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 TRBV5-4 28611 broad.mit.edu 37 7 142168673 142168673 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142168673C>A ENST00000454561.2 - 0 250 GTCCACTGAGCCTGTGGGAAA 0.547000 7 47 1.55469e-16 2.30678e-16 0.654019 1 0 ATAD3B 83858 broad.mit.edu 37 1 1425771 1425771 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:1425771A>T ENST00000308647.7 + 14 1588 c.1472A>T c.(1471-1473)aAc>aTc p.N491I NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 491 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CATTTTGACAACTGTGTTCTT 0.597000 11 53 0 0 0.479597 0 0 ZNF99 7652 broad.mit.edu 37 19 22940928 22940928 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:22940928A>G ENST00000397104.3 - 5 1509 c.1510T>C c.(1510-1512)Tgt>Cgt p.C504R ZNF99_ENST00000596209.1_Missense_Mutation_p.C595R 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) CATTCTTCACATTTGTAGGGT 0.368000 10 37 0 0 0.361761 0 0 EVPL 2125 broad.mit.edu 37 17 74003853 74003853 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:74003853G>A ENST00000301607.3 - 22 5686 c.5433C>T c.(5431-5433)ttC>ttT p.F1811F EVPL_ENST00000586740.1_Silent_p.F1833F NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1811 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGGGAGAGAAGAAACTGGTGC 0.592000 27 133 0 0 0.717897 0 0 OR3A4P 390756 broad.mit.edu 37 17 3213873 3213873 + RNA SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:3213873C>T ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA CATTTCATATCCAACGACAGA 0.542000 19 62 0 0 0.624587 0 0 COL2A1 1280 broad.mit.edu 37 12 48380960 48380960 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:48380960C>A ENST00000380518.3 - 21 1431 c.e21-1 COL2A1_ENST00000337299.6_Splice_Site|COL2A1_ENST00000493991.1_Splice_Site NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 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) CAGGAGCACCCTGTGGGCATG 0.647000 26 16 7.68411e-24 1.28047e-23 0.729181 1 0 SRRM1 10250 broad.mit.edu 37 1 24995964 24995964 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:24995964C>T ENST00000323848.9 + 14 2405 c.2090C>T c.(2089-2091)cCt>cTt p.P697L SRRM1_ENST00000447431.2_Missense_Mutation_p.P709L|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P706L NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 697 Arg-rich.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TCCTCAAGTCCTCCACCCGTT 0.602000 6 13 0 0 0.307466 0 0 THBS1 7057 broad.mit.edu 37 15 39874446 39874446 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:39874446C>T ENST00000260356.5 + 3 285 c.120C>T c.(118-120)gcC>gcT p.A40A NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 40 TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CCGGGGCCGCCCGCAAGGGGT 0.602000 11 35 0 0 0.479597 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724033 38724033 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:38724033C>G ENST00000342213.2 - 1 1541 c.1195G>C c.(1195-1197)Gtc>Ctc p.V399L NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 399 integral to membrane sugar binding p.V399I(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AATATGAAGACCACGGCAGAG 0.507000 5 40 0 0 0.217242 0 0 HCN1 348980 broad.mit.edu 37 5 45695856 45695856 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:45695856A>T ENST00000303230.4 - 1 397 c.340T>A c.(340-342)Ttt>Att p.F114I NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 114 Involved in subunit assembly (By similarity). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGGCTCCCAAACATGCGGAGG 0.582000 15 121 0 0 0.539581 0 0 NCAM1 4684 broad.mit.edu 37 11 113102391 113102391 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:113102391C>A ENST00000316851.7 + 9 1084 c.1084C>A c.(1084-1086)Cgt>Agt p.R362S NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.R244S|NCAM1_ENST00000401611.2_Missense_Mutation_p.R371S NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 372 Ig-like C2-type 4. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CATGGTGGTGCGTAGCCATGC 0.622000 34 66 1.30091e-30 2.32364e-30 0.827153 1 0 SPTA1 6708 broad.mit.edu 37 1 158639266 158639266 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:158639266C>A ENST00000368148.3 - 14 1945 c.1765G>T c.(1765-1767)Gag>Tag p.E589* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E589* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 589 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTGAGTCCTCATACAGTTTT 0.453000 39 157 2.66277e-13 3.63239e-13 0.827153 1 0 KANK4 163782 broad.mit.edu 37 1 62739726 62739726 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:62739726C>G ENST00000371153.4 - 3 1428 c.1050G>C c.(1048-1050)tcG>tcC p.S350S KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 350 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCTCCAGGGCCGAGACCTGCT 0.557000 13 86 0 0 0.457914 0 0 TTYH2 94015 broad.mit.edu 37 17 72240186 72240186 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:72240186G>T ENST00000269346.4 + 6 876 c.802G>T c.(802-804)Gtg>Ttg p.V268L TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Missense_Mutation_p.V247L NM_032646.5 NP_116035.5 Q9BSA4 TTYH2_HUMAN tweety family member 2 268 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 CTCTGCGGCAGTGGTGAGTTG 0.637000 11 57 7.03913e-09 8.4876e-09 0.411799 1 0 MDFI 4188 broad.mit.edu 37 6 41621101 41621101 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:41621101C>T ENST00000373050.4 + 4 533 c.346C>T c.(346-348)Ctg>Ttg p.L116L Q99750 MDFI_HUMAN MyoD family inhibitor 177 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) CTGCGAGTTCCTGACGCTGTG 0.652000 87 200 0 0 0.870114 0 0 GABRA2 2555 broad.mit.edu 37 4 46252604 46252604 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:46252604G>T ENST00000510861.1 - 10 1250 c.1077C>A c.(1075-1077)tcC>tcA p.S359S GABRA2_ENST00000540012.1_Silent_p.S364S|GABRA2_ENST00000514090.1_Silent_p.S359S|GABRA2_ENST00000507069.1_Silent_p.S419S|GABRA2_ENST00000356504.1_Silent_p.S359S|GABRA2_ENST00000381620.4_Silent_p.S359S P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 359 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTATCATAACGGAAGCCTTTT 0.388000 22 31 3.62473e-10 4.55528e-10 0.608945 1 0 TRPC5 7224 broad.mit.edu 37 X 111195481 111195481 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:111195481C>A ENST00000262839.2 - 2 1086 c.168G>T c.(166-168)gaG>gaT p.E56D NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 56 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TATAGTAGATCTCAGCCTCCT 0.542000 48 25 9.40368e-32 1.69508e-31 0.870114 1 0 OR1A2 26189 broad.mit.edu 37 17 3101459 3101459 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:3101459C>A ENST00000381951.1 + 1 647 c.647C>A c.(646-648)tCc>tAc p.S216Y NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 ATCATTGTCTCCTATGTTCAG 0.443000 47 51 9.77569e-14 1.34854e-13 0.870114 1 0 FLNC 2318 broad.mit.edu 37 7 128492926 128492926 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:128492926G>T ENST00000325888.8 + 37 6310 c.6049G>T c.(6049-6051)Gtg>Ttg p.V2017L FLNC_ENST00000346177.6_Missense_Mutation_p.V1984L|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2017 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGTGGTGAGCGTGCGCAAGAG 0.642000 33 44 9.85521e-28 1.71353e-27 0.819951 1 0 PIK3R5 23533 broad.mit.edu 37 17 8808217 8808217 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:8808217G>T ENST00000447110.1 - 5 413 c.289C>A c.(289-291)Cca>Aca p.P97T PIK3R5_ENST00000581552.1_Missense_Mutation_p.P97T|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P97T NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 97 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TCCGAGTCTGGTGGGAAGTGT 0.547000 51 34 2.27459e-33 4.13046e-33 0.870114 1 0 KIF21A 55605 broad.mit.edu 37 12 39761691 39761691 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:39761691T>C ENST00000395670.3 - 4 1013 c.594A>G c.(592-594)gaA>gaG p.E198E KIF21A_ENST00000544797.2_Silent_p.E198E|KIF21A_ENST00000541463.2_Silent_p.E198E|KIF21A_ENST00000361961.3_Silent_p.E198E|KIF21A_ENST00000361418.5_Silent_p.E198E Q7Z4S6 KI21A_HUMAN kinesin family member 21A 198 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTACCTCTGATTCTGTATTCA 0.289000 12 248 0 0 0.557998 0 0 DIO3 1735 broad.mit.edu 37 14 102028697 102028697 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:102028697G>T ENST00000359323.3 + 1 1010 c.786G>T c.(784-786)tgG>tgT p.W262C DIO3_ENST00000510508.4_Missense_Mutation_p.W288C NM_001362.3 NP_001353.4 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 262 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) TGCGCACTTGGTTGGAACGCT 0.597000 21 65 3.62473e-10 4.55528e-10 0.608945 1 0 QRICH2 84074 broad.mit.edu 37 17 74288466 74288466 + Nonsense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:74288466A>T ENST00000262765.5 - 4 2023 c.1844T>A c.(1843-1845)tTg>tAg p.L615* NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 615 Gln-rich. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 AGGTTGTGCCAAACCATGCTG 0.542000 54 72 0 0 0.870114 0 0 NPAS4 266743 broad.mit.edu 37 11 66192567 66192567 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:66192567C>A ENST00000311034.2 + 7 2382 c.2206C>A c.(2206-2208)Cca>Aca p.P736T NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 736 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GGCAGAGGGCCCAGGAGGGGC 0.587000 31 45 2.75727e-19 4.26519e-19 0.804634 1 0 OR4B1 119765 broad.mit.edu 37 11 48238768 48238768 + Missense_Mutation SNP G G A rs149306992 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:48238768G>A ENST00000309562.2 + 1 425 c.407G>A c.(406-408)cGt>cAt p.R136H NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R136H(1) breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 ATTATCAGTCGTCAACTGTGT 0.473000 25 22 0 0 0.667858 0 0 SEPHS2 22928 broad.mit.edu 37 16 30455694 30455694 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:30455694C>G ENST00000478753.2 - 1 1808 c.1355G>C c.(1354-1356)aGa>aCa p.R452T SEPHS2_ENST00000542752.1_3'UTR Q99611 SPS2_HUMAN selenophosphate synthetase 2 0 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 AACTTCTGTTCTTTCATCTCA 0.488000 8 89 0 0 0.387290 0 0 MUC5B 727897 broad.mit.edu 37 11 1265033 1265033 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:1265033C>A ENST00000447027.1 + 31 6990 c.6932C>A c.(6931-6933)aCg>aAg p.T2311K RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2308K Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2308 7 X Cys-rich subdomain repeats.|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) CCCATAACCACGGTGGTGACC 0.672000 35 84 1.06522e-23 1.76906e-23 0.864702 1 0 RAI14 26064 broad.mit.edu 37 5 34823528 34823528 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:34823528C>T ENST00000265109.3 + 15 1868 c.1581C>T c.(1579-1581)gtC>gtT p.V527V RAI14_ENST00000503673.1_Silent_p.V527V|RAI14_ENST00000515799.1_Silent_p.V530V|RAI14_ENST00000512629.1_Silent_p.V498V|RAI14_ENST00000506376.1_Silent_p.V519V|RAI14_ENST00000397449.1_Silent_p.V520V|RAI14_ENST00000428746.2_Silent_p.V527V NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 527 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) AGCTGAGGGTCACGGAAGAGG 0.408000 8 90 0 0 0.387290 0 0 TBX3 6926 broad.mit.edu 37 12 115117391 115117391 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:115117391C>G ENST00000349155.2 - 3 1686 c.723G>C c.(721-723)ttG>ttC p.L241F TBX3_ENST00000257566.3_Missense_Mutation_p.L261F NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 261 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) AAGGGAGTTTCAAGATGTCAT 0.443000 7 183 0 0 0.335167 0 0 SMO 6608 broad.mit.edu 37 7 128845065 128845065 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:128845065T>A ENST00000249373.3 + 3 839 c.559T>A c.(559-561)Ttc>Atc p.F187I NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 187 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GAACATCAAGTTCAACAGTTC 0.562000 Mis skin basal cell 16 83 0 0 0.592651 0 0 MUC16 94025 broad.mit.edu 37 19 9059113 9059113 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9059113G>A ENST00000397910.4 - 3 28536 c.28333C>T c.(28333-28335)Cct>Tct p.P9445S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9447 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTGGCGAAGGTGAGGTTACT 0.498000 13 59 0 0 0.457914 0 0 CACNG3 10368 broad.mit.edu 37 16 24268214 24268214 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:24268214G>T ENST00000005284.3 + 1 1341 c.139G>T c.(139-141)Gat>Tat p.D47Y NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 47 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) ATCTACAAGTGATAATGAAAC 0.453000 15 78 6.49762e-13 8.76018e-13 0.539581 1 0 PLEKHA8 84725 broad.mit.edu 37 7 30088838 30088838 + Splice_Site SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:30088838A>T ENST00000449726.1 + 5 788 c.e5-1 PLEKHA8_ENST00000396259.1_Splice_Site|PLEKHA8_ENST00000396257.2_Splice_Site|PLEKHA8_ENST00000258679.7_Splice_Site NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 GTTGTTTCGTAGGAGGGAATT 0.408000 45 161 0 0 0.870114 0 0 MAP4 4134 broad.mit.edu 37 3 47951344 47951344 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:47951344C>A ENST00000426837.2 - 10 4705 c.4618G>T c.(4618-4620)Gga>Tga p.G1540* MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000264724.11_Nonsense_Mutation_p.G130* P27816 MAP4_HUMAN microtubule-associated protein 4 910 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GAGTGATCTCCATGAATGTTA 0.448000 62 35 1.43675e-24 2.42924e-24 0.870114 1 0 TMEM82 388595 broad.mit.edu 37 1 16073381 16073381 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:16073381C>A ENST00000375782.1 + 5 915 c.777C>A c.(775-777)ccC>ccA p.P259P RP11-169K16.4_ENST00000418525.1_RNA NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 259 Leu-rich. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCAGCACCCCGGCCTGCAGA 0.692000 3 10 0.004672 0.0048371 0.115264 1 0 KRT25 147183 broad.mit.edu 37 17 38911183 38911183 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:38911183C>T ENST00000312150.4 - 1 401 c.341G>A c.(340-342)tGg>tAg p.W114* NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 114 Coil 1A.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTTCTCATACCAGCCCTTGAT 0.483000 110 109 0 0 0.870114 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863013 10863013 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:10863013C>A ENST00000559480.1 + 0 309 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TGGAGCTAAGCAGTCTGAGAT 0.507000 98 369 1.99536e-56 3.91298e-56 0.870114 1 0 P2RY8 286530 broad.mit.edu 37 X 1584780 1584780 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:1584780C>T ENST00000381297.4 - 2 882 c.672G>A c.(670-672)gaG>gaA p.E224E NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 224 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGTGCGCCTCCTCCGTGCGCA 0.642000 T CRLF2 """B-ALL, Downs associated ALL""" 8 15 0 0 0.278610 0 0 COG5 10466 broad.mit.edu 37 7 107053054 107053054 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:107053054G>C ENST00000393603.2 - 7 926 c.655C>G c.(655-657)Ctt>Gtt p.L219V COG5_ENST00000347053.3_Missense_Mutation_p.L219V|COG5_ENST00000297135.3_Missense_Mutation_p.L219V|COG5_ENST00000475638.2_5'UTR NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 219 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 ATTCCAGAAAGATCTATTCCT 0.313000 12 35 0 0 0.411799 0 0 RYR3 6263 broad.mit.edu 37 15 34140600 34140600 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:34140600G>C ENST00000389232.4 + 94 13676 c.13606G>C c.(13606-13608)Gac>Cac p.D4536H RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Missense_Mutation_p.D4531H NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4536 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGGGCAGTGGGACCGCTTGGT 0.478000 32 59 0 0 0.812448 0 0 LRP1B 53353 broad.mit.edu 37 2 141093243 141093243 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:141093243G>T ENST00000389484.3 - 78 13028 c.12057C>A c.(12055-12057)acC>acA p.T4019T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4019 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.T4019T(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTAAGAGTCTGGTGCAGTTGG 0.413000 TSP Lung(27;0.18) 49 105 4.96213e-28 8.67379e-28 0.870114 1 0 GRIN2D 2906 broad.mit.edu 37 19 48908226 48908226 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:48908226C>A ENST00000263269.3 + 3 789 c.701C>A c.(700-702)gCc>gAc p.A234D NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 234 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GTGCTCAGTGCCCAGCTCCGC 0.692000 12 19 3.27435e-08 3.88372e-08 0.457914 1 0 CLCA2 9635 broad.mit.edu 37 1 86900248 86900248 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:86900248C>G ENST00000370565.4 + 6 954 c.792C>G c.(790-792)aaC>aaG p.N264K NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 264 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AAGCACCAAACCTACAGAACC 0.443000 16 68 0 0 0.520397 0 0 ENTPD6 955 broad.mit.edu 37 20 25193939 25193939 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:25193939A>T ENST00000360031.2 + 5 673 c.491A>T c.(490-492)cAg>cTg p.Q164L ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q165L|ENTPD6_ENST00000376652.4_Missense_Mutation_p.Q165L|ENTPD6_ENST00000354989.5_Missense_Mutation_p.Q148L NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 165 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 GTTGCTAAACAGGACATTCCG 0.547000 22 94 0 0 0.654019 0 0 KRT6B 3854 broad.mit.edu 37 12 52844258 52844258 + Silent SNP C C T rs71453292 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:52844258C>T ENST00000252252.3 - 2 734 c.687G>A c.(685-687)gtG>gtA p.V229V NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 229 Coil 1B.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CCCGTTCCCCCACGATGTTGT 0.577000 21 242 0 0 0.654019 0 0 FABP9 646480 broad.mit.edu 37 8 82371416 82371416 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:82371416T>A ENST00000379071.2 - 2 285 c.230A>T c.(229-231)gAc>gTc p.D77V RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 77 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) TTTCCGGTTGTCTGCTGTAGT 0.388000 30 133 0 0 0.796494 0 0 CXorf22 170063 broad.mit.edu 37 X 35985933 35985933 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:35985933C>G ENST00000297866.5 + 10 1864 c.1798C>G c.(1798-1800)Cat>Gat p.H600D NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 600 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GTCTAAAGACCATCATAAACA 0.408000 6 8 0 0 0.307466 0 0 SZT2 23334 broad.mit.edu 37 1 43869347 43869347 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:43869347A>T ENST00000562955.1 + 3 229 c.229A>T c.(229-231)Agg>Tgg p.R77W SZT2_ENST00000372450.4_Missense_Mutation_p.R75W|SZT2_ENST00000310739.4_Missense_Mutation_p.R77W NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 77 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 AGTGGTCCCAAGGCCATTCCT 0.527000 52 57 0 0 0.870114 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110454308 110454308 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:110454308G>T ENST00000378402.5 + 35 4381 c.4277G>T c.(4276-4278)tGg>tTg p.W1426L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1426 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCATGGCATTGGCAAACACAT 0.433000 HNSCC(38;0.096) 7 114 0.00198382 0.0020714 0.248553 1 0 PARVA 55742 broad.mit.edu 37 11 12549441 12549441 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:12549441A>T ENST00000334956.8 + 13 1551 c.1208A>T c.(1207-1209)aAc>aTc p.N403I PARVA_ENST00000539723.1_Missense_Mutation_p.N363I|PARVA_ENST00000550549.1_Missense_Mutation_p.N363I NM_018222.4 NP_060692.2 Q9NVD7 PARVA_HUMAN parvin, alpha 363 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) GTGTTGTACAACCTCTTCACC 0.512000 28 141 0 0 0.788014 0 0 ZNF595 152687 broad.mit.edu 37 4 59446 59446 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:59446C>A ENST00000509152.2 + 2 312 c.127C>A c.(127-129)Ctg>Atg p.L43M ZNF595_ENST00000526473.2_Missense_Mutation_p.L43M|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) CCTGGTCTCCCTGGGTGAGGA 0.428000 26 320 4.02929e-09 4.91884e-09 0.750413 1 0 PASD1 139135 broad.mit.edu 37 X 150842426 150842426 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:150842426C>A ENST00000370357.4 + 15 2188 c.1943C>A c.(1942-1944)cCc>cAc p.P648H NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 648 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TATCAAGGGCCCCCCGTGAAC 0.458000 46 29 9.53978e-28 1.66016e-27 0.870114 1 0 FLNB 2317 broad.mit.edu 37 3 58094197 58094197 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:58094197G>T ENST00000357272.4 + 13 2119 c.1954G>T c.(1954-1956)Ggg>Tgg p.G652W FLNB_ENST00000429972.2_Missense_Mutation_p.G652W|FLNB_ENST00000295956.4_Missense_Mutation_p.G652W|FLNB_ENST00000419752.2_Missense_Mutation_p.G483W|FLNB_ENST00000348383.5_Missense_Mutation_p.G652W|FLNB_ENST00000493452.1_Missense_Mutation_p.G483W|FLNB_ENST00000490882.1_Missense_Mutation_p.G652W|FLNB_ENST00000358537.3_Missense_Mutation_p.G652W O75369 FLNB_HUMAN filamin B, beta 652 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCGAGCATACGGGCCAGGTTT 0.473000 19 19 5.26018e-13 7.12611e-13 0.608945 1 0 FKBPL 63943 broad.mit.edu 37 6 32097297 32097297 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:32097297C>A ENST00000375156.3 - 2 531 c.261G>T c.(259-261)atG>atT p.M87I NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 87 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity GGGCCTCTGGCATCTGACTGG 0.488000 36 32 2.19358e-23 3.63682e-23 0.812448 1 0 CLSTN2 64084 broad.mit.edu 37 3 140185568 140185568 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:140185568G>C ENST00000458420.3 + 8 1529 c.1339G>C c.