p.S73N NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 73 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 GCTGGAAATAGTCCTAAGAAA 0.453000 36 29 0 0 0.000692331 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316043 30316043 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:30316043C>A ENST00000375377.1 - 3 3135 c.3034G>T c.(3034-3036)Gtg>Ttg p.V1012L NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1012 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CTTGGTTTCACAGAGCTGAAA 0.562000 74 49 9.42754e-34 4.56873e-33 0.000781405 1 0 CCDC19 25790 broad.mit.edu 37 1 159860385 159860385 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:159860385G>A ENST00000368099.4 - 3 221 c.157C>T c.(157-159)Ccc>Tcc p.P53S CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR NM_012337.2 NP_036469.2 Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 53 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) AGCACAATGGGGCTGTCGCTC 0.527000 62 42 0 0 0.000781405 0 0 FAT3 120114 broad.mit.edu 37 11 92532464 92532464 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:92532464G>A ENST00000298047.6 + 9 6302 c.6285G>A c.(6283-6285)gtG>gtA p.V2095V FAT3_ENST00000409404.2_Silent_p.V2095V|FAT3_ENST00000525166.1_Silent_p.V1945V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2095 Cadherin 19. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGTTCAAGTGGATGCGGAAC 0.483000 TCGA Ovarian(4;0.039) 303 39 0 0 0.000781405 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168705 60168705 + Missense_Mutation SNP A A G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:60168705A>G ENST00000261187.4 + 4 793 c.629A>G c.(628-630)aAg>aGg p.K210R SLC16A7_ENST00000547379.1_Missense_Mutation_p.K210R|SLC16A7_ENST00000543448.1_Missense_Mutation_p.K111R|SLC16A7_ENST00000552432.1_Missense_Mutation_p.K210R|SLC16A7_ENST00000552024.1_Missense_Mutation_p.K210R NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 210 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TCTAAAAATAAGACTGGCAAA 0.378000 17 24 0 0 0.000422831 0 0 N4BP2 55728 broad.mit.edu 37 4 40104513 40104513 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:40104513C>T ENST00000261435.6 + 4 1464 c.1048C>T c.(1048-1050)Ctc>Ttc p.L350F NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 350 Pro-rich. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 ACTTGCTCCTCTCCCATTGCT 0.507000 14 38 0 0 0.000422831 0 0 EPG5 57724 broad.mit.edu 37 18 43445620 43445620 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:43445620C>T ENST00000282041.5 - 39 6760 c.6726G>A c.(6724-6726)atG>atA p.M2242I EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2242 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 AGAGCTTAGACATTTCCTGTT 0.438000 41 48 0 0 0.00148497 0 0 UNC119B 84747 broad.mit.edu 37 12 121151120 121151120 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121151120C>T ENST00000344651.4 + 2 328 c.288C>T c.(286-288)ttC>ttT p.F96F UNC119B_ENST00000539658.1_3'UTR NM_001080533.1 NP_001074002.1 A6NIH7 U119B_HUMAN unc-119 homolog B (C. elegans) 96 breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTATTGATTTCACCCGCTTCA 0.393000 146 288 0 0 0.000781405 0 0 SLC32A1 140679 broad.mit.edu 37 20 37353485 37353485 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:37353485G>A ENST00000217420.1 + 1 381 c.118G>A c.(118-120)Gag>Aag p.E40K NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 40 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CACGGATGAGGAGGCGGTGGG 0.637000 12 38 0 0 0.00136819 0 0 CPA5 93979 broad.mit.edu 37 7 129987662 129987662 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:129987662G>A ENST00000485477.1 + 3 1301 c.172G>A c.(172-174)Gat>Aat p.D58N CPA5_ENST00000431780.2_Missense_Mutation_p.D58N|CPA5_ENST00000393213.3_Missense_Mutation_p.D58N|CPA5_ENST00000355388.3_Missense_Mutation_p.D58N|CPA5_ENST00000461828.1_Missense_Mutation_p.D58N|CPA5_ENST00000466363.2_Missense_Mutation_p.D58N|CPA5_ENST00000474905.1_Missense_Mutation_p.D58N Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 58 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) ACTTCTCGGGGATCTGGAGGG 0.577000 9 38 0 0 0.00136819 0 0 HMCN1 83872 broad.mit.edu 37 1 186022088 186022088 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:186022088C>T ENST00000271588.4 + 43 6811 c.6582C>T c.(6580-6582)ccC>ccT p.P2194P HMCN1_ENST00000367492.2_Silent_p.P2194P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2194 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 TTCTAGTCCCCCCAAATATTG 0.338000 48 44 0 0 0.000781405 0 0 GPX6 257202 broad.mit.edu 37 6 28483515 28483515 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:28483515G>A ENST00000361902.1 - 1 55 c.6C>T c.(4-6)ttC>ttT p.F2F GPX6_ENST00000474923.1_Silent_p.F2F|GPX6_ENST00000483058.1_Intron NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 2 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) GGAACTGCTGGAACATGGCTA 0.537000 18 25 0 0 0.00121646 0 0 PCDH19 57526 broad.mit.edu 37 X 99551454 99551454 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:99551454G>A ENST00000373034.4 - 6 4943 c.3268C>T c.(3268-3270)Cca>Tca p.P1090S PCDH19_ENST00000420881.2_Missense_Mutation_p.P1042S|PCDH19_ENST00000255531.7_Missense_Mutation_p.P1043S NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 1090 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TCACGGGCTGGGGGAGCCAGG 0.577000 28 5 0 0 0.00106085 0 0 TRPS1 7227 broad.mit.edu 37 8 116631597 116631597 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:116631597C>T ENST00000395715.3 - 3 1305 c.728G>A c.(727-729)gGt>gAt p.G243D TRPS1_ENST00000520276.1_Missense_Mutation_p.G234D|TRPS1_ENST00000519674.1_Missense_Mutation_p.G230D|TRPS1_ENST00000220888.5_Missense_Mutation_p.G230D|TRPS1_ENST00000519076.1_Missense_Mutation_p.G184D NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 230 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GCCGTAGTAACCATATCCACA 0.468000 Langer-Giedion syndrome 55 138 0 0 0.000781405 0 0 MUC5B 727897 broad.mit.edu 37 11 1271018 1271018 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:1271018G>A ENST00000447027.1 + 31 12975 c.12917G>A c.(12916-12918)aGg>aAg p.R4306K MUC5B_ENST00000529681.1_Missense_Mutation_p.R4303K Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4303 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCAGTCCAAGGACTGCAACC 0.627000 40 55 0 0 0.00170553 0 0 WNK2 65268 broad.mit.edu 37 9 96055405 96055405 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:96055405G>A ENST00000297954.4 + 23 5769 c.5769G>A c.(5767-5769)tcG>tcA p.S1923S WNK2_ENST00000427277.2_Silent_p.S1498S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Silent_p.S248S|WNK2_ENST00000349097.3_Silent_p.S1535S|WNK2_ENST00000395477.2_Silent_p.S1886S Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1923 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 ACAATGATTCGGAGCTCGAGG 0.617000 18 0 0 0 0.00152264 0 0 SORCS3 22986 broad.mit.edu 37 10 106937871 106937871 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:106937871C>T ENST00000369701.3 + 14 2176 c.1949C>T c.(1948-1950)tCg>tTg p.S650L SORCS3_ENST00000369699.4_Intron NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 650 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGTTTCACTTCGGTTCCTCTC 0.473000 43 8 0 0 0.000781405 0 0 OPRL1 4987 broad.mit.edu 37 20 62729457 62729457 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:62729457C>T ENST00000349451.3 + 5 948 c.536C>T c.(535-537)tCt>tTt p.S179F OPRL1_ENST00000355631.4_Missense_Mutation_p.S179F|OPRL1_ENST00000336866.2_Missense_Mutation_p.S179F NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 179 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GCCCTGGCCTCTGTTGTCGGT 0.647000 20 68 0 0 0.00152264 0 0 TRPV3 162514 broad.mit.edu 37 17 3424292 3424292 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:3424292G>A ENST00000301365.4 - 14 1916 c.1785C>T c.