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 TTN 7273 broad.mit.edu 37 2 179594488 179594488 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:179594488C>T ENST00000589042.1 - 63 18716 c.18492G>A c.(18490-18492)caG>caA p.Q6164Q TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.Q5847Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.Q4920Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5847 Ig-like 43. 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) CACCAGAAATCTGGAAAGTGG 0.453000 100 69 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75979787 75979787 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:75979787G>A ENST00000308508.5 - 3 3711 c.3619C>T c.(3619-3621)Ccc>Tcc p.P1207S NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1207 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GTGTCGCGGGGGCTGAGGCTG 0.642000 53 63 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839370 15839370 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:15839370G>A ENST00000305899.3 + 1 537 c.517G>A c.(517-519)Gag>Aag p.E173K NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TGGATCCCATGAGATCCAGCA 0.557000 47 58 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34022494 34022494 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr20:34022494C>T ENST00000374372.1 - 4 1222 c.719G>A c.(718-720)cGg>cAg p.R240Q GDF5OS_ENST00000374375.1_Missense_Mutation_p.R180C|GDF5_ENST00000374369.3_Missense_Mutation_p.R240Q P43026 GDF5_HUMAN growth differentiation factor 5 240 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CCGCAAGATCCGCAGCTCGGC 0.667000 110 77 0 0 1 0 0 NF2 4771 broad.mit.edu 37 22 30035179 30035179 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr22:30035179C>T ENST00000338641.4 + 3 782 c.341C>T c.(340-342)aCa>aTa p.T114I NF2_ENST00000361452.4_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000361166.4_Missense_Mutation_p.T114I|NF2_ENST00000413209.2_Missense_Mutation_p.T114I|NF2_ENST00000361676.4_Missense_Mutation_p.T72I|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.T114I|NF2_ENST00000397789.3_Missense_Mutation_p.T114I|NF2_ENST00000334961.7_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.T114I NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 114 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.H95fs*3(1)|p.?fs(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 CAGGAGATCACACAACATTTA 0.463000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 69 29 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544915 23544915 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:23544915G>A ENST00000300619.7 - 4 1071 c.866C>T c.(865-867)aCt>aTt p.T289I ZNF91_ENST00000397082.2_Missense_Mutation_p.T257I|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 289 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTTCTCTCCAGTGTGTATCCT 0.383000 63 75 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940685 22940685 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:22940685G>A ENST00000397104.3 - 5 1752 c.1753C>T c.(1753-1755)Ccc>Tcc p.P585S ZNF99_ENST00000596209.1_Missense_Mutation_p.P676S zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CATTTGTAGGGTTTCTCTTCA 0.368000 35 53 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141461232 141461232 + Missense_Mutation SNP T T A rs139039328 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:141461232T>A ENST00000389328.4 - 2 549 c.535A>T c.(535-537)Atc>Ttc p.I179F TRAPPC9_ENST00000438773.2_Missense_Mutation_p.I81F|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.I81F NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 81 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GTGATGGTGATGAGGCCCACG 0.582000 36 136 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24231384 24231384 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr16:24231384G>A ENST00000321728.7 + 17 2141 c.1966G>A c.(1966-1968)Gaa>Aaa p.E656K PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 656 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GGACCAAAATGAATTTGCTGG 0.448000 58 67 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 374007 374007 + Nonsense_Mutation SNP C C A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:374007C>A ENST00000342640.4 - 3 478 c.436G>T c.(436-438)Gga>Tga p.G146* THEG_ENST00000346878.2_Intron NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 146 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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) CCACAGCGTCCCTTCCTGCGA 0.607000 11 22 1.58986e-06 1.63474e-06 1 1 0 INSRR 3645 broad.mit.edu 37 1 156823923 156823923 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:156823923G>A ENST00000368195.3 - 2 654 c.258C>T c.(256-258)ttC>ttT p.F86F NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 86 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGTAGACACGGAAGAGCAGCA 0.627000 34 37 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695303 64695303 + Silent SNP G G A rs139405284 byFrequency TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:64695303G>A ENST00000164133.2 + 4 1048 c.426G>A c.(424-426)ccG>ccA p.P142P NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 142 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 GGACTCTGCCGCCCAGTGAGA 0.517000 36 54 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70944628 70944628 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr6:70944628C>T ENST00000357250.6 - 34 2286 c.2128G>A c.(2128-2130)Gaa>Aaa p.E710K RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.E467K|COL9A1_ENST00000320755.7_Missense_Mutation_p.E467K NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 710 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.E710*(1)|p.E467*(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 AAGCCAGGTTCCCCAGGATTA 0.527000 24 49 0 0 1 0 0 COX10 1352 broad.mit.edu 37 17 13980197 13980197 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:13980197C>T ENST00000261643.3 + 3 400 c.323C>T c.(322-324)tCt>tTt p.S108F COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.S108F NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 108 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CCCAGCCTATCTTTGTCCAGA 0.413000 74 51 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47269689 47269689 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chrX:47269689C>T ENST00000377073.3 + 2 173 c.87C>T c.(85-87)ttC>ttT p.F29F NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 29 KRAB. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CCGTGTCATTCGAGGATGTGG 0.498000 62 8 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51274185 51274185 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:51274185G>A ENST00000270590.4 + 1 465 c.328G>A c.(328-330)Gga>Aga p.G110R NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 110 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GTGGCTCCTCGGAGAGTGGGC 0.527000 44 56 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33999485 33999485 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:33999485C>T ENST00000373381.4 - 63 10078 c.9902G>A c.(9901-9903)cGt>cAt p.R3301H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3157 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) TTTTTGACAACGGAAGAGGAC 0.562000 21 30 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69965095 69965095 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr16:69965095C>T ENST00000359154.2 + 14 1587 c.1486C>T c.(1486-1488)Cgg>Tgg p.R496W WWP2_ENST00000448661.1_Missense_Mutation_p.R496W|WWP2_ENST00000356003.2_Missense_Mutation_p.R496W|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.R380W|WWP2_ENST00000568684.1_Missense_Mutation_p.R57W NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 496 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCGCAGTTTTCGGTGGAAGTA 0.488000 83 98 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172501872 172501872 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:172501872G>A ENST00000367723.3 + 1 384 c.260G>A c.(259-261)cGa>cAa p.R87Q NM_016227.2 NP_057311.2 SUN domain containing ossification factor AGAGAAAAACGAATTCTGGAA 0.517000 27 28 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85679817 85679817 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:85679817G>A ENST00000310298.4 + 22 2558 c.2306G>A c.(2305-2307)aGa>aAa p.R769K PDE8A_ENST00000339708.5_Missense_Mutation_p.R723K|PDE8A_ENST00000394553.1_Missense_Mutation_p.R769K|PDE8A_ENST00000557957.1_Missense_Mutation_p.R697K O60658 PDE8A_HUMAN phosphodiesterase 8A 769 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) GTGTTTGACAGAAATACCTGC 0.428000 31 92 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141461233 141461233 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:141461233G>A ENST00000389328.4 - 2 548 c.534C>T c.(532-534)ctC>ctT p.L178L TRAPPC9_ENST00000438773.2_Silent_p.L80L|TRAPPC9_ENST00000389327.3_Silent_p.L80L NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 80 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TGATGGTGATGAGGCCCACGA 0.582000 39 136 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406299 38406299 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:38406299G>A ENST00000322350.5 + 7 1130 c.784G>A c.(784-786)Gaa>Aaa p.E262K EGFLAM_ENST00000336740.6_Missense_Mutation_p.E28K|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E262K|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 262 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGAGGATGATGAAGGATTTGA 0.473000 14 28 0 0 1 0 0 SPANXD 64648 broad.mit.edu 37 X 140785745 140785745 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chrX:140785745C>T ENST00000370515.3 - 2 504 c.171G>A c.(169-171)agG>agA p.R57R NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TTTTAAAGTTCCTCCTGTAGC 0.483000 151 236 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52003224 52003224 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:52003224C>T ENST00000291707.3 - 2 813 c.758G>A c.(757-759)gGa>gAa p.G253E SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G135E NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 253 Ig-like V-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TTTCCTGCTTCCTCTCTCCAC 0.547000 43 76 0 0 1 0 0 OTOR 56914 broad.mit.edu 37 20 16730648 16730648 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr20:16730648C>T ENST00000246081.2 + 3 400 c.356C>T c.(355-357)cCc>cTc p.P119L OTOR_ENST00000486129.1_3'UTR NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin 119 sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 AAGGAAGTTCCCACCACGGTA 0.478000 15 28 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22508879 22508879 + RNA SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:22508879C>T ENST00000390448.3 + 0 40 TTGGAATTATCGTAATTTGTT 0.418000 41 87 0 0 1 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238615 71238615 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:71238615G>A ENST00000398536.4 + 1 303 c.269G>A c.(268-270)tGt>tAt p.C90Y NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 90 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 TGTGGTTCTTGTGgctgctcc 0.647000 6 300 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73074795 73074795 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:73074795C>T ENST00000263674.3 + 16 5600 c.5250C>T c.(5248-5250)gtC>gtT p.V1750V NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1750 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 TCCACAGTGTCCACGTGTACC 0.597000 36 77 0 0 1 0 0 SCARA3 51435 broad.mit.edu 37 8 27516954 27516954 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:27516954C>T ENST00000301904.3 + 5 1287 c.1267C>T c.(1267-1269)Cgg>Tgg p.R423W SCARA3_ENST00000337221.4_Missense_Mutation_p.R423W NM_016240.2 NP_057324.2 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 423 R -> Q (in dbSNP:rs3735754). response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) GCTCAGTGCCCGGCTGGACCT 0.582000 17 5 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78936306 78936306 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:78936306G>A ENST00000306801.3 + 32 4100 c.3738G>A c.