(1339-1341)Gat>Cat p.D447H NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 447 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CTGGAAGCTGGATCAGGTATG 0.592000 HNSCC(16;0.037) 14 46 0 0 0.500413 0 0 FBXO40 51725 broad.mit.edu 37 3 121340502 121340502 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:121340502A>T ENST00000338040.4 + 3 640 c.226A>T c.(226-228)Atg>Ttg p.M76L NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 76 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CCCTCTGTCCATGTCCCGCCA 0.597000 34 98 0 0 0.779181 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68252721 68252721 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:68252721C>A ENST00000347230.4 - 18 3296 c.3158G>T c.(3157-3159)gGa>gTa p.G1053V ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G1053V NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1053 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGGGCCTCCTCCCTTTTCTTC 0.498000 30 41 1.80694e-10 2.30177e-10 0.740014 1 0 BTN2A3P 54718 broad.mit.edu 37 6 26423463 26423463 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:26423463G>T ENST00000466808.2 + 0 382 CTTCCAAGAAGGCAGGTCCTG 0.512000 37 50 3.7052e-28 6.48824e-28 0.864702 1 0 IGKV1-16 28938 broad.mit.edu 37 2 89399448 89399448 + RNA SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:89399448G>C ENST00000479981.1 - 0 281 ATCCACTGCCGCTGAACTTTG 0.478000 35 152 0 0 0.840704 0 0 GIGYF2 26058 broad.mit.edu 37 2 233709131 233709131 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:233709131C>G ENST00000373566.3 + 26 3415 c.3218C>G c.(3217-3219)aCt>aGt p.T1073S GIGYF2_ENST00000373563.4_Missense_Mutation_p.T1051S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.T1073S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.T1051S|GIGYF2_ENST00000452341.2_3'UTR|GIGYF2_ENST00000409451.3_Missense_Mutation_p.T1072S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.T1045S Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 1051 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TCTATAAATACTGGTCCTCCT 0.403000 28 79 0 0 0.796494 0 0 TRPM6 140803 broad.mit.edu 37 9 77347647 77347647 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:77347647C>A ENST00000451710.3 - 36 6031 c.5794G>T c.(5794-5796)Gga>Tga p.G1932* TRPM6_ENST00000449912.2_Nonsense_Mutation_p.G1923*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.G765*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.G883*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.G1923*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.G1928* Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1928 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.G1928R(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AAATTTTCTCCAACACCTCAA 0.234000 7 9 7.48243e-07 8.56943e-07 0.335167 1 0 EPHB6 2051 broad.mit.edu 37 7 142564021 142564021 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142564021G>C ENST00000392957.2 + 9 2196 c.1409G>C c.(1408-1410)aGc>aCc p.S470T EPHB6_ENST00000411471.2_Missense_Mutation_p.S193T|EPHB6_ENST00000442129.1_Missense_Mutation_p.S470T NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 470 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.S455I(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TCTGAGCTCAGCCCTGACCCT 0.587000 15 47 0 0 0.479597 0 0 PCF11 51585 broad.mit.edu 37 11 82877020 82877020 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:82877020G>T ENST00000298281.4 + 5 1533 c.1081G>T c.(1081-1083)Gat>Tat p.D361Y NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 361 Lys-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TGACCAATTAGATTCTAAATC 0.308000 8 22 0.000442599 0.000469634 0.335167 1 0 DGKI 9162 broad.mit.edu 37 7 137263021 137263021 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:137263021C>A ENST00000453654.1 - 16 1332 c.793G>T c.(793-795)Gca>Tca p.A265S DGKI_ENST00000288490.5_Missense_Mutation_p.A565S|DGKI_ENST00000446122.1_Missense_Mutation_p.A565S|DGKI_ENST00000424189.2_Missense_Mutation_p.A565S O75912 DGKI_HUMAN diacylglycerol kinase, iota 565 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCTACCCCTGCATAGAACATT 0.323000 24 47 1.61788e-16 2.39329e-16 0.760397 1 0 AHCTF1 25909 broad.mit.edu 37 1 247014368 247014368 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:247014368C>A ENST00000366508.1 - 33 5181 c.5045G>T c.(5044-5046)aGt>aTt p.S1682I AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1647I|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1656I|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1647 Mediates transcriptional activity (By similarity).|Necessary for nuclear 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) CTTTTGGTCACTAGTTACGGC 0.358000 29 108 5.90632e-09 7.13484e-09 0.760397 1 0 BRAT1 221927 broad.mit.edu 37 7 2577814 2577814 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:2577814C>A ENST00000340611.4 - 14 2611 c.2355G>T c.(2353-2355)cgG>cgT p.R785R NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 785 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 CCAGCGTGCTCCGCAGGCCCT 0.706000 8 40 2.17888e-05 2.40289e-05 0.335167 1 0 MME 4311 broad.mit.edu 37 3 154886377 154886377 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:154886377A>G ENST00000460393.1 + 19 1997 c.1877A>G c.(1876-1878)tAt>tGt p.Y626C MME_ENST00000493237.1_Missense_Mutation_p.Y626C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Missense_Mutation_p.Y626C|MME_ENST00000462745.1_Missense_Mutation_p.Y626C|MME_ENST00000360490.2_Missense_Mutation_p.Y626C NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 626 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GTGTATCAGTATGGAAACTTT 0.418000 43 119 0 0 0.870114 0 0 RFX6 222546 broad.mit.edu 37 6 117248310 117248310 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:117248310G>T ENST00000332958.2 + 17 2022 c.2006G>T c.(2005-2007)gGc>gTc p.G669V NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 669 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CCAAGTGTGGGCCCAGTACTG 0.527000 62 67 1.15773e-35 2.13392e-35 0.870114 1 0 SNHG14 104472715 broad.mit.edu 37 15 25468289 25468289 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:25468289C>A ENST00000453082.2 + 0 837 NR_003343.1 CCCTGGTGCACTGAAGCTCCA 0.607000 6 13 0.00116845 0.00122524 0.217242 1 0 KBTBD3 143879 broad.mit.edu 37 11 105923999 105923999 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:105923999G>A ENST00000526793.1 - 3 1576 c.1417C>T c.(1417-1419)Ctt>Ttt p.L473F KBTBD3_ENST00000531837.1_Missense_Mutation_p.L473F|KBTBD3_ENST00000534815.1_Missense_Mutation_p.L394F NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 469 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) AAGCAATCAAGTGATGGGTTA 0.363000 14 42 0 0 0.500413 0 0 CCDC87 55231 broad.mit.edu 37 11 66360264 66360264 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:66360264C>A ENST00000333861.3 - 1 290 c.223G>T c.(223-225)Gtg>Ttg p.V75L NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 75 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TCAGGAGGCACTCCCGCTGCT 0.647000 OREG0021111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 39 1.16021e-09 1.43328e-09 0.717897 1 0 DOCK10 55619 broad.mit.edu 37 2 225657746 225657746 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:225657746C>T ENST00000409592.3 - 47 5351 c.5238G>A c.(5236-5238)tcG>tcA p.S1746S DOCK10_ENST00000258390.7_Silent_p.S1752S Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1752 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GGGTATCCTCCGAGAGCAGGG 0.443000 92 205 0 0 0.870114 0 0 EPHA8 2046 broad.mit.edu 37 1 22925442 22925442 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:22925442C>A ENST00000166244.3 + 13 2362 c.2290C>A c.(2290-2292)Cgc>Agc p.R764S NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 764 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCTGGCCGCCCGCAACGTCCT 0.632000 4 31 1.23904e-05 1.37337e-05 0.184627 1 0 OR6F1 343169 broad.mit.edu 37 1 247875544 247875544 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:247875544G>T ENST00000302084.2 - 1 561 c.514C>A c.(514-516)Cgt>Agt p.R172S RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TTGATGGCACGGGGGCCACAG 0.597000 19 75 1.55795e-14 2.19544e-14 0.608945 1 0 MTRR 4552 broad.mit.edu 37 5 7892890 7892890 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:7892890A>G ENST00000264668.2 + 11 1532 c.1502A>G c.(1501-1503)gAa>gGa p.E501G MTRR_ENST00000440940.2_Missense_Mutation_p.E474G NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 501 FAD-binding FR-type. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) AACATTGTGGAATTTCTGTCT 0.438000 36 116 0 0 0.847076 0 0 NPR1 4881 broad.mit.edu 37 1 153657501 153657501 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:153657501G>A ENST00000368680.3 + 8 2018 c.1546G>A c.(1546-1548)Gag>Aag p.E516K NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 516 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGAGGACGTTGAGCCCAGTAG 0.622000 29 60 0 0 0.717897 0 0 PDE9A 5152 broad.mit.edu 37 21 44182340 44182340 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:44182340G>T ENST00000291539.6 + 14 1293 c.1233G>T c.(1231-1233)caG>caT p.Q411H PDE9A_ENST00000539837.1_Missense_Mutation_p.Q283H|PDE9A_ENST00000398234.3_Missense_Mutation_p.Q310H|PDE9A_ENST00000335512.4_Missense_Mutation_p.Q351H|PDE9A_ENST00000398236.3_Missense_Mutation_p.Q325H|PDE9A_ENST00000398232.3_Missense_Mutation_p.Q344H|PDE9A_ENST00000380328.2_Missense_Mutation_p.Q358H|PDE9A_ENST00000398224.3_Missense_Mutation_p.Q284H|PDE9A_ENST00000328862.6_Missense_Mutation_p.Q385H|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398229.3_Missense_Mutation_p.Q277H|PDE9A_ENST00000398227.3_Missense_Mutation_p.Q251H|PDE9A_ENST00000398225.3_Missense_Mutation_p.Q370H|PDE9A_ENST00000335440.6_Missense_Mutation_p.Q309H|PDE9A_ENST00000349112.3_Missense_Mutation_p.Q283H NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 411 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GGTTCAAGCAGATCCGACAGG 0.622000 10 42 0.010729 0.0109693 0.387290 1 0 OPCML 4978 broad.mit.edu 37 11 132307171 132307171 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:132307171G>T ENST00000331898.7 - 4 1187 c.609C>A c.(607-609)agC>agA p.S203R OPCML_ENST00000541867.1_Missense_Mutation_p.S203R|OPCML_ENST00000374778.4_Missense_Mutation_p.S162R|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.S196R NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 203 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CGTTCAACGCGCTGCATTCGT 0.542000 26 64 7.68411e-24 1.28047e-23 0.729181 1 0 TTN 7273 broad.mit.edu 37 2 179476514 179476514 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179476514G>C ENST00000589042.1 - 268 50746 c.50522C>G c.(50521-50523)aCa>aGa p.T16841R TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T7901R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T7776R|TTN_ENST00000342175.6_Missense_Mutation_p.T7968R|TTN_ENST00000342992.6_Missense_Mutation_p.T14273R|TTN_ENST00000591111.1_Missense_Mutation_p.T15200R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15200 Fibronectin type-III 22. 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) TAGGATTTCTGTGGGTTCACT 0.418000 31 150 0 0 0.819951 0 0 PASD1 139135 broad.mit.edu 37 X 150842427 150842427 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:150842427C>A ENST00000370357.4 + 15 2189 c.1944C>A c.(1942-1944)ccC>ccA p.P648P NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 648 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) ATCAAGGGCCCCCCGTGAACC 0.458000 46 32 9.53978e-28 1.66016e-27 0.870114 1 0 DENND2D 79961 broad.mit.edu 37 1 111740561 111740561 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:111740561C>T ENST00000357640.4 - 4 636 c.407G>A c.(406-408)gGa>gAa p.G136E DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.G133E NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 136 UDENN. breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) CCTGCAGTATCCAATCTTTCT 0.517000 13 20 0 0 0.575678 0 0 STON1 11037 broad.mit.edu 37 2 48809496 48809496 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:48809496C>T ENST00000309835.3 + 1 1734 c.1724C>T c.(1723-1725)cCa>cTa p.P575L STON1_ENST00000404752.1_Missense_Mutation_p.P575L|STON1_ENST00000406226.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P575L stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTCCTGTCCCATCGCAGTGG 0.493000 21 76 0 0 0.639603 0 0 ZXDC 79364 broad.mit.edu 37 3 126185041 126185041 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:126185041G>A ENST00000389709.3 - 5 1451 c.1398C>T c.(1396-1398)caC>caT p.H466H ZXDC_ENST00000336332.5_Silent_p.H466H NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 466 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) CCTTCATGCTGTGCTTGGAGG 0.567000 12 84 0 0 0.387290 0 0 SCN10A 6336 broad.mit.edu 37 3 38763859 38763859 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:38763859T>A ENST00000449082.2 - 19 3396 c.3397A>T c.(3397-3399)Agt>Tgt p.S1133C NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1133 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCCCATGGACTCTTGGTGGTA 0.547000 16 235 0 0 0.500413 0 0 PER3 8863 broad.mit.edu 37 1 7848163 7848163 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:7848163A>T ENST00000377532.3 + 4 673 c.449A>T c.(448-450)cAg>cTg p.Q150L PER3_ENST00000361923.2_Missense_Mutation_p.Q150L|PER3_ENST00000377541.1_Missense_Mutation_p.Q150L P56645 PER3_HUMAN period circadian clock 3 150 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) ATTTCTGAACAGGCTGCTTTG 0.403000 27 146 0 0 0.769981 0 0 DSG3 1830 broad.mit.edu 37 18 29049064 29049064 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:29049064T>A ENST00000257189.4 + 12 1732 c.1649T>A c.(1648-1650)cTc>cAc p.L550H NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 550 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACCTCGGCCCTCCTCAGAGCC 0.463000 74 52 0 0 0.870114 0 0 PSMB11 122706 broad.mit.edu 37 14 23512148 23512148 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:23512148C>T ENST00000408907.2 + 1 773 c.714C>T c.(712-714)cgC>cgT p.R238R NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 238 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) ATGTGTCACGCAGTGATGCCT 0.627000 20 29 0 0 0.624587 0 0 KCNB1 3745 broad.mit.edu 37 20 47989977 47989977 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:47989977C>A ENST00000371741.4 - 2 2286 c.2120G>T c.(2119-2121)gGa>gTa p.G707V NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 707 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACACTCCAGTCCAGCGACAGC 0.597000 30 39 6.00712e-18 9.10578e-18 0.760397 1 0 IMP3 55272 broad.mit.edu 37 15 75932168 75932168 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:75932168C>G ENST00000314852.2 - 2 1285 c.342G>C c.(340-342)gtG>gtC p.V114V IMP3_ENST00000403490.1_Silent_p.V114V Q9NV31 IMP3_HUMAN IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) 114 S4 RNA-binding. rRNA processing nucleolus|ribonucleoprotein complex protein binding|rRNA binding large_intestine(1) 1 GCTTGAGGAGCACGGTGGGGA 0.677000 4 9 0 0 0.150653 0 0 BACE1 23621 broad.mit.edu 37 11 117163809 117163809 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:117163809C>T ENST00000313005.6 - 5 1261 c.801G>A c.(799-801)gtG>gtA p.V267V BACE1_ENST00000428381.2_Silent_p.V198V|BACE1_ENST00000528053.1_Silent_p.V267V|BACE1_ENST00000513780.1_Silent_p.V242V|BACE1_ENST00000445823.2_Silent_p.V223V|BACE1_ENST00000510630.1_Silent_p.V142V|BACE1_ENST00000392937.6_Silent_p.V167V NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3 NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1 P56817 BACE1_HUMAN beta-site APP-cleaving enzyme 1 267 beta-amyloid metabolic process|membrane protein ectodomain proteolysis cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032) CATTGATCTCCACCCGCACAA 0.507000 111 273 0 0 0.870114 0 0 NUP133 55746 broad.mit.edu 37 1 229606512 229606512 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:229606512C>T ENST00000261396.3 - 15 1982 c.1891G>A c.(1891-1893)Ggg>Agg p.G631R NUP133_ENST00000366679.1_Missense_Mutation_p.G631R|NUP133_ENST00000537506.1_Missense_Mutation_p.G615R NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 631 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) ATCGGTGTCCCTCTAACTGGA 0.468000 12 57 0 0 0.500413 0 0 TRAP1 10131 broad.mit.edu 37 16 3724358 3724358 + Missense_Mutation SNP G G C rs143857142 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:3724358G>C ENST00000575671.1 - 4 1128 c.399C>G c.(397-399)atC>atG p.I133M TRAP1_ENST00000538171.1_Missense_Mutation_p.I289M|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Missense_Mutation_p.I342M Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 342 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(90;0.0261) GCACGTAGAAGATGCTGCGGA 0.592000 16 76 0 0 0.624587 0 0 KCNH7 90134 broad.mit.edu 37 2 163253255 163253255 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:163253255C>G ENST00000332142.5 - 11 2707 c.2608G>C c.(2608-2610)Gca>Cca p.A870P NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 870 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TATACCTTTGCGCTCTCATGC 0.338000 8 19 0 0 0.387290 0 0 HRH3 11255 broad.mit.edu 37 20 60791829 60791829 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:60791829C>A ENST00000340177.5 - 3 855 c.571G>T c.(571-573)Gag>Tag p.E191* HRH3_ENST00000317393.6_Nonsense_Mutation_p.E191* NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 191 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) TAGAAGAACTCGGCATAGCAG 0.582000 17 46 5.03518e-11 6.54141e-11 0.557998 1 0 SRD5A2 6716 broad.mit.edu 37 2 31758810 31758810 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:31758810C>A ENST00000405650.1 - 0 473 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) AGGCCTCCCTCGATTGAGCAG 0.458000 3 12 0.00024832 0.000265497 0.150653 1 0 C17orf74 201243 broad.mit.edu 37 17 7329951 7329951 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:7329951C>T ENST00000333870.3 + 3 715 c.641C>T c.(640-642)tCc>tTc p.S214F RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.L101L NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 214 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) GGCCTGCCCTCCAATGTGGGG 0.637000 24 27 0 0 0.624587 0 0 CEP164 22897 broad.mit.edu 37 11 117258085 117258085 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:117258085G>A ENST00000278935.3 + 15 2038 c.1891G>A c.(1891-1893)Gag>Aag p.E631K CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 631 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AGAGGAGGAAGAGGAGATCCT 0.577000 29 69 0 0 0.750413 0 0 UQCRC1 7384 broad.mit.edu 37 3 48638155 48638155 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:48638155C>T ENST00000203407.5 - 9 1501 c.1085G>A c.(1084-1086)cGa>cAa p.R362Q NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 362 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) GATTTTCATTCGGTCACAGAC 0.537000 21 114 0 0 0.667858 0 0 TMEM207 131920 broad.mit.edu 37 3 190147466 190147466 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:190147466G>T ENST00000354905.2 - 5 425 c.359C>A c.(358-360)cCt>cAt p.P120H NM_207316.1 NP_997199.1 Q6UWW9 TM207_HUMAN transmembrane protein 207 120 integral to membrane endometrium(1)|large_intestine(2)|lung(4) 7 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) ATATAGGTCAGGGGTTTGAGT 0.423000 64 87 5.72486e-32 1.03385e-31 0.870114 1 0 CFLAR 8837 broad.mit.edu 37 2 201994742 201994742 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:201994742G>T ENST00000395148.2 + 2 366 c.154G>T c.(154-156)Gtc>Ttc p.V52F CFLAR_ENST00000341222.6_Missense_Mutation_p.V52F|CFLAR_ENST00000457277.1_Missense_Mutation_p.V52F|CFLAR_ENST00000309955.2_Missense_Mutation_p.V52F|CFLAR_ENST00000423241.2_Missense_Mutation_p.V52F|CFLAR_ENST00000440180.1_Missense_Mutation_p.V52F|CFLAR_ENST00000341582.6_Missense_Mutation_p.V52F|CFLAR_ENST00000342795.5_Missense_Mutation_p.V52F|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Missense_Mutation_p.V52F|CFLAR_ENST00000340870.5_Missense_Mutation_p.V52F O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 52 DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 TAAGCTGTCTGTCGGGGACTT 0.498000 33 144 1.67305e-13 2.29503e-13 0.819951 1 0 PKD1L1 168507 broad.mit.edu 37 7 47897210 47897210 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:47897210G>A ENST00000289672.2 - 28 4633 c.4583C>T c.(4582-4584)cCt>cTt p.P1528L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1528 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TACCTGCCCAGGAGCTTGGCT 0.488000 18 19 0 0 0.592651 0 0 PTPRT 11122 broad.mit.edu 37 20 40727177 40727177 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:40727177C>A ENST00000373198.3 - 28 4031 c.3796G>T c.(3796-3798)Gcc>Tcc p.A1266S PTPRT_ENST00000373201.1_Missense_Mutation_p.A1234S|PTPRT_ENST00000373187.1_Missense_Mutation_p.A1244S|PTPRT_ENST00000373184.1_Missense_Mutation_p.A1254S|PTPRT_ENST00000373190.1_Missense_Mutation_p.A1243S|PTPRT_ENST00000373193.3_Missense_Mutation_p.A1247S|PTPRT_ENST00000356100.2_Missense_Mutation_p.A1253S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1244 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACGAAGGCGGCAGGCTGCTTG 0.527000 10 68 5.50884e-06 6.17229e-06 0.411799 1 0 FAT2 2196 broad.mit.edu 37 5 150885495 150885495 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:150885495G>A ENST00000261800.5 - 23 12693 c.12681C>T c.(12679-12681)ccC>ccT p.P4227P NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4227 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGGGGGAAGGGGAAGCCCC 0.642000 63 74 0 0 0.870114 0 0 ZNF443 10224 broad.mit.edu 37 19 12542043 12542043 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:12542043C>A ENST00000301547.5 - 4 1140 c.943G>T c.