(1783-1785)atC>atT p.I595I TRPV3_ENST00000576742.1_Silent_p.I595I|TRPV3_ENST00000572519.1_Silent_p.I595I Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 595 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) GCAAAAACACGATATATACAA 0.328000 123 6 0 0 0.000781405 0 0 PODN 127435 broad.mit.edu 37 1 53546448 53546448 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:53546448C>T ENST00000371500.3 + 11 1989 c.1648C>T c.(1648-1650)Ccc>Tcc p.P550S PODN_ENST00000312553.5_Missense_Mutation_p.P569S|PODN_ENST00000395871.2_Missense_Mutation_p.P427S|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 521 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGAGGGGCTCCCCGAGTCACT 0.582000 9 39 0 0 0.000274275 0 0 SLURP1 57152 broad.mit.edu 37 8 143822687 143822687 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:143822687G>A ENST00000246515.1 - 3 211 c.186C>T c.(184-186)ccC>ccT p.P62P NM_020427.2 NP_065160.1 P55000 SLUR1_HUMAN secreted LY6/PLAUR domain containing 1 62 UPAR/Ly6. cell activation|cell adhesion extracellular space cytokine activity breast(1)|lung(7)|ovary(1) 9 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCTGGTTGAAGGGGTACTCTG 0.682000 8 16 0 0 0.000157383 0 0 KLHL36 79786 broad.mit.edu 37 16 84695403 84695403 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:84695403C>T ENST00000564996.1 + 5 1656 c.1515C>T c.(1513-1515)atC>atT p.I505I KLHL36_ENST00000258157.5_Silent_p.I442I NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 505 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ATGACAACATCGAGTCCATGG 0.677000 7 25 0 0 0.000157383 0 0 AMER3 205147 broad.mit.edu 37 2 131520787 131520787 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:131520787C>T ENST00000423981.1 + 2 1252 c.1142C>T c.(1141-1143)tCc>tTc p.S381F AMER3_ENST00000321420.4_Missense_Mutation_p.S381F NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GAATCCGTGTCCACAAGTGAC 0.637000 16 20 0 0 0.000422831 0 0 KDM2B 84678 broad.mit.edu 37 12 121972449 121972449 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:121972449C>A ENST00000377069.4 - 7 1043 c.637G>T c.(637-639)Gac>Tac p.D213Y KDM2B_ENST00000377071.4_Missense_Mutation_p.D244Y|KDM2B_ENST00000536437.1_Missense_Mutation_p.D127Y|KDM2B_ENST00000538046.2_Missense_Mutation_p.D244Y|KDM2B_ENST00000543852.1_Missense_Mutation_p.D13Y NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 244 JmjC. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCTCCAAAGTCGATGTGGAAG 0.478000 43 36 4.64027e-19 2.2374e-18 0.000781405 1 0 SCML1 6322 broad.mit.edu 37 X 17768160 17768160 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:17768160C>T ENST00000380043.3 + 5 697 c.369C>T c.(367-369)tcC>tcT p.S123S SCML1_ENST00000398080.1_Silent_p.S29S|SCML1_ENST00000380041.3_Silent_p.S150S|SCML1_ENST00000380045.3_Silent_p.S29S NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 150 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) AGAATAATTCCCCGAGCAACC 0.498000 61 5 0 0 0.000781405 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267216 43267216 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:43267216G>A ENST00000372585.5 + 3 583 c.488G>A c.(487-489)gGa>gAa p.G163E SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G161E|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G161E NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 163 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GTGGCCTTTGGATATCTGTCC 0.567000 50 47 0 0 0.000781405 0 0 NOD2 64127 broad.mit.edu 37 16 50745127 50745127 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:50745127G>A ENST00000300589.2 + 4 1410 c.1305G>A c.(1303-1305)agG>agA p.R435R NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 435 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CGTTCCTCAGGAAGTACATCC 0.622000 44 26 0 0 0.000781405 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564661 176564661 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:176564661G>A ENST00000367662.3 + 3 3085 c.1921G>A c.(1921-1923)Gac>Aac p.D641N PAPPA2_ENST00000367661.3_Missense_Mutation_p.D641N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 641 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CGACTTTGACGACGGAGACTG 0.597000 11 37 0 0 0.000978159 0 0 PRPF8 10594 broad.mit.edu 37 17 1579044 1579044 + Silent SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:1579044C>A ENST00000572621.1 - 18 3007 c.2742G>T c.(2740-2742)ctG>ctT p.L914L PRPF8_ENST00000304992.6_Silent_p.L914L Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 914 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TTATCTTCTCCAGGGGCTCAA 0.527000 8 389 0.000673444 0.00319079 0.000673444 1 0 MAP4K1 11184 broad.mit.edu 37 19 39100614 39100614 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:39100614G>A ENST00000591517.1 - 12 890 c.862C>T c.(862-864)Ctt>Ttt p.L288F MAP4K1_ENST00000586296.1_Missense_Mutation_p.L288F|MAP4K1_ENST00000396857.2_Missense_Mutation_p.L288F|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.L284F NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 288 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGTTTGTCAAGAAGATCCAGG 0.572000 14 23 0 0 0.000422831 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171067 207171067 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:207171067G>A ENST00000374423.3 + 5 2201 c.1815G>A c.(1813-1815)ctG>ctA p.L605L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 605 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GAAGAAACCTGAAAGGTAGAC 0.398000 26 31 0 0 0.000720815 0 0 MINK1 50488 broad.mit.edu 37 17 4789758 4789758 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:4789758C>T ENST00000355280.6 + 10 982 c.786C>T c.(784-786)ttC>ttT p.F262F MINK1_ENST00000453408.3_Silent_p.F262F|MINK1_ENST00000347992.7_Silent_p.F262F NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 262 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CTAAGAAGTTCATTGACTTCA 0.552000 330 12 0 0 0.000781405 0 0 COL22A1 169044 broad.mit.edu 37 8 139603680 139603680 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139603680G>A ENST00000303045.6 - 64 5126 c.4680C>T c.(4678-4680)ccC>ccT p.P1560P COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P1540P NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1560 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGATTCCAGGGGGTCCCATCT 0.602000 HNSCC(7;0.00092) 10 20 0 0 0.000978159 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257385 140257385 + Silent SNP T T A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140257385T>A ENST00000398631.2 + 1 2328 c.2328T>A c.(2326-2328)ctT>ctA p.L776L PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCAAGCCTTCAGCTGTCTC 0.478000 8 15 0 0 0.000442599 0 0 NLRP1 22861 broad.mit.edu 37 17 5418189 5418189 + Nonsense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:5418189C>T ENST00000345221.3 - 16 4729 c.4175G>A c.(4174-4176)tGg>tAg p.W1392* NLRP1_ENST00000577119.1_Nonsense_Mutation_p.W1362*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.W1392*|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.W1406*|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000572272.1_Nonsense_Mutation_p.W1436* NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1436 CARD. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CTTCCGGTCCCAGGACTGGCT 0.577000 135 5 0 0 0.000781405 0 0 DPPA3 359787 broad.mit.edu 37 12 7867807 7867807 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7867807G>A ENST00000345088.2 + 2 228 c.111G>A c.(109-111)ttG>ttA p.L37L NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 37 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) CCGAGACGTTGATAAAGAACC 0.458000 60 46 0 0 0.000781405 0 0 PAQR5 54852 broad.mit.edu 37 15 69695940 69695940 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:69695940C>T ENST00000340965.3 + 9 1440 c.772C>T c.