(3736-3738)tcG>tcA p.S1246S RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.S1088S NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 1246 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 TGCCTGAGTCGGTAAATGTGC 0.632000 6 262 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA 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 5 85 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144992172 144992172 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:144992172G>A ENST00000322810.4 - 32 12397 c.12228C>T c.(12226-12228)ttC>ttT p.F4076F PLEC_ENST00000398774.2_Silent_p.F3907F|PLEC_ENST00000345136.3_Silent_p.F3939F|PLEC_ENST00000436759.2_Silent_p.F3966F|PLEC_ENST00000356346.3_Silent_p.F3925F|PLEC_ENST00000354958.2_Silent_p.F3917F|PLEC_ENST00000354589.3_Silent_p.F3939F|PLEC_ENST00000527096.1_Silent_p.F3962F|PLEC_ENST00000357649.2_Silent_p.F3943F NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4076 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGGCGTCCACGAAGACACCAG 0.642000 13 55 0 0 1 0 0 ADAM10 102 broad.mit.edu 37 15 58904163 58904163 + Silent SNP T T C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:58904163T>C ENST00000260408.3 - 12 1982 c.1539A>G c.(1537-1539)gcA>gcG p.A513A ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Silent_p.A212A|ADAM10_ENST00000561288.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 513 Disintegrin. 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) ATGCACACTGTGCTGTACAAC 0.393000 26 39 0 0 1 0 0 GRTP1 79774 broad.mit.edu 37 13 114005241 114005241 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr13:114005241C>T ENST00000375430.4 - 4 434 c.388G>A c.(388-390)Gac>Aac p.D130N GRTP1_ENST00000375431.4_Missense_Mutation_p.D130N|GRTP1_ENST00000326039.3_Missense_Mutation_p.D52N Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 130 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) AAGCAGGGGTCCGTGGTCTTC 0.582000 101 143 0 0 1 0 0 RHPN1 114822 broad.mit.edu 37 8 144461589 144461589 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:144461589G>A ENST00000289013.6 + 8 957 c.856G>A c.(856-858)Gaa>Aaa p.E286K NM_052924.2 NP_443156.2 Q8TCX5 RHPN1_HUMAN rhophilin, Rho GTPase binding protein 1 286 BRO1. signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CCAGGCCCAGGAATGTGTGTT 0.672000 4 22 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70721092 70721092 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:70721092C>T ENST00000226444.3 - 3 310 c.198G>A c.(196-198)gtG>gtA p.V66V NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 66 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TGCACTTTTCCACATCACCCT 0.348000 26 37 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35433156 35433156 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr20:35433156G>A ENST00000237536.4 - 10 3410 c.3069C>T c.(3067-3069)ctC>ctT p.L1023L SOGA1_ENST00000279034.5_Silent_p.L785L|SOGA1_ENST00000456801.2_Silent_p.L626L|SOGA1_ENST00000357779.3_Silent_p.L785L NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 785 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TATGGCCCTTGAGCTCTGCCC 0.597000 68 48 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832853 61832853 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr10:61832853G>A ENST00000280772.1 - 37 7977 c.7786C>T c.(7786-7788)Cgt>Tgt p.R2596C ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2596 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTTTTGTCACGAAAAAACTGT 0.418000 108 16 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19337547 19337547 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:19337547C>T ENST00000252575.5 + 7 1368 c.1325C>T c.(1324-1326)cCc>cTc p.P442L NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 442 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GCCTCATGGCCCACTGGGGAA 0.622000 22 22 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802800 185802800 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:185802800G>A ENST00000302277.6 + 4 3271 c.2677G>A c.(2677-2679)Ggt>Agt p.G893S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 893 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGAAACCAATGGTGAAACTGA 0.403000 93 70 0 0 1 0 0 TMEM218 219854 broad.mit.edu 37 11 124967550 124967550 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:124967550G>A ENST00000455225.1 - 4 951 c.300C>T c.(298-300)atC>atT p.I100I TMEM218_ENST00000532407.1_Silent_p.I100I|TMEM218_ENST00000532156.1_3'UTR|TMEM218_ENST00000531909.1_Silent_p.I100I|TMEM218_ENST00000531262.1_5'UTR|TMEM218_ENST00000529609.1_3'UTR|TMEM218_ENST00000528724.1_Silent_p.I126I|TMEM218_ENST00000527766.1_Silent_p.I100I|TMEM218_ENST00000527271.1_Silent_p.I100I|TMEM218_ENST00000526175.1_Silent_p.I100I|TMEM218_ENST00000529583.1_Silent_p.I100I|TMEM218_ENST00000279968.4_Silent_p.I100I A2RU14 TM218_HUMAN transmembrane protein 218 100 integral to membrane breast(1)|large_intestine(2)|lung(1)|prostate(1) 5 GAACATAATGGATTAAAACCA 0.448000 20 35 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539569 55539569 + Missense_Mutation SNP G G A rs35613782 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:55539569G>A ENST00000220676.1 + 4 3275 c.3127G>A c.(3127-3129)Gaa>Aaa p.E1043K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1043 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) TATAGCTGCTGAAAAATCAGG 0.373000 88 114 0 0 1 0 0 BIRC5 332 broad.mit.edu 37 17 76219645 76219645 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:76219645C>T ENST00000600484.1 - 5 634 c.635G>A c.(634-636)gGc>gAc p.G212D BIRC5_ENST00000301633.4_3'UTR|BIRC5_ENST00000374948.2_Silent_p.G107G|BIRC5_ENST00000350051.3_3'UTR|BIRC5_ENST00000589892.1_3'UTR AGGCCTCTGGCCGGAGCTGCC 0.557000 54 26 0 0 1 0 0 ERLIN1 10613 broad.mit.edu 37 10 101935808 101935808 + Missense_Mutation SNP G G T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr10:101935808G>T ENST00000421367.2 - 5 3031 c.324C>A c.(322-324)aaC>aaA p.N108K ERLIN1_ENST00000407654.3_Missense_Mutation_p.N108K NM_001100626.1|NM_006459.3 NP_001094096.1|NP_006450.2 O75477 ERLN1_HUMAN ER lipid raft associated 1 106 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding Colorectal(252;0.234) Epithelial(162;3.85e-10)|all cancers(201;3.25e-08) CTGCAGTATAGTTCCTCACGA 0.413000 36 5 2.09667e-21 2.21846e-21 1 1 0 SPOCK1 6695 broad.mit.edu 37 5 136315117 136315117 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:136315117C>T ENST00000394945.1 - 10 1202 c.1033G>A c.(1033-1035)Gcc>Acc p.A345T SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.A345T NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 345 Thyroglobulin type-1. 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) CACTGTGTGGCTTTGTAATAG 0.527000 33 58 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183888427 183888427 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr3:183888427C>T ENST00000313143.3 + 15 2283 c.2035C>T c.(2035-2037)Cca>Tca p.P679S DVL3_ENST00000431765.1_Missense_Mutation_p.P662S|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 679 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CATGGGGCCCCCAGGAGCCCC 0.706000 35 10 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2413193 2413193 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr20:2413193C>T ENST00000202625.2 + 13 2086 c.2025C>T c.(2023-2025)tcC>tcT p.S675S TGM6_ENST00000381423.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 675 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) TCACCCCCTCCAAAAGTGGCC 0.587000 64 138 0 0 1 0 0 HLA-B 3106 broad.mit.edu 37 6 31323290 31323290 + Nonsense_Mutation SNP G G T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr6:31323290G>T ENST00000412585.2 - 4 727 c.699C>A c.(697-699)taC>taA p.Y233* NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 TCTCCGCAGGGTAGAAACCCA 0.582000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 71 100 2.84776e-26 3.0384e-26 1 1 0 FLT4 2324 broad.mit.edu 37 5 180048620 180048620 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:180048620C>T ENST00000261937.6 - 13 2020 c.1942G>A c.(1942-1944)Gag>Aag p.E648K FLT4_ENST00000502649.1_Missense_Mutation_p.E648K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.E648K NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 648 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TAGTGGCCCTCGTGCTCGGGC 0.692000 27 24 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45809381 45809381 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr22:45809381G>A ENST00000357450.4 - 1 67 c.68C>T c.(67-69)cCc>cTc p.P23L SMC1B_ENST00000404354.3_Missense_Mutation_p.P23L NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 23 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCTCCGGAAGGGGCCAATGAC 0.672000 24 13 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27019506 27019506 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:27019506C>T ENST00000382009.3 + 12 2215 c.1948C>T c.(1948-1950)Cct>Tct p.P650S STIM2_ENST00000412829.2_Missense_Mutation_p.P642S|STIM2_ENST00000467011.1_Missense_Mutation_p.P555S|STIM2_ENST00000237364.5_Missense_Mutation_p.P642S|STIM2_ENST00000467087.1_Missense_Mutation_p.P555S|STIM2_ENST00000465503.1_Missense_Mutation_p.P563S NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 555 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) ACACTCCTTGCCTTCCCCTGA 0.572000 5 277 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92533014 92533014 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:92533014G>A ENST00000298047.6 + 9 6852 c.6835G>A c.(6835-6837)Gat>Aat p.D2279N FAT3_ENST00000525166.1_Missense_Mutation_p.D2129N|FAT3_ENST00000409404.2_Missense_Mutation_p.D2279N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2279 Cadherin 20. 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) GCTAGTTAATGATGTAAATGA 0.413000 TCGA Ovarian(4;0.039) 12 14 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179419272 179419272 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:179419272C>T ENST00000589042.1 - 332 89026 c.88802G>A c.(88801-88803)gGa>gAa p.G29601E TTN_ENST00000460472.2_Missense_Mutation_p.G20536E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27960E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20661E|TTN_ENST00000342992.6_Missense_Mutation_p.G27033E|TTN_ENST00000342175.6_Missense_Mutation_p.G20728E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27960 Ig-like 135. 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) GTATTCATTTCCTTTGATAAT 0.453000 67 38 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51729317 51729317 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:51729317C>T ENST00000436584.2 + 2 351 c.296C>T c.(295-297)aCc>aTc p.T99I CD33_ENST00000391796.3_Missense_Mutation_p.T226I|CD33_ENST00000421133.2_Missense_Mutation_p.T99I|CD33_ENST00000262262.4_Missense_Mutation_p.T226I P20138 CD33_HUMAN CD33 molecule 226 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) ACGGAGAGAACCATCCAGCTC 0.602000 24 39 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55711789 55711789 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:55711789G>A ENST00000376350.3 - 7 1257 c.1235C>T c.(1234-1236)cCa>cTa p.P412L PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.P234L NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 412 Fibronectin type-III 5. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTGAGGGTATGGGCCATCGGG 0.537000 53 61 0 0 1 0 0 GOT1L1 137362 broad.mit.edu 37 8 37794544 37794544 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:37794544C>T ENST00000307599.4 - 5 650 c.551G>A c.(550-552)gGg>gAg p.G184E NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 184 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) GATAATGTTCCCCATCACAAG 0.552000 26 130 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 76726424 76726424 + Silent SNP A A G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:76726424A>G ENST00000538941.2 - 26 3507 c.2568T>C c.(2566-2568)ctT>ctC p.L856L SCAPER_ENST00000324767.7_Silent_p.L1102L|SCAPER_ENST00000563290.1_Silent_p.L1102L NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 1101 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 TTTACCTGATAAGGTCCTGAA 0.373000 22 34 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119035960 119035960 + Splice_Site SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:119035960G>A ENST00000296499.5 + 4 1472 c.e4-1 NDST3_ENST00000433996.2_Intron NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CCCCCCTAAAGGAACTGAAGA 0.398000 30 51 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 167962653 167962653 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:167962653C>T ENST00000367840.3 + 7 972 c.878C>T c.