(943-945)Ggg>Tgg p.G315W CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 315 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 AAGGCTTTCCCACATTGTTTA 0.423000 30 71 3.11337e-16 4.55406e-16 0.769981 1 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392343 22392343 + RNA SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:22392343C>T ENST00000390440.2 + 0 105 TGAAGGTGGTCACAGCTTCAC 0.428000 6 24 0 0 0.307466 0 0 TBX20 57057 broad.mit.edu 37 7 35280585 35280585 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:35280585G>T ENST00000408931.3 - 5 1245 c.719C>A c.(718-720)aCa>aAa p.T240K NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 240 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 CAATGAGGCTGTGTGGTCTTT 0.388000 15 24 1.99824e-07 2.32792e-07 0.520397 1 0 ZDHHC6 64429 broad.mit.edu 37 10 114192139 114192139 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:114192139A>T ENST00000369405.3 - 9 1509 c.1086T>A c.(1084-1086)ggT>ggA p.G362G ZDHHC6_ENST00000369404.3_Silent_p.G358G|ZDHHC6_ENST00000482410.1_5'UTR NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 362 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) CTTACCGTAAACCTCTTGTGG 0.358000 7 121 0 0 0.278610 0 0 ACSBG2 81616 broad.mit.edu 37 19 6156446 6156446 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:6156446C>A ENST00000588304.1 + 5 687 c.241C>A c.(241-243)Ctt>Att p.L81I ACSBG2_ENST00000591403.1_Missense_Mutation_p.L131I|ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000252669.5_Missense_Mutation_p.L131I|ACSBG2_ENST00000586696.1_Missense_Mutation_p.L131I Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 131 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCCAGGGGTCTTTGTGTTGG 0.438000 24 111 9.22233e-05 0.00010024 0.681144 1 0 LOC645166 645166 broad.mit.edu 37 1 148932853 148932853 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:148932853G>T ENST00000539543.1 + 0 109 NR_027355.1 GCTGCATCCAGTACCAAGAGT 0.612000 25 181 1.17739e-12 1.58086e-12 0.693898 1 0 IGKV3D-11 28876 broad.mit.edu 37 2 90212080 90212080 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:90212080C>A ENST00000390277.2 + 0 269 CTGGTACCAGCAGAAACCTGG 0.597000 16 16 8.10497e-08 9.53841e-08 0.592651 1 0 MPDZ 8777 broad.mit.edu 37 9 13114006 13114006 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:13114006G>T ENST00000319217.7 - 41 5728 c.5481C>A c.(5479-5481)agC>agA p.S1827R MPDZ_ENST00000538841.1_Missense_Mutation_p.S686R|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1798R|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1841R|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1794R|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1827R|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1798R|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1765R|MPDZ_ENST00000541093.1_Missense_Mutation_p.S61R NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1827 Ser-rich. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) AAGATGACAGGCTGCCTTCAC 0.358000 8 9 3.09899e-07 3.59534e-07 0.307466 1 0 HOXA6 3203 broad.mit.edu 37 7 27186946 27186946 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:27186946C>A ENST00000222728.3 - 1 447 c.423G>T c.(421-423)caG>caT p.Q141H HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518947.2_RNA NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 141 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 AGTTCATCCGCTGCATCCAAG 0.557000 48 91 5.19286e-32 9.39501e-32 0.870114 1 0 AMHR2 269 broad.mit.edu 37 12 53819601 53819601 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:53819601A>T ENST00000257863.4 + 6 830 c.750A>T c.(748-750)ccA>ccT p.P250P AMHR2_ENST00000550311.1_Silent_p.P250P|AMHR2_ENST00000379791.3_Silent_p.P250P NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 250 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding p.P250P(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) ACGAACTTCCAGGCCTACAGC 0.597000 49 29 0 0 0.870114 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596806 142596806 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:142596806G>T ENST00000370503.2 - 2 347 c.264C>A c.(262-264)ggC>ggA p.G88G GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 88 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) ATAAGTCTACGCCTTCGTCCT 0.428000 60 33 8.07507e-42 1.52711e-41 0.870114 1 0 SPTA1 6708 broad.mit.edu 37 1 158581117 158581117 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:158581117C>A ENST00000368148.3 - 52 7377 c.7197G>T c.(7195-7197)cgG>cgT p.R2399R SPTA1_ENST00000368147.3_Silent_p.R2396R NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2399 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GGCTTCGACCCCGTGGGTCCA 0.443000 16 50 2.4624e-09 3.02105e-09 0.575678 1 0 POU3F2 5454 broad.mit.edu 37 6 99282917 99282917 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:99282917C>A ENST00000328345.5 + 1 338 c.168C>A c.(166-168)agC>agA p.S56R NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 56 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) ACCCGCTCAGCCACGCTCACC 0.806000 3 15 0.00909568 0.00932367 0.150653 1 0 CENPU 79682 broad.mit.edu 37 4 185646144 185646144 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:185646144G>A ENST00000281453.5 - 4 357 c.287C>T c.(286-288)tCt>tTt p.S96F MLF1IP_ENST00000541971.1_Missense_Mutation_p.S96F NM_024629.3 NP_078905.2 Q71F23 CENPU_HUMAN 96 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) AGGAGTTGAAGAGAGAGACAG 0.358000 15 93 0 0 0.608945 0 0 OR4D10 390197 broad.mit.edu 37 11 59245365 59245365 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:59245365C>T ENST00000530162.1 + 1 520 c.463C>T c.(463-465)Cac>Tac p.H155Y NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGGCTTTGTCCACTCCATCGT 0.542000 50 111 0 0 0.870114 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37490203 37490203 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:37490203C>A ENST00000374660.1 + 37 3107 c.3008C>A c.(3007-3009)cCc>cAc p.P1003H ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P884H|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P884H Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1027 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTGTGTGTACCCAAGGCTACA 0.303000 30 60 6.97489e-18 1.05321e-17 0.804634 1 0 RGS7 6000 broad.mit.edu 37 1 241031894 241031894 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:241031894C>A ENST00000366565.1 - 9 983 c.602G>T c.(601-603)aGg>aTg p.R201M RGS7_ENST00000348120.2_Missense_Mutation_p.R148M|RGS7_ENST00000331110.7_Missense_Mutation_p.R175M|RGS7_ENST00000401882.1_Missense_Mutation_p.R148M|RGS7_ENST00000366564.1_Missense_Mutation_p.R201M|RGS7_ENST00000446183.2_Missense_Mutation_p.R117M|RGS7_ENST00000366562.4_Missense_Mutation_p.R201M|RGS7_ENST00000407727.1_Missense_Mutation_p.R201M|RGS7_ENST00000366563.1_Missense_Mutation_p.R201M NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 201 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TACCACGGGCCTGTGCACGTC 0.498000 14 59 2.32078e-09 2.85088e-09 0.479597 1 0 BIN2 51411 broad.mit.edu 37 12 51685715 51685715 + Missense_Mutation SNP C C G rs146877980 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:51685715C>G ENST00000267012.4 - 10 1236 c.1175G>C c.(1174-1176)cGc>cCc p.R392P BIN2_ENST00000544402.1_Missense_Mutation_p.R366P|BIN2_ENST00000604560.1_Missense_Mutation_p.R365P|BIN2_ENST00000452142.2_Missense_Mutation_p.R360P NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 392 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 ACTTGCGGTGCGGGTTCGGAG 0.587000 39 36 0 0 0.840704 0 0 OPCML 4978 broad.mit.edu 37 11 132812898 132812898 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:132812898G>T ENST00000331898.7 - 1 668 c.90C>A c.(88-90)ccC>ccA p.P30P OPCML_ENST00000541867.1_Silent_p.P30P|OPCML_ENST00000374778.4_5'UTR|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000524381.1_Silent_p.P23P NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 30 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CGCTGCGCACGGGCACTCCTG 0.642000 22 48 4.3181e-19 6.6691e-19 0.769981 1 0 CSMD1 64478 broad.mit.edu 37 8 4494864 4494864 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:4494864C>A ENST00000520002.1 - 2 857 c.302_splice c.e2+1 p.R101_splice CSMD1_ENST00000539096.1_Splice_Site_p.R101_splice|CSMD1_ENST00000400186.3_Splice_Site_p.R101_splice|CSMD1_ENST00000602723.1_Splice_Site_p.R101_splice|CSMD1_ENST00000602557.1_Splice_Site_p.R101_splice|CSMD1_ENST00000537824.1_Splice_Site_p.R101_splice|CSMD1_ENST00000542608.1_Splice_Site_p.R101_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 101 CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GATACCTTACCTCACTTTTAA 0.318000 46 51 1.44036e-42 2.74508e-42 0.870114 1 0 PAK4 10298 broad.mit.edu 37 19 39667262 39667262 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:39667262G>T ENST00000599386.1 + 7 1114 c.933G>T c.(931-933)caG>caT p.Q311H PAK4_ENST00000358301.3_Missense_Mutation_p.Q464H|PAK4_ENST00000435673.2_Missense_Mutation_p.Q464H|PAK4_ENST00000599470.1_Missense_Mutation_p.Q311H|PAK4_ENST00000321944.4_Missense_Mutation_p.Q374H|PAK4_ENST00000360442.3_Missense_Mutation_p.Q464H|PAK4_ENST00000593690.1_Missense_Mutation_p.Q464H NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 464 GEF-interaction domain (GID).|Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) TCTGCGCCCAGGTGAGCAAGG 0.662000 46 145 1.27862e-28 2.25106e-28 0.870114 1 0 IFNA21 3452 broad.mit.edu 37 9 21166255 21166255 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:21166255C>T ENST00000380225.1 - 1 404 c.357G>A c.(355-357)ctG>ctA p.L119L NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 119 L -> M (in dbSNP:rs1053885). 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 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CGCAGGCTTCCAGGTCATTCA 0.468000 119 74 0 0 0.870114 0 0 IZUMO1 284359 broad.mit.edu 37 19 49245054 49245054 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:49245054T>A ENST00000332955.2 - 8 1293 c.746A>T c.(745-747)cAc>cTc p.H249L NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 249 Ig-like C2-type. fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) ACCTGTGACGTGAAAATTGAT 0.637000 6 8 0 0 0.248553 0 0 KIF5A 3798 broad.mit.edu 37 12 57966430 57966430 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:57966430G>A ENST00000455537.2 + 15 1911 c.1637G>A c.(1636-1638)cGa>cAa p.R546Q KIF5A_ENST00000286452.5_Missense_Mutation_p.R457Q NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 546 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 CAGCGAAAACGAATTGCTGAG 0.572000 22 126 0 0 0.639603 0 0 NEB 4703 broad.mit.edu 37 2 152484098 152484098 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:152484098G>A ENST00000397345.3 - 69 10284 c.10082C>T c.(10081-10083)aCg>aTg p.T3361M NEB_ENST00000409198.1_Missense_Mutation_p.T3118M|NEB_ENST00000172853.10_Missense_Mutation_p.T3118M|NEB_ENST00000604864.1_Missense_Mutation_p.T3361M|NEB_ENST00000427231.2_Missense_Mutation_p.T3361M|NEB_ENST00000603639.1_Missense_Mutation_p.T3361M NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3361 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGGCAGGCACGTCCACTCGTG 0.517000 65 249 0 0 0.870114 0 0 CHRNA1 1134 broad.mit.edu 37 2 175624295 175624295 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:175624295C>T ENST00000348749.5 - 2 187 c.110G>A c.(109-111)aGc>aAc p.S37N CHRNA1_ENST00000409323.1_Missense_Mutation_p.S37N|CHRNA1_ENST00000409219.1_Missense_Mutation_p.S37N|CHRNA1_ENST00000409542.1_Missense_Mutation_p.S37N|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.S37N NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 37 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 CCGCACCACGCTGCTGTAGTC 0.577000 43 161 0 0 0.864702 0 0 TRPC4 7223 broad.mit.edu 37 13 38229321 38229321 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:38229321A>G ENST00000379705.3 - 7 2645 c.1788T>C c.(1786-1788)gtT>gtC p.V596V TRPC4_ENST00000355779.2_Silent_p.V596V|TRPC4_ENST00000358477.2_Silent_p.V596V|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Silent_p.V596V|TRPC4_ENST00000379679.1_Silent_p.V423V|TRPC4_ENST00000447043.1_Silent_p.V596V|TRPC4_ENST00000338947.5_Silent_p.V423V|TRPC4_ENST00000379681.3_Silent_p.V596V Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 596 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TGGTGGCACCAACAAACTCAG 0.378000 19 22 0 0 0.639603 0 0 TMEM8A 58986 broad.mit.edu 37 16 422611 422611 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:422611C>A ENST00000431232.2 - 12 2179 c.2019_splice c.e12+1 p.W673_splice TMEM8A_ENST00000250930.3_Splice_Site_p.W480_splice NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 673 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 GGCTCCTTACCCACATGGAGG 0.622000 41 48 2.77807e-22 4.5369e-22 0.864702 1 0 DST 667 broad.mit.edu 37 6 56351960 56351960 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:56351960C>A ENST00000370754.5 - 87 20895 c.20896G>T c.(20896-20898)Gac>Tac p.D6966Y DST_ENST00000446842.2_Missense_Mutation_p.D6462Y|DST_ENST00000244364.6_Missense_Mutation_p.D4374Y|DST_ENST00000370769.4_Missense_Mutation_p.D6788Y|DST_ENST00000361203.3_Missense_Mutation_p.D6677Y|DST_ENST00000370788.2_Missense_Mutation_p.D4591Y|DST_ENST00000421834.2_Missense_Mutation_p.D4700Y|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 6786 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTCAGCATGTCATCCAGTTTC 0.453000 15 64 2.23348e-06 2.53137e-06 0.500413 1 0 LRRTM3 347731 broad.mit.edu 37 10 68687890 68687890 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:68687890C>A ENST00000361320.4 + 2 1794 c.1216C>A c.(1216-1218)Cca>Aca p.P406T CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 406 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AGAGCCCGGCCCAGAGACCGA 0.607000 20 32 6.44725e-10 8.05086e-10 0.624587 1 0 TIMD4 91937 broad.mit.edu 37 5 156378585 156378585 + Missense_Mutation SNP G G T rs146696975 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:156378585G>T ENST00000274532.2 - 3 673 c.617C>A c.(616-618)cCg>cAg p.P206Q TIMD4_ENST00000407087.3_Missense_Mutation_p.P206Q NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 206 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCTTCCTCCGGAAGGGTGCT 0.537000 59 30 3.53049e-34 6.45885e-34 0.870114 1 0 RBBP8 5932 broad.mit.edu 37 18 20562350 20562350 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:20562350G>T ENST00000399722.2 + 7 949 c.598G>T c.(598-600)Gca>Tca p.A200S RBBP8_ENST00000360790.5_Missense_Mutation_p.A200S|RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000399725.2_Missense_Mutation_p.A200S|RBBP8_ENST00000327155.5_Missense_Mutation_p.A200S NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 200 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CTCTGTGTGTGCAAATGGTAA 0.383000 Homologous recombination 51 53 3.28156e-27 5.67051e-27 0.870114 1 0 TTN 7273 broad.mit.edu 37 2 179594225 179594225 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179594225A>C ENST00000589042.1 - 64 18882 c.18658T>G c.(18658-18660)Tgt>Ggt p.C6220G TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C4976G|TTN_ENST00000591111.1_Missense_Mutation_p.C5903G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5903 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) GTAACTTCACACTCCAGCTCC 0.443000 18 74 0 0 0.575678 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60243765 60243765 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:60243765G>C ENST00000269499.5 + 14 3908 c.3490G>C c.(3490-3492)Gca>Cca p.A1164P ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A843P NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 1164 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding p.A1164P(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 ACTGAGATACGCACCTCCCCT 0.473000 12 12 0 0 0.457914 0 0 TBC1D23 55773 broad.mit.edu 37 3 100020967 100020967 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:100020967G>T ENST00000394144.4 + 11 1156 c.1149G>T c.(1147-1149)caG>caT p.Q383H TBC1D23_ENST00000344949.5_Missense_Mutation_p.Q383H|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.Q246H NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 383 Rhodanese. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 TGGAAGCACAGAAGCAGTCCA 0.443000 41 52 2.24059e-37 4.16899e-37 0.870114 1 0 BMP7 655 broad.mit.edu 37 20 55746136 55746136 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:55746136G>T ENST00000395863.3 - 7 1680 c.1175C>A c.(1174-1176)cCc>cAc p.P392H BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.P326H NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 392 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GCAGGGCTTGGGCACCGTTTC 0.532000 28 59 3.03874e-20 4.7912e-20 0.779181 1 0 CACNA1E 777 broad.mit.edu 37 1 181480627 181480627 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:181480627T>A ENST00000526775.1 + 3 658 c.493T>A c.(493-495)Ttc>Atc p.F165I CACNA1E_ENST00000367570.1_Missense_Mutation_p.F165I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F116I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F165I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F116I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F165I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 165 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGTCATGGACTTCATCGTGGT 0.512000 15 114 0 0 0.500413 0 0 SLC6A2 6530 broad.mit.edu 37 16 55706020 55706020 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:55706020G>T ENST00000379906.2 + 3 832 c.577G>T c.(577-579)Ggc>Tgc p.G193C SLC6A2_ENST00000219833.8_Missense_Mutation_p.G193C|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G193C|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G193C|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G193C|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G193C|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G88C NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 193 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GCTCCTCAATGGCTCCGTGCT 0.567000 10 49 2.80697e-09 3.43736e-09 0.387290 1 0 PIK3R2 5296 broad.mit.edu 37 19 18280081 18280081 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:18280081G>T ENST00000593731.1 + 16 2724 c.2164G>T c.(2164-2166)Ggc>Tgc p.G722C PIK3R2_ENST00000222254.7_Missense_Mutation_p.G722C O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 722 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 cccgggccccggcccgccgcc 0.771000 3 0 0.004672 0.0048371 0.115264 1 0 NCAM1 4684 broad.mit.edu 37 11 113111531 113111531 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:113111531C>A ENST00000401611.2 + 16 1861 c.1861C>A c.(1861-1863)Cct>Act p.P621T NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000533760.1_Intron P13591 NCAM1_HUMAN neural cell adhesion molecule 1 715 Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CTCGTCTACCCCTGTTCCATT 0.423000 67 191 5.2429e-30 9.31386e-30 0.870114 1 0 KCNS2 3788 broad.mit.edu 37 8 99441239 99441239 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:99441239C>A ENST00000287042.4 + 2 1382 c.1032C>A c.(1030-1032)tcC>tcA p.S344S KCNS2_ENST00000521839.1_Silent_p.S344S NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 344 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CCATCTTCTCCGTGGTGGCCT 0.582000 17 83 2.48551e-13 3.39294e-13 0.520397 1 0 NXF4 55999 broad.mit.edu 37 X 101818239 101818239 + RNA SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:101818239G>A ENST00000360035.2 + 0 829 NR_002216.1 endometrium(2)|lung(8) 10 GGGCAAGTAGGGGCAGAGCAG 0.542000 40 26 0 0 0.853193 0 0 BMP6 654 broad.mit.edu 37 6 7862668 7862668 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:7862668C>A ENST00000283147.6 + 4 1300 c.1141C>A c.(1141-1143)Cga>Aga p.R381R NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 381 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CAGCCGGCGCCGACAACAGAG 0.607000 47 38 2.47907e-22 4.05196e-22 0.870114 1 0 PSPH 5723 broad.mit.edu 37 7 56079563 56079563 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:56079563C>A ENST00000395471.3 - 8 1376 c.e8-1 PSPH_ENST00000459834.1_Splice_Site|PSPH_ENST00000275605.3_Splice_Site P78330 SERB_HUMAN phosphoserine phosphatase L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGAAAGCATCCTAAGAAGGAA 0.388000 10 91 2.74318e-10 3.47859e-10 0.335167 1 0 SRRM4 84530 broad.mit.edu 37 12 119568484 119568484 + Splice_Site SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:119568484C>T ENST00000267260.4 + 8 1004 c.614_splice c.e8-1 p.H206_splice SRRM4_ENST00000537597.1_3'UTR NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 206 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CATCCCCAGGCACCGCGGCCG 0.612000 4 26 0 0 0.150653 0 0 ZNF443 10224 broad.mit.edu 37 19 12541846 12541846 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:12541846C>T ENST00000301547.5 - 4 1337 c.1140G>A c.(1138-1140)ctG>ctA p.L380L CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 380 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 CATGACTTTGCAGTGAACTAG 0.408000 41 130 0 0 0.853193 0 0 CLCN1 1180 broad.mit.edu 37 7 143039136 143039136 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:143039136C>T ENST00000343257.2 + 15 1784 c.1697C>T c.(1696-1698)gCc>gTc p.A566V NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 566 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GTTATCTTGGCCAACATGGTG 0.542000 55 75 0 0 0.870114 0 0 TRIM49 57093 broad.mit.edu 37 11 89537462 89537462 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:89537462G>A ENST00000329758.1 - 3 504 c.176C>T c.(175-177)aCc>aTc p.T59I TRIM49_ENST00000532501.2_Missense_Mutation_p.T59I NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 59 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TATCTGCTCGGTTGACTTTGT 0.463000 9 61 0 0 0.457914 0 0 ITPR3 3710 broad.mit.edu 37 6 33638232 33638232 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:33638232C>T ENST00000374316.5 + 20 3380 c.2320C>T c.