(772-774)Cac>Tac p.H258Y RP11-253M7.1_ENST00000558617.1_RNA|PAQR5_ENST00000561153.1_Missense_Mutation_p.H258Y|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.H258Y NM_001104554.1 NP_001098024.1 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 258 cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1) 11 CCAGCTGTTTCACGTGTGTGT 0.493000 32 26 0 0 0.000953801 0 0 APOD 347 broad.mit.edu 37 3 195295875 195295875 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:195295875G>A ENST00000343267.3 - 5 827 c.466C>T c.(466-468)Cct>Tct p.P156S NM_001647.3 NP_001638.1 P05090 APOD_HUMAN apolipoprotein D 156 lipid metabolic process extracellular space lipid binding|lipid transporter activity|protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GTTTCTGGAGGGAGATTAGGG 0.443000 61 65 0 0 0.000781405 0 0 AES 166 broad.mit.edu 37 19 3054025 3054025 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:3054025G>A ENST00000221561.8 - 7 766 c.587C>T c.(586-588)gCc>gTc p.A196V AES_ENST00000592330.1_Intron|AES_ENST00000586839.1_Missense_Mutation_p.A73V|AES_ENST00000327141.4_Missense_Mutation_p.A129V NM_198969.1 NP_945320.1 Q08117 AES_HUMAN amino-terminal enhancer of split 129 CCN domain. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity p.A196D(1) lung(8) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCTGGTGGGCTTGGAGCTG 0.716000 7 1 0 0 0.00198382 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175679 143175679 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143175679C>T ENST00000408916.1 + 1 714 c.714C>T c.(712-714)tcC>tcT p.S238S EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 238 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CCCTCATCTCCTTCCTCATTC 0.507000 46 77 0 0 0.000781405 0 0 TRERF1 55809 broad.mit.edu 37 6 42236396 42236396 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:42236396C>T ENST00000541110.1 - 5 1501 c.933G>A c.(931-933)caG>caA p.Q311Q TRERF1_ENST00000340840.2_Silent_p.Q311Q|TRERF1_ENST00000372922.4_Silent_p.Q311Q|TRERF1_ENST00000372917.4_Silent_p.Q311Q|TRERF1_ENST00000354325.2_Silent_p.Q311Q Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 311 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) gcagctgtagctgctgcggct 0.577000 47 46 0 0 0.000781405 0 0 PLCL1 5334 broad.mit.edu 37 2 198950799 198950799 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:198950799G>A ENST00000428675.1 + 2 2956 c.2558G>A c.(2557-2559)gGa>gAa p.G853E PLCL1_ENST00000437704.2_Missense_Mutation_p.G755E NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 853 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CGAAGTGGAGGAGGAAAGGCA 0.463000 19 22 0 0 0.00121646 0 0 USP29 57663 broad.mit.edu 37 19 57640713 57640713 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57640713C>T ENST00000254181.4 + 4 1124 c.670C>T c.(670-672)Ctc>Ttc p.L224F USP29_ENST00000598197.1_Missense_Mutation_p.L224F NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 224 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.L224F(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGATTTGAAACTCGGGCCTTC 0.363000 67 46 0 0 0.000781405 0 0 RPH3A 22895 broad.mit.edu 37 12 113303295 113303295 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:113303295G>A ENST00000389385.4 + 6 804 c.307G>A c.(307-309)Gaa>Aaa p.E103K RPH3A_ENST00000548866.1_Missense_Mutation_p.E54K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E103K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E103K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E54K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E103K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E99K NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 103 RabBD. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding p.E99*(1) breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) ACTGTGTGGAGAACAGCTGGG 0.532000 47 28 0 0 0.000781405 0 0 SALL3 27164 broad.mit.edu 37 18 76753212 76753212 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:76753212C>T ENST00000536229.3 + 1 1531 c.822C>T c.(820-822)ttC>ttT p.F274F SALL3_ENST00000537592.2_Silent_p.F407F|SALL3_ENST00000575389.2_Silent_p.F407F Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TGTCGGTGTTCGAGCCCAAAG 0.657000 11 18 0 0 0.000673444 0 0 MTMR1 8776 broad.mit.edu 37 X 149912857 149912857 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:149912857C>T ENST00000445323.2 + 13 1619 c.1498C>T c.(1498-1500)Cat>Tat p.H500Y MTMR1_ENST00000538506.1_Missense_Mutation_p.H317Y|MTMR1_ENST00000544228.1_Missense_Mutation_p.H492Y|MTMR1_ENST00000541925.1_Missense_Mutation_p.H398Y|MTMR1_ENST00000451863.2_Missense_Mutation_p.H492Y|MTMR1_ENST00000370390.3_Missense_Mutation_p.H492Y Q13613 MTMR1_HUMAN myotubularin related protein 1 492 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TAATGACAACCATGCGGATGC 0.413000 41 6 0 0 0.000781405 0 0 CSTF2T 23283 broad.mit.edu 37 10 53458235 53458235 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:53458235G>A ENST00000331173.4 - 1 1120 c.1075C>T c.(1075-1077)Cat>Tat p.H359Y PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 359 Gly-rich. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GGACCCTGATGGGGTGGACCC 0.557000 36 29 0 0 0.000814825 0 0 CSRNP1 64651 broad.mit.edu 37 3 39184921 39184921 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:39184921G>A ENST00000273153.5 - 5 1572 c.1395C>T c.(1393-1395)ttC>ttT p.F465F CSRNP1_ENST00000514182.1_Silent_p.F465F NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 465 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 CACCATTTAGGAAGCAGCTGG 0.597000 11 18 0 0 0.000673444 0 0 ZNF442 79973 broad.mit.edu 37 19 12461073 12461073 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:12461073G>A ENST00000242804.4 - 6 1908 c.1326C>T c.(1324-1326)ttC>ttT p.F442F ZNF442_ENST00000438182.1_Silent_p.F373F NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TAGAAATACGGAAGGCTTTAC 0.383000 47 37 0 0 0.000781405 0 0 LRP1 4035 broad.mit.edu 37 12 57598914 57598914 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:57598914C>T ENST00000243077.3 + 73 11683 c.11217C>T c.(11215-11217)acC>acT p.T3739T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3739 LDL-receptor class A 31. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCACACCACCCACTGCAAAG 0.617000 33 10 0 0 0.000692331 0 0 OR2H2 7932 broad.mit.edu 37 6 29556177 29556177 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:29556177G>A ENST00000383640.2 + 1 495 c.456G>A c.(454-456)gtG>gtA p.V152V GABBR1_ENST00000355973.3_Intron NM_007160.3 NP_009091.3 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, member 2 152 defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 14 TTGGGCTAGTGGAGTCAGTGG 0.602000 56 65 0 0 0.000781405 0 0 PHF8 23133 broad.mit.edu 37 X 54022212 54022212 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:54022212G>A ENST00000338154.6 - 12 1741 c.1237C>T c.(1237-1239)Ctg>Ttg p.L413L PHF8_ENST00000357988.5_Silent_p.L449L|PHF8_ENST00000338946.6_Silent_p.L413L|PHF8_ENST00000322659.8_Silent_p.L413L NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 449 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 TGGTCTGGCAGAGCCTGTCAA 0.483000 13 3 0 0 0.00185496 0 0 GLIS3 169792 broad.mit.edu 37 9 4286371 4286371 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:4286371C>T ENST00000381971.3 - 2 648 c.55G>A c.(55-57)Ggg>Agg p.G19R NM_001042413.1 NP_001035878.1 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 0 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) ATCCTAGGCCCCTGTGGGGTT 0.562000 34 2 0 0 0.0024448 0 0 IGHM 3507 broad.mit.edu 37 14 106322014 106322014 + RNA SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:106322014G>A ENST00000390559.2 - 0 309 CCCTCACCTGGAAGAGGCACG 0.642000 61 44 0 0 0.000781405 0 0 GTPBP4 23560 broad.mit.edu 37 10 1054962 1054962 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:1054962C>T ENST00000360803.4 + 11 1260 c.1178C>T c.