(877-879)cCt>cTt p.P293L DCAF6_ENST00000432587.2_Missense_Mutation_p.P262L|DCAF6_ENST00000367843.3_Missense_Mutation_p.P293L|DCAF6_ENST00000312263.6_Missense_Mutation_p.P293L NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 293 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 CTTAAAACTCCTTCTGCGGAA 0.468000 44 47 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126249485 126249485 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:126249485C>T ENST00000405249.1 - 8 1495 c.1496G>A c.(1495-1497)aGt>aAt p.S499N GRM8_ENST00000358373.3_Silent_p.Q475Q|GRM8_ENST00000339582.2_Silent_p.Q475Q|GRM8_ENST00000444921.2_Silent_p.Q475Q|GRM8_ENST00000480995.1_Intron O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 0 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTATTTGATACTGGAAGATAT 0.363000 HNSCC(24;0.065) 95 12 0 0 1 0 0 SLC25A52 147407 broad.mit.edu 37 18 29339741 29339741 + Missense_Mutation SNP T T G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr18:29339741T>G ENST00000269205.5 - 1 1102 c.914A>C c.(913-915)aAa>aCa p.K305T SLC25A52_ENST00000579441.2_Missense_Mutation_p.K295T NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 295 transport integral to membrane|mitochondrial inner membrane TCATATAAATTTTAACAAGAA 0.358000 45 58 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205312652 205312652 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:205312652C>T ENST00000367156.3 - 5 897 c.81G>A c.(79-81)ctG>ctA p.L27L KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.L27L|KLHDC8A_ENST00000539253.1_Silent_p.L27L NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 27 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) CCCCGGTCTCCAGCAGGGAGC 0.677000 27 42 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733512 56733512 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:56733512G>A ENST00000587340.1 - 7 1618 c.923C>T c.(922-924)tCc>tTc p.S308F ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S307F|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S162F|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S308F|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S191F Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 308 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTCTTCTTGGGAAATGGAGGA 0.547000 64 105 0 0 1 0 0 NR2E3 10002 broad.mit.edu 37 15 72110079 72110079 + RNA SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:72110079G>A ENST00000563709.1 + 0 279 ctactgaaacgaaacatttgc 0.428000 4 8 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210977336 210977336 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:210977336G>A ENST00000367007.4 - 8 1723 c.1554C>T c.(1552-1554)tcC>tcT p.S518S KCNH1_ENST00000271751.4_Silent_p.S545S NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 545 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTCTGGACATGGACCAAGTGG 0.483000 52 152 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103234250 103234250 + Missense_Mutation SNP C C T rs62644499 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr12:103234250C>T ENST00000553106.1 - 12 1715 c.1243G>A c.(1243-1245)Gac>Aac p.D415N PAH_ENST00000307000.2_Missense_Mutation_p.D410N NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 415 D -> N (in non-PKU HPA; haplotype 1). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) GTGTATGGGTCGTAGCGAACT 0.463000 4 144 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178427427 178427427 + Missense_Mutation SNP G G T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:178427427G>T ENST00000448150.3 + 14 3785 c.2967G>T c.(2965-2967)ttG>ttT p.L989F RASAL2_ENST00000462775.1_Missense_Mutation_p.L859F|RASAL2_ENST00000367649.3_Missense_Mutation_p.L1000F NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 859 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CTCTTGCTTTGCCACGACAAA 0.547000 25 57 7.92952e-12 8.21963e-12 1 1 0 KCNH5 27133 broad.mit.edu 37 14 63316527 63316527 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:63316527G>A ENST00000322893.7 - 8 1681 c.1413C>T c.(1411-1413)ttC>ttT p.F471F KCNH5_ENST00000394968.1_Silent_p.F413F|KCNH5_ENST00000420622.2_Silent_p.F471F NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 471 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATTTGCTGGAAAATTGTTG 0.348000 75 55 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62278836 62278836 + Splice_Site SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr3:62278836G>A ENST00000474889.1 + 30 4569 c.4191_splice c.e30-1 p.E1398_splice PTPRG_ENST00000295874.10_Splice_Site_p.E1369_splice|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000498655.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1398 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TGTTTTTCAGGAACAATACCA 0.353000 37 100 0 0 1 0 0 SNW1 22938 broad.mit.edu 37 14 78217799 78217799 + Missense_Mutation SNP G G C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:78217799G>C ENST00000261531.7 - 3 255 c.193C>G c.(193-195)Cca>Gca p.P65A SNW1_ENST00000555761.1_Missense_Mutation_p.P65A|SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 65 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TGGATCTCTGGAAAAGCACCT 0.358000 21 58 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271331 1271331 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:1271331C>T ENST00000447027.1 + 31 13288 c.13230C>T c.(13228-13230)ccC>ccT p.P4410P MUC5B_ENST00000529681.1_Silent_p.P4407P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4407 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) CCACTGGCCCCACGGCCACCC 0.662000 95 49 0 0 1 0 0 KCNIP3 30818 broad.mit.edu 37 2 96040896 96040896 + Silent SNP C C T rs138182369 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:96040896C>T ENST00000295225.5 + 5 522 c.387C>T c.(385-387)acC>acT p.T129T KCNIP3_ENST00000360990.3_Silent_p.T107T|KCNIP3_ENST00000468529.1_Silent_p.T103T|KCNIP3_ENST00000377181.2_3'UTR NM_013434.4 NP_038462.1 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3, calsenilin 129 EF-hand 2. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 READ - Rectum adenocarcinoma(193;0.13) ATGCCACCACCTATGCACACT 0.632000 45 114 0 0 1 0 0 MAP4K2 5871 broad.mit.edu 37 11 64564750 64564750 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:64564750G>A ENST00000294066.2 - 18 1364 c.1273C>T c.(1273-1275)Cca>Tca p.P425S MAP4K2_ENST00000377350.3_Missense_Mutation_p.P425S NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 425 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 GACTCACCTGGGGGACTGGAC 0.657000 6 13 0 0 1 0 0 KIAA0355 9710 broad.mit.edu 37 19 34818451 34818451 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:34818451C>T ENST00000299505.6 + 4 1704 c.831C>T c.(829-831)atC>atT p.I277I NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 277 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) ACATAAAAATCGACAGTGCTT 0.398000 40 60 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004088 187004088 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:187004088G>A ENST00000296795.2 + 4 1352 c.1248G>A c.(1246-1248)aaG>aaA p.K416K TLR3_ENST00000504367.1_Silent_p.K139K NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 416 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-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;0.0066)|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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) ACCTAACCAAGAATAAAATCT 0.398000 24 38 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66457513 66457513 + RNA SNP A A T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr9:66457513A>T ENST00000424345.1 + 0 67 GCGTTTCATAAGGTCCTTCCT 0.557000 5 17 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913207 143913207 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:143913207G>A ENST00000409869.1 + 3 325 c.148G>A c.(148-150)Ggg>Agg p.G50R ARHGAP15_ENST00000295095.6_Missense_Mutation_p.G50R Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 50 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity p.G50R(1) endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) CACCGATGTCGGGAAGGTCAC 0.423000 29 90 0 0 1 0 0 APOBEC3A 200315 broad.mit.edu 37 22 39358189 39358189 + Missense_Mutation SNP C C A rs150770813 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr22:39358189C>A ENST00000402255.1 + 5 760 c.556C>A c.(556-558)Ctg>Atg p.L186M APOBEC3A_ENST00000249116.2_Missense_Mutation_p.L186M apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 Melanoma(58;0.04) CAGCCAAGCCCTGAGTGGGAG 0.632000 4 164 8.12818e-05 8.29075e-05 1 1 0 DYX1C1 161582 broad.mit.edu 37 15 55722907 55722907 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:55722907C>T ENST00000348518.3 - 9 1485 c.1118G>A c.(1117-1119)aGa>aAa p.R373K DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000321149.3_Silent_p.K408K|DYX1C1_ENST00000457155.2_Missense_Mutation_p.R373K|DYX1C1-CCPG1_ENST00000565113.1_RNA NM_001033559.2 NP_001028731.1 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 0 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) CATTCCGAATCTTCTCAGCAT 0.313000 39 56 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184931459 184931459 + Silent SNP A A C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:184931459A>C ENST00000308497.4 + 3 2903 c.1468A>C c.(1468-1470)Aga>Cga p.R490R STOX2_ENST00000438269.1_Silent_p.R490R NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 490 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) AGCCAAGGAGAGATCCAGGTC 0.562000 8 10 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138313002 138313002 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:138313002C>T ENST00000421622.1 - 7 818 c.610G>A c.(610-612)Ggg>Agg p.G204R SVOPL_ENST00000419765.3_Missense_Mutation_p.G324R|SVOPL_ENST00000436657.1_Missense_Mutation_p.G172R|SVOPL_ENST00000288513.5_Missense_Mutation_p.G172R Q8N434 SVOPL_HUMAN SVOP-like 324 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GAGTCCCCCCCAGTCACCACC 0.557000 67 42 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154548373 154548373 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:154548373C>T ENST00000368476.3 + 6 1738 c.1474C>T c.(1474-1476)Ctc>Ttc p.L492F NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 492 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CACCACCTTCCTCCACTCAGA 0.567000 75 97 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611143 179611143 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:179611143C>T ENST00000360870.5 - 46 16206 c.15984G>A c.(15982-15984)gtG>gtA p.V5328V TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8840 Ig-like 34. 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) TCACTATTTTCACCTGCTTCT 0.348000 34 57 0 0 1 0 0 YIPF5 81555 broad.mit.edu 37 5 143541788 143541788 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:143541788G>A ENST00000274496.5 - 5 739 c.605C>T c.(604-606)tCt>tTt p.S202F YIPF5_ENST00000513112.1_Missense_Mutation_p.S148F|YIPF5_ENST00000448443.2_Missense_Mutation_p.S202F NM_001271732.1|NM_030799.7 NP_001258661.1|NP_110426.4 Q969M3 YIPF5_HUMAN Yip1 domain family, member 5 202 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane large_intestine(2)|lung(5)|ovary(1)|skin(1) 9 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TTACTGCAAAGAAAATATCAC 0.388000 51 72 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78911664 78911664 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr9:78911664G>A ENST00000545128.1 + 27 3944 c.3406G>A c.(3406-3408)Gaa>Aaa p.E1136K NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 843 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 CCGAGCATGCGAAACCTGCAC 0.562000 65 11 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247063751 247063751 + Missense_Mutation SNP C C A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:247063751C>A ENST00000366508.1 - 9 1379 c.1243G>T c.(1243-1245)Gtt>Ttt p.V415F AHCTF1_ENST00000391829.2_Missense_Mutation_p.V380F|AHCTF1_ENST00000326225.3_Missense_Mutation_p.V389F Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 380 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-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;0.00271) AAGACTGAAACACTAGTGTCA 0.348000 29 64 3.65163e-15 3.83196e-15 1 1 0 DACT1 51339 broad.mit.edu 37 14 59112763 59112763 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:59112763C>T ENST00000395153.3 + 4 1458 c.1311C>T c.