(2320-2322)Cgc>Tgc p.R774C ITPR3_ENST00000605930.1_Missense_Mutation_p.R774C Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 774 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CTTTGACCTGCGCGCCTCCTT 0.622000 73 180 0 0 0.870114 0 0 THBS2 7058 broad.mit.edu 37 6 169626277 169626277 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:169626277G>C ENST00000366787.3 - 17 2785 c.2536C>G c.(2536-2538)Cag>Gag p.Q846E XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 846 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GCCCTCACCTGGTCAGGGTTG 0.627000 46 61 0 0 0.870114 0 0 LRCH2 57631 broad.mit.edu 37 X 114357643 114357643 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:114357643G>T ENST00000317135.8 - 18 1992 c.1962_splice c.e18+1 p.N654_splice LRCH2_ENST00000538422.1_Splice_Site_p.N637_splice NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 654 CH. breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 TCTGACTTACGTTGCGAAGTT 0.398000 4 5 0.150653 0.151814 0.150653 1 0 TGM6 343641 broad.mit.edu 37 20 2398110 2398110 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:2398110G>T ENST00000202625.2 + 10 1630 c.1569G>T c.(1567-1569)cgG>cgT p.R523R TGM6_ENST00000381423.1_Silent_p.R523R NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 523 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) TCACCTCCCGGGCCCAGCGGG 0.647000 13 25 1.61879e-10 2.06612e-10 0.411799 1 0 RYR3 6263 broad.mit.edu 37 15 33895366 33895366 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:33895366C>G ENST00000389232.4 + 18 2035 c.1965C>G c.(1963-1965)gcC>gcG p.A655A RYR3_ENST00000415757.3_Silent_p.A655A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 655 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGGGCTCAGCCCAGTACAAGA 0.537000 10 141 0 0 0.479597 0 0 SCOC 60592 broad.mit.edu 37 4 141302138 141302138 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:141302138A>T ENST00000394203.3 + 4 427 c.249A>T c.(247-249)gcA>gcT p.A83A SCOC_ENST00000506322.1_Silent_p.A43A|SCOC_ENST00000502535.1_Silent_p.A43A|SCOC_ENST00000394205.3_Silent_p.A83A|SCOC_ENST00000506597.1_Silent_p.A92A|SCOC_ENST00000512749.1_Silent_p.A43A|SCOC_ENST00000394201.3_Silent_p.A120A|SCOC_ENST00000338517.4_Silent_p.A83A NM_001153585.1 NP_001147057.1 Q9UIL1 SCOC_HUMAN short coiled-coil protein 120 Golgi apparatus|nucleus protein binding kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 all_hematologic(180;0.162) GAGTAGATGCAGTTAAGGAAG 0.294000 8 35 0 0 0.361761 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325015 150325015 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:150325015C>A ENST00000328902.5 - 3 887 c.671G>T c.(670-672)tGg>tTg p.W224L GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 224 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCGTTTTCCCACATAATGGC 0.512000 49 108 3.93605e-18 5.98024e-18 0.870114 1 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994433 45994433 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:45994433C>A ENST00000400374.3 + 1 828 c.798C>A c.(796-798)tgC>tgA p.C266* TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 266 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 CCTCTCCCTGCCAGCAGGCTT 0.617000 48 141 1.56989e-16 2.32757e-16 0.870114 1 0 TEX15 56154 broad.mit.edu 37 8 30699851 30699851 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:30699851T>C ENST00000256246.2 - 1 6757 c.6683A>G c.(6682-6684)cAc>cGc p.H2228R NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2228 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTCCTAATGTGGGCCATTTT 0.358000 58 48 0 0 0.870114 0 0 ATG2A 23130 broad.mit.edu 37 11 64673642 64673642 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:64673642C>G ENST00000421419.2 - 22 3321 c.3207G>C c.(3205-3207)ttG>ttC p.L1069F ATG2A_ENST00000377264.3_Missense_Mutation_p.L1069F Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1069 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 TGGCTTTGTGCAACCGCAGTG 0.677000 4 16 0 0 0.150653 0 0 BBX 56987 broad.mit.edu 37 3 107493684 107493684 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:107493684A>G ENST00000416476.2 + 11 1245 c.1025A>G c.(1024-1026)cAa>cGa p.Q342R BBX_ENST00000406780.1_Silent_p.P678P|BBX_ENST00000402543.1_Silent_p.P678P|BBX_ENST00000415149.2_Silent_p.P678P|BBX_ENST00000325805.8_Silent_p.P678P Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGACAAAGCCAAAAGAAGACT 0.463000 23 28 0 0 0.729181 0 0 TP53I11 9537 broad.mit.edu 37 11 44956553 44956553 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:44956553A>G ENST00000533940.1 - 10 1056 c.452T>C c.(451-453)cTa>cCa p.L151P TP53I11_ENST00000525680.1_Missense_Mutation_p.L151P|TP53I11_ENST00000308212.5_Missense_Mutation_p.L151P|TP53I11_ENST00000395648.3_Missense_Mutation_p.L151P NM_001258320.1 NP_001245249.1 O14683 P5I11_HUMAN tumor protein p53 inducible protein 11 151 negative regulation of cell proliferation|response to stress integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 CGTCTCAGCTAGCGTGGCAGT 0.617000 42 55 0 0 0.870114 0 0 XIRP2 129446 broad.mit.edu 37 2 168104896 168104896 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:168104896G>A ENST00000409195.1 + 9 7083 c.6994G>A c.(6994-6996)Gag>Aag p.E2332K XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2110K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2332K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2157 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACTGTCCACAGAGAAGATAAA 0.423000 26 126 0 0 0.706142 0 0 PFKFB4 5210 broad.mit.edu 37 3 48587628 48587628 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:48587628C>T ENST00000232375.3 - 2 249 c.137G>A c.(136-138)gGc>gAc p.G46D PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_Missense_Mutation_p.G46D|PFKFB4_ENST00000541519.1_Missense_Mutation_p.G12D|PFKFB4_ENST00000536104.1_Missense_Mutation_p.G35D|PFKFB4_ENST00000416568.1_Missense_Mutation_p.G46D|PFKFB4_ENST00000383734.2_Missense_Mutation_p.G46D NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 46 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GGCGGGCAGGCCCACCATGAC 0.597000 33 46 0 0 0.804634 0 0 DNAAF1 123872 broad.mit.edu 37 16 84203606 84203606 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:84203606C>A ENST00000378553.5 + 8 1296 c.1172C>A c.(1171-1173)cCg>cAg p.P391Q DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.P391Q NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 391 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 GAGCTCTGCCCGGAAAAGCCA 0.582000 9 25 5.4927e-09 6.63927e-09 0.307466 1 0 MBD5 55777 broad.mit.edu 37 2 149247345 149247345 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:149247345A>T ENST00000407073.1 + 12 4442 c.3445A>T c.(3445-3447)Atg>Ttg p.M1149L MBD5_ENST00000404807.1_Missense_Mutation_p.M1382L NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1149 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TGGACGGAACATGGGAGGTGT 0.512000 32 54 0 0 0.788014 0 0 NBAS 51594 broad.mit.edu 37 2 15607801 15607801 + Missense_Mutation SNP C C G rs142006451 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:15607801C>G ENST00000281513.5 - 18 2030 c.2005G>C c.(2005-2007)Gtg>Ctg p.V669L NBAS_ENST00000441750.1_Missense_Mutation_p.V669L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 669 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GAAAAGTTCACTAATTTCAGT 0.338000 8 12 0 0 0.361761 0 0 DLEC1 9940 broad.mit.edu 37 3 38103700 38103700 + Nonsense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:38103700T>A ENST00000308059.6 + 4 735 c.714T>A c.(712-714)tgT>tgA p.C238* DLEC1_ENST00000452631.2_Nonsense_Mutation_p.C238*|DLEC1_ENST00000346219.3_Nonsense_Mutation_p.C238* Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 238 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CATTTAGCTGTGAGAAGCGTT 0.463000 40 21 0 0 0.847076 0 0 HOXA11 3207 broad.mit.edu 37 7 27224354 27224354 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:27224354G>T ENST00000006015.3 - 1 481 c.410C>A c.(409-411)cCa>cAa p.P137Q HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 137 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 GAAAGCCTGTGGCAGGACGCC 0.652000 T NUP98 CML 48 64 4.46115e-38 8.34023e-38 0.870114 1 0 SYNGR4 23546 broad.mit.edu 37 19 48876806 48876806 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:48876806G>A ENST00000344846.2 + 3 376 c.126G>A c.(124-126)ctG>ctA p.L42L SYNGR4_ENST00000595322.1_5'UTR|SYNGR4_ENST00000601610.1_5'UTR NM_012451.3 NP_036583.2 O95473 SNG4_HUMAN synaptogyrin 4 42 MARVEL. integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CCTCCCTGCTGACCGACGGCT 0.597000 16 62 0 0 0.575678 0 0 DCHS2 54798 broad.mit.edu 37 4 155156611 155156611 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:155156611C>A ENST00000357232.3 - 25 7827 c.7828G>T c.(7828-7830)Gtg>Ttg p.V2610L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2610 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V2610M(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTGGCATCCACAGGGACCACC 0.483000 32 80 1.49673e-21 2.41024e-21 0.819951 1 0 FBN3 84467 broad.mit.edu 37 19 8137013 8137013 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:8137013C>G ENST00000600128.1 - 63 8421 c.8007G>C c.(8005-8007)tcG>tcC p.S2669S FBN3_ENST00000270509.2_Silent_p.S2669S|FBN3_ENST00000601739.1_Silent_p.S2669S Q75N90 FBN3_HUMAN fibrillin 3 2669 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGGCTTCAGACGAGAGCAGCT 0.652000 23 142 0 0 0.693898 0 0 LYZL2 119180 broad.mit.edu 37 10 30915808 30915808 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:30915808G>A ENST00000375318.2 - 2 231 c.175C>T c.(175-177)Ctg>Ttg p.L59L NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 13 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) CCTGTGACCAGGCAGCCAATG 0.537000 11 42 0 0 0.608945 0 0 PCNT 5116 broad.mit.edu 37 21 47850466 47850466 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:47850466G>A ENST00000359568.5 + 37 8066 c.7959G>A c.(7957-7959)caG>caA p.Q2653Q PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2653 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCGCGCTTCAGGAGCTGGAGA 0.637000 5 2 0 0 0.248553 0 0 MYH1 4619 broad.mit.edu 37 17 10404000 10404000 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:10404000G>A ENST00000226207.5 - 28 3902 c.3808C>T c.(3808-3810)Cag>Tag p.Q1270* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1270 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AGCCGCTGCTGCTCCTCTTCC 0.488000 20 95 0 0 0.624587 0 0 NBAS 51594 broad.mit.edu 37 2 15679433 15679433 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:15679433C>G ENST00000281513.5 - 7 452 c.427G>C c.(427-429)Gat>Cat p.D143H NBAS_ENST00000441750.1_Missense_Mutation_p.D143H NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 143 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AGGGTACAATCGTAACTCCAT 0.443000 29 46 0 0 0.779181 0 0 FBN2 2201 broad.mit.edu 37 5 127800460 127800460 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:127800460G>C ENST00000508053.1 - 12 1757 c.783C>G c.(781-783)tgC>tgG p.C261W FBN2_ENST00000262464.4_Missense_Mutation_p.C261W|FBN2_ENST00000508989.1_Missense_Mutation_p.C228W P35556 FBN2_HUMAN fibrillin 2 261 TB 1. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AACCCCGTCGGCAGGGCTGAG 0.592000 65 61 0 0 0.870114 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438486 204438486 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:204438486C>A ENST00000367187.3 - 3 1001 c.445G>T c.(445-447)Ggc>Tgc p.G149C PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G149C NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 149 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TTGCAAGAGCCCTCTATGTCC 0.572000 8 30 2.17888e-05 2.40289e-05 0.335167 1 0 CD300A 11314 broad.mit.edu 37 17 72462878 72462878 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:72462878C>A ENST00000360141.3 + 1 324 c.36C>A c.(34-36)gtC>gtA p.V12V CD300A_ENST00000392625.3_Silent_p.V12V|CD300A_ENST00000361933.3_Silent_p.V12V|CD300A_ENST00000310828.5_Silent_p.V12V NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 12 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 TTCTCTGGGTCCCAGGTGAGA 0.662000 6 11 0.00198382 0.0020714 0.248553 1 0 PDCL2 132954 broad.mit.edu 37 4 56448285 56448285 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:56448285C>A ENST00000295645.4 - 2 228 c.127_splice c.e2+1 p.M42_splice NM_152401.2 NP_689614.2 Q8N4E4 PDCL2_HUMAN phosducin-like 2 42 endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) CGACCATACCCATTGCTTCTT 0.358000 9 43 0.00829132 0.00854824 0.361761 1 0 APLNR 187 broad.mit.edu 37 11 57003841 57003841 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:57003841G>C ENST00000606794.1 - 1 834 c.638C>G c.(637-639)cCc>cGc p.P213R NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 213 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GATGGTGAAGGGCACCACAAA 0.622000 33 105 0 0 0.840704 0 0 PHLDB3 653583 broad.mit.edu 37 19 44005998 44005998 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:44005998C>T ENST00000292140.5 - 4 782 c.422G>A c.(421-423)cGg>cAg p.R141Q PHLDB3_ENST00000599242.1_Missense_Mutation_p.R141Q NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 141 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) CAGCTCACCCCGCAGCAAGGC 0.716000 3 8 0 0 0.184627 0 0 YTHDC2 64848 broad.mit.edu 37 5 112917375 112917375 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:112917375G>T ENST00000161863.4 + 25 3829 c.3616G>T c.(3616-3618)Gaa>Taa p.E1206* NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1206 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AGCAGATACTGAATTTTCTGA 0.363000 7 13 1.08611e-07 1.27134e-07 0.387290 1 0 SAMSN1 64092 broad.mit.edu 37 21 15882746 15882746 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:15882746C>A ENST00000285670.2 - 6 824 c.650G>T c.(649-651)cGg>cTg p.R217L SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.R149L NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 149 SH3. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) AAAGCTGTCCCGGTTACTTGT 0.478000 32 41 6.29468e-14 8.76345e-14 0.804634 1 0 SLIT2 9353 broad.mit.edu 37 4 20620524 20620524 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:20620524G>T ENST00000504154.1 + 37 4734 c.4482G>T c.(4480-4482)ccG>ccT p.P1494P SLIT2_ENST00000503823.1_Silent_p.P1486P|SLIT2_ENST00000503837.1_Silent_p.P1490P|SLIT2_ENST00000273739.5_Silent_p.P1507P NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1494 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCTGTGGACCGCTGAGGAGCA 0.552000 4 29 0.00024832 0.000265497 0.150653 1 0 ZNF222 7673 broad.mit.edu 37 19 44536945 44536945 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:44536945A>T ENST00000187879.8 + 4 1280 c.1118A>T c.(1117-1119)aAc>aTc p.N373I ZNF222_ENST00000391960.3_Missense_Mutation_p.N413I|ZNF223_ENST00000591793.1_Intron NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) AACTGTGATAACTGCGGGAAG 0.428000 25 61 0 0 0.681144 0 0 STAB2 55576 broad.mit.edu 37 12 104131469 104131469 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:104131469G>C ENST00000388887.2 + 53 5812 c.5608G>C c.(5608-5610)Gac>Cac p.D1870H NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1870 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GCTCTTGTTTGACCTGGGTGT 0.483000 23 113 0 0 0.750413 0 0 COL6A3 1293 broad.mit.edu 37 2 238243382 238243382 + Missense_Mutation SNP G G T rs116655315 by1000genomes TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:238243382G>T ENST00000295550.4 - 41 9568 c.9116C>A c.(9115-9117)aCg>aAg p.T3039K COL6A3_ENST00000353578.4_Missense_Mutation_p.T2833K|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2839K|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2432K|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2838K|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2833K NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 3039 Fibronectin type-III.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GTCCGTGACCGTGAGGTTCTG 0.587000 20 49 5.35356e-11 6.93208e-11 0.639603 1 0 HOXA3 3200 broad.mit.edu 37 7 27147795 27147795 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:27147795G>T ENST00000396352.4 - 3 1270 c.1071C>A c.(1069-1071)acC>acA p.T357T HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.T357T NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 357 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 GTATGTGTGGGGTCCCATAGC 0.677000 7 22 0.00198382 0.0020714 0.248553 1 0 PXDNL 137902 broad.mit.edu 37 8 52387552 52387552 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:52387552G>T ENST00000356297.4 - 7 774 c.674C>A c.(673-675)aCa>aAa p.T225K PXDNL_ENST00000543296.1_Missense_Mutation_p.T225K NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 225 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTCCTCTACTGTTACTGAAGC 0.438000 4 5 0.00909568 0.00932367 0.150653 1 0 NINL 22981 broad.mit.edu 37 20 25443148 25443148 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:25443148C>A ENST00000278886.6 - 20 3526 c.3453G>T c.(3451-3453)caG>caT p.Q1151H NINL_ENST00000422516.1_Missense_Mutation_p.Q802H NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1151 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TGACATTGAGCTGGGATAATT 0.403000 17 83 3.51602e-12 4.66978e-12 0.575678 1 0 ZNF556 80032 broad.mit.edu 37 19 2877519 2877519 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:2877519C>A ENST00000586426.1 + 4 647 c.560C>A c.(559-561)tCc>tAc p.S187Y ZNF556_ENST00000307635.2_Missense_Mutation_p.S188Y Q9HAH1 ZN556_HUMAN zinc finger protein 556 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) AGTCGCCCTTCCTACCTACAG 0.453000 24 53 2.32416e-17 3.49603e-17 0.624587 1 0 TTN 7273 broad.mit.edu 37 2 179441817 179441817 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179441817G>T ENST00000589042.1 - 324 69469 c.69245C>A c.(69244-69246)aCc>aAc p.T23082N TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T14142N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T14017N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T14209N|TTN_ENST00000342992.6_Missense_Mutation_p.T20514N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T21441N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21441 Ig-like 118. 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) AAGTCGGCTGGTTTCTCTCTT 0.433000 12 53 0.000151284 0.000163441 0.435327 1 0 PLA2G6 8398 broad.mit.edu 37 22 38522389 38522389 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:38522389G>A ENST00000332509.3 - 10 1599 c.1416C>T c.(1414-1416)gaC>gaT p.D472D PLA2G6_ENST00000402064.1_Silent_p.D418D|PLA2G6_ENST00000490473.1_5'UTR|PLA2G6_ENST00000335539.3_Silent_p.D418D NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 472 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) TCCGCTTCTCGTCCCTCATGG 0.612000 7 92 0 0 0.248553 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793808 65793808 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:65793808C>T ENST00000312106.5 - 1 180 c.43G>A c.(43-45)Gac>Aac p.D15N NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 15 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 TTATTGGTGTCTGCCTCATTC 0.547000 43 111 0 0 0.870114 0 0 ATP2A2 488 broad.mit.edu 37 12 110780131 110780131 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:110780131G>T ENST00000395494.2 + 14 2678 c.2115G>T c.(2113-2115)atG>atT p.M705I ATP2A2_ENST00000308664.6_Missense_Mutation_p.M732I|ATP2A2_ENST00000539276.2_Missense_Mutation_p.M732I P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 732 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CCTCTGAGATGGTCCTGGCGG 0.552000 86 41 1.63053e-22 2.67396e-22 0.870114 1 0 UPB1 51733 broad.mit.edu 37 22 24896177 24896177 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:24896177C>A ENST00000326010.5 + 2 551 c.207C>A c.(205-207)ccC>ccA p.P69P UPB1_ENST00000413389.2_Intron|UPB1_ENST00000382760.2_Silent_p.P69P NM_016327.2 NP_057411.1 Q9UBR1 BUP1_HUMAN ureidopropionase, beta 69 pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) TGAGACGACCCCGCATTGTGC 0.542000 16 75 6.49762e-13 8.76018e-13 0.539581 1 0 HRH1 3269 broad.mit.edu 37 3 11301701 11301701 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:11301701G>T ENST00000397056.1 + 3 1169 c.978G>T c.(976-978)cgG>cgT p.R326R HRH1_ENST00000431010.2_Silent_p.R326R|HRH1_ENST00000438284.2_Silent_p.R326R NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 326 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CCGTCAACCGGAGCCATGGCC 0.517000 91 47 1.42366e-38 2.67174e-38 0.870114 1 0 ASTN1 460 broad.mit.edu 37 1 177000010 177000010 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:177000010T>C ENST00000367654.2 - 4 957 c.944A>G c.(943-945)cAc>cGc p.H315R ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.H315R|ASTN1_ENST00000367657.3_Missense_Mutation_p.H315R|ASTN1_ENST00000361833.2_Missense_Mutation_p.H315R O14525 ASTN1_HUMAN astrotactin 1 315 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGCTTGCTGGTGGTTGGAGTC 0.483000 29 54 0 0 0.760397 0 0 NPAP1 23742 broad.mit.edu 37 15 24922307 24922307 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:24922307C>A ENST00000329468.2 + 1 1767 c.1293C>A c.(1291-1293)gaC>gaA p.D431E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACTTGGCTGACCTGGCTACTG 0.542000 31 67 3.21399e-22 5.23574e-22 0.804634 1 0 PCLO 27445 broad.mit.edu 37 7 82764123 82764123 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:82764123C>A ENST00000423517.2 - 3 3080 c.2743G>T c.(2743-2745)Gcc>Tcc p.A915S PCLO_ENST00000333891.8_Missense_Mutation_p.A915S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 861 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.A915S(2)|p.A861S(1) 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 GATTTGGGGGCATCAGTAATA 0.502000 61 73 2.93687e-30 5.23622e-30 0.870114 1 0 HTR6 3362 broad.mit.edu 37 1 19992680 19992680 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:19992680C>T ENST00000289753.1 + 1 901 c.434C>T c.