(1177-1179)tCc>tTc p.S393F GTPBP4_ENST00000545048.1_Missense_Mutation_p.S346F|GTPBP4_ENST00000538293.1_Missense_Mutation_p.S277F|GTPBP4_ENST00000491635.1_3'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 393 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) ACTGAGGAGTCCAGGAAGAAG 0.557000 34 15 0 0 0.000814825 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65208001 65208001 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:65208001C>T ENST00000380230.3 + 2 69 c.40C>T c.(40-42)Cct>Tct p.P14S ANKDD1A_ENST00000491145.1_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.P14S|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.P14S|ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000496660.1_Intron NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 14 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CACAGTGCTTCCTCTGGAGAG 0.577000 33 27 0 0 0.00128727 0 0 TIMP4 7079 broad.mit.edu 37 3 12195891 12195891 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:12195891T>C ENST00000287814.4 - 4 923 c.413A>G c.(412-414)gAg>gGg p.E138G SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 138 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 GGACAGGTCCTCCCAGGGCTC 0.493000 57 259 0 0 0.000781405 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253821 32253821 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:32253821C>T ENST00000332378.4 - 1 53 c.23G>A c.(22-24)aGa>aAa p.R8K NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 8 keratin filament structural molecule activity p.R8I(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 AGAGCAATTTCTTGTGGAGCA 0.532000 52 78 0 0 0.000781405 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263148 140263148 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:140263148C>T ENST00000289272.2 + 1 1295 c.1295C>T c.(1294-1296)tCg>tTg p.S432L PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S432L|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGGGGGCTCGCCTTCGCTG 0.652000 57 65 0 0 0.000781405 0 0 PTPN5 84867 broad.mit.edu 37 11 18759452 18759452 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:18759452C>T ENST00000396170.1 - 9 2143 c.879G>A c.(877-879)aaG>aaA p.K293K PTPN5_ENST00000358540.2_Silent_p.K325K|PTPN5_ENST00000477854.1_Silent_p.K129K|PTPN5_ENST00000396168.1_Silent_p.K301K|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Silent_p.K293K|PTPN5_ENST00000396171.4_Silent_p.K325K NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 325 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 TGTACCGGTTCTTCCGCACCA 0.582000 26 20 0 0 0.000878237 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617744 111617744 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:111617744G>A ENST00000374667.3 - 1 1495 c.467C>T c.(466-468)cCc>cTc p.P156L NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 156 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GTTGCTGCTGGGGCTGAGCGG 0.612000 49 3 0 0 0.000781405 0 0 ATP2B2 491 broad.mit.edu 37 3 10452327 10452327 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:10452327G>A ENST00000397077.1 - 5 947 c.372C>T c.(370-372)taC>taT p.Y124Y ATP2B2_ENST00000383800.4_Silent_p.Y124Y|ATP2B2_ENST00000360273.2_Silent_p.Y124Y|ATP2B2_ENST00000343816.4_Silent_p.Y124Y|ATP2B2_ENST00000352432.4_Silent_p.Y124Y Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 124 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGGGCGGGTGGTAGAAGGACA 0.652000 48 125 0 0 0.000781405 0 0 TTF1 7270 broad.mit.edu 37 9 135254449 135254449 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:135254449G>A ENST00000334270.2 - 10 2500 c.2461C>T c.(2461-2463)Cca>Tca p.P821S TTF1_ENST00000461970.1_5'UTR NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 821 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TACTAACCTGGAAAAGTCTTT 0.383000 50 16 0 0 0.000781405 0 0 PLD1 5337 broad.mit.edu 37 3 171405331 171405331 + Missense_Mutation SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:171405331T>C ENST00000356327.5 - 15 1653 c.1583A>G c.(1582-1584)aAa>aGa p.K528R PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.K528R|PLD1_ENST00000351298.4_Missense_Mutation_p.K528R NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 528 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGGCTCATTTTTATCTTTGAG 0.368000 46 68 0 0 0.000781405 0 0 ZNF606 80095 broad.mit.edu 37 19 58511242 58511242 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:58511242G>A ENST00000341164.4 - 4 731 c.111C>T c.(109-111)gcC>gcT p.A37A ZNF606_ENST00000547828.1_Silent_p.A37A|ZNF606_ENST00000547121.1_Silent_p.A37A|ZNF606_ENST00000536132.1_Intron|ZNF606_ENST00000552579.1_Intron NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CCACGTGCCAGGCAGGATACT 0.597000 47 13 0 0 0.000680045 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284611 52284611 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:52284611C>T ENST00000301190.6 + 5 1108 c.881C>T c.(880-882)cCc>cTc p.P294L ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.P100L|ANKRD33_ENST00000340970.4_Missense_Mutation_p.P169L NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 169 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) TTGAGCCTCCCCTTTGCCCCG 0.672000 10 9 0 0 0.000673444 0 0 KLK11 11012 broad.mit.edu 37 19 51527368 51527368 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:51527368G>A ENST00000594768.1 - 4 677 c.492C>T c.(490-492)tcC>tcT p.S164S KLK11_ENST00000600362.1_Intron|KLK11_ENST00000319720.7_Silent_p.S132S|KLK11_ENST00000391804.3_Silent_p.S157S|KLK11_ENST00000453757.3_Silent_p.S132S NM_144947.1 NP_659196.1 Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 164 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) CACAGCGTGAGGAGAGGGTGA 0.622000 11 16 0 0 0.00136819 0 0 GDF3 9573 broad.mit.edu 37 12 7848199 7848199 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:7848199C>T ENST00000329913.3 - 1 173 c.126G>A c.(124-126)caG>caA p.Q42Q NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 42 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GTTGGAACTTCTGGGGTGAAG 0.483000 13 25 0 0 0.00185496 0 0 USP29 57663 broad.mit.edu 37 19 57641411 57641411 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:57641411C>T ENST00000254181.4 + 4 1822 c.1368C>T c.(1366-1368)atC>atT p.I456I USP29_ENST00000598197.1_Silent_p.I456I NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 456 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCTCTCCATCAACCTGCACC 0.358000 102 69 0 0 0.000781405 0 0 FBXO34 55030 broad.mit.edu 37 14 55819194 55819194 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:55819194C>T ENST00000313833.4 + 2 2331 c.2086C>T c.(2086-2088)Cgg>Tgg p.R696W FBXO34_ENST00000440021.1_Missense_Mutation_p.R696W NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 696 p.R696W(1) breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CAGCTTTAATCGGGCAATCCA 0.488000 20 17 0 0 0.00121646 0 0 SERPINE1 5054 broad.mit.edu 37 7 100773852 100773852 + Missense_Mutation SNP G G T rs145904727 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:100773852G>T ENST00000223095.4 + 3 579 c.422G>T c.(421-423)cGg>cTg p.R141L SERPINE1_ENST00000445463.2_Missense_Mutation_p.R126L NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 141 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) AGGCTGTTCCGGAGCACGGTC 0.537000 9 431 0.00185496 0.00877794 0.00185496 1 0 CDKAL1 54901 broad.mit.edu 37 6 20546711 20546711 + Missense_Mutation SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:20546711C>A ENST00000274695.4 + 3 297 c.130C>A c.(130-132)Caa>Aaa p.Q44K CDKAL1_ENST00000378610.1_Missense_Mutation_p.Q44K|CDKAL1_ENST00000378624.4_Silent_p.P11P NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 44 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity p.Q44K(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) GCGAAATACCCAAAAATATTT 0.368000 13 387 1.15088e-07 5.5052e-07 0.000422831 1 0 NUP62 23636 broad.mit.edu 37 19 50411714 50411714 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:50411714G>A ENST00000596217.1 - 2 3238 c.1351C>T c.