(1309-1311)tcC>tcT p.S437S DACT1_ENST00000395151.3_Silent_p.S193S|DACT1_ENST00000556859.1_Silent_p.S193S|DACT1_ENST00000335867.4_Silent_p.S474S|DACT1_ENST00000541264.2_Silent_p.S193S NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 474 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CAGGGGAGTCCCCTAAGGAAA 0.597000 143 83 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913208 143913208 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:143913208G>A ENST00000409869.1 + 3 326 c.149G>A c.(148-150)gGg>gAg p.G50E ARHGAP15_ENST00000295095.6_Missense_Mutation_p.G50E Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 50 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) ACCGATGTCGGGAAGGTCACT 0.423000 29 89 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3738956 3738956 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:3738956G>A ENST00000541714.2 + 13 1917 c.1455G>A c.(1453-1455)gaG>gaA p.E485E TJP3_ENST00000589378.1_Silent_p.E494E|TJP3_ENST00000262968.9_Silent_p.E518E|TJP3_ENST00000587686.1_Silent_p.E504E|TJP3_ENST00000382008.3_Silent_p.E499E|TJP3_ENST00000539908.2_Silent_p.E449E NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 499 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) CTCACTTTGAGCTGGAGCCCA 0.657000 57 70 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766957 77766957 + Missense_Mutation SNP A A C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:77766957A>C ENST00000521891.2 + 10 8248 c.7800A>C c.(7798-7800)gaA>gaC p.E2600D ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2574D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2555D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2555D NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2555 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) ATAGCGGTGAAGACCAACACC 0.438000 HNSCC(33;0.089) 11 15 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14990 14990 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chrM:14990C>T ENST00000361789.2 + 1 244 c.244C>T c.(244-246)Ctt>Ttt p.82_82insF mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TCATCCGCTACCTTCACGCCA 0.473000 102 25 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49920500 49920500 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:49920500C>T ENST00000447857.3 + 19 1729 c.1524C>T c.(1522-1524)ctC>ctT p.L508L NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 508 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GGGGCCAGCTCTGCCTGCCCC 0.662000 11 11 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74973894 74973894 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:74973894C>T ENST00000261978.4 - 26 4281 c.3895G>A c.(3895-3897)Gga>Aga p.G1299R LTBP2_ENST00000556690.1_Intron NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1299 Cys-rich.|EGF-like 14; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) ATGCAGTCTCCGTTCGGGGCC 0.552000 37 102 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862882 10862882 + RNA SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr21:10862882C>T ENST00000559480.1 + 0 178 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GCACCAGGTCCATGCACAAGG 0.562000 25 312 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78381065 78381065 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:78381065G>A ENST00000278550.7 - 32 6787 c.6325C>T c.(6325-6327)Cgc>Tgc p.R2109C NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TCATCATAGCGATAGAGATCA 0.488000 15 22 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166903469 166903469 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:166903469C>T ENST00000423058.2 - 9 1205 c.1188G>A c.(1186-1188)ggG>ggA p.G396G SCN1A_ENST00000303395.4_Silent_p.G396G|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.G396G|SCN1A_ENST00000375405.3_Silent_p.G396G NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 396 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) TGTACGTTTTCCCAGCAGCAC 0.373000 47 151 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5020354 5020354 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:5020354C>T ENST00000321543.1 + 1 142 c.142C>T c.(142-144)Ctg>Ttg p.L48L NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTTACCATCCTGTCTGTCAT 0.438000 59 130 0 0 1 0 0 SQSTM1 8878 broad.mit.edu 37 5 179252214 179252214 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:179252214C>T ENST00000389805.4 + 5 920 c.742C>T c.(742-744)Ctt>Ttt p.L248F SQSTM1_ENST00000360718.5_Missense_Mutation_p.L164F|SQSTM1_ENST00000510187.1_Missense_Mutation_p.L248F|SQSTM1_ENST00000402874.3_Missense_Mutation_p.L164F|SQSTM1_ENST00000376929.3_Missense_Mutation_p.L164F NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 248 anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCAGCTGCCCTTAGCCCTCT 0.468000 41 61 0 0 1 0 0 UST 10090 broad.mit.edu 37 6 149395162 149395162 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr6:149395162C>T ENST00000367463.4 + 8 1234 c.1131C>T c.(1129-1131)ttC>ttT p.F377F UST_ENST00000466695.1_3'UTR NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 377 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) GGCCACACTTCTTTATCCCAA 0.483000 46 8 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41819264 41819264 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:41819264G>A ENST00000304330.4 - 14 1865 c.1749C>T c.(1747-1749)gtC>gtT p.V583V RPAP1_ENST00000561603.1_Silent_p.V583V NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 583 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGCACTCCAGGACCTATGGGA 0.547000 38 58 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 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 77 69 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30977066 30977066 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr16:30977066C>T ENST00000262519.8 + 8 2550 c.1864C>T c.(1864-1866)Cct>Tct p.P622S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 622 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GGCGTCCCTTCCTCTTGGTTA 0.731000 7 12 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 51 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22199562 22199562 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:22199562G>A ENST00000374695.3 - 31 3895 c.3816C>T c.(3814-3816)ccC>ccT p.P1272P NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1272 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) TGCAGCCTATGGGCCCTGGCA 0.637000 34 50 0 0 1 0 0 HTR7P1 93164 broad.mit.edu 37 12 13155340 13155340 + RNA SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr12:13155340C>T ENST00000543321.1 + 0 31 HTR7P1_ENST00000535469.1_RNA GTGTGCAAACCTTTCGAGACT 0.512000 3 20 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4074018 4074018 + Nonsense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:4074018G>A ENST00000341657.4 - 23 3312 c.3277C>T c.(3277-3279)Cga>Tga p.R1093* ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.R1135*|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.R1094* NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 1093 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CCCAGCAGTCGGAACAGGAGC 0.567000 63 36 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541535 40541535 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:40541535G>A ENST00000434248.1 - 5 1296 c.1231C>T c.(1231-1233)Cat>Tat p.H411Y ZNF780B_ENST00000221355.6_Missense_Mutation_p.H263Y NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 411 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) ACATCAGCATGAATACTCTGG 0.358000 74 100 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35774065 35774065 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:35774065G>A ENST00000440995.2 + 28 4005 c.4005G>A c.(4003-4005)agG>agA p.R1335R CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.R1340R Q9C093 SPEF2_HUMAN sperm flagellar 2 1340 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAATCAAAAGGAAAAATGAAC 0.388000 31 43 0 0 1 0 0 IMPA2 3613 broad.mit.edu 37 18 12014272 12014272 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr18:12014272C>T ENST00000269159.3 + 5 632 c.390C>T c.(388-390)ttC>ttT p.F130F IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 130 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) AGCTTGAATTCGGAGTGATTT 0.567000 16 21 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150649873 150649873 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:150649873G>A ENST00000392968.2 - 4 2029 c.909C>T c.(907-909)acC>acT p.T303T KCNH2_ENST00000330883.4_Silent_p.T59T|KCNH2_ENST00000430723.3_Silent_p.T399T|KCNH2_ENST00000262186.5_Silent_p.T399T Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 399 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) AATGCAGGATGGTCCAGCGGT 0.647000 104 83 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55964674 55964674 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:55964674G>A ENST00000389286.4 - 11 2057 c.2010C>T c.(2008-2010)acC>acT p.T670T NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 670 Fibronectin type-III 3. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GTAGGTCCTTGGTATCCAAGA 0.458000 33 68 0 0 1 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829652 106829652 + RNA SNP A A G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:106829652A>G ENST00000390616.2 - 0 341 CTTCAGGGAGAACTGGTTCTT 0.537000 243 201 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22855063 22855063 + Missense_Mutation SNP G G T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:22855063G>T ENST00000283645.4 + 13 1654 c.1524G>T c.(1522-1524)tgG>tgT p.W508C TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.W508C NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 508 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 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;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GAGACTTCTGGTATGCAACTT 0.358000 29 47 1.13719e-10 1.17402e-10 1 1 0 OR52J3 119679 broad.mit.edu 37 11 5068032 5068032 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:5068032G>A ENST00000380370.1 + 1 277 c.277G>A c.(277-279)Gag>Aag p.E93K NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E93K(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TGATGCTCACGAGATTAACTA 0.488000 36 42 0 0 1 0 0 NCK1 4690 broad.mit.edu 37 3 136664754 136664754 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr3:136664754C>T ENST00000469404.1 + 2 455 c.364C>T c.(364-366)Cta>Tta p.L122L NCK1_ENST00000481752.1_Silent_p.L186L|NCK1_ENST00000288986.2_Silent_p.L186L NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 186 SH3 2. axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 CGTCAATAACCTAAATACTGG 0.423000 166 33 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40055519 40055519 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr22:40055519C>T ENST00000336649.4 + 16 2430 c.2430C>T c.(2428-2430)ttC>ttT p.F810F CACNA1I_ENST00000401624.1_Silent_p.F804F|CACNA1I_ENST00000407673.1_Silent_p.F769F|CACNA1I_ENST00000402142.3_Silent_p.F804F|CACNA1I_ENST00000404898.1_Silent_p.F769F|CACNA1I_ENST00000400164.3_Silent_p.F769F Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 804 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGAAGAACTTCGACTCCCTGC 0.587000 15 15 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060676 35060676 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr20:35060676G>A ENST00000373913.3 + 3 1036 c.556G>A c.(556-558)Gag>Aag p.E186K DLGAP4_ENST00000401952.2_Missense_Mutation_p.E186K|DLGAP4_ENST00000373907.2_Missense_Mutation_p.E186K|DLGAP4_ENST00000339266.5_Missense_Mutation_p.E186K Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 186 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CAAAAGCAAGGAGCGGGCCAA 0.672000 30 70 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22846828 22846828 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:22846828G>A ENST00000456783.2 + 4 601 c.357G>A c.(355-357)gtG>gtA p.V119V NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ACAAATATGTGAAAGTCTTTC 0.323000 15 14 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18443873 18443873 + Silent SNP C C G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr12:18443873C>G ENST00000433979.1 + 4 962 c.846C>G c.