(433-435)gCc>gTc p.A145V NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 145 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CGTGCCCTGGCCCTAGTCCTG 0.706000 10 42 0 0 0.361761 0 0 DOK1 1796 broad.mit.edu 37 2 74782300 74782300 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:74782300C>T ENST00000233668.5 + 2 749 c.80C>T c.(79-81)gCc>gTc p.A27V DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Missense_Mutation_p.A27V|DOK1_ENST00000409429.1_5'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 27 PH. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AAGACCTGGGCCGTGCTCTAC 0.701000 3 36 0 0 0.217242 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51916969 51916969 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:51916969G>T ENST00000353836.5 - 9 1754 c.1533C>A c.(1531-1533)ccC>ccA p.P511P SIGLEC10_ENST00000441969.3_Silent_p.P453P|SIGLEC10_ENST00000339313.5_Silent_p.P606P|SIGLEC10_ENST00000525998.1_Silent_p.P421P|SIGLEC10_ENST00000442846.3_Silent_p.P363P|SIGLEC10_ENST00000436984.2_Silent_p.P463P|SIGLEC10_ENST00000439889.2_Silent_p.P548P|SIGLEC10_ENST00000432469.2_Silent_p.P428P|SIGLEC10_ENST00000356298.5_Silent_p.P606P NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 606 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CACTCACCAGGGGGCCAGCCG 0.547000 16 70 1.67942e-08 2.00773e-08 0.539581 1 0 SLC6A1 6529 broad.mit.edu 37 3 11076341 11076341 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:11076341A>T ENST00000287766.4 + 15 2073 c.1652A>T c.(1651-1653)tAc>tTc p.Y551F SLC6A1_ENST00000536032.1_Missense_Mutation_p.Y373F NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 551 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ATCCCCGGGTACATGGCCTAC 0.572000 98 59 0 0 0.870114 0 0 CLASP2 23122 broad.mit.edu 37 3 33614643 33614643 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:33614643G>A ENST00000399362.4 - 26 3035 c.2682C>T c.(2680-2682)ctC>ctT p.L894L CLASP2_ENST00000468888.2_Silent_p.L895L|CLASP2_ENST00000461133.3_Silent_p.L653L|CLASP2_ENST00000539981.1_Silent_p.L664L|CLASP2_ENST00000480013.1_Silent_p.L674L|CLASP2_ENST00000359576.5_Silent_p.L886L|CLASP2_ENST00000307312.7_Silent_p.L375L NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 895 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 GCAGACCTAGGAGGCCTTCTT 0.383000 125 65 0 0 0.870114 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735698 55735698 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55735698C>A ENST00000312345.2 - 1 292 c.242G>T c.(241-243)gGa>gTa p.G81V NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G81E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AGAAATATTTCCTTTCTGAGT 0.383000 28 106 1.30897e-18 2.0043e-18 0.740014 1 0 ZNF683 257101 broad.mit.edu 37 1 26688288 26688288 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:26688288C>A ENST00000436292.1 - 7 1549 c.1429G>T c.(1429-1431)Gat>Tat p.D477Y ZNF683_ENST00000374204.1_Missense_Mutation_p.D457Y|ZNF683_ENST00000349618.3_Missense_Mutation_p.D457Y|ZNF683_ENST00000403843.1_Missense_Mutation_p.D477Y Q8IZ20 ZN683_HUMAN zinc finger protein 683 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GCCATAAGATCTAGTGCCCCC 0.602000 24 141 1.30897e-18 2.0043e-18 0.740014 1 0 FAT1 2195 broad.mit.edu 37 4 187539244 187539244 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:187539244C>A ENST00000441802.2 - 10 8705 c.8496G>T c.(8494-8496)agG>agT p.R2832S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2832 Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CATCAGATGCCCTGATCTGAA 0.438000 HNSCC(5;0.00058) 25 86 4.22769e-11 5.50329e-11 0.706142 1 0 THSD7B 80731 broad.mit.edu 37 2 138378296 138378296 + Splice_Site SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:138378296G>A ENST00000409968.1 + 20 3977 c.3799_splice c.e20+1 p.G1267_splice THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Splice_Site_p.G1239_splice|THSD7B_ENST00000272643.3_Splice_Site_p.G1270_splice thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGGCCATGGAGGTATTGGTTT 0.483000 24 106 0 0 0.706142 0 0 OR13G1 441933 broad.mit.edu 37 1 247835425 247835425 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:247835425G>C ENST00000359688.2 - 1 940 c.919C>G c.(919-921)Cac>Gac p.H307D RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AACTACTAGTGTTTCAGAAAT 0.413000 12 58 0 0 0.479597 0 0 PCNXL3 399909 broad.mit.edu 37 11 65390965 65390965 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:65390965G>C ENST00000355703.3 + 12 2900 c.2361G>C c.(2359-2361)acG>acC p.T787T NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 787 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CCTGCAGGACGCGGGGAGTGC 0.627000 12 22 0 0 0.435327 0 0 SEMA3C 10512 broad.mit.edu 37 7 80427438 80427438 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:80427438C>A ENST00000265361.3 - 11 1662 c.1101G>T c.(1099-1101)caG>caT p.Q367H SEMA3C_ENST00000419255.2_Missense_Mutation_p.Q367H|SEMA3C_ENST00000544525.1_Missense_Mutation_p.Q385H|SEMA3C_ENST00000536800.1_Missense_Mutation_p.Q219H NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 367 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GAATTCTGCCCTGATAGGAAA 0.398000 22 49 2.65835e-16 3.90302e-16 0.717897 1 0 TRAV1-1 28693 broad.mit.edu 37 14 22090514 22090514 + RNA SNP G G T rs138118666 by1000genomes TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:22090514G>T ENST00000542354.1 + 0 186 TAAACTGCACGTACCAGACAT 0.488000 37 72 3.61848e-18 5.52338e-18 0.834066 1 0 GAP43 2596 broad.mit.edu 37 3 115395235 115395235 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:115395235G>T ENST00000393780.3 + 3 982 c.514G>T c.(514-516)Ggc>Tgc p.G172C GAP43_ENST00000305124.6_Missense_Mutation_p.G136C NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 136 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) GGAGAAGGCCGGCTCAGCTGA 0.587000 21 30 1.1804e-14 1.6718e-14 0.667858 1 0 FBLN2 2199 broad.mit.edu 37 3 13663316 13663316 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:13663316C>A ENST00000404922.3 + 9 2316 c.2197C>A c.(2197-2199)Cga>Aga p.R733R FBLN2_ENST00000295760.7_Intron|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000492059.1_Silent_p.R733R NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 733 EGF-like 3; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) TTGTAGCCGGCGACAGTTCTG 0.562000 57 28 9.4991e-31 1.69979e-30 0.870114 1 0 PXDNL 137902 broad.mit.edu 37 8 52336204 52336204 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:52336204C>T ENST00000356297.4 - 14 1826 c.1726G>A c.(1726-1728)Gga>Aga p.G576R PXDNL_ENST00000543296.1_Missense_Mutation_p.G576R NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 576 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCATATCTTCCCTGGTCAGGG 0.473000 6 55 0 0 0.248553 0 0 MPDZ 8777 broad.mit.edu 37 9 13216853 13216853 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:13216853C>A ENST00000319217.7 - 10 1457 c.1210G>T c.(1210-1212)Gga>Tga p.G404* MPDZ_ENST00000541718.1_Nonsense_Mutation_p.G404*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.G404*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.G404*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.G404*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.G404*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.G404* NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 404 PDZ 3. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ACAAAGATTCCTGAAGGTTCT 0.323000 13 9 1.3612e-06 1.54901e-06 0.479597 1 0 PLEC 5339 broad.mit.edu 37 8 144992728 144992728 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:144992728C>A ENST00000322810.4 - 32 11841 c.11672G>T c.(11671-11673)gGg>gTg p.G3891V PLEC_ENST00000345136.3_Missense_Mutation_p.G3754V|PLEC_ENST00000356346.3_Missense_Mutation_p.G3740V|PLEC_ENST00000436759.2_Missense_Mutation_p.G3781V|PLEC_ENST00000354589.3_Missense_Mutation_p.G3754V|PLEC_ENST00000357649.2_Missense_Mutation_p.G3758V|PLEC_ENST00000527096.1_Missense_Mutation_p.G3777V|PLEC_ENST00000354958.2_Missense_Mutation_p.G3732V|PLEC_ENST00000398774.2_Missense_Mutation_p.G3722V NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3891 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 CAGCTCGGGCCCCACGAGGCC 0.687000 11 13 6.42651e-13 8.67623e-13 0.387290 1 0 KLHL26 55295 broad.mit.edu 37 19 18779844 18779844 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:18779844G>A ENST00000300976.4 + 3 1727 c.1637G>A c.(1636-1638)cGg>cAg p.R546Q KLHL26_ENST00000599006.1_Intron NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 546 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGCCCCATGCGGGCCGGCCAG 0.652000 10 48 0 0 0.411799 0 0 DRD2 1813 broad.mit.edu 37 11 113283509 113283509 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:113283509G>T ENST00000362072.3 - 7 1251 c.907C>A c.(907-909)Cac>Aac p.H303N DRD2_ENST00000346454.3_Missense_Mutation_p.H274N|DRD2_ENST00000538967.1_Missense_Mutation_p.H305N|DRD2_ENST00000542968.1_Missense_Mutation_p.H303N|DRD2_ENST00000544518.1_Missense_Mutation_p.H302N|DRD2_ENST00000355319.2_Missense_Mutation_p.H305N NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 303 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GTCAGCTGGTGGTGGCTGGGT 0.662000 39 129 1.33661e-31 2.40492e-31 0.870114 1 0 HSPA6 3310 broad.mit.edu 37 1 161494895 161494895 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:161494895C>A ENST00000309758.4 + 1 860 c.447C>A c.(445-447)ccC>ccA p.P149P NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 149 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCACCGTGCCCGCCTATTTCA 0.637000 6 42 1.06961e-07 1.25577e-07 0.278610 1 0 TTN 7273 broad.mit.edu 37 2 179448470 179448470 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179448470C>T ENST00000589042.1 - 312 65663 c.65439G>A c.(65437-65439)caG>caA p.Q21813Q TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.Q12873Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.Q12748Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.Q12940Q|TTN_ENST00000342992.6_Silent_p.Q19245Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.Q20172Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20172 Fibronectin type-III 58. 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) CCTGGGGAATCTGGTGAGGTG 0.463000 5 15 0 0 0.217242 0 0 GFOD2 81577 broad.mit.edu 37 16 67719517 67719517 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:67719517C>A ENST00000268797.7 - 2 447 c.102G>T c.(100-102)tgG>tgT p.W34C GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 34 proteinaceous extracellular matrix binding|oxidoreductase activity breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) CAGTCTTCCCCCACAGGGCCT 0.582000 10 50 3.07112e-06 3.4687e-06 0.387290 1 0 TTN 7273 broad.mit.edu 37 2 179640877 179640877 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179640877T>A ENST00000589042.1 - 28 5938 c.5714A>T c.(5713-5715)tAt>tTt p.Y1905F TTN_ENST00000359218.5_Missense_Mutation_p.Y1859F|TTN_ENST00000460472.2_Missense_Mutation_p.Y1859F|TTN_ENST00000342175.6_Missense_Mutation_p.Y1859F|TTN_ENST00000342992.6_Missense_Mutation_p.Y1905F|TTN_ENST00000591111.1_Missense_Mutation_p.Y1905F|TTN_ENST00000360870.5_Missense_Mutation_p.Y1905F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1623 Ig-like 9. 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) ACCTGTGTCATATGATTTGCA 0.453000 117 159 0 0 0.870114 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766166 27766166 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:27766166G>T ENST00000451261.2 + 5 1553 c.1154G>T c.(1153-1155)gGt>gTt p.G385V NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TTTGCAGTGGGTGGACAAGAT 0.393000 5 8 0.0215528 0.0219326 0.217242 1 0 KIAA1549 57670 broad.mit.edu 37 7 138601522 138601522 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:138601522T>C ENST00000440172.1 - 2 2898 c.2850A>G c.(2848-2850)acA>acG p.T950T KIAA1549_ENST00000422774.1_Silent_p.T950T|KIAA1549_ENST00000242365.4_Silent_p.T900T NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 950 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CATCGGGGACTGTGATATCAC 0.562000 O BRAF pilocytic astrocytoma 27 36 0 0 0.827153 0 0 MAP4K2 5871 broad.mit.edu 37 11 64563827 64563827 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:64563827C>A ENST00000294066.2 - 24 1760 c.1669G>T c.(1669-1671)Ggc>Tgc p.G557C MAP4K2_ENST00000377350.3_Missense_Mutation_p.G549C NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 557 CNH. 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 TCAAACAGGCCTGGGAGGTCA 0.637000 30 57 1.16021e-09 1.43328e-09 0.717897 1 0 OR51D1 390038 broad.mit.edu 37 11 4661876 4661876 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:4661876G>T ENST00000357605.2 + 1 932 c.856G>T c.(856-858)Gtg>Ttg p.V286L NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTCCTCCATGTGGTTATGGC 0.532000 72 80 1.31969e-37 2.46016e-37 0.870114 1 0 MAP3K13 9175 broad.mit.edu 37 3 185191546 185191546 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:185191546G>A ENST00000265026.3 + 11 2761 c.2427G>A c.(2425-2427)caG>caA p.Q809Q MAP3K13_ENST00000443863.1_Silent_p.Q665Q|MAP3K13_ENST00000446828.1_Silent_p.Q602Q|MAP3K13_ENST00000535426.1_Silent_p.Q665Q|MAP3K13_ENST00000424227.1_Silent_p.Q809Q NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 809 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGCCTCTGCAGAAGGTAAAGT 0.483000 64 99 0 0 0.870114 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884932 24884932 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:24884932G>T ENST00000382554.3 + 9 4295 c.3977G>T c.(3976-3978)gGc>gTc p.G1326V NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1326 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGGTGTGCTGGCTTTGGTCTC 0.592000 118 166 6.80707e-84 1.35796e-83 0.870114 1 0 NFASC 23114 broad.mit.edu 37 1 204951051 204951051 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:204951051C>A ENST00000367172.4 + 21 2701 c.2373C>A c.(2371-2373)acC>acA p.T791T NFASC_ENST00000338515.6_Silent_p.T791T|NFASC_ENST00000339876.6_Silent_p.T791T|NFASC_ENST00000338586.6_Silent_p.T791T|NFASC_ENST00000513543.1_Silent_p.T787T|NFASC_ENST00000404076.1_Silent_p.T770T|NFASC_ENST00000367169.4_Silent_p.T791T|NFASC_ENST00000401399.1_Silent_p.T791T|NFASC_ENST00000404907.1_Silent_p.T787T|NFASC_ENST00000360049.4_Silent_p.T787T|NFASC_ENST00000539706.1_Silent_p.T787T|NFASC_ENST00000367171.4_Silent_p.T776T|NFASC_ENST00000367170.4_Silent_p.T791T O94856 NFASC_HUMAN neurofascin 791 Fibronectin type-III 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TGGGGCAGACCCCAGTCTACG 0.592000 8 28 3.09899e-07 3.59534e-07 0.307466 1 0 SAMD9 54809 broad.mit.edu 37 7 92731661 92731661 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:92731661G>T ENST00000379958.2 - 3 4019 c.3750C>A c.(3748-3750)ctC>ctA p.L1250L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1250 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TATAGTTTTTGAGGGCTAATT 0.279000 26 65 3.65163e-15 5.26682e-15 0.706142 1 0 PYDC1 260434 broad.mit.edu 37 16 31228216 31228216 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:31228216C>A ENST00000302964.3 - 1 464 c.134G>T c.(133-135)gGg>gTg p.G45V TRIM72_ENST00000322122.3_Intron NM_152901.2 NP_690865.1 Q8WXC3 PYDC1_HUMAN PYD (pyrin domain) containing 1 45 DAPIN. innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex|nucleus cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 ATCTAGCTGCCCGAGCGCGCC 0.647000 12 50 3.27435e-08 3.88372e-08 0.457914 1 0 TTN 7273 broad.mit.edu 37 2 179416711 179416711 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179416711C>A ENST00000589042.1 - 335 91140 c.90916G>T c.(90916-90918)Gga>Tga p.G30306* TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.G21366*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.G21241*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.G21433*|TTN_ENST00000342992.6_Nonsense_Mutation_p.G27738*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.G28665*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28665 Fibronectin type-III 121. 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) TGGCTGACTCCGTATCTGTTT 0.438000 27 47 6.32553e-13 8.54578e-13 0.681144 1 0 UGGT1 56886 broad.mit.edu 37 2 128936144 128936144 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:128936144G>T ENST00000375990.3 + 34 4146 c.e34+1 UGGT1_ENST00000259253.6_Splice_Site Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GATTTCTTCGGTCAGTCTTGT 0.358000 12 20 2.80697e-09 3.43736e-09 0.387290 1 0 IGLV4-3 28786 broad.mit.edu 37 22 23214200 23214200 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:23214200C>A ENST00000390318.2 + 0 389 CGATTGATGGCCAAGTCGGTT 0.572000 10 11 1.76689e-08 2.10846e-08 0.335167 1 0 NPR2 4882 broad.mit.edu 37 9 35800089 35800089 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:35800089A>C ENST00000342694.2 + 4 1313 c.1058A>C c.(1057-1059)cAg>cCg p.Q353P NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 353 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GAGACAATACAGGAAGGAGGC 0.522000 124 77 0 0 0.870114 0 0 COL18A1 80781 broad.mit.edu 37 21 46888395 46888395 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:46888395C>G ENST00000359759.4 + 2 1612 c.1591C>G c.(1591-1593)Cag>Gag p.Q531E COL18A1_ENST00000400337.2_Missense_Mutation_p.Q116E|COL18A1_ENST00000355480.5_Missense_Mutation_p.Q296E P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 531 TSP N-terminal. cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGACTCGGCGCAGGCCATGGT 0.637000 27 107 0 0 0.693898 0 0 GPR132 29933 broad.mit.edu 37 14 105517529 105517529 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:105517529G>A ENST00000329797.3 - 4 1856 c.945C>T c.(943-945)tcC>tcT p.S315S GPR132_ENST00000539291.2_Silent_p.S315S|GPR132_ENST00000392585.2_Silent_p.S306S NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 315 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) CTTCTTGGCGGGAATGGTCCG 0.577000 3 67 0 0 0.184627 0 0 SLC44A5 204962 broad.mit.edu 37 1 75805313 75805313 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:75805313C>G ENST00000370855.5 - 4 168 c.55G>C c.(55-57)Gat>Cat p.D19H SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.D19H|SLC44A5_ENST00000535611.1_5'UTR NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 19 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 GTCCTTGGATCACCTGCATTT 0.323000 100 223 0 0 0.870114 0 0 KLHL4 56062 broad.mit.edu 37 X 86888890 86888890 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:86888890G>C ENST00000373119.4 + 8 1836 c.1691G>C c.(1690-1692)gGt>gCt p.G564A KLHL4_ENST00000373114.4_Missense_Mutation_p.G564A NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 564 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AGCACAGTTGGTGTTGTTGCA 0.423000 33 15 0 0 0.804634 0 0 DHX8 1659 broad.mit.edu 37 17 41570159 41570159 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:41570159G>T ENST00000262415.3 + 6 686 c.614G>T c.(613-615)cGc>cTc p.R205L DHX8_ENST00000540306.1_Missense_Mutation_p.R205L NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 205 Arg/Ser-rich (RS domain). catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) caCCGATCCCGCTCTCGATCA 0.552000 74 220 1.6246e-59 3.2148e-59 0.870114 1 0 PAX5 5079 broad.mit.edu 37 9 37020633 37020633 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:37020633C>A ENST00000358127.4 - 2 286 c.212_splice c.e2+1 p.R71_splice PAX5_ENST00000377852.2_Splice_Site_p.R71_splice|PAX5_ENST00000523241.1_Splice_Site_p.R71_splice|PAX5_ENST00000414447.1_Splice_Site_p.R71_splice|PAX5_ENST00000377853.2_Splice_Site_p.R71_splice|PAX5_ENST00000377847.2_Splice_Site_p.R71_splice|PAX5_ENST00000446742.1_Splice_Site_p.R71_splice|PAX5_ENST00000520154.1_Splice_Site_p.R71_splice|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000522003.1_Intron|PAX5_ENST00000520281.1_Splice_Site_p.R71_splice NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 71 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(41) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CTGCCTTTACCTGCCAAGAAT 0.488000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 64 45 1.43161e-34 2.63379e-34 0.870114 1 0 CLDN16 10686 broad.mit.edu 37 3 190126221 190126221 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:190126221G>A ENST00000264734.2 + 4 959 c.711G>A c.(709-711)tgG>tgA p.W237* CLDN16_ENST00000456423.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 237 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GGTCCTGTTGGCTCGGAATGG 0.388000 64 113 0 0 0.870114 0 0 RGL1 23179 broad.mit.edu 37 1 183895323 183895323 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:183895323C>G ENST00000304685.3 + 19 2770 c.2309C>G c.(2308-2310)tCc>tGc p.S770C RGL1_ENST00000360851.3_Missense_Mutation_p.S735C|RGL1_ENST00000539189.1_Missense_Mutation_p.S706C|RGL1_ENST00000367531.1_Missense_Mutation_p.S770C|RGL1_ENST00000536277.1_Missense_Mutation_p.S733C NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 735 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 AAAAAGAACTCCATGGAAGAA 0.458000 14 60 0 0 0.479597 0 0 NUF2 83540 broad.mit.edu 37 1 163317666 163317666 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:163317666A>T ENST00000271452.3 + 12 1341 c.1062A>T c.(1060-1062)acA>acT p.T354T NUF2_ENST00000367900.3_Silent_p.T354T|NUF2_ENST00000524800.1_Silent_p.T307T NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 354 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) AACTTGCCACAGCACAATTCA 0.333000 13 22 0 0 0.479597 0 0 PKD2L2 27039 broad.mit.edu 37 5 137226201 137226201 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:137226201G>A ENST00000508638.1 + 2 118 c.63G>A c.