(1351-1353)Ctc>Ttc p.L451F IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.L375F|NUP62_ENST00000422090.2_Missense_Mutation_p.L451F|NUP62_ENST00000597029.1_Missense_Mutation_p.L451F|NUP62_ENST00000352066.3_Missense_Mutation_p.L451F|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.L451F P37198 NUP62_HUMAN nucleoporin 62kDa 451 carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) ATGTCCTTGAGATCCTGGGCC 0.592000 43 183 0 0 0.000680045 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752709 62752709 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:62752709C>T ENST00000331425.6 - 0 726 NR_003952.1 GGTTTGCGGACCAGCTAAAGG 0.418000 16 17 0 0 0.00074312 0 0 FAM83B 222584 broad.mit.edu 37 6 54806494 54806494 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:54806494G>A ENST00000306858.7 + 5 2841 c.2725G>A c.(2725-2727)Gaa>Aaa p.E909K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 909 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TGTTACCCCTGAAAGAAGACC 0.458000 41 44 0 0 0.000509022 0 0 N4BP2 55728 broad.mit.edu 37 4 40104811 40104811 + Missense_Mutation SNP C C G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:40104811C>G ENST00000261435.6 + 4 1762 c.1346C>G c.(1345-1347)cCg>cGg p.P449R NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 449 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 AGAGGTCTTCCGGGATCTGGA 0.363000 13 31 0 0 0.000308642 0 0 LRP1B 53353 broad.mit.edu 37 2 141946119 141946119 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:141946119C>T ENST00000389484.3 - 7 1855 c.884G>A c.(883-885)cGa>cAa p.R295Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 295 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAGAGATTTCGAGTGAGCCA 0.408000 TSP Lung(27;0.18) 23 40 0 0 0.000375601 0 0 FSTL1 11167 broad.mit.edu 37 3 120123744 120123744 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:120123744G>A ENST00000295633.3 - 7 893 c.537C>T c.(535-537)atC>atT p.I179I FSTL1_ENST00000424703.2_Silent_p.I144I NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 179 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) TTGTAATATTGATGGCAGTTT 0.443000 63 120 0 0 0.000781405 0 0 GPR65 8477 broad.mit.edu 37 14 88477762 88477762 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:88477762G>A ENST00000267549.3 + 2 1129 c.571G>A c.(571-573)Ggc>Agc p.G191S RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 191 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 GACGTGTACAGGCTATGCAAT 0.413000 40 32 0 0 0.00222228 0 0 TINAGL1 64129 broad.mit.edu 37 1 32051447 32051447 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:32051447G>A ENST00000271064.7 + 10 1263 c.1187G>A c.(1186-1188)cGg>cAg p.R396Q TINAGL1_ENST00000457433.2_Missense_Mutation_p.R365Q|TINAGL1_ENST00000481165.1_3'UTR NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 396 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) AGATACCGCCGGCATGGGACC 0.612000 10 9 0 0 0.000673444 0 0 FSTL4 23105 broad.mit.edu 37 5 132585176 132585176 + Missense_Mutation SNP C C T rs151107205 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:132585176C>T ENST00000265342.7 - 7 1069 c.820G>A c.(820-822)Gga>Aga p.G274R FSTL4_ENST00000507112.1_5'UTR NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 274 Ig-like 1. extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTCAGGTCTCCATGGACGGCG 0.582000 19 22 0 0 0.00152264 0 0 PDZD2 23037 broad.mit.edu 37 5 31799773 31799773 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:31799773G>A ENST00000438447.1 + 2 806 c.418G>A c.(418-420)Gat>Aat p.D140N PDZD2_ENST00000282493.3_Missense_Mutation_p.D140N O15018 PDZD2_HUMAN PDZ domain containing 2 140 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CCGACTGCGGGATGAGATCCT 0.597000 44 68 0 0 0.000781405 0 0 GABRA4 2557 broad.mit.edu 37 4 46930341 46930341 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:46930341G>A ENST00000264318.3 - 9 2548 c.1566C>T c.(1564-1566)gcC>gcT p.A522A NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 522 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGAGAATACGGGCATATTTGT 0.413000 41 42 0 0 0.00148497 0 0 SPN 6693 broad.mit.edu 37 16 29675345 29675345 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr16:29675345C>T ENST00000360121.3 + 2 388 c.296C>T c.(295-297)tCc>tTc p.S99F AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.S99F NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 99 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 CAGGAAGTTTCCATCAAGATG 0.522000 62 25 0 0 0.000781405 0 0 UGT2A3 79799 broad.mit.edu 37 4 69816923 69816923 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:69816923G>A ENST00000251566.4 - 1 586 c.556C>T c.(556-558)Cca>Tca p.P186S UGT2A3_ENST00000420231.2_5'UTR NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 186 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGTGGAGCTGGAAGTTTCCCA 0.448000 9 11 0 0 0.000274275 0 0 NRAP 4892 broad.mit.edu 37 10 115374691 115374691 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:115374691T>C ENST00000369358.4 - 28 3361 c.3117A>G c.(3115-3117)gaA>gaG p.E1039E NRAP_ENST00000360478.3_Silent_p.E996E|NRAP_ENST00000369360.3_Silent_p.E1004E|NRAP_ENST00000359988.3_Silent_p.E1031E Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1031 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGCTCCAGGATTCCTTATAAC 0.458000 39 6 0 0 0.000509022 0 0 SIGLEC6 946 broad.mit.edu 37 19 52023467 52023467 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52023467G>A ENST00000346477.3 - 7 1251 c.1183C>T c.(1183-1185)Cct>Tct p.P395S SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P341L|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.P359S|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P352L|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P411S NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 411 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GCCTCAGCAGGGTGGTCTGAA 0.512000 63 262 0 0 0.000781405 0 0 MAVS 57506 broad.mit.edu 37 20 3844958 3844958 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:3844958C>T ENST00000428216.2 + 6 809 c.681C>T c.(679-681)ttC>ttT p.F227F MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.F86F NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 227 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CTGTCTCCTTCCAGCCCCTGG 0.607000 37 88 0 0 0.00148497 0 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 5 74 0 0 0.000602214 0 0 ITGA4 3676 broad.mit.edu 37 2 182363425 182363425 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:182363425G>A ENST00000397033.2 + 15 2046 c.1616G>A c.(1615-1617)gGa>gAa p.G539E NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 539 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TCTTCTAATGGAACTTCTGAC 0.363000 43 34 0 0 0.000680045 0 0 OR4N4 283694 broad.mit.edu 37 15 22382645 22382645 + Missense_Mutation SNP C C T rs148988194 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:22382645C>T ENST00000328795.4 + 1 264 c.173C>T c.(172-174)cCc>cTc p.P58L RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTCACAGCCCCCCTCTATTTA 0.458000 12 310 0 0 0.000953801 0 0 COL22A1 169044 broad.mit.edu 37 8 139833474 139833474 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139833474G>A ENST00000303045.6 - 7 1596 c.1150C>T c.(1150-1152)Ctg>Ttg p.L384L COL22A1_ENST00000435777.1_Silent_p.L384L NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 384 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTCTGCACCAGCGCACAGTCA 0.572000 HNSCC(7;0.00092) 26 64 0 0 0.000878237 0 0 LILRP2 79166 broad.mit.edu 37 19 55221331 55221331 + RNA SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:55221331C>T ENST00000413439.1 + 0 1118 ACTCTTCTTTCCCTCCAGGCG 0.622000 5 29 0 0 0.000602214 0 0 WBSCR22 114049 broad.mit.edu 37 7 73108352 73108352 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:73108352C>T ENST00000265758.2 + 10 731 c.673C>T c.