(844-846)ctC>ctG p.L282L PIK3C2G_ENST00000535651.1_Silent_p.L282L|PIK3C2G_ENST00000266497.5_Silent_p.L282L|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000538779.1_Silent_p.L282L NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 282 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CGTATCAGCTCTTTTCTAAGA 0.338000 12 27 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158826964 158826964 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:158826964C>T ENST00000262178.2 - 10 1096 c.911G>A c.(910-912)cGa>cAa p.R304Q VIPR2_ENST00000377633.3_Missense_Mutation_p.R288Q|VIPR2_ENST00000402066.1_Missense_Mutation_p.R445Q NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 304 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CAGCAAAATTCGTATAATACT 0.473000 35 29 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179609153 179609153 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:179609153G>A ENST00000444136.1 + 10 1950 c.1700G>A c.(1699-1701)gGa>gAa p.G567E TDRD5_ENST00000367614.1_Missense_Mutation_p.G567E|TDRD5_ENST00000294848.8_Missense_Mutation_p.G567E NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 567 Tudor. 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 GGAAATATTGGAATTGTTCAG 0.403000 80 129 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16965046 16965046 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:16965046C>T ENST00000379803.1 + 8 1046 c.1032C>T c.(1030-1032)ctC>ctT p.L344L SIN3B_ENST00000596802.1_Silent_p.L344L|SIN3B_ENST00000248054.5_Silent_p.L344L NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 344 Interaction with NCOR1 (By similarity).|PAH 3. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GCTCTGAGCTCCTGCAGCTCG 0.567000 33 32 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30722126 30722126 + Missense_Mutation SNP C C A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr16:30722126C>A ENST00000262518.4 + 9 1571 c.1186C>A c.(1186-1188)Cca>Aca p.P396T SRCAP_ENST00000395059.2_Missense_Mutation_p.P396T|SRCAP_ENST00000344771.4_Missense_Mutation_p.P396T NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 396 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCCTTGGCATCCAGATGAAGA 0.483000 20 35 0.000175454 0.00017825 1 1 0 SORCS3 22986 broad.mit.edu 37 10 107016665 107016665 + Silent SNP G G A rs75048624 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr10:107016665G>A ENST00000369701.3 + 25 3653 c.3426G>A c.(3424-3426)ttG>ttA p.L1142L NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1142 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) CTGTGTTTTTGATCTACAAGT 0.413000 35 7 0 0 1 0 0 SLC16A3 9123 broad.mit.edu 37 17 80195274 80195274 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:80195274C>T ENST00000581287.1 + 3 2950 c.628C>T c.(628-630)Ccg>Tcg p.P210S SLC16A3_ENST00000392341.1_Missense_Mutation_p.P210S|SLC16A3_ENST00000582743.1_Missense_Mutation_p.P210S|SLC16A3_ENST00000392339.1_Missense_Mutation_p.P210S NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 210 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) GGGCTCGGGGCCGCCGCGACC 0.716000 4 19 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48369204 48369204 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr12:48369204G>A ENST00000380518.3 - 51 3946 c.3782C>T c.(3781-3783)tCc>tTc p.S1261F COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.S1192F NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1261 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GTTGTTGAGGGACTTGAGTGT 0.642000 4 106 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829338 146829338 + Splice_Site SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:146829338G>A ENST00000361727.3 + 8 1601 c.1083_splice c.e8-1 p.G362_splice NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 362 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.G362E(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATTTTACAGGGAAATTTGAGC 0.433000 HNSCC(39;0.1) 107 78 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 102 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711466 195711466 + RNA SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr3:195711466G>A ENST00000427841.1 - 0 481 NR_003264.2 GCCCATCACCGCGACCATGGC 0.582000 13 64 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50100852 50100852 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:50100852C>T ENST00000418929.2 + 4 3272 c.3260C>T c.(3259-3261)cCc>cTc p.P1087L NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 266 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) CGCGACCCACCCTTCCAGACC 0.642000 5 7 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 49 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89135611 89135611 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:89135611G>A ENST00000535633.1 - 9 967 c.657C>T c.(655-657)ttC>ttT p.F219F NOX4_ENST00000534731.1_Silent_p.F243F|NOX4_ENST00000527626.1_Silent_p.F77F|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Silent_p.F219F|NOX4_ENST00000413594.2_Silent_p.F264F|NOX4_ENST00000343727.5_Silent_p.F219F|NOX4_ENST00000263317.4_Silent_p.F243F|NOX4_ENST00000528341.1_Silent_p.F218F|NOX4_ENST00000424319.1_Silent_p.F219F|NOX4_ENST00000527956.1_Silent_p.F219F|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Silent_p.F219F NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 243 Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AATGTTCTGAGAAATACTCTG 0.433000 75 87 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151131076 151131076 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chrX:151131076C>T ENST00000370325.1 - 4 435 c.382G>A c.(382-384)Gac>Aac p.D128N GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.D128N P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 128 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGGCGTTCGTCGTACCAGGTC 0.463000 55 7 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894146 123894146 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:123894146C>T ENST00000375024.1 + 1 427 c.427C>T c.(427-429)Ctg>Ttg p.L143L NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ATGTGCCCTCCTGGCCACCAG 0.537000 63 78 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43373109 43373109 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:43373109C>T ENST00000244296.2 - 4 924 c.787G>A c.(787-789)Gaa>Aaa p.E263K PSG1_ENST00000403380.3_Missense_Mutation_p.E170K|PSG1_ENST00000312439.6_Missense_Mutation_p.E263K|PSG1_ENST00000595356.1_Missense_Mutation_p.E263K|PSG1_ENST00000595124.1_Missense_Mutation_p.E170K|PSG1_ENST00000436291.2_Missense_Mutation_p.E263K 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) CTCTTAGGTTCACAGGTGAAG 0.478000 117 176 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393588 145393588 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:145393588G>A ENST00000511217.1 + 4 1075 c.1023G>A c.(1021-1023)atG>atA p.M341I SH3RF2_ENST00000359120.4_Missense_Mutation_p.M341I Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 341 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCAGCCCATGGAGAAAGCAG 0.552000 83 112 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074504 76074504 + RNA SNP C C T rs146281026 by1000genomes TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:76074504C>T ENST00000395215.3 + 0 683 TGAACGCACACGTGACACAGG 0.572000 4 50 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67680875 67680875 + Splice_Site SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr16:67680875C>T ENST00000334583.6 + 8 938 c.611_splice c.e8+1 p.R204_splice RLTPR_ENST00000545661.1_Splice_Site_p.R204_splice NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 204 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CCTCGGCAGTCGGTGTGTGGC 0.627000 14 18 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140732008 140732008 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:140732008C>T ENST00000523390.1 + 1 2181 c.2181C>T c.(2179-2181)ctC>ctT p.L727L PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACCGGTCTCTGCTCCAAGT 0.562000 65 100 0 0 1 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14629 14629 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chrM:14629C>T ENST00000361681.2 - 1 44 c.45G>A c.(43-45)ggG>ggA p.G15G mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 AACCCCACAAACCCCATTACT 0.418000 14 82 0 0 1 0 0 TCEB3 6924 broad.mit.edu 37 1 24078489 24078489 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:24078489C>T ENST00000418390.2 + 4 1743 c.1472C>T c.(1471-1473)cCg>cTg p.P491L NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 491 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TCAGAGAAGCCGGCTGGAGCT 0.488000 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 72 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149427422 149427422 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:149427422C>T ENST00000255992.10 + 15 2392 c.1993C>T c.(1993-1995)Ctc>Ttc p.L665F KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.L605F|KRBA1_ENST00000485033.2_Missense_Mutation_p.L605F NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 666 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGGAAGCCGCTCCCCCAGGG 0.657000 3 6 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48921776 48921776 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr12:48921776G>A ENST00000310194.1 + 2 970 c.970G>A c.(970-972)Gaa>Aaa p.E324K OR8S1_ENST00000551654.1_3'UTR NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AGCCTTCACCGAAGGCCGCAG 0.647000 4 42 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56949644 56949644 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:56949644G>A ENST00000497933.1 + 1 424 c.277G>A c.(277-279)Gat>Aat p.D93N NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 63 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CCAGGTGGTGGATTGTAGCAG 0.627000 36 48 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152660443 152660443 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr6:152660443G>A ENST00000367255.5 - 75 12885 c.12284C>T c.(12283-12285)tCc>tTc p.S4095F SYNE1_ENST00000265368.4_Missense_Mutation_p.S4095F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4024F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4024F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S3960F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4095 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 p.S4095F(2) 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) GTCACACATGGAGCAAAGGAG 0.413000 HNSCC(10;0.0054) 36 9 0 0 1 0 0 ALDH1A3 220 broad.mit.edu 37 15 101434200 101434200 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:101434200C>T ENST00000329841.5 + 6 1111 c.579C>T c.(577-579)ccC>ccT p.P193P RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 193 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) AGCTGGCACCCGCCCTCTGCT 0.592000 156 123 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692793 135692793 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:135692793C>T ENST00000513104.1 - 2 565 c.283G>A c.(283-285)Gag>Aag p.E95K TRPC7_ENST00000426057.2_Missense_Mutation_p.E95K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E95K NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 95 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) AGCAGCAGCTCCGTGACCTCT 0.602000 41 78 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579795 82579795 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:82579795C>T ENST00000423517.2 - 6 10446 c.10109G>A c.(10108-10110)aGc>aAc p.S3370N PCLO_ENST00000437081.1_Missense_Mutation_p.S90N|PCLO_ENST00000333891.8_Missense_Mutation_p.S3370N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3301 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 CCATCCTTGGCTTTGTGGTAT 0.463000 18 52 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900682 51900682 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:51900682C>T ENST00000268919.4 + 1 444 c.288C>T c.(286-288)tcC>tcT p.S96S NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 96 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CGCCCTTATCCCCCTTGGCTC 0.577000 278 130 0 0 1 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032136 46032136 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr21:46032136C>T ENST00000334662.2 + 1 141 c.119C>T c.