(61-63)aaG>aaA p.K21K PKD2L2_ENST00000350250.4_Intron|PKD2L2_ENST00000508883.1_Silent_p.K21K|PKD2L2_ENST00000290431.5_Silent_p.K21K|PKD2L2_ENST00000502810.1_Silent_p.K21K NM_001258449.1 NP_001245378.1 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 21 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATTACAGAAAGGAAGTAGAAA 0.284000 61 62 0 0 0.870114 0 0 FAM27L 284123 broad.mit.edu 37 17 21825567 21825567 + RNA SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:21825567G>A ENST00000426869.3 + 0 271 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) tgcccggagggtgttcgggtg 0.637000 38 48 0 0 0.864702 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121676738 121676738 + Splice_Site SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:121676738T>G ENST00000393386.2 + 18 5778 c.e18+2 PTPRZ1_ENST00000449182.1_Splice_Site NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TATGTTGATGTAAGCATGTTT 0.308000 8 74 0 0 0.278610 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769532 31769532 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:31769532C>A ENST00000240587.4 - 2 1494 c.1167G>T c.(1165-1167)atG>atT p.M389I NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 389 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) TCCCACACTCCATGCACTTCA 0.552000 34 94 2.51541e-25 4.27881e-25 0.804634 1 0 DHX8 1659 broad.mit.edu 37 17 41599497 41599497 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:41599497G>T ENST00000262415.3 + 22 3418 c.3346G>T c.(3346-3348)Gcc>Tcc p.A1116S DHX8_ENST00000540306.1_Missense_Mutation_p.A1116S NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1116 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CCGTAATGCTGCCAAGAAAGA 0.517000 73 85 4.14589e-37 7.69952e-37 0.870114 1 0 C2orf71 388939 broad.mit.edu 37 2 29296112 29296112 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:29296112C>A ENST00000331664.5 - 1 1015 c.1016G>T c.(1015-1017)gGg>gTg p.G339V NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 339 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 ACCCTGCACCCCAGGGTCGCC 0.577000 9 84 0.010729 0.0109693 0.387290 1 0 GIGYF1 64599 broad.mit.edu 37 7 100282480 100282480 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:100282480G>A ENST00000275732.5 - 12 2537 c.1328C>T c.(1327-1329)tCc>tTc p.S443F GIGYF1_ENST00000471340.2_5'UTR NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 443 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCTCCAAGGAGCTGTCCTG 0.637000 16 14 0 0 0.592651 0 0 KCNB1 3745 broad.mit.edu 37 20 47989978 47989978 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:47989978C>A ENST00000371741.4 - 2 2285 c.2119G>T c.(2119-2121)Gga>Tga p.G707* NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 707 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CACTCCAGTCCAGCGACAGCA 0.597000 31 39 4.3181e-19 6.6691e-19 0.769981 1 0 GABRA4 2557 broad.mit.edu 37 4 46979085 46979085 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:46979085G>T ENST00000264318.3 - 5 1552 c.570C>A c.(568-570)ttC>ttA p.F190L NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 190 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TACAACTCCCGAATTTCAAAG 0.323000 5 38 3.59834e-05 3.94831e-05 0.217242 1 0 PSMB11 122706 broad.mit.edu 37 14 23511538 23511538 + Missense_Mutation SNP C C T rs143333062 by1000genomes TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:23511538C>T ENST00000408907.2 + 1 163 c.104C>T c.(103-105)cCt>cTt p.P35L NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 35 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) GGTTGTGACCCTCAAACCTTC 0.647000 56 117 0 0 0.870114 0 0 OR2M2 391194 broad.mit.edu 37 1 248343400 248343400 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248343400C>A ENST00000359682.2 + 1 113 c.113C>A c.(112-114)gCc>gAc p.A38D NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTTTTAGTGGCCTTCATGGGA 0.517000 57 160 6.176e-18 9.35454e-18 0.870114 1 0 KDM4C 23081 broad.mit.edu 37 9 7165314 7165314 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:7165314A>G ENST00000381309.3 + 20 3423 c.2858A>G c.(2857-2859)tAt>tGt p.Y953C KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000381306.3_Missense_Mutation_p.Y953C|KDM4C_ENST00000442236.2_Missense_Mutation_p.Y698C|KDM4C_ENST00000428870.2_Missense_Mutation_p.Y640C NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 953 Tudor 2. positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 GGCAAACTCTATGGAGCAAAA 0.483000 80 37 0 0 0.870114 0 0 NCAM1 4684 broad.mit.edu 37 11 113078637 113078637 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:113078637G>T ENST00000316851.7 + 6 799 c.799G>T c.(799-801)Gtg>Ttg p.V267L NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.V159L|NCAM1_ENST00000401611.2_Missense_Mutation_p.V276L NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 277 Ig-like C2-type 3. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CATCAAAAAGGTGGATAAGAA 0.502000 8 14 9.70103e-10 1.20298e-09 0.361761 1 0 GXYLT2 727936 broad.mit.edu 37 3 73004409 73004409 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:73004409G>A ENST00000389617.4 + 4 922 c.761G>A c.(760-762)cGc>cAc p.R254H NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 254 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 TGGTACAGCCGCTTTGCTAGG 0.478000 5 28 0 0 0.217242 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18770633 18770633 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:18770633C>G ENST00000380548.4 + 17 2590 c.2251C>G c.(2251-2253)Cgt>Ggt p.R751G NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 751 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TGTTCAGAAACGTGAGGTTCT 0.502000 5 5 0 0 0.248553 0 0 LPPR4 9890 broad.mit.edu 37 1 99772486 99772486 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:99772486C>A ENST00000370185.3 + 7 2709 c.2212C>A c.(2212-2214)Cct>Act p.P738T LPPR4_ENST00000457765.1_Missense_Mutation_p.P680T|LPPR4_ENST00000370184.1_Missense_Mutation_p.P580T NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 738 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CATTCTAATCCCTGAAAGAAG 0.493000 27 45 3.65163e-15 5.26682e-15 0.706142 1 0 USHBP1 83878 broad.mit.edu 37 19 17370739 17370739 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:17370739G>T ENST00000252597.3 - 5 908 c.735C>A c.(733-735)agC>agA p.S245R USHBP1_ENST00000431146.2_Missense_Mutation_p.S181R NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 245 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CTGCCTCAGAGCTGCTAGAAC 0.547000 14 29 0.00498961 0.00516321 0.520397 1 0 GRB7 2886 broad.mit.edu 37 17 37898907 37898907 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:37898907C>T ENST00000309156.4 + 3 501 c.244C>T c.(244-246)Cca>Tca p.P82S GRB7_ENST00000394211.3_Missense_Mutation_p.P82S|GRB7_ENST00000445327.2_Missense_Mutation_p.P105S|GRB7_ENST00000309185.3_Missense_Mutation_p.P82S|GRB7_ENST00000394204.1_Missense_Mutation_p.P82S|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Missense_Mutation_p.P82S NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 82 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTCACAGAGCCCAATTCTCGG 0.647000 18 156 0 0 0.575678 0 0 FARSB 10056 broad.mit.edu 37 2 223513513 223513513 + Splice_Site SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:223513513A>C ENST00000281828.6 - 2 323 c.58_splice c.e2-1 p.T20_splice FARSB_ENST00000536361.1_5'UTR NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 20 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) ATTCTTCGTCAGCTAGGAAAA 0.308000 8 85 0 0 0.387290 0 0 EFHC2 80258 broad.mit.edu 37 X 44091758 44091758 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:44091758G>T ENST00000420999.1 - 10 1672 c.1589C>A c.(1588-1590)aCc>aAc p.T530N NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 530 DM10 3. calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 GTAGTTTAAGGTATACTCATC 0.403000 2 1 0.004672 0.0048371 0.115264 1 0 ITGAX 3687 broad.mit.edu 37 16 31391153 31391153 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:31391153G>A ENST00000268296.4 + 25 3065 c.2944G>A c.(2944-2946)Gtg>Atg p.V982M ITGAX_ENST00000562522.1_Missense_Mutation_p.V982M NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 982 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCAGGAGGCTGTGTGGATGGA 0.587000 21 30 0 0 0.681144 0 0 PRKG1 5592 broad.mit.edu 37 10 52913082 52913082 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:52913082T>A ENST00000373980.4 + 2 887 c.470T>A c.(469-471)gTc>gAc p.V157D PRKG1_ENST00000401604.2_Missense_Mutation_p.V142D|PRKG1_ENST00000373985.1_Missense_Mutation_p.V130D NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 142 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CTGGTGTATGTCATGGAAGGT 0.438000 34 37 0 0 0.847076 0 0 IRF9 10379 broad.mit.edu 37 14 24627384 24627384 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:24627384G>C ENST00000558468.1 + 10 1300 c.1300G>C c.(1300-1302)Gct>Cct p.A434P RNF31_ENST00000559275.1_Missense_Mutation_p.A808P|RNF31_ENST00000324103.6_Missense_Mutation_p.A959P|RNF31_ENST00000382687.3_Missense_Mutation_p.A808P AGAGCCTCCAGCTGGGGCCCG 0.547000 48 68 0 0 0.870114 0 0 HJURP 55355 broad.mit.edu 37 2 234763123 234763123 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:234763123C>G ENST00000411486.2 - 1 89 c.24G>C c.(22-24)atG>atC p.M8I HJURP_ENST00000441687.1_Missense_Mutation_p.M8I|HJURP_ENST00000432087.1_Missense_Mutation_p.M8I NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 8 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) CCTCGCCCTCCATGGCGCGCA 0.667000 OREG0003841 type=REGULATORY REGION|Gene=AK074809|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 25 0 0 0.307466 0 0 OR52K2 119774 broad.mit.edu 37 11 4470977 4470977 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:4470977G>A ENST00000325719.4 + 1 453 c.408G>A c.(406-408)aaG>aaA p.K136K NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTACACCAAGGTCCTGACTG 0.552000 41 57 0 0 0.870114 0 0 DST 667 broad.mit.edu 37 6 56417155 56417155 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:56417155G>A ENST00000370754.5 - 61 16341 c.16342C>T c.(16342-16344)Cga>Tga p.R5448* DST_ENST00000446842.2_Nonsense_Mutation_p.R4944*|DST_ENST00000244364.6_Nonsense_Mutation_p.R2856*|DST_ENST00000370769.4_Nonsense_Mutation_p.R5270*|DST_ENST00000361203.3_Nonsense_Mutation_p.R5268*|DST_ENST00000370788.2_Nonsense_Mutation_p.R3182*|DST_ENST00000421834.2_Nonsense_Mutation_p.R3182*|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 5268 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCTTGGGCTCGGTCCAGTAAC 0.443000 21 49 0 0 0.667858 0 0 CENPI 2491 broad.mit.edu 37 X 100364527 100364527 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:100364527G>A ENST00000372927.1 + 4 707 c.430G>A c.(430-432)Gtg>Atg p.V144M CENPI_ENST00000218507.5_Missense_Mutation_p.V144M|CENPI_ENST00000372926.1_Missense_Mutation_p.V144M|CENPI_ENST00000423383.1_Missense_Mutation_p.V144M NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 144 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 AGAAGATTCTGTGGTTAAGGC 0.388000 162 87 0 0 0.870114 0 0 PLXNB2 23654 broad.mit.edu 37 22 50720626 50720626 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:50720626A>G ENST00000449103.1 - 19 3244 c.3104T>C c.(3103-3105)cTg>cCg p.L1035P PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1035P O15031 PLXB2_HUMAN plexin B2 1035 IPT/TIG 3. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CATGGGCTGCAGGGATTCAGC 0.687000 7 25 0 0 0.278610 0 0 SEMG2 6407 broad.mit.edu 37 20 43850567 43850567 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:43850567A>G ENST00000372769.3 + 2 384 c.294A>G c.(292-294)caA>caG p.Q98Q NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 98 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) AATCAAAACAACACCTAGGTG 0.358000 20 53 0 0 0.575678 0 0 MTOR 2475 broad.mit.edu 37 1 11181350 11181350 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:11181350C>A ENST00000361445.4 - 49 6962 c.6886G>T c.(6886-6888)Ggg>Tgg p.G2296W MTOR_ENST00000376838.1_Missense_Mutation_p.G501W NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2296 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 AGGTCGTCCCCAGCTGTATTA 0.577000 11 55 0.000151284 0.000163441 0.435327 1 0 SIN3B 23309 broad.mit.edu 37 19 16980570 16980570 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:16980570G>T ENST00000379803.1 + 14 2216 c.2202G>T c.(2200-2202)gcG>gcT p.A734A SIN3B_ENST00000595541.1_Silent_p.A292A|SIN3B_ENST00000248054.5_Silent_p.A702A NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 734 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 AGAAGCCGGCGCCAGGACCCC 0.721000 7 17 0.000157383 0.000169656 0.278610 1 0 ANK2 287 broad.mit.edu 37 4 114277412 114277412 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:114277412C>A ENST00000357077.4 + 38 7691 c.7638C>A c.(7636-7638)gtC>gtA p.V2546V ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.V2513V|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2513 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGAAGAAGTCAGCTATGAGG 0.498000 27 112 4.02929e-09 4.91884e-09 0.750413 1 0 TLE6 79816 broad.mit.edu 37 19 2987939 2987939 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:2987939C>A ENST00000246112.4 + 10 870 c.669C>A c.(667-669)tcC>tcA p.S223S TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Silent_p.S100S NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 100 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGAGGGTTCCCAAGACAGGA 0.652000 5 13 0.00116845 0.00122524 0.217242 1 0 ZEB2 9839 broad.mit.edu 37 2 145182404 145182404 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:145182404C>A ENST00000558170.2 - 4 1546 c.362G>T c.(361-363)gGg>gTg p.G121V ZEB2_ENST00000303660.4_Missense_Mutation_p.G121V|ZEB2_ENST00000409487.3_Missense_Mutation_p.G121V|ZEB2_ENST00000539609.3_Intron NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 121 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GGCTTCTGGCCCCATAGTGTC 0.438000 15 71 3.32936e-07 3.85805e-07 0.539581 1 0 RP1L1 94137 broad.mit.edu 37 8 10468635 10468635 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:10468635C>T ENST00000382483.3 - 4 3196 c.2973G>A c.(2971-2973)gaG>gaA p.E991E NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 991 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CAGGGTCCACCTCGGGGCCTC 0.642000 58 49 0 0 0.870114 0 0 OR52K1 390036 broad.mit.edu 37 11 4510516 4510516 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:4510516G>A ENST00000307632.3 + 1 408 c.386G>A c.(385-387)tGc>tAc p.C129Y NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) GTGGCCATCTGCAAGCCATTG 0.562000 7 40 0 0 0.248553 0 0 TAF2 6873 broad.mit.edu 37 8 120809951 120809951 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:120809951C>A ENST00000378164.2 - 7 1226 c.928G>T c.(928-930)Gat>Tat p.D310Y NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 310 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TAAGCCTCATCAATGAAGACA 0.353000 14 93 6.94344e-10 8.6375e-10 0.539581 1 0 PSD 5662 broad.mit.edu 37 10 104163112 104163112 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:104163112C>A ENST00000020673.5 - 17 3446 c.2920G>T c.(2920-2922)Gag>Tag p.E974* PSD_ENST00000406432.1_Nonsense_Mutation_p.E974* NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 974 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AGTGCTGCCTCCACTGCATCC 0.652000 59 42 2.49587e-40 4.70643e-40 0.870114 1 0 SPTA1 6708 broad.mit.edu 37 1 158624535 158624535 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:158624535G>T ENST00000368148.3 - 21 3082 c.2902C>A c.(2902-2904)Caa>Aaa p.Q968K SPTA1_ENST00000368147.3_Missense_Mutation_p.Q968K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 968 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCAGCCTGTTGTTGCTGAATA 0.517000 10 59 6.72482e-11 8.66765e-11 0.479597 1 0 FAT3 120114 broad.mit.edu 37 11 92538342 92538342 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:92538342G>T ENST00000298047.6 + 10 8937 c.8920G>T c.(8920-8922)Gct>Tct p.A2974S FAT3_ENST00000525166.1_Missense_Mutation_p.A2824S|FAT3_ENST00000409404.2_Missense_Mutation_p.A2974S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2974 Cadherin 27. 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) AGGAAGGTTTGCTCTGGGCCT 0.438000 TCGA Ovarian(4;0.039) 22 51 3.65163e-15 5.26682e-15 0.706142 1 0 KRT31 3881 broad.mit.edu 37 17 39551720 39551720 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:39551720G>T ENST00000251645.2 - 4 796 c.744C>A c.(742-744)acC>acA p.T248T NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 248 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) CCACCTGCGTGGTGAACCATT 0.622000 34 117 1.26612e-14 1.79063e-14 0.779181 1 0 NTMT1 28989 broad.mit.edu 37 9 132397634 132397634 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:132397634A>G ENST00000372486.1 + 4 912 c.563A>G c.(562-564)gAc>gGc p.D188G NTMT1_ENST00000372480.1_Missense_Mutation_p.D188G|NTMT1_ENST00000372483.4_Missense_Mutation_p.D188G|NTMT1_ENST00000482347.1_Missense_Mutation_p.D100G|NTMT1_ENST00000372481.3_3'UTR N-terminal Xaa-Pro-Lys N-methyltransferase 1 CGGGACCTTGACGTGGTCCGC 0.612000 46 48 0 0 0.870114 0 0 DLG5 9231 broad.mit.edu 37 10 79581114 79581114 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:79581114G>A ENST00000372391.2 - 15 3133 c.3128C>T c.(3127-3129)cCa>cTa p.P1043L DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1043 Pro-rich. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACTAGTGGATGGGGAGCTGCC 0.647000 8 8 0 0 0.307466 0 0 MXRA7 439921 broad.mit.edu 37 17 74679993 74679993 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:74679993C>A ENST00000375036.2 - 4 574 c.517G>T c.(517-519)Gac>Tac p.D173Y MXRA7_ENST00000589082.1_Missense_Mutation_p.D18Y|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000585519.1_Intron NM_001008529.1 NP_001008529.1 P84157 MXRA7_HUMAN matrix-remodelling associated 7 0 integral to membrane kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 GAAGTGAGGTCAGAGGTCAGC 0.507000 50 51 8.72158e-25 1.47845e-24 0.870114 1 0 PEX5L 51555 broad.mit.edu 37 3 179754382 179754382 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:179754382G>A ENST00000467460.1 - 1 336 c.6C>T c.(4-6)taC>taT p.Y2Y PEX5L_ENST00000465751.1_Silent_p.Y2Y|PEX5L_ENST00000485199.1_Silent_p.Y2Y|PEX5L_ENST00000263962.8_Silent_p.Y2Y|PEX5L_ENST00000472994.1_Silent_p.Y2Y NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 2 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TGTGTCCCTGGTACATTCTGC 0.522000 66 201 0 0 0.870114 0 0 BZRAP1-AS1 100506779 broad.mit.edu 37 17 56408597 56408597 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:56408597G>T ENST00000579527.1 + 0 351 BZRAP1-AS1_ENST00000578334.1_RNA|MIR142_ENST00000579003.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|MIR142_ENST00000384835.1_RNA GAAGCCCACAGTACACTCATC 0.587000 6 82 0.000442599 0.000469634 0.335167 1 0 NOTCH4 4855 broad.mit.edu 37 6 32188036 32188036 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:32188036C>T ENST00000375023.3 - 7 1323 c.1185G>A c.(1183-1185)atG>atA p.M395I NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 395 EGF-like 10. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGCTCAGACACATGTCTTCCA 0.607000 57 56 0 0 0.870114 0 0 OR6M1 390261 broad.mit.edu 37 11 123676682 123676682 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:123676682C>A ENST00000309154.2 - 1 413 c.376G>T c.(376-378)Gac>Tac p.D126Y NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D126N(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TGCAGTGGGTCGCAGATAGCC 0.522000 20 29 4.35082e-09 5.29161e-09 0.592651 1 0 PCDHA6 56142 broad.mit.edu 37 5 140208045 140208045 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140208045G>A ENST00000529310.1 + 1 483 c.369G>A c.(367-369)gtG>gtA p.V123V PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.V123V|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGTGGAGGTGAGGGACATTA 0.592000 140 91 0 0 0.870114 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785450 37785450 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:37785450A>G ENST00000314103.4 + 12 1481 c.1330A>G c.(1330-1332)Aca>Gca p.T444A NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 444 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 CCCAGCCCCAACAGTCATCAG 0.642000 12 4 0 0 0.457914 0 0 IGF2 3481 broad.mit.edu 37 11 2161445 2161445 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:2161445C>A ENST00000434045.2 - 2 466 c.82G>T c.(82-84)Ggg>Tgg p.G28W IGF2_ENST00000337883.6_Intron|IGF2_ENST00000381389.1_Intron|IGF2_ENST00000300632.5_Intron NM_001127598.1 NP_001121070.1 P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 0 B. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) ATGGTTACCCCGTCCTCAGTG 0.557000 25 31 7.38237e-10 9.17189e-10 0.706142 1 0 FKTN 2218 broad.mit.edu 37 9 108366500 108366500 + Missense_Mutation SNP G G A rs142783718 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:108366500G>A ENST00000223528.2 + 5 498 c.374G>A c.(373-375)gGc>gAc p.G125D FKTN_ENST00000357998.5_Missense_Mutation_p.G125D|FKTN_ENST00000540160.1_Missense_Mutation_p.G125D|FKTN_ENST00000448551.2_Missense_Mutation_p.G125D|FKTN_ENST00000602661.1_Missense_Mutation_p.G125D NM_006731.2 NP_006722.2 O75072 FKTN_HUMAN fukutin 125 G -> S (in a patient diagnosed with Walker-Warburg syndrome; dbSNP:rs34006675). muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 25 TTCTAGGAAGGCTGGTTTCGG 0.378000 47 34 0 0 0.870114 0 0 OTOA 146183 broad.mit.edu 37 16 21726376 21726376 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:21726376G>T ENST00000388958.3 + 13 1392 c.1391G>T c.(1390-1392)aGc>aTc p.S464I OTOA_ENST00000286149.4_Missense_Mutation_p.S478I|OTOA_ENST00000388956.4_Missense_Mutation_p.S385I|OTOA_ENST00000388957.3_Missense_Mutation_p.S140I NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 478 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GCCTTCTGCAGCATGAAACGC 0.587000 89 175 5.77035e-48 1.11708e-47 0.870114 1 0 SYTL2 54843 broad.mit.edu 37 11 85435690 85435690 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:85435690G>A ENST00000359152.5 - 1 3381 c.3382C>T c.