(673-675)Ccc>Tcc p.P225S WBSCR22_ENST00000423497.1_Missense_Mutation_p.P225S|WBSCR22_ENST00000423166.2_3'UTR NM_017528.4 NP_059998.2 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 225 nucleus methyltransferase activity autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1) 13 Lung NSC(55;0.0908)|all_lung(88;0.198) TGAAGTTGAACCCAGGGAGTC 0.547000 25 94 0 0 0.000878237 0 0 DNAJC2 27000 broad.mit.edu 37 7 102956221 102956221 + Silent SNP T T C TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:102956221T>C ENST00000379263.3 - 15 1876 c.1626A>G c.(1624-1626)gaA>gaG p.E542E PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.E489E NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 542 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 CTTCAAATCGTTCTGAAGGCG 0.383000 72 22 0 0 0.000781405 0 0 CLCN1 1180 broad.mit.edu 37 7 143047536 143047536 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:143047536C>T ENST00000343257.2 + 21 2562 c.2475C>T c.(2473-2475)ccC>ccT p.P825P NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 825 CBS 2. muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACCAGTCTCCCTTCCAGCTGG 0.562000 36 8 0 0 0.000953801 0 0 SYNJ1 8867 broad.mit.edu 37 21 34018874 34018874 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr21:34018874G>A ENST00000382499.2 - 24 3192 c.3193C>T c.(3193-3195)Ctt>Ttt p.L1065F SYNJ1_ENST00000357345.3_Missense_Mutation_p.L1026F|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L1026F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L1021F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1065F NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1026 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 TGCTGAGGAAGAAGTTCCTCC 0.468000 30 49 0 0 0.001512 0 0 NXPE1 120400 broad.mit.edu 37 11 114401269 114401269 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:114401269C>T ENST00000536312.1 - 6 1353 c.461G>A c.(460-462)gGa>gAa p.G154E NXPE1_ENST00000251921.2_Missense_Mutation_p.G12E|NXPE1_ENST00000424269.1_Missense_Mutation_p.G154E neurexophilin and PC-esterase domain family, member 1 CATCACCTTTCCTGAAGCACC 0.572000 18 6 0 0 0.000958276 0 0 OSBP2 23762 broad.mit.edu 37 22 31091279 31091279 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr22:31091279C>T ENST00000332585.6 + 1 487 c.383C>T c.(382-384)tCc>tTc p.S128F OSBP2_ENST00000382310.3_Missense_Mutation_p.S128F|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.S128F|OSBP2_ENST00000407373.1_Intron NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 128 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GAGCCGCTCTCCCGGGCGGTG 0.667000 38 42 0 0 0.00128727 0 0 XDH 7498 broad.mit.edu 37 2 31587102 31587102 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:31587102G>A ENST00000379416.3 - 24 2601 c.2553C>T c.(2551-2553)ttC>ttT p.F851F NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 851 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CAGTCTTCATGAAGCCAACCT 0.532000 29 52 0 0 0.00209593 0 0 SCN5A 6331 broad.mit.edu 37 3 38592273 38592273 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:38592273C>T ENST00000413689.1 - 28 5783 c.5590G>A c.(5590-5592)Gag>Aag p.E1864K SCN5A_ENST00000423572.2_Missense_Mutation_p.E1863K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1846K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1846K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1864K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1810K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1863K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1810K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E1831K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1810K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1864 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCCCCAGACTCCCCCAGGACC 0.557000 32 80 0 0 0.00058488 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776795 31776795 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:31776795C>T ENST00000382902.1 - 11 1596 c.1504G>A c.(1504-1506)Gac>Aac p.D502N OTUD7A_ENST00000307050.4_Missense_Mutation_p.D495N Q8TE49 OTU7A_HUMAN OTU domain containing 7A 495 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) ttctccttgtccttGCCGTTC 0.607000 10 10 0 0 0.000978159 0 0 AHNAK 79026 broad.mit.edu 37 11 62291668 62291668 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:62291668G>A ENST00000378024.4 - 5 10495 c.10221C>T c.(10219-10221)ttC>ttT p.F3407F AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3407 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AAATACTCAGGAAAGGCATTT 0.388000 48 33 0 0 0.000781405 0 0 LINS 55180 broad.mit.edu 37 15 101113849 101113849 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:101113849G>A ENST00000561308.1 - 5 1382 c.1229C>T c.(1228-1230)tCt>tTt p.S410F LINS_ENST00000559149.1_Intron|LINS_ENST00000560133.1_Missense_Mutation_p.S291F|LINS_ENST00000314742.8_Intron Q8NG48 LINES_HUMAN lines homolog (Drosophila) 0 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 GGAGTTTGGAGAATTACCTTT 0.308000 9 17 0 0 0.000274275 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826135 43826135 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:43826135G>A ENST00000389420.3 - 21 3067 c.3068C>T c.(3067-3069)cCc>cTc p.P1023L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1023L|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P177L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1023 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGCCCAACTGGGACAGGAAAA 0.388000 24 19 0 0 0.000375601 0 0 MAP3K5 4217 broad.mit.edu 37 6 136980431 136980431 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:136980431G>A ENST00000359015.4 - 9 1812 c.1452C>T c.(1450-1452)gcC>gcT p.A484A NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 484 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CTAGGACGCTGGCCCCCAGAA 0.403000 40 5 0 0 0.00170553 0 0 ZNF608 57507 broad.mit.edu 37 5 123977036 123977036 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:123977036G>A ENST00000306315.5 - 7 4794 c.4359C>T c.(4357-4359)tcC>tcT p.S1453S ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Silent_p.S1026S NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1453 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGCCGAAGGGGGAGTGGCGAT 0.572000 13 42 0 0 0.000219431 0 0 UNC45A 55898 broad.mit.edu 37 15 91486206 91486206 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:91486206C>T ENST00000394275.2 + 11 1711 c.876C>T c.(874-876)gtC>gtT p.V292V UNC45A_ENST00000418476.2_Silent_p.V307V|UNC45A_ENST00000553671.2_3'UTR NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 307 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) AGGTGGGGGTCTCTGGCCAAG 0.577000 224 211 0 0 0.000781405 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368978 86368978 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:86368978C>T ENST00000400286.2 - 2 2264 c.1666G>A c.(1666-1668)Gaa>Aaa p.E556K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 556 LRRCT 2. integral to membrane p.E556K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GCTTTCAATTCCTTTTTGTCG 0.453000 38 30 0 0 0.00148497 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434766 42434766 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:42434766G>A ENST00000397272.3 - 19 2386 c.2295C>T c.(2293-2295)ttC>ttT p.F765F PLA2G4F_ENST00000382396.4_Silent_p.F763F NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 763 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) TAACCAGGGGGAAGTGCAGCA 0.632000 35 43 0 0 0.00195071 0 0 OR52N1 79473 broad.mit.edu 37 11 5809841 5809841 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:5809841G>A ENST00000317078.1 - 1 205 c.206C>T c.(205-207)tCc>tTc p.S69F TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATCTGTGAAGGAAAGAAGGGC 0.458000 29 38 0 0 0.000878237 0 0 GCLC 2729 broad.mit.edu 37 6 53379056 53379056 + Silent SNP C C A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr6:53379056C>A ENST00000229416.6 - 6 1182 c.699G>T c.