(118-120)tCc>tTc p.S40F TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 40 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 ACTGGCTCCTCCTGGCAGGTG 0.642000 51 72 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51772841 51772841 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:51772841G>A ENST00000251076.5 - 24 6749 c.6462C>T c.(6460-6462)ctC>ctT p.L2154L RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.L2154L|DMXL2_ENST00000449909.3_Silent_p.L1518L NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2154 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATACTCTCAGGAGATCTTGGT 0.448000 62 83 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767984 31767984 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:31767984G>A ENST00000240587.4 - 2 3042 c.2715C>T c.(2713-2715)atC>atT p.I905I NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 905 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GGGCCTGGAGGATCAGGAGGT 0.622000 19 37 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553887 140553887 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:140553887C>T ENST00000231137.3 + 1 1645 c.1471C>T c.(1471-1473)Ctg>Ttg p.L491L NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 491 Cadherin 5. 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) CTACTCCCTGCTGCCGTCCCA 0.657000 85 132 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52570118 52570118 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr20:52570118C>T ENST00000395961.3 - 11 1699 c.1533G>A c.(1531-1533)aaG>aaA p.K511K BCAS1_ENST00000371440.3_Silent_p.K520K|BCAS1_ENST00000434986.2_Silent_p.K177K|BCAS1_ENST00000371435.2_Silent_p.K433K NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 511 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TGCTCTTCTGCTTGTTCATCT 0.537000 86 100 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9101918 9101918 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr3:9101918G>A ENST00000383836.3 - 6 1225 c.798C>T c.(796-798)atC>atT p.I266I SRGAP3_ENST00000360413.3_Silent_p.I266I|SRGAP3_ENST00000433332.3_5'UTR NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 266 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AGCTCACATCGATCAGATCAG 0.537000 T RAF1 pilocytic astrocytoma 85 15 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81230306 81230306 + Nonsense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:81230306G>A ENST00000394685.3 + 25 3812 c.3393G>A c.(3391-3393)tgG>tgA p.W1131* KIAA1199_ENST00000356249.5_Nonsense_Mutation_p.W1131*|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Nonsense_Mutation_p.W1131* Q8WUJ3 K1199_HUMAN KIAA1199 1131 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 ACTACTACTGGGACGAGGACT 0.562000 21 34 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92470126 92470126 + Silent SNP T T A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:92470126T>A ENST00000267622.4 - 11 4567 c.4194A>T c.(4192-4194)ctA>ctT p.L1398L NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1398 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GTTTCTCCTTTAGCTGCTTGA 0.368000 T PDGFRB AML 98 76 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145103916 145103916 + RNA SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:145103916G>A ENST00000453618.1 + 0 411 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGTCTGGCCGGGACCTTCAAC 0.418000 7 33 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103155821 103155821 + Missense_Mutation SNP T T C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:103155821T>C ENST00000424685.2 - 50 8089 c.7930A>G c.(7930-7932)Aga>Gga p.R2644G RELN_ENST00000343529.5_Missense_Mutation_p.R2644G|RELN_ENST00000428762.1_Missense_Mutation_p.R2644G P78509 RELN_HUMAN reelin 2644 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCGTCATGTCTTGGCTGCCAC 0.527000 19 47 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782587 134782587 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:134782587C>T ENST00000503143.2 - 1 451 c.212G>A c.(211-213)gGg>gAg p.G71E TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 71 nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTGTTCCTCCCTGGAGGGTA 0.602000 16 40 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19746240 19746240 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:19746240C>T ENST00000203556.4 - 15 1681 c.1544G>A c.(1543-1545)gGg>gAg p.G515E GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.G486E|GMIP_ENST00000587238.1_Missense_Mutation_p.G489E NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 515 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 ACACTCCGTCCCGCTGACCAT 0.612000 4 113 0 0 1 0 0 NTN1 9423 broad.mit.edu 37 17 8926597 8926597 + Missense_Mutation SNP G G C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:8926597G>C ENST00000173229.2 + 2 1014 c.907G>C c.(907-909)Gtg>Ctg p.V303L NTN1_ENST00000546090.1_Missense_Mutation_p.V303L|NTN1_ENST00000538852.1_Missense_Mutation_p.V303L NM_004822.2 NP_004813.2 O95631 NET1_HUMAN netrin 1 303 Laminin EGF-like 1. apoptosis|axon guidance protein binding NTN1/ACLY(2) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5) 13 CGACAGCCTGGTGTGCGACTG 0.716000 3 5 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85382242 85382242 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:85382242G>A ENST00000258888.5 + 4 1109 c.942G>A c.(940-942)aaG>aaA p.K314K NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 314 Ig-like 1. 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) CCTGGTACAAGGATGATACGG 0.547000 21 37 0 0 1 0 0 LOX 4015 broad.mit.edu 37 5 121409712 121409712 + Missense_Mutation SNP G G T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:121409712G>T ENST00000231004.4 - 4 1330 c.1031C>A c.(1030-1032)aCa>aAa p.T344K LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 344 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) ACATACCTGTGTGTGTGCAGT 0.473000 90 133 4.66267e-56 4.99572e-56 1 1 0 RBM25 58517 broad.mit.edu 37 14 73538381 73538381 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:73538381C>T ENST00000261973.7 + 2 317 c.32C>T c.(31-33)cCc>cTc p.P11L RBM25_ENST00000527432.1_Missense_Mutation_p.P11L|RBM25_ENST00000526754.1_Missense_Mutation_p.P11L|RBM25_ENST00000525321.1_Missense_Mutation_p.P11L|RBM25_ENST00000540173.1_Missense_Mutation_p.P11L NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 11 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) AATCGCCCTCCCATGGGAATC 0.433000 37 83 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247811 56247811 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:56247811C>T ENST00000545221.1 + 1 795 c.795C>T c.(793-795)ttC>ttT p.F265F NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 265 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 TCACTCCATTCCCTATGGACA 0.537000 209 82 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 7006646 7006646 + Missense_Mutation SNP A A G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:7006646A>G ENST00000409757.4 + 8 1470 c.1346A>G c.(1345-1347)aAc>aGc p.N449S TBC1D14_ENST00000410031.1_Missense_Mutation_p.N221S|TBC1D14_ENST00000446947.2_Missense_Mutation_p.N62S|TBC1D14_ENST00000451522.2_Missense_Mutation_p.N169S|TBC1D14_ENST00000448507.1_Missense_Mutation_p.N449S NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 449 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 GAAGTGGAGAACGAAGGTAGA 0.458000 32 10 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206364631 206364631 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:206364631C>T ENST00000406610.2 + 21 3263 c.3056C>T c.(3055-3057)aCg>aTg p.T1019M PARD3B_ENST00000358768.2_Missense_Mutation_p.T957M|PARD3B_ENST00000351153.1_Missense_Mutation_p.T950M|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000349953.3_Missense_Mutation_p.T918M NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 1019 cell cycle|cell division endomembrane system|tight junction p.T958M(1) breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GGCCGTCCTACGGGTGGAAGC 0.438000 72 164 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7219620 7219620 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:7219620G>A ENST00000399464.2 - 29 4526 c.4511C>T c.(4510-4512)aCg>aTg p.T1504M NEURL4_ENST00000570460.1_Missense_Mutation_p.T1480M|NEURL4_ENST00000315614.7_Missense_Mutation_p.T1502M|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.R318C NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGCCTGGTGCGTCCGCTGGGA 0.607000 56 35 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47423714 47423714 + Silent SNP C C A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr21:47423714C>A ENST00000361866.3 + 35 2988 c.2874C>A c.(2872-2874)gcC>gcA p.A958A COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 958 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TCGAGAAGGCCGTGCAGGAAG 0.672000 31 40 2.61193e-14 2.71854e-14 1 1 0 OR52I2 143502 broad.mit.edu 37 11 4608253 4608253 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:4608253G>A ENST00000312614.4 + 1 233 c.211G>A c.(211-213)Gga>Aga p.G71R NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCCCTGTTAGGAAACACCAT 0.502000 21 204 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55944921 55944921 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr10:55944921C>T ENST00000373965.2 - 13 1828 c.1434G>A c.(1432-1434)agG>agA p.R478R PCDH15_ENST00000409834.1_Silent_p.R82R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.R478R|PCDH15_ENST00000395432.2_Silent_p.R434R|PCDH15_ENST00000414778.1_Silent_p.R476R|PCDH15_ENST00000395446.1_Silent_p.R471R|PCDH15_ENST00000395430.1_Silent_p.R471R|PCDH15_ENST00000361849.3_Silent_p.R471R|PCDH15_ENST00000395433.1_Silent_p.R449R|PCDH15_ENST00000373957.3_Silent_p.R449R|PCDH15_ENST00000373955.1_Silent_p.R471R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R471R|PCDH15_ENST00000395438.1_Silent_p.R471R|PCDH15_ENST00000320301.6_Silent_p.R471R NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 471 Cadherin 4. 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) GCTGTTCTTCCCTGTCCACTG 0.398000 HNSCC(58;0.16) 79 13 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47777871 47777871 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr18:47777871C>T ENST00000398545.4 - 4 874 c.757G>A c.(757-759)Gaa>Aaa p.E253K NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 253 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) GCCTCCTCTTCCTTCAGCAGC 0.537000 45 70 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157497529 157497529 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:157497529G>A ENST00000361835.3 - 9 1995 c.1838C>T c.(1837-1839)cCc>cTc p.P613L FCRL5_ENST00000356953.4_Missense_Mutation_p.P613L|FCRL5_ENST00000368190.3_Missense_Mutation_p.P613L|FCRL5_ENST00000368191.3_Missense_Mutation_p.P528L NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 613 Ig-like C2-type 6. 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) TCCTCCAGAGGGGGCTGAGCT 0.562000 69 102 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296501 20296501 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:20296501G>A ENST00000315947.1 + 1 894 c.894G>A c.(892-894)atG>atA p.M298I OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGCTTCCATGAAAAAGGTGT 0.353000 20 148 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29610484 29610484 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:29610484G>A ENST00000373779.3 + 13 2304 c.2175G>A c.(2173-2175)agG>agA p.R725R PTPRU_ENST00000428026.2_Silent_p.R725R|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.R725R|PTPRU_ENST00000323874.8_Silent_p.R725R|PTPRU_ENST00000356870.3_Silent_p.R725R|PTPRU_ENST00000460170.2_Silent_p.R725R NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 725 canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GCATTGCCAGGAAAGGTAAGT 0.622000 84 109 0 0 1 0 0 FAM86EP 348926 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 3 41 0.000602214 0.000606975 1 1 0 ATP1A2 477 broad.mit.edu 37 1 160104995 160104995 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:160104995C>T ENST00000361216.3 + 15 2114 c.2025C>T c.(2023-2025)ctC>ctT p.L675L ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L675L NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 675 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGGAGCAGCTCGATGAGATCC 0.577000 34 54 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47285799 47285799 + Missense_Mutation SNP A A T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:47285799A>T ENST00000542575.2 - 4 1293 c.665T>A c.