(3382-3384)Ctt>Ttt p.L1128F SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.L604F|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.L604F NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TCTTTAAGAAGTTTCTCAAAA 0.448000 11 66 0 0 0.411799 0 0 TTN 7273 broad.mit.edu 37 2 179408637 179408637 + Nonsense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179408637G>C ENST00000589042.1 - 346 96458 c.96234C>G c.(96232-96234)taC>taG p.Y32078* TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y23138*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y23013*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y23205*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y29510*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y30437*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30437 Fibronectin type-III 132. 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) TTCCAGCATCGTACCGATTAA 0.413000 48 72 0 0 0.870114 0 0 IGSF3 3321 broad.mit.edu 37 1 117122168 117122168 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:117122168C>G ENST00000369486.3 - 10 3945 c.3180G>C c.(3178-3180)ccG>ccC p.P1060P IGSF3_ENST00000318837.6_Silent_p.P1080P|IGSF3_ENST00000369483.1_Silent_p.P1080P NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 1060 Ig-like C2-type 8. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGTAGAGCACCGGGGAGAGCC 0.632000 10 30 0 0 0.387290 0 0 TRPM6 140803 broad.mit.edu 37 9 77377781 77377781 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:77377781C>A ENST00000451710.3 - 26 4043 c.3806G>T c.(3805-3807)gGa>gTa p.G1269V TRPM6_ENST00000449912.2_Missense_Mutation_p.G1264V|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1269V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1264V|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1269V Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1269 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTTCTTCTCTCCAGCGATCTC 0.532000 41 44 6.18754e-15 8.87228e-15 0.870114 1 0 CSTF2T 23283 broad.mit.edu 37 10 53458951 53458951 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:53458951T>A ENST00000331173.4 - 1 404 c.359A>T c.(358-360)gAt>gTt p.D120V PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 120 mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) ATCTTCTGGATCGATGGGATC 0.522000 38 35 0 0 0.847076 0 0 MYCBP2 23077 broad.mit.edu 37 13 77739436 77739436 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:77739436C>T ENST00000407578.2 - 42 6697 c.6431G>A c.(6430-6432)gGa>gAa p.G2144E MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G2106E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G2106E NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AAATTCATATCCAATTGCAAA 0.343000 28 34 0 0 0.706142 0 0 ADAM12 8038 broad.mit.edu 37 10 127787005 127787005 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:127787005G>T ENST00000368679.4 - 10 1294 c.985C>A c.(985-987)Cag>Aag p.Q329K ADAM12_ENST00000368676.4_Missense_Mutation_p.Q329K NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 329 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CCCCCAGACTGGTCTGCCGTG 0.468000 87 105 4.65105e-59 9.19438e-59 0.870114 1 0 SPOCD1 90853 broad.mit.edu 37 1 32280167 32280167 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:32280167G>T ENST00000360482.2 - 2 897 c.768C>A c.(766-768)tgC>tgA p.C256* SPOCD1_ENST00000533231.1_Nonsense_Mutation_p.C256*|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Nonsense_Mutation_p.C256* NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 256 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) AGGGAGGTCTGCAAGGGCCTC 0.592000 30 37 2.81731e-10 3.56569e-10 0.750413 1 0 LPL 4023 broad.mit.edu 37 8 19818412 19818412 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:19818412G>T ENST00000311322.8 + 8 1610 c.1139_splice c.e8-1 p.L380_splice NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 380 Heparin-binding (By similarity).|PLAT. fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) TTTTGTTTAGGCCTGAAGTTT 0.353000 15 31 1.67942e-08 2.00773e-08 0.539581 1 0 EMX1 2016 broad.mit.edu 37 2 73145381 73145381 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:73145381C>T ENST00000258106.6 + 1 778 c.400C>T c.(400-402)Cac>Tac p.H134Y EMX1_ENST00000394111.5_Intron NM_004097.2 NP_004088.2 Q04741 EMX1_HUMAN empty spiracles homeobox 1 101 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(3) 6 GCATCCGGCGCACCAGCTGGG 0.741000 7 40 0 0 0.278610 0 0 MAGED2 10916 broad.mit.edu 37 X 54841723 54841723 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:54841723G>T ENST00000375068.1 + 12 1662 c.1429G>T c.(1429-1431)Gag>Tag p.E477* MAGED2_ENST00000347546.3_Nonsense_Mutation_p.E421*|MAGED2_ENST00000343474.6_Nonsense_Mutation_p.E459*|MAGED2_ENST00000375053.2_Nonsense_Mutation_p.E477*|MAGED2_ENST00000375062.4_Nonsense_Mutation_p.E392*|MAGED2_ENST00000375060.1_Nonsense_Mutation_p.E392*|MAGED2_ENST00000396224.1_Nonsense_Mutation_p.E477*|MAGED2_ENST00000375058.1_Nonsense_Mutation_p.E477*|MAGED2_ENST00000218439.4_Nonsense_Mutation_p.E477* Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 477 MAGE. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 TCAGTACCGAGAGGCGATGGA 0.507000 7 10 0.00198382 0.0020714 0.248553 1 0 DLGAP1 9229 broad.mit.edu 37 18 3879965 3879965 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:3879965C>T ENST00000315677.3 - 4 699 c.104G>A c.(103-105)aGc>aAc p.S35N DLGAP1_ENST00000584874.1_Missense_Mutation_p.S35N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S35N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S35N|DLGAP1-AS3_ENST00000577649.1_RNA NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 35 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CTCCACTGGGCTCAGCAGGTA 0.667000 46 105 0 0 0.870114 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188289 70188289 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:70188289C>A ENST00000320256.4 - 1 1108 c.532G>T c.(532-534)Gcc>Tcc p.A178S NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 178 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 TGGCTGGGGGCAGCCCCAGGG 0.587000 25 23 1.80694e-10 2.30177e-10 0.740014 1 0 POLD1 5424 broad.mit.edu 37 19 50918805 50918805 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:50918805C>T ENST00000440232.2 + 21 2728 c.2675C>T c.(2674-2676)tCc>tTc p.S892F POLD1_ENST00000595904.1_Missense_Mutation_p.S918F|POLD1_ENST00000599857.1_Missense_Mutation_p.S892F NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 892 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CGCGCGGCCTCCGACTATGCC 0.677000 DNA polymerases (catalytic subunits) 8 20 0 0 0.361761 0 0 IGKV1-8 28942 broad.mit.edu 37 2 89292000 89292000 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:89292000G>T ENST00000495489.1 - 0 325 TGGTGAGAGTGAAATCTGTCC 0.463000 42 184 1.48734e-19 2.30984e-19 0.864702 1 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48906570 48906570 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:48906570G>T ENST00000394754.1 + 11 3652 c.3538G>T c.(3538-3540)Gca>Tca p.A1180S STON1-GTF2A1L_ENST00000402114.2_Intron|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.A442S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.A1180S|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.A476S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.A1133S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.A1180S NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1133 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CATTGGTGATGCAGAGTGGTA 0.348000 18 105 4.54149e-19 7.0086e-19 0.624587 1 0 FLG 2312 broad.mit.edu 37 1 152285755 152285755 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:152285755A>G ENST00000368799.1 - 3 1642 c.1607T>C c.(1606-1608)gTa>gCa p.V536A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 536 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCTATTTACCGATTGCTC 0.582000 Ichthyosis 129 481 0 0 0.870114 0 0 METTL4 64863 broad.mit.edu 37 18 2539038 2539038 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:2539038C>T ENST00000574538.1 - 9 2155 c.1380G>A c.(1378-1380)caG>caA p.Q460Q METTL4_ENST00000319888.6_3'UTR NM_022840.3 NP_073751.3 Q8N3J2 METL4_HUMAN methyltransferase like 4 460 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 AATCCACATGCTGAAATTTGA 0.388000 44 99 0 0 0.870114 0 0 ASPM 259266 broad.mit.edu 37 1 197055933 197055933 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:197055933C>A ENST00000367409.4 - 27 10587 c.10331_splice c.e27+1 p.R3444_splice ASPM_ENST00000294732.7_Splice_Site_p.R1859_splice|ASPM_ENST00000367408.1_Splice_Site_p.R1109_splice NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3444 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AATTGCTTACCTTGAAACTAT 0.299000 12 83 0.00244969 0.00255377 0.457914 1 0 WHSC1L1 54904 broad.mit.edu 37 8 38196064 38196064 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:38196064T>A ENST00000317025.8 - 3 1254 c.737A>T c.(736-738)gAg>gTg p.E246V WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E246V|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.E246V|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E246V NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 246 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGGGGCTTCCTCTTTTAGTAC 0.378000 T NUP98 AML 58 49 0 0 0.870114 0 0 SLC7A2 6542 broad.mit.edu 37 8 17400986 17400986 + Missense_Mutation SNP C C A rs147447455 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:17400986C>A ENST00000470360.1 + 4 375 c.258C>A c.(256-258)agC>agA p.S86R SLC7A2_ENST00000522656.1_Missense_Mutation_p.S46R|SLC7A2_ENST00000494857.1_Missense_Mutation_p.S46R|SLC7A2_ENST00000398090.3_Missense_Mutation_p.S86R|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S86R P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 46 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) GCGTTGGAAGCACCCTTGGGG 0.587000 23 21 1.68575e-08 2.01286e-08 0.717897 1 0 CMYA5 202333 broad.mit.edu 37 5 79032431 79032431 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:79032431G>C ENST00000446378.2 + 2 7874 c.7843G>C c.(7843-7845)Gta>Cta p.V2615L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2615 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGCAAAGGCAGTAGGAACCCA 0.413000 25 29 0 0 0.740014 0 0 PRDM16 63976 broad.mit.edu 37 1 3347458 3347458 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:3347458G>T ENST00000378398.3 + 16 3389 c.3307G>T c.(3307-3309)Ggc>Tgc p.G1103C PRDM16_ENST00000511072.1_Missense_Mutation_p.G1104C|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G1102C|PRDM16_ENST00000441472.2_Missense_Mutation_p.G1102C|PRDM16_ENST00000514189.1_Missense_Mutation_p.G1103C|PRDM16_ENST00000270722.5_Missense_Mutation_p.G1103C|PRDM16_ENST00000378391.2_Missense_Mutation_p.G1103C Q9HAZ2 PRD16_HUMAN PR domain containing 16 1103 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GATCGTGGACGGCAGTGCCCA 0.607000 T EVI1 """MDS, AML""" 9 60 3.86212e-05 4.2283e-05 0.361761 1 0 CTSG 1511 broad.mit.edu 37 14 25042903 25042903 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:25042903G>T ENST00000216336.2 - 5 744 c.708C>A c.(706-708)ccC>ccA p.P236P NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 236 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) TCCTTATCCAGGGCAGGAAAC 0.552000 46 146 2.43468e-25 4.14508e-25 0.870114 1 0 GSK3B 2932 broad.mit.edu 37 3 119812255 119812255 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:119812255G>C ENST00000264235.8 - 1 1009 c.27C>G c.(25-27)tcC>tcG p.S9S GSK3B_ENST00000316626.5_Silent_p.S9S NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 9 axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) TCTCCGCAAAGGAGGTGGTTC 0.493000 50 77 0 0 0.870114 0 0 SCYL2 55681 broad.mit.edu 37 12 100723014 100723014 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:100723014G>A ENST00000360820.2 + 13 2115 c.1678G>A c.(1678-1680)Gga>Aga p.G560R NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 560 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 TAAGAAGTTGGGAATCACCAA 0.323000 38 28 0 0 0.827153 0 0 CLDN11 5010 broad.mit.edu 37 3 170141062 170141062 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:170141062G>T ENST00000064724.3 + 2 540 c.338G>T c.(337-339)gGt>gTt p.G113V CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Missense_Mutation_p.G113V|CLDN11_ENST00000451576.1_Missense_Mutation_p.G113V NM_005602.5 NP_005593.2 O75508 CLD11_HUMAN claudin 11 113 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CAGGAGCCCGGTGTGGCTAAG 0.602000 20 127 8.24728e-16 1.19922e-15 0.681144 1 0 ZNF638 27332 broad.mit.edu 37 2 71627288 71627288 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:71627288C>G ENST00000409544.1 + 14 3264 c.2634C>G c.(2632-2634)aaC>aaG p.N878K ZNF638_ENST00000355812.3_Missense_Mutation_p.N878K|ZNF638_ENST00000264447.4_Missense_Mutation_p.N878K NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 878 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 CCACTGAAAACTGTGCTAAAG 0.284000 6 31 0 0 0.278610 0 0 EDEM1 9695 broad.mit.edu 37 3 5229961 5229961 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:5229961C>T ENST00000600805.1 - 1 21 c.22G>A c.(22-24)Ggg>Agg p.G8R EDEM1_ENST00000256497.4_Silent_p.P157P AGCTCAACCCCATCCACTGCC 0.736000 22 5 0 0 0.681144 0 0 ZNF845 91664 broad.mit.edu 37 19 53855530 53855530 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:53855530G>C ENST00000458035.1 + 4 1719 c.1602G>C c.(1600-1602)cgG>cgC p.R534R ZNF845_ENST00000595091.1_Silent_p.R534R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 534 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 CCTTTAGTCGGAAGTCATCCC 0.403000 17 52 0 0 0.654019 0 0 BAI3 577 broad.mit.edu 37 6 69949085 69949085 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:69949085C>A ENST00000370598.1 + 20 3602 c.2781C>A c.(2779-2781)ctC>ctA p.L927L BAI3_ENST00000238918.8_Silent_p.L133L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 927 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CCAATATCCTCATACTGGTTG 0.343000 78 120 9.37156e-40 1.7621e-39 0.870114 1 0 PTBP3 9991 broad.mit.edu 37 9 114994496 114994496 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:114994496A>T ENST00000334318.6 - 10 1182 c.996T>A c.(994-996)ccT>ccA p.P332P PTBP3_ENST00000343327.2_Silent_p.P234P|PTBP3_ENST00000374257.1_Silent_p.P301P|PTBP3_ENST00000458258.1_Silent_p.P335P|PTBP3_ENST00000374255.2_Silent_p.P329P NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 329 anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding CAAGAGCTCCAGGAACAGCTG 0.388000 14 17 0 0 0.479597 0 0 ZNF835 90485 broad.mit.edu 37 19 57176502 57176502 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:57176502C>A ENST00000537055.2 - 2 296 c.65G>T c.(64-66)gGc>gTc p.G22V NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CTCAACCTGGCCCTCGTGTTT 0.602000 11 25 3.07112e-06 3.4687e-06 0.387290 1 0 IQGAP2 10788 broad.mit.edu 37 5 75888672 75888672 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:75888672A>G ENST00000274364.6 + 9 1126 c.829A>G c.(829-831)Att>Gtt p.I277V IQGAP2_ENST00000379730.3_5'UTR NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 277 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAATAGCTGTATTTCAGAAGA 0.323000 41 30 0 0 0.859065 0 0 FER 2241 broad.mit.edu 37 5 108219132 108219132 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:108219132A>T ENST00000281092.4 + 9 1343 c.959A>T c.(958-960)cAg>cTg p.Q320L FER_ENST00000438717.2_Missense_Mutation_p.Q145L|FER_ENST00000536402.1_Intron NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 320 intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ATGCAAACACAGCAGATGCTT 0.338000 42 43 0 0 0.870114 0 0 SNHG14 104472715 broad.mit.edu 37 15 25232061 25232061 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:25232061G>T ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 GGAGTGGTAGGAGGAGGGTTG 0.463000 5 83 0.0215528 0.0219326 0.217242 1 0 FCRL1 115350 broad.mit.edu 37 1 157771975 157771975 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:157771975A>C ENST00000358292.3 - 5 667 c.616T>G c.(616-618)Tct>Gct p.S206A FCRL1_ENST00000491942.1_Missense_Mutation_p.S206A|FCRL1_ENST00000368176.3_Missense_Mutation_p.S206A|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 206 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATTGGGCGAGACACCGGGACT 0.582000 8 60 0 0 0.335167 0 0 RASGRP2 10235 broad.mit.edu 37 11 64507485 64507485 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:64507485C>A ENST00000377494.1 - 5 1444 c.522_splice c.e5+1 p.L174_splice RASGRP2_ENST00000377497.3_Splice_Site_p.L174_splice|RASGRP2_ENST00000394432.3_Splice_Site_p.L174_splice|RASGRP2_ENST00000354024.3_Splice_Site_p.L174_splice Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 174 Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGGGCCGCACCAGGATCTTGC 0.607000 26 58 3.67414e-24 6.14863e-24 0.760397 1 0 OR7E24 26648 broad.mit.edu 37 19 9361777 9361777 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9361777G>A ENST00000456448.1 + 1 172 c.58G>A c.(58-60)Gag>Aag p.E20K NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 GAGCTACACAGAGCCACAGAA 0.458000 7 13 0 0 0.248553 0 0 SERPINB10 5273 broad.mit.edu 37 18 61584737 61584737 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:61584737T>C ENST00000238508.3 + 3 275 c.216T>C c.(214-216)agT>agC p.S72S NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) ACCCTGAAAGTGAAAAAAAAA 0.279000 3 13 0 0 0.184627 0 0 FCGR2B 2213 broad.mit.edu 37 1 161641210 161641210 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:161641210C>A ENST00000367962.4 + 3 289 c.162C>A c.(160-162)ctC>ctA p.L54L FCGR2B_ENST00000236937.9_Silent_p.L54L|FCGR2B_ENST00000428605.2_Silent_p.L54L|FCGR2B_ENST00000403078.3_Silent_p.L54L|FCGR2B_ENST00000367960.5_Silent_p.L47L|FCGR2B_ENST00000367961.4_Silent_p.L47L|FCGR2B_ENST00000358671.5_Silent_p.L54L P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor (CD32) 54 Ig-like C2-type 1. immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGCTGAAACTCGAGCCCCAGT 0.582000 T ? ALL 25 52 2.12542e-12 2.83052e-12 0.706142 1 0 P2RX6 9127 broad.mit.edu 37 22 21377680 21377680 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:21377680G>A ENST00000413302.2 + 7 903 c.755G>A c.(754-756)gGg>gAg p.G252E P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Missense_Mutation_p.G199E|P2RX6_ENST00000336296.2_Missense_Mutation_p.G242E|P2RX6_ENST00000401443.1_Missense_Mutation_p.G226E O15547 P2RX6_HUMAN purinergic receptor P2X, ligand-gated ion channel, 6 252 muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity AAGGCTGGAGGGACCTTCGAG 0.627000 11 45 0 0 0.411799 0 0 GSDMD 79792 broad.mit.edu 37 8 144644999 144644999 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:144644999G>T ENST00000526406.1 + 14 2263 c.1380G>T c.(1378-1380)ccG>ccT p.P460P GSDMD_ENST00000262580.4_Silent_p.P460P|GSDMD_ENST00000533063.1_Silent_p.P508P NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 460 SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 GCTGGGAGCCGCAGGCCCAGG 0.682000 8 26 0.000274275 0.000292451 0.307466 1 0 CACNA1E 777 broad.mit.edu 37 1 181767564 181767564 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:181767564C>A ENST00000526775.1 + 46 6515 c.6350C>A c.(6349-6351)gCg>gAg p.A2117E CACNA1E_ENST00000367570.1_Missense_Mutation_p.A2136E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A2068E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1743E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A2160E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A2130E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A2179E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2179 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATTCGACACGCGGGCAGCATC 0.627000 31 61 9.17885e-22 1.48541e-21 0.779181 1 0 GRM1 2911 broad.mit.edu 37 6 146720441 146720441 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:146720441C>T ENST00000392299.2 + 8 2736 c.2266C>T c.(2266-2268)Cct>Tct p.P756S GRM1_ENST00000282753.1_Missense_Mutation_p.P756S|GRM1_ENST00000507907.1_Missense_Mutation_p.P756S|GRM1_ENST00000492807.2_Missense_Mutation_p.P756S|GRM1_ENST00000355289.4_Missense_Mutation_p.P756S|GRM1_ENST00000361719.2_Missense_Mutation_p.P756S Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 756 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TGTGGTGGCCCCTTTGGGCTA 0.512000 46 54 0 0 0.870114 0 0 XIRP1 165904 broad.mit.edu 37 3 39227743 39227743 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:39227743G>C ENST00000340369.3 - 2 3422 c.3194C>G c.(3193-3195)gCc>gGc p.A1065G XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.A1065G NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1065 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CAGGCTCTGGGCTTCAGCTGT 0.632000 26 27 0 0 0.681144 0 0 PCDH10 57575 broad.mit.edu 37 4 134073168 134073168 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:134073168G>A ENST00000264360.4 + 1 2699 c.1873G>A c.(1873-1875)Gaa>Aaa p.E625K NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 625 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GCGTGGCAACGAAATGAACCT 0.687000 20 80 0 0 0.654019 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744805 62744805 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:62744805G>T ENST00000377871.3 - 9 1682 c.1416C>A c.(1414-1416)agC>agA p.S472R SLC22A6_ENST00000360421.4_Missense_Mutation_p.S472R|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 472 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TCACCAGTGGGCTCACGATGC 0.622000 32 36 2.2171e-23 3.67272e-23 0.740014 1 0 EIF2AK4 440275 broad.mit.edu 37 15 40268812 40268812 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:40268812C>T ENST00000263791.5 + 12 2059 c.2016C>T c.(2014-2016)tcC>tcT p.S672S EIF2AK4_ENST00000382727.2_Silent_p.S672S NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 672 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCCCGGACTCCGGGCCCCTGG 0.716000 7 7 0 0 0.278610 0 0 OR8K5 219453 broad.mit.edu 37 11 55926946 55926946 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55926946G>T ENST00000313447.1 - 1 847 c.848C>A c.