(697-699)ccG>ccT p.P233P GCLC_ENST00000514004.1_Silent_p.P233P NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 233 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding p.P233P(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) AAATATGATCCGGCTTAGAAG 0.363000 5 111 0.00198382 0.00936454 0.00198382 1 0 GRIN2B 2904 broad.mit.edu 37 12 13761666 13761666 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:13761666G>A ENST00000279593.3 - 9 2090 c.1881C>T c.(1879-1881)acC>acT p.T627T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 627 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGATCTTGGAGGTGGTCCCCT 0.522000 24 26 0 0 0.00106085 0 0 CFH 3075 broad.mit.edu 37 1 196694353 196694353 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:196694353G>A ENST00000367429.4 + 12 2039 c.1799G>A c.(1798-1800)gGa>gAa p.G600E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 600 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGCAAACCAGGATTTACAATA 0.398000 35 19 0 0 0.00058488 0 0 OBSCN 84033 broad.mit.edu 37 1 228479646 228479646 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:228479646G>A ENST00000570156.2 + 44 11748 c.11674G>A c.(11674-11676)Gaa>Aaa p.E3892K OBSCN_ENST00000284548.11_Missense_Mutation_p.E3463K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2310K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3463K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E582K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E582K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2929 Ig-like 40. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGAGGCCGTGGAAGGGGCCAC 0.582000 9 31 0 0 0.000442599 0 0 MFRP 83552 broad.mit.edu 37 11 119214621 119214621 + Silent SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:119214621G>A ENST00000555262.1 - 9 1188 c.1029C>T c.(1027-1029)ttC>ttT p.F343F C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Intron|MFRP_ENST00000449574.2_Silent_p.F343F|MFRP_ENST00000530681.1_Silent_p.F343F NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) TGAAGTTGTGGAACTGTAGTT 0.577000 54 5 0 0 0.000781405 0 0 CA13 377677 broad.mit.edu 37 8 86180738 86180738 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:86180738C>T ENST00000321764.3 + 6 853 c.551C>T c.(550-552)tCt>tTt p.S184F CA13_ENST00000517298.1_3'UTR NM_198584.2 NP_940986.1 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 184 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding large_intestine(1)|lung(6) 7 GACCTATTGTCTCTGCTTCCA 0.398000 56 57 0 0 0.000781405 0 0 MBD5 55777 broad.mit.edu 37 2 149243398 149243398 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr2:149243398C>T ENST00000407073.1 + 11 3930 c.2933C>T c.(2932-2934)cCa>cTa p.P978L MBD5_ENST00000404807.1_Missense_Mutation_p.P1211L NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 978 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ATGTTTCCTCCAAATCAGCAA 0.433000 36 41 0 0 0.000953801 0 0 ZNF441 126068 broad.mit.edu 37 19 11891506 11891506 + Missense_Mutation SNP T T G TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:11891506T>G ENST00000357901.4 + 4 969 c.867T>G c.(865-867)ttT>ttG p.F289L ZNF441_ENST00000454339.2_Missense_Mutation_p.F222L NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGAAAGCATTTTATCATCTTG 0.403000 41 27 0 0 0.00222228 0 0 C9orf131 138724 broad.mit.edu 37 9 35044082 35044082 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:35044082G>A ENST00000312292.5 + 2 1503 c.1456G>A c.(1456-1458)Ggc>Agc p.G486S C9orf131_ENST00000354479.5_Missense_Mutation_p.G413S|C9orf131_ENST00000421362.2_Missense_Mutation_p.G438S NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 486 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TCTAGTAATGGGCCCCCAGGG 0.537000 49 8 0 0 0.000781405 0 0 FAM135B 51059 broad.mit.edu 37 8 139380153 139380153 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:139380153C>T ENST00000395297.1 - 2 244 c.74G>A c.(73-75)aGa>aAa p.R25K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 25 p.R25T(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACTTACCCTCTCTGAAAGAG 0.388000 HNSCC(54;0.14) 25 74 0 0 0.000586117 0 0 SFRP1 6422 broad.mit.edu 37 8 41122947 41122947 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr8:41122947C>T ENST00000220772.3 - 3 1021 c.684G>A c.(682-684)aaG>aaA p.K228K SFRP1_ENST00000379845.3_Silent_p.K92K NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 228 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) GCTTCTTCTTCTTGGGGACAA 0.473000 25 50 0 0 0.000586117 0 0 PTGS1 5742 broad.mit.edu 37 9 125140259 125140259 + Missense_Mutation SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:125140259C>T ENST00000362012.2 + 3 181 c.176C>T c.(175-177)aCc>aTc p.T59I PTGS1_ENST00000223423.4_Missense_Mutation_p.T59I|PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Missense_Mutation_p.T34I NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 59 EGF-like. cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TGTGACTGCACCCGCACGGGC 0.607000 29 3 0 0 0.001512 0 0 PSMA1 5682 broad.mit.edu 37 11 14526784 14526784 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:14526784G>A ENST00000530457.1 - 10 1201 c.671C>T c.(670-672)cCt>cTt p.P224L PSMA1_ENST00000396394.2_Missense_Mutation_p.P249L|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.P255L|PSMA1_ENST00000396393.1_Missense_Mutation_p.P249L|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 249 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 TTCATCAGCAGGTTGAGCAGG 0.323000 41 104 0 0 0.000781405 0 0 ADH7 131 broad.mit.edu 37 4 100349317 100349317 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr4:100349317G>A ENST00000437033.2 - 4 777 c.274C>T c.(274-276)Cct>Tct p.P92S ADH7_ENST00000209665.4_Missense_Mutation_p.P104S|ADH7_ENST00000476959.1_Missense_Mutation_p.P112S|ADH7_ENST00000482593.1_Missense_Mutation_p.P35S P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 104 G -> A (in dbSNP:rs1573496). ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) AGAAAGAGAGGGATGACTTTG 0.358000 35 55 0 0 0.00058488 0 0 FPR2 2358 broad.mit.edu 37 19 52272199 52272199 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:52272199C>T ENST00000598776.1 + 2 1060 c.288C>T c.(286-288)ttC>ttT p.F96F FPR2_ENST00000598953.1_Silent_p.F96F|FPR2_ENST00000340023.6_Silent_p.F96F NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 96 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TTGGCTGGTTCCTGTGTAAGT 0.478000 30 129 0 0 0.00058488 0 0 ESPN 83715 broad.mit.edu 37 1 6500831 6500831 + Frame_Shift_Del DEL C C - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:6500831delC ENST00000377828.1 + 4 989 c.821delC c.(820-822)acfs p.T274fs NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 274 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) TGGGGCGGGACCCCGCTGCAC 0.751 2 4 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 7 61 --- --- --- --- BEST4 266675 broad.mit.edu 37 1 45249992 45249992 + Frame_Shift_Del DEL G G - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:45249992delG ENST00000372207.3 - 9 1311 c.1312delC c.(1312-1314)gcfs p.R438fs NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 438 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) TGCGGGGGGCGGGGGGTGCCT 0.776 2 4 --- --- --- --- CCDC18 343099 broad.mit.edu 37 1 93683360 93683371 + In_Frame_Del DEL AGCCTTTGAAAA AGCCTTTGAAAA - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:93683360_93683371delAGCCTTTGAAAA ENST00000343253.7 + 14 2395_2406 c.1893_1904delAGCCTTTGAAAA c.(1891-1905)tta>tt p.LAFEK631del CCDC18_ENST00000401026.3_In_Frame_Del_p.LAFEK632del|CCDC18_ENST00000338949.4_Intron|CCDC18_ENST00000557479.1_In_Frame_Del_p.LAFEK750del|CCDC18_ENST00000334652.5_5'UTR Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 631 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AAATTTGTTTAGCCTTTGAAAAAGCAAAGAAA 0.288 11 124 --- --- --- --- MIA3 375056 broad.mit.edu 37 1 222837459 222837459 + Frame_Shift_Del DEL T T - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr1:222837459delT ENST00000344922.5 + 27 5407 c.5382delT c.