(664-666)gTg>gAg p.V222E SLC1A5_ENST00000434726.2_Missense_Mutation_p.V20E|SLC1A5_ENST00000594991.1_Missense_Mutation_p.V46E|SLC1A5_ENST00000412532.2_5'UTR NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 222 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CTCCTGCCCCACGGGCACCTG 0.617000 51 61 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 95947821 95947821 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr9:95947821G>A ENST00000297954.4 + 1 610 c.610G>A c.(610-612)Ggt>Agt p.G204S WNK2_ENST00000395477.2_Missense_Mutation_p.G204S|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.G190S Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 204 Protein kinase. 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 GCTGGGCCGCGGTTCCTTCAA 0.667000 29 7 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497486 1497486 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:1497486C>T ENST00000421627.2 + 2 761 c.627C>T c.(625-627)ccC>ccT p.P209P NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 288 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) AGGGCAAGCCCCGGCCCGGCA 0.701000 27 7 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103230239 103230239 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:103230239C>T ENST00000424685.2 - 28 4108 c.3949G>A c.(3949-3951)Gct>Act p.A1317T RELN_ENST00000343529.5_Missense_Mutation_p.A1317T|RELN_ENST00000428762.1_Missense_Mutation_p.A1317T P78509 RELN_HUMAN reelin 1317 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGAACTGGAGCAGTACTGCTG 0.418000 21 106 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237200 56237200 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:56237200G>A ENST00000312240.2 - 1 814 c.774C>T c.(772-774)ctC>ctT p.L258L NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TGGGACGTCTGAGATACATGA 0.493000 27 27 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529147 57529147 + Missense_Mutation SNP A A G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:57529147A>G ENST00000420713.1 + 4 1092 c.980A>G c.(979-981)gAa>gGa p.E327G NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TACAAATGTGAAGAATGTGGC 0.418000 37 39 0 0 1 0 0 ALG11 440138 broad.mit.edu 37 13 52598334 52598334 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr13:52598334C>T ENST00000521508.1 + 3 473 c.468C>T c.(466-468)tcC>tcT p.S156S ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR NM_001004127.2 NP_001004127.2 ALG11, alpha-1,2-mannosyltransferase endometrium(1)|large_intestine(6)|lung(4)|ovary(2) 13 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.44e-08) GTCTAGGATCCATTTTTCTTG 0.413000 63 97 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4615401 4615401 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:4615401G>A ENST00000450052.2 + 2 205 c.205G>A c.(205-207)Gga>Aga p.G69R OR52I1_ENST00000530443.2_Missense_Mutation_p.G45R Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCCCTGTTAGGAAACACCCT 0.512000 75 95 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763832 77763832 + Missense_Mutation SNP C C G TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:77763832C>G ENST00000521891.2 + 10 5123 c.4675C>G c.(4675-4677)Cac>Gac p.H1559D ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1533D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1514D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1514D NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1514 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) TCTCTTGGTCCACTATAATTC 0.403000 HNSCC(33;0.089) 24 28 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28818191 28818191 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:28818191C>T ENST00000373839.3 + 12 2169 c.1908C>T c.(1906-1908)ctC>ctT p.L636L PHACTR4_ENST00000373836.3_Silent_p.L646L|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 636 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTGAACTCCTTGCCAGGA 0.463000 59 67 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138451538 138451538 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:138451538C>T ENST00000344876.4 - 1 2091 c.1705G>A c.(1705-1707)Gaa>Aaa p.E569K PCDH18_ENST00000412923.2_Missense_Mutation_p.E569K|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E349K|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 569 Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TTGTCATTTTCGTCAATGATG 0.458000 115 153 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037960 75037960 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:75037960C>T ENST00000326665.5 - 14 3652 c.3434G>A c.(3433-3435)gGa>gAa p.G1145E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1145 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGAATCTTCTCCTAGAAGCCC 0.463000 57 64 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52283781 52283781 + Silent SNP G G A rs139339992 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:52283781G>A ENST00000354831.7 - 12 1711 c.1522C>T c.(1522-1524)Ctg>Ttg p.L508L NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.L440L|NRD1_ENST00000544028.1_Silent_p.L308L|NRD1_ENST00000539524.1_Silent_p.L376L NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 439 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 GTGATGGTCAGAGCATGAATT 0.323000 18 20 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31345759 31345759 + Missense_Mutation SNP T T A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr22:31345759T>A ENST00000215862.4 - 6 1473 c.110A>T c.(109-111)cAg>cTg p.Q37L MORC2_ENST00000397641.2_Missense_Mutation_p.Q99L NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 99 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 ATTCCCGTACTGCCCAATCTG 0.463000 62 125 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 970681 970681 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:970681C>T ENST00000379370.2 + 3 538 c.488C>T c.(487-489)cCa>cTa p.P163L AGRN_ENST00000477585.1_3'UTR NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 163 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) CACTTCACTCCAGTGCCTCCG 0.597000 63 133 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 4 165 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55944920 55944920 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr10:55944920C>T ENST00000373965.2 - 13 1829 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K PCDH15_ENST00000409834.1_Missense_Mutation_p.E83K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E479K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E435K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E477K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E472K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E472K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E472K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E450K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E450K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E472K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E472K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E472K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E472K NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 472 Cadherin 4. 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) TGCTGTTCTTCCCTGTCCACT 0.403000 HNSCC(58;0.16) 80 13 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104730540 104730540 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:104730540C>T ENST00000334877.4 + 14 1977 c.1443C>T c.(1441-1443)atC>atT p.I481I KMT2E_ENST00000257745.4_Silent_p.I481I|KMT2E_ENST00000476671.1_Silent_p.I481I|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Silent_p.I481I lysine (K)-specific methyltransferase 2E TGGAAAATATCAATAGTGGTT 0.358000 88 184 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886708 123886708 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr11:123886708C>T ENST00000320891.4 + 1 427 c.427C>T c.(427-429)Ctg>Ttg p.L143L NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTGTGCCCTCCTGGCCACCGG 0.547000 13 289 0 0 1 0 0 IFNA10 3446 broad.mit.edu 37 9 21206918 21206918 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr9:21206918C>T ENST00000357374.2 - 1 224 c.179G>A c.(178-180)cGa>cAa p.R60Q NM_002171.1 NP_002162.1 P01566 IFN10_HUMAN interferon, alpha 10 60 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) CTGGGGGATTCGGAAATCATG 0.517000 5 227 0 0 1 0 0 KRT19P2 160313 broad.mit.edu 37 12 95228418 95228418 + RNA SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr12:95228418G>A ENST00000405395.2 + 0 189 NR_036685.1 GCATGAGGAGGAAATCAATGC 0.557000 17 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9024984 9024984 + Missense_Mutation SNP C C A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:9024984C>A ENST00000397910.4 - 16 37081 c.36878G>T c.(36877-36879)gGg>gTg p.G12293V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12295 SEA 2. 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 AGTGGCTGCCCCATCTTTCTC 0.552000 36 58 2.20474e-14 2.30413e-14 1 1 0 TTN 7273 broad.mit.edu 37 2 179481253 179481253 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:179481253C>T ENST00000589042.1 - 257 48489 c.48265G>A c.(48265-48267)Gga>Aga p.G16089R TTN_ENST00000460472.2_Missense_Mutation_p.G7024R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G14448R|TTN_ENST00000359218.5_Missense_Mutation_p.G7149R|TTN_ENST00000342992.6_Missense_Mutation_p.G13521R|TTN_ENST00000342175.6_Missense_Mutation_p.G7216R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14448 Ig-like 99. 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) ACAACGTATCCAGTTAACGGA 0.433000 51 165 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518217 113518217 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:113518217G>A ENST00000284601.3 - 4 2998 c.2930C>T c.(2929-2931)tCc>tTc p.S977F NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 977 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 TGAACTTCTGGAAACTTCTTC 0.378000 47 125 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 167962652 167962652 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:167962652C>T ENST00000367840.3 + 7 971 c.877C>T c.(877-879)Cct>Tct p.P293S DCAF6_ENST00000432587.2_Missense_Mutation_p.P262S|DCAF6_ENST00000367843.3_Missense_Mutation_p.P293S|DCAF6_ENST00000312263.6_Missense_Mutation_p.P293S NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 293 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 ACTTAAAACTCCTTCTGCGGA 0.468000 44 49 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389265 1389265 + Silent SNP T T C rs71299249 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:1389265T>C ENST00000324803.4 + 1 3926 c.966T>C c.(964-966)gcT>gcC p.A322A NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 322 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCCGCCTGCTCACACGTGCC 0.672000 4 264 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22942219 22942219 + Splice_Site SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:22942219C>T ENST00000397104.3 - 4 554 c.555_splice c.e4+1 p.K185_splice ZNF99_ENST00000596209.1_Silent_p.K164K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTGTCTAATCTTATATCTAT 0.269000 10 6 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76965171 76965171 + Missense_Mutation SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:76965171C>T ENST00000261532.7 + 8 1471 c.1399C>T c.(1399-1401)Ccc>Tcc p.P467S ESRRB_ENST00000509242.1_Intron|ESRRB_ENST00000380887.2_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 0 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) TTTCCTAACTCCCTTGCCCCC 0.632000 14 33 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15636311 15636311 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr19:15636311G>A ENST00000269703.2 + 3 363 c.164G>A c.(163-165)cGg>cAg p.R55Q CYP4F22_ENST00000601005.2_Missense_Mutation_p.R55Q NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 55 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 ACCTGCCGCCGGCTGCGCTGC 0.667000 31 56 0 0 1 0 0 ADRA1B 147 broad.mit.edu 37 5 159344455 159344455 + Silent SNP C C T TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:159344455C>T ENST00000306675.3 + 1 666 c.543C>T c.(541-543)ctC>ctT p.L181L NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 181 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) TCGGGCCTCTCCTTGGGTGGA 0.602000 37 42 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169938347 169938347 + Missense_Mutation SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:169938347G>A ENST00000327239.4 + 5 1760 c.256G>A c.(256-258)Gac>Aac p.D86N DHRS9_ENST00000602501.1_Missense_Mutation_p.D86N|DHRS9_ENST00000436483.2_Missense_Mutation_p.D86N|DHRS9_ENST00000432060.2_Missense_Mutation_p.D146N|DHRS9_ENST00000428522.1_Missense_Mutation_p.D86N|DHRS9_ENST00000357546.2_Missense_Mutation_p.D86N|DHRS9_ENST00000412271.1_Missense_Mutation_p.D86N|DHRS9_ENST00000421653.1_5'UTR NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 86 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GGATGTGACCGACCCAGAGAA 0.507000 59 37 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56572812 56572812 + Silent SNP G G A TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr12:56572812G>A ENST00000394023.3 - 12 1215 c.1110C>T c.(1108-1110)gcC>gcT p.A370A SMARCC2_ENST00000267064.4_Silent_p.A370A|SMARCC2_ENST00000550164.1_Silent_p.A370A|SMARCC2_ENST00000347471.4_Silent_p.A370A|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 370 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CTTTGACTGGGGCCGACTCTG 0.512000 63 18 0 0 1 0 0 SRGAP2B 647135 broad.mit.edu 37 1 144015779 144015780 + RNA DEL AC AC - rs57828590 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:144015779_144015780delAC ENST00000467933.1 + 0 1108 ctccagtcctactataacaaga 0.406 3 5 --- --- --- --- RORC 6097 broad.mit.edu 37 1 151780064 151780064 + Frame_Shift_Del DEL C C - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:151780064delC ENST00000356728.6 - 10 1532 c.1378delG c.(1378-1380)aafs p.E460fs RORC_ENST00000480719.1_5'UTR|RORC_ENST00000318247.6_Frame_Shift_Del_p.E481fs|RORC_ENST00000392697.3_Frame_Shift_Del_p.E535fs NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 481 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCAGCCTTTCCACATGCTGG 0.562 38 41 --- --- --- --- LINC01341 149134 broad.mit.edu 37 1 246953503 246953503 + RNA DEL A A - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:246953503delA ENST00000421003.1 + 0 1521 CCAAATGGGGAGCGGCCAATC 0.637 2 4 --- --- --- --- RP11-634B7.4 0 broad.mit.edu 37 1 247903035 247903036 + RNA INS - - T rs35382545 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr1:247903035_247903036insT ENST00000449298.1 + 0 681 AATTTTTGCACttttttttttt 0.381 3 4 --- --- --- --- LINC01248 102723818 broad.mit.edu 37 2 5802461 5802461 + RNA DEL A A - rs35679220 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:5802461delA ENST00000453678.1 - 0 258 AC107057.2_ENST00000458264.1_RNA ttgtaaaaagaaaaaaaaaat 0.358 3 3 --- --- --- --- RAB6C-AS1 100131320 broad.mit.edu 37 2 130726035 130726035 + RNA DEL A A - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:130726035delA ENST00000412425.1 - 0 667 NR_036537.1 attgttttttaaaatgtatac 0.284 7 21 --- --- --- --- LOC101927156 101927156 broad.mit.edu 37 2 182009751 182009752 + RNA INS - - C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:182009751_182009752insC ENST00000435411.1 + 0 144 tccctccggtggggtttgttgt 0.525 2 4 --- --- --- --- AC067956.1 0 broad.mit.edu 37 2 221428377 221428377 + RNA DEL A A - rs77718795 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr2:221428377delA ENST00000414512.1 + 0 368 actctgtctcaaaaaaaaaaa 0.463 2 4 --- --- --- --- AC136289.1 0 broad.mit.edu 37 3 63790093 63790093 + RNA DEL T T - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr3:63790093delT ENST00000443346.1 - 0 622 tcccacgtgctttctctttgg 0.483 2 4 --- --- --- --- RP11-269F21.3 0 broad.mit.edu 37 4 112914146 112914146 + RNA DEL A A - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr4:112914146delA ENST00000511219.1 - 0 134 AAACTTTGGCAAGACCCAGGG 0.418 2 4 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9795607 9795607 + RNA DEL A A - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:9795607delA ENST00000511616.1 - 0 521 NR_027112.2 TACCTCCAAGAAAAAAAAAAG 0.443 2 4 --- --- --- --- CTB-43E15.2 0 broad.mit.edu 37 5 173125983 173125984 + RNA DEL CA CA - rs71879960 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr5:173125983_173125984delCA ENST00000521373.1 + 0 95 ATGGGGCGGCcacacacacaca 0.540 2 4 --- --- --- --- RP1-223B1.1 0 broad.mit.edu 37 6 3606705 3606706 + RNA INS - - ACACACACAT rs72508000 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr6:3606705_3606706insACACACACAT ENST00000443445.1 - 0 500 cacacagacacacacacacaca 0.574 5 3 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6453860 6453862 + RNA DEL TTT TTT - rs80329653 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr6:6453860_6453862delTTT ENST00000435641.1 - 0 482 LY86-AS1_ENST00000447858.1_RNA|LY86-AS1_ENST00000429345.1_RNA ctgatgtcaattttttttatcta 0.365 4 2 --- --- --- --- LINC00243 401247 broad.mit.edu 37 6 30791099 30791100 + RNA INS - - A rs11312241 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr6:30791099_30791100insA ENST00000399196.1 - 0 145 gactccatctcaaaaaaaaaaa 0.455 3 3 --- --- --- --- LOC101927769 101927769 broad.mit.edu 37 7 20339383 20339384 + RNA DEL CA CA - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:20339383_20339384delCA ENST00000446399.1 + 0 168 ttaaaaaattcacacacacaca 0.475 4 4 --- --- --- --- DPY19L2P1 554236 broad.mit.edu 37 7 35145789 35145793 + RNA DEL CTAAA CTAAA - rs76141590 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:35145789_35145793delCTAAA ENST00000436258.1 - 0 1553_1557 GTGACTATCTCTAAACTACTTAGGA 0.190 4 6 --- --- --- --- RP11-368M16.3 0 broad.mit.edu 37 7 57701099 57701099 + RNA DEL T T - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:57701099delT ENST00000605139.1 - 0 416 ctggccCAAGTTTTTTTCTAT 0.522 3 6 --- --- --- --- RP5-945F2.3 0 broad.mit.edu 37 7 67629572 67629573 + RNA DEL TC TC - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr7:67629572_67629573delTC ENST00000446187.1 - 0 444 CAGTTCTTATTCTCTCTCTCTC 0.490 2 4 --- --- --- --- UBXN8 7993 broad.mit.edu 37 8 30612473 30612474 + RNA INS - - T rs34741520 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:30612473_30612474insT ENST00000519246.1 + 0 604 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 GGGGTTGGTCGttttttttttt 0.391 3 3 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130540135 130540135 + RNA DEL A A - rs79905354 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr8:130540135delA ENST00000446592.3 - 0 312 actccatctcaaaaaaaaaaa 0.413 2 4 --- --- --- --- LOC100132077 100132077 broad.mit.edu 37 9 97097144 97097144 + RNA DEL T T - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr9:97097144delT ENST00000454869.1 + 0 513 NR_033937.1 CAAGTTATAAttttttttttt 0.498 2 4 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135947051 135947052 + Frame_Shift_Ins INS - - C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr9:135947051_135947052insC ENST00000372080.4 + 11 2187_2188 c.2171_2172insC c.(2170-2172)ggcfs p.G724fs CEL_ENST00000351304.7_Frame_Shift_Ins_p.G655fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 721 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GGTGACTCCGGGGCCCCCCCTG 0.728 9 3 --- --- --- --- LINC01573 101928483 broad.mit.edu 37 9 139440926 139440926 + RNA DEL G G - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr9:139440926delG ENST00000429224.1 + 0 160 AGGCCACGTTGGGGGACCCCG 0.761 2 4 --- --- --- --- LINC00842 643650 broad.mit.edu 37 10 47109460 47109461 + RNA INS - - G rs67033757 by1000genomes TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr10:47109460_47109461insG ENST00000422732.2 - 0 435 NR_033957.1 caTCCTCCCCCCCCATCATGCT 0.530 3 6 --- --- --- --- TMEM26-AS1 101928781 broad.mit.edu 37 10 63226729 63226730 + RNA DEL GT GT - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr10:63226729_63226730delGT ENST00000389640.4 + 0 651 ACAGTGTCTGgtgtgtgtgtgt 0.391 2 4 --- --- --- --- CTAGE5 4253 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs TTGCTGTTCTCTTTTTTTTGTG 0.371 7 185 --- --- --- --- RP11-187O7.3 0 broad.mit.edu 37 14 77118202 77118202 + RNA DEL C C - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:77118202delC ENST00000554926.1 - 0 194 atctccctttccacaagtttt 0.552 OREG0031334 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 2 4 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493792 77493794 + In_Frame_Del DEL TGT TGT - rs28718623 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:77493792_77493794delTGT ENST00000238647.3 - 1 1240_1242 c.342_344delACA c.(340-345)cag>ca p.QQ126del NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 126 Poly-Gln. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 ctgctgctgctgttgctgctgct 0.700 4 9 --- --- --- --- RP11-526N18.1 0 broad.mit.edu 37 14 80425285 80425286 + RNA INS - - A rs142819658 by1000genomes TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr14:80425285_80425286insA ENST00000554307.1 - 0 366 acaaacaaatgaaaaaaagctc 0.347 3 3 --- --- --- --- GOLGA6L2 283685 broad.mit.edu 37 15 23685037 23685038 + Frame_Shift_Ins INS - - C TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr15:23685037_23685038insC ENST00000567107.1 - 8 2636_2637 c.2584_2585insG c.(2584-2586)aggfs p.R862fs GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron golgin A6 family-like 2 breast(1)|endometrium(7) 8 ttctcctcctgcccccacatct 0.594 2 4 --- --- --- --- RP11-445F12.1 0 broad.mit.edu 37 17 35274568 35274569 + RNA INS - - CA rs35864103 by1000genomes TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:35274568_35274569insCA ENST00000532387.2 - 0 95 RP11-445F12.1_ENST00000528383.1_RNA|RP11-445F12.1_ENST00000529264.1_RNA acacatgcacgcacacacacac 0.559 2 4 --- --- --- --- TNRC6C 57690 broad.mit.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:76046980delA ENST00000335749.4 + 3 2406 c.1837delA c.(1837-1839)aafs p.K614fs TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 614 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGGGATGGGAAAAAAAATGG 0.522 7 237 --- --- --- --- LOC101929650 101929650 broad.mit.edu 37 17 81102172 81102172 + RNA DEL G G - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr17:81102172delG ENST00000572343.1 + 0 522 TGTGTGGGGTGGGAAGGGGCC 0.627 2 4 --- --- --- --- RP11-103J8.1 0 broad.mit.edu 37 20 10773019 10773019 + RNA DEL A A - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr20:10773019delA ENST00000605292.1 + 0 98 CTTTTACTGTAAGGGAGTTGC 0.378 2 4 --- --- --- --- LOC101929486 101929486 broad.mit.edu 37 20 12855127 12855132 + RNA DEL TGTATA TGTATA - rs139454824 by1000genomes TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr20:12855127_12855132delTGTATA ENST00000456265.1 - 0 2455 cgtgtgtgtgtgtatatatatatata 0.345 3 3 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39832962 39832962 + Frame_Shift_Del DEL T T - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr20:39832962delT ENST00000309060.3 - 4 1010 c.595delA c.(595-597)ttfs p.I199fs ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 199 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) AGTGTATGAATTTTTTTGGCT 0.488 8 240 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11089271 11089273 + RNA DEL CAC CAC - rs150553952 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr21:11089271_11089273delCAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gtaatcccaacactttggaaggc 0.433 4 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11091170 11091171 + RNA INS - - T rs112568653 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr21:11091170_11091171insT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aaaataaaaTATTTTTTAAAAA 0.351 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11093095 11093095 + RNA DEL A A - rs145159759 TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chr21:11093095delA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTTACCATGCAAAAAAATATA 0.403 6 9 --- --- --- --- TXLNGY 246126 broad.mit.edu 37 Y 21758039 21758039 + RNA DEL A A - TCGA-GF-A769-01A-32D-A32N-08 TCGA-GF-A769-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca94d3c4-41ff-418c-86cb-309837e826ec 4730cc29-5448-4d92-b35e-406eb9dadf74 g.chrY:21758039delA ENST00000253320.4 + 0 3120 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 TACTTCTTGGAAAAAAAAAAA 0.378 4 7 --- --- --- ---