(5380-5382)ccfs p.P1794fs MIA3_ENST00000340535.7_Frame_Shift_Del_p.P672fs|MIA3_ENST00000344441.6_Frame_Shift_Del_p.P1794fs|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1794 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TCTGCGGACCTTTTGGGCCTC 0.537 7 649 --- --- --- --- POLQ 10721 broad.mit.edu 37 3 121207488 121207489 + Frame_Shift_Ins INS - - A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:121207488_121207489insA ENST00000264233.5 - 16 4417_4418 c.4289_4290insT c.(4288-4290)taafs p.*1430fs NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1430 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CATTCTTTTTTAAAAAAAGACC 0.342 DNA polymerases (catalytic subunits) 8 51 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 3 4 --- --- --- --- SPOCK1 6695 broad.mit.edu 37 5 136448181 136448181 + Frame_Shift_Del DEL A A - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr5:136448181delA ENST00000394945.1 - 5 586 c.417delT c.(415-417)tgfs p.C139fs SPOCK1_ENST00000282223.7_Frame_Shift_Del_p.C139fs NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 139 Kazal-like. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTGCCACGGGACAGGGCTTGC 0.458 19 45 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66770959 66770959 + RNA DEL T T - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:66770959delT ENST00000416602.2 + 0 265 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) gtcATCTGTATTTTTTTTTTA 0.353 8 158 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72159821 72159821 + RNA DEL T T - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr7:72159821delT ENST00000438125.1 - 0 984 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TCCTTAGTAATTTTTTTTTTT 0.388 9 67 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974715 21974732 + In_Frame_Del DEL GCAGCGCCCCCGCCTCCA GCAGCGCCCCCGCCTCCA - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr9:21974715_21974732delGCAGCGCCCCCGCCTCCA ENST00000304494.5 - 1 365_382 c.95_112delTGGAGGCGGGGGCGCTGC c.(94-114)ccc>c p.LEAGALP32del CDKN2A_ENST00000579122.1_In_Frame_Del_p.LEAGALP32del|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.LEAGALP32del|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.LEAGALP32del NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 32 L -> P (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.G35E(3)|p.L37L(2)|p.A34V(2)|p.V28_E33del(2)|p.E33*(2)|p.R29_A34del(2)|p.G35R(2)|p.A36T(1)|p.E33D(1)|p.A34A(1)|p.E33fs*8(1)|p.L37fs*6(1)|p.R29fs*9(1)|p.A36fs*8(1)|p.0(1)|p.L32R(1)|p.G35fs*13(1)|p.V28_V51del(1)|p.P38fs*7(1)|p.G35V(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGTGCGTTGGGCAGCGCCCCCGCCTCCAGCAGCGCCCG 0.711 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 90 74 --- --- --- --- PDZD7 79955 broad.mit.edu 37 10 102778804 102778804 + Frame_Shift_Del DEL C C - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr10:102778804delC ENST00000370215.3 - 8 1324 c.1099delG c.(1099-1101)acfs p.D367fs NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 367 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) ATGGCTGTGTCCGCCCGCCCC 0.736 OREG0020453 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- KRTAP5-6 440023 broad.mit.edu 37 11 1718543 1718557 + In_Frame_Del DEL GCTGTGGGTCCAGCT GCTGTGGGTCCAGCT - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr11:1718543_1718557delGCTGTGGGTCCAGCT ENST00000382160.1 + 1 119_133 c.68_82delGCTGTGGGTCCAGCT c.(67-84)ggc>g p.GCGSSC23del NM_001012416.1 NP_001012416.1 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 23 keratin filament endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCTGTGGGGGCTGTGGGTCCAGCTGCTGTGTGCC 0.656 24 59 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 7 485 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23908923 23908941 + Frame_Shift_Del DEL AGTAAATTGTCAAAAAATG AGTAAATTGTCAAAAAATG - rs144616826 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:23908923_23908941delAGTAAATTGTCAAAAAATG ENST00000382298.3 - 10 9662_9680 c.9074_9092delCATTTTTTGACAATTTACT c.(9073-9093)cafs p.PFFDNLL3025fs SACS_ENST00000402364.1_Frame_Shift_Del_p.PFFDNLL2275fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.PFFDNLL3025fs NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3025 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTCATCCTGTAGTAAATTGTCAAAAAATGGTCTAGTTTT 0.352 14 61 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 7 116 --- --- --- --- SPRYD7 57213 broad.mit.edu 37 13 50502187 50502187 + Frame_Shift_Del DEL A A - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr13:50502187delA ENST00000378195.2 - 2 395 c.141delT c.(139-141)gtfs p.V47fs SPRYD7_ENST00000361840.3_Frame_Shift_Del_p.V86fs NM_001127482.1 NP_001120954.1 Q5W111 SPRY7_HUMAN SPRY domain containing 7 86 B30.2/SPRY. haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2) 6 GATTCAAGTTAACCTTCTGAG 0.393 10 43 --- --- --- --- TCL6 27004 broad.mit.edu 37 14 96129844 96129844 + RNA DEL C C - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr14:96129844delC ENST00000467865.1 + 0 252 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) aggtttcctgccccagtgctc 0.532 T TRA@ T-ALL 8 17 --- --- --- --- ULK4P3 89837 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 7 27 --- --- --- --- CCDC144CP 348254 broad.mit.edu 37 17 20227624 20227624 + RNA DEL A A - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:20227624delA ENST00000340196.4 + 0 568 AAAAAGAAGTAAGAGTCAGGA 0.318 6 4 --- --- --- --- DHX8 1659 broad.mit.edu 37 17 41584910 41584915 + In_Frame_Del DEL GAAACA GAAACA - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr17:41584910_41584915delGAAACA ENST00000262415.3 + 14 2035_2040 c.1963_1968delGAAACA c.(1963-1968)del p.ET655del DHX8_ENST00000540306.1_In_Frame_Del_p.ET655del NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 655 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CACTAGCCCTGAAACAGTCATCAAGT 0.476 18 18 --- --- --- --- LPIN2 9663 broad.mit.edu 37 18 2939491 2939495 + Frame_Shift_Del DEL GGGAA GGGAA - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr18:2939491_2939495delGGGAA ENST00000261596.4 - 6 1043_1047 c.805_809delTTCCC c.(805-810)afs p.FP269fs NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 269 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GGTGGACTCTGGGAATCCGCCCCAC 0.502 32 13 --- --- --- --- SBK2 646643 broad.mit.edu 37 19 56041414 56041415 + Frame_Shift_Del DEL CC CC - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr19:56041414_56041415delCC ENST00000413299.1 - 4 769_770 c.732_733delGG c.(730-735)ctacfs p.LD244fs SBK2_ENST00000344158.3_Frame_Shift_Del_p.LD244fs NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 244 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 GCCCAGGCGTCCAGGGCGGGCT 0.752 2 4 --- --- --- --- INSM1 3642 broad.mit.edu 37 20 20350010 20350010 + Frame_Shift_Del DEL T T - TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:20350010delT ENST00000310227.1 + 1 1246 c.1099delT c.(1099-1101)acfs p.Y367fs NM_002196.2 NP_002187.1 Q01101 INSM1_HUMAN insulinoma-associated 1 367 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) GGACGGGCTCTACGAGTGCCA 0.741 7 4 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29628229 29628230 + Frame_Shift_Ins INS - - A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chr20:29628229_29628230insA ENST00000278882.3 + 6 611_612 c.231_232insA c.(229-234)ggaaatfs p.N78fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCACTTAGGGGAAAATGGCTTT 0.351 9 97 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0687b673-2aff-4c35-8bf6-db58424fd301 1f4737a1-4b81-4037-8c7a-a57c4b80b7ed g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 5 --- --- --- ---