(847-849)cCc>cAc p.P283H NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GTTAAGCATGGGGATTACTAA 0.363000 41 48 2.215e-12 2.94783e-12 0.859065 1 0 AHNAK2 113146 broad.mit.edu 37 14 105410091 105410091 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:105410091G>T ENST00000333244.5 - 7 11816 c.11697C>A c.(11695-11697)gtC>gtA p.V3899V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3899 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTTGAGGTCGACTTTGGGCA 0.577000 87 164 9.42799e-54 1.84518e-53 0.870114 1 0 IGKV1D-8 28904 broad.mit.edu 37 2 90260145 90260145 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:90260145G>T ENST00000471857.1 + 0 429 GTCCCATCAAGGTTCAGTGGC 0.458000 34 35 4.00102e-26 6.84743e-26 0.819951 1 0 ZFR2 23217 broad.mit.edu 37 19 3816706 3816706 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:3816706C>A ENST00000262961.4 - 13 2079 c.2069G>T c.(2068-2070)cGg>cTg p.R690L NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 690 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GGCGATCCTCCGCAGCAGGCT 0.687000 10 29 1.49906e-05 1.65877e-05 0.457914 1 0 SBK2 646643 broad.mit.edu 37 19 56041235 56041235 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:56041235C>A ENST00000413299.1 - 4 949 c.912G>T c.(910-912)ctG>ctT p.L304L SBK2_ENST00000344158.3_Silent_p.L304L NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 304 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 GCAGCCCCCGCAGAAGCGCGT 0.741000 4 9 0.00909568 0.00932367 0.150653 1 0 KIFC1 3833 broad.mit.edu 37 6 33374368 33374368 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:33374368G>T ENST00000428849.2 + 9 2277 c.e9-1 NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CAATCATCTAGGAGTCCCACG 0.547000 55 63 3.86002e-21 6.16535e-21 0.870114 1 0 DCSTAMP 81501 broad.mit.edu 37 8 105367322 105367322 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:105367322G>T ENST00000297581.2 + 3 1296 c.1247G>T c.(1246-1248)cGc>cTc p.R416L DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 416 osteoclast differentiation cell surface|integral to membrane|plasma membrane GAGAGGAAGCGCATCCAATAT 0.443000 16 171 3.62473e-10 4.55528e-10 0.608945 1 0 UGT2A1 10941 broad.mit.edu 37 4 70455213 70455213 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:70455213G>T ENST00000503640.1 - 6 1516 c.1461C>A c.(1459-1461)caC>caA p.H487Q UGT2A1_ENST00000512704.1_Missense_Mutation_p.H443Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.H496Q|UGT2A1_ENST00000514019.1_Missense_Mutation_p.H653Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.H487Q NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 487 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CATCCAAAGAGTGGTACTGGA 0.468000 48 93 1.27334e-21 2.05895e-21 0.870114 1 0 SPATA20 64847 broad.mit.edu 37 17 48628429 48628429 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:48628429G>C ENST00000006658.6 + 12 1574 c.1454G>C c.(1453-1455)cGc>cCc p.R485P SPATA20_ENST00000393244.3_Missense_Mutation_p.R425P|SPATA20_ENST00000356488.4_Missense_Mutation_p.R469P|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 469 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) ACTGCTGCCCGCTTTGGCTTG 0.637000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 46 0 0 0.278610 0 0 GLDC 2731 broad.mit.edu 37 9 6604637 6604637 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:6604637G>A ENST00000321612.6 - 7 1159 c.1009C>T c.(1009-1011)Cga>Tga p.R337* NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 337 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AAGCTTTCTCGGACAGCAAAA 0.502000 5 162 0 0 0.248553 0 0 NAPB 63908 broad.mit.edu 37 20 23360514 23360514 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:23360514T>C ENST00000377026.4 - 9 810 c.725A>G c.(724-726)aAa>aGa p.K242R NAPB_ENST00000432543.2_Missense_Mutation_p.K203R|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Missense_Mutation_p.K148R NM_022080.2 NP_071363.1 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment protein, beta 242 intracellular protein transport|vesicle-mediated transport membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) TTTCAATAATTTACATTCTCT 0.323000 6 36 0 0 0.278610 0 0 CDH8 1006 broad.mit.edu 37 16 61687791 61687791 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:61687791C>A ENST00000577390.1 - 12 3075 c.2121G>T c.(2119-2121)atG>atT p.M707I CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Missense_Mutation_p.M707I NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 707 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTTGCCTTGGCATAAACTGCA 0.428000 37 45 1.07121e-22 1.7626e-22 0.827153 1 0 AMOTL1 154810 broad.mit.edu 37 11 94602640 94602640 + Splice_Site SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:94602640T>A ENST00000433060.2 + 12 2905 c.e12+2 AMOTL1_ENST00000317837.9_Splice_Site|AMOTL1_ENST00000317829.8_Splice_Site NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) AGAAACTGGGTATGTGGGCTA 0.607000 3 4 0 0 0.184627 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30951811 30951811 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:30951811C>T ENST00000402321.1 - 3 718 c.401G>A c.(400-402)tGc>tAc p.C134Y GAL3ST1_ENST00000338911.5_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.C134Y|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.C134Y Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 134 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 GATGTTGAAGCAGGCCCCGGG 0.637000 16 97 0 0 0.575678 0 0 TRIM42 287015 broad.mit.edu 37 3 140397297 140397297 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:140397297T>A ENST00000286349.3 + 1 417 c.226T>A c.(226-228)Tgt>Agt p.C76S NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 76 Cys-rich. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TGATCCCAACTGTAAGTGCTG 0.547000 25 71 0 0 0.693898 0 0 AP1B1 162 broad.mit.edu 37 22 29726403 29726403 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:29726403C>T ENST00000357586.2 - 21 2916 c.2730G>A c.(2728-2730)gcG>gcA p.A910A AP1B1_ENST00000317368.7_Silent_p.A883A|AP1B1_ENST00000432560.2_Silent_p.A903A|AP1B1_ENST00000415447.1_Silent_p.A903A|AP1B1_ENST00000402502.1_Silent_p.A903A|AP1B1_ENST00000356015.2_Silent_p.A903A|AP1B1_ENST00000405198.1_Silent_p.A910A NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 910 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TCCGCAGCTCCGCCAGCACCC 0.662000 4 59 0 0 0.217242 0 0 MDGA1 266727 broad.mit.edu 37 6 37618147 37618147 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:37618147G>T ENST00000434837.2 - 8 2525 c.1347C>A c.(1345-1347)gcC>gcA p.A449A MDGA1_ENST00000297153.7_Silent_p.A449A|MDGA1_ENST00000505425.1_Silent_p.A449A NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 449 Ig-like 5. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CGGTCACCACGGCCCTACCCT 0.687000 7 20 5.68852e-11 7.35611e-11 0.307466 1 0 SLC2A4 6517 broad.mit.edu 37 17 7189847 7189847 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:7189847G>C ENST00000317370.8 + 11 1697 c.1429G>C c.(1429-1431)Gac>Cac p.D477H NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 477 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 CCGGACGTTTGACCAGATCTC 0.527000 135 140 0 0 0.870114 0 0 SLC9A4 389015 broad.mit.edu 37 2 103128707 103128707 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:103128707T>C ENST00000295269.4 + 7 1991 c.1534T>C c.(1534-1536)Tgg>Cgg p.W512R NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 512 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GTGTGGGCACTGGAGTCACTA 0.458000 30 113 0 0 0.804634 0 0 ZNF347 84671 broad.mit.edu 37 19 53645462 53645462 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:53645462A>T ENST00000452676.2 - 5 1048 c.622T>A c.(622-624)Tgt>Agt p.C208S ZNF347_ENST00000334197.7_Missense_Mutation_p.C207S|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C208S NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) ACCTGATTACATTCATAAATT 0.343000 11 38 0 0 0.387290 0 0 DDX50 79009 broad.mit.edu 37 10 70700858 70700858 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:70700858G>C ENST00000373585.3 + 13 1905 c.1798G>C c.(1798-1800)Gat>Cat p.D600H DDX50_ENST00000466265.1_3'UTR NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 600 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 GGAAATACAGGATGTCAGCTG 0.398000 10 36 0 0 0.361761 0 0 CD1A 909 broad.mit.edu 37 1 158226844 158226844 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:158226844C>A ENST00000289429.5 + 4 1406 c.873C>A c.(871-873)gtC>gtA p.V291V NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 291 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex p.V291V(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) AGGACATCGTCCTCTACTGGG 0.572000 26 44 1.08312e-15 1.57144e-15 0.740014 1 0 MAN2A2 4122 broad.mit.edu 37 15 91452642 91452642 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:91452642C>T ENST00000360468.3 + 8 1300 c.1282C>T c.(1282-1284)Cga>Tga p.R428* MAN2A2_ENST00000559717.1_Nonsense_Mutation_p.R428*|MAN2A2_ENST00000431652.2_Silent_p.S3S NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 428 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding p.R428*(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) AGATGACTTCCGATATGACAA 0.552000 27 27 0 0 0.769981 0 0 ZEB1 6935 broad.mit.edu 37 10 31750087 31750087 + Silent SNP C C T rs142039874 byFrequency TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:31750087C>T ENST00000446923.2 + 2 520 c.129C>T c.(127-129)gaC>gaT p.D43D ZEB1_ENST00000320985.10_Silent_p.D60D|ZEB1_ENST00000560721.2_Silent_p.D60D|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Silent_p.D60D|ZEB1_ENST00000542815.3_Intron NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 60 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CAGAGGATGACCTGCCAACAG 0.428000 26 50 0 0 0.729181 0 0 CLCNKA 1187 broad.mit.edu 37 1 16351313 16351313 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:16351313C>T ENST00000375692.1 + 5 413 c.285C>T c.(283-285)tcC>tcT p.S95S CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000331433.4_Silent_p.S95S|CLCNKA_ENST00000420078.1_Silent_p.S95S P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 95 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GGTATCTTTCCTGGACTGTGT 0.627000 13 61 0 0 0.520397 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347788 140347788 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140347788G>C ENST00000289269.5 + 1 1969 c.1437G>C c.(1435-1437)caG>caC p.Q479H PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 479 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTACATACAGGAGAACAATT 0.498000 134 80 0 0 0.870114 0 0 DMXL1 1657 broad.mit.edu 37 5 118580248 118580248 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:118580248G>A ENST00000311085.8 + 42 8916 c.8836G>A c.(8836-8838)Gga>Aga p.G2946R DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.G2967R NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2946 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CTTTGTTACAGGATCTGCCGA 0.398000 18 23 0 0 0.575678 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541800 133541800 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:133541800C>G ENST00000409261.1 - 14 2957 c.2584G>C c.(2584-2586)Gat>Cat p.D862H NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D862H|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 862 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ATGTGTGGATCTGATCGTAAT 0.542000 21 61 0 0 0.592651 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754785 94754785 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:94754785G>T ENST00000554723.1 - 3 1368 c.950C>A c.(949-951)tCc>tAc p.S317Y SERPINA10_ENST00000261994.4_Missense_Mutation_p.S277Y|SERPINA10_ENST00000393096.1_Missense_Mutation_p.S277Y|SERPINA10_ENST00000554173.1_Missense_Mutation_p.S277Y Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 277 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GTCAAAGGTGGAGGCAAACTT 0.502000 20 80 4.35082e-09 5.29161e-09 0.592651 1 0 MORC1 27136 broad.mit.edu 37 3 108703575 108703575 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:108703575G>A ENST00000232603.5 - 23 2394 c.2312C>T c.(2311-2313)cCt>cTt p.P771L MORC1_ENST00000483760.1_Missense_Mutation_p.P750L NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 771 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTCCAGCTAGGTAATGAAGA 0.348000 8 46 0 0 0.361761 0 0 EHD3 30845 broad.mit.edu 37 2 31483541 31483541 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:31483541A>G ENST00000322054.5 + 4 953 c.668A>G c.(667-669)cAg>cGg p.Q223R EHD3_ENST00000541626.1_Intron NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 223 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) AAAGCTGACCAGATCGAGACG 0.557000 9 45 0 0 0.335167 0 0 TIE1 7075 broad.mit.edu 37 1 43773165 43773165 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:43773165C>A ENST00000372476.3 + 6 914 c.835C>A c.(835-837)Cgg>Agg p.R279R TIE1_ENST00000538015.1_Silent_p.R279R|TIE1_ENST00000441333.2_Silent_p.R279R|TIE1_ENST00000433781.2_5'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 279 EGF-like 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ATCAGGCTGCCGGGGCCTCAC 0.602000 21 31 2.89027e-11 3.76733e-11 0.624587 1 0 ABCG5 64240 broad.mit.edu 37 2 44051162 44051162 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:44051162A>G ENST00000543989.1 - 5 1734 c.29T>C c.(28-30)cTg>cCg p.L10P ABCG5_ENST00000405322.1_Missense_Mutation_p.L234P|ABCG5_ENST00000260645.1_Missense_Mutation_p.L405P Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 405 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCGGACCCGCAGAACGAAGAA 0.512000 15 68 0 0 0.479597 0 0 LCP1 3936 broad.mit.edu 37 13 46726969 46726969 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:46726969A>G ENST00000398576.2 - 10 1073 c.685T>C c.(685-687)Tgg>Cgg p.W229R LCP1_ENST00000323076.2_Missense_Mutation_p.W229R P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 229 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) ATGACTTGCCACAGAAGTCCC 0.488000 T BCL6 NHL 4 42 0 0 0.184627 0 0 NID2 22795 broad.mit.edu 37 14 52494052 52494052 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:52494052T>A ENST00000216286.5 - 12 2540 c.2541A>T c.(2539-2541)ccA>ccT p.P847P NID2_ENST00000541773.1_Intron NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 847 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GGTTGGCAGGTGGGGTGATCA 0.567000 7 17 0 0 0.387290 0 0 PSKH2 85481 broad.mit.edu 37 8 87060782 87060782 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:87060782G>T ENST00000276616.2 - 3 1141 c.1067C>A c.(1066-1068)tCt>tAt p.S356Y NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 356 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) TGACTTAGAAGACTGTGCAGA 0.488000 87 52 5.00475e-40 9.41929e-40 0.870114 1 0 GPRIN3 285513 broad.mit.edu 37 4 90169636 90169636 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:90169636A>G ENST00000333209.3 - 2 2144 c.1626T>C c.(1624-1626)tcT>tcC p.S542S NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 542 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) CTACCTGAGGAGATGCAGGCT 0.453000 8 25 0 0 0.278610 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204379 125204379 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:125204379C>A ENST00000431078.1 + 6 1147 c.783C>A c.(781-783)ggC>ggA p.G261G NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 261 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCACCCTGGGCAGCCTCCTGG 0.602000 10 59 2.17888e-05 2.40289e-05 0.335167 1 0 VRTN 55237 broad.mit.edu 37 14 74823804 74823804 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:74823804C>A ENST00000256362.4 + 2 559 c.318C>A c.(316-318)gcC>gcA p.A106A NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 106 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 AGCTGCGGGCCCGCACCGTGG 0.642000 12 21 0.00010058 0.000109022 0.411799 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156931505 156931505 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:156931505C>T ENST00000368194.3 - 14 2242 c.1203G>A c.(1201-1203)ggG>ggA p.G401G ARHGEF11_ENST00000361409.2_Silent_p.G361G NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 361 RGSL. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGATGTCTTTCCCCAAGCTTC 0.433000 28 51 0 0 0.847076 0 0 RGPD4 285190 broad.mit.edu 37 2 108499191 108499191 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:108499191G>T ENST00000408999.3 + 22 5205 c.5128G>T c.(5128-5130)Gtg>Ttg p.V1710L RGPD4_ENST00000354986.4_Missense_Mutation_p.V1710L NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1710 GRIP. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TGCAGCTAACGTGGAACACTT 0.408000 17 52 0.000132079 0.000143007 0.575678 1 0 HSPA1L 3305 broad.mit.edu 37 6 31779206 31779206 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:31779206C>A ENST00000375654.4 - 2 733 c.544G>T c.(544-546)Gcc>Tcc p.A182S HSPA1L_ENST00000417199.3_Missense_Mutation_p.A182S NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 182 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TAGGCAATGGCAGCAGCCGTG 0.458000 64 56 2.20561e-19 3.41453e-19 0.870114 1 0 DRC1 92749 broad.mit.edu 37 2 26679340 26679340 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:26679340A>T ENST00000288710.2 + 17 2252 c.2178A>T c.(2176-2178)gaA>gaT p.E726D NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) TCAACTCTGAACTGCAAGTTC 0.557000 17 79 0 0 0.575678 0 0 EVI5 7813 broad.mit.edu 37 1 93091372 93091372 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:93091372C>T ENST00000370331.1 - 13 1608 c.1599G>A c.(1597-1599)aaG>aaA p.K533K EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Silent_p.K533K|EVI5_ENST00000543509.1_Silent_p.K544K NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 533 Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CCTCTAAATCCTTGACTTGCT 0.348000 23 98 0 0 0.706142 0 0 MAU2 23383 broad.mit.edu 37 19 19452187 19452187 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:19452187C>T ENST00000392313.5 + 7 752 c.706C>T c.(706-708)Cag>Tag p.Q236* MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Nonsense_Mutation_p.Q236* NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 236 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 CCTGGTGCTCCAGGTCACCCA 0.637000 15 36 0 0 0.575678 0 0 CACNA1B 774 broad.mit.edu 37 9 141014739 141014739 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:141014739C>G ENST00000277549.5 + 45 6304 c.3735C>G c.(3733-3735)caC>caG p.H1245Q CACNA1B_ENST00000277551.2_Missense_Mutation_p.H2051Q|CACNA1B_ENST00000371355.4_Missense_Mutation_p.H2052Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.H2050Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.H2049Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.H2051Q Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2051 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CGTCGCACCACCACCACCACC 0.701000 2 3 0 0 0.115264 0 0 DRD2 1813 broad.mit.edu 37 11 113288785 113288785 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:113288785G>A ENST00000362072.3 - 3 703 c.359C>T c.(358-360)gCg>gTg p.A120V DRD2_ENST00000346454.3_Missense_Mutation_p.A120V|DRD2_ENST00000538967.1_Missense_Mutation_p.A120V|DRD2_ENST00000542968.1_Missense_Mutation_p.A120V|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000544518.1_Missense_Mutation_p.A119V|DRD2_ENST00000355319.2_Missense_Mutation_p.A120V NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 120 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CAGGATGCTCGCCGTGCACAT 0.542000 35 70 0 0 0.864702 0 0 XPO6 23214 broad.mit.edu 37 16 28112947 28112947 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:28112947G>A ENST00000304658.5 - 23 3608 c.3108C>T c.(3106-3108)caC>caT p.H1036H XPO6_ENST00000565698.1_Silent_p.H1022H NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 1036 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CATGGGACTTGTGGACCAGGA 0.567000 32 60 0 0 0.827153 0 0 TRBV3-1 28619 broad.mit.edu 37 7 142008813 142008813 + RNA SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142008813C>T ENST00000390387.3 + 0 333 CTTAAATCTTCACATCAATTC 0.433000 39 49 0 0 0.859065 0 0 MUC16 94025 broad.mit.edu 37 19 9086338 9086338 + Missense_Mutation SNP T T A rs35717277 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9086338T>A ENST00000397910.4 - 1 5680 c.5477A>T c.(5476-5478)gAg>gTg p.E1826V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1826 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTGTCACCTCCATTGATGG 0.483000 23 69 0 0 0.706142 0 0 UBA6 55236 broad.mit.edu 37 4 68547298 68547298 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:68547298C>T ENST00000322244.4 - 4 300 c.241G>A c.(241-243)Gtt>Att p.V81I UBA6_ENST00000420827.2_Missense_Mutation_p.V81I NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 81 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 CCTGCAAGAACAAGATTCTTT 0.333000 13 53 0 0 0.500413 0 0 TCHH 7062 broad.mit.edu 37 1 152080392 152080392 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:152080392C>A ENST00000368804.1 - 2 5300 c.5301G>T c.(5299-5301)caG>caT p.Q1767H NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1767 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCGCGCTCCTGGCGGCGCA 0.592000 22 88 5.35356e-11 6.93208e-11 0.639603 1 0 ANAPC16 119504 broad.mit.edu 37 10 73990158 73990158 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:73990158T>C ENST00000299381.4 + 3 295 c.177T>C c.(175-177)ttT>ttC p.F59F ANAPC16_ENST00000470481.2_3'UTR NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3 NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1 Q96DE5 APC16_HUMAN anaphase promoting complex subunit 16 59 cell division|mitosis|protein ubiquitination anaphase-promoting complex|cytoplasm large_intestine(1)|ovary(1) 2 AATCTGTTTTTAGCTATCAAG 0.408000 37 33 0 0 0.870114 0 0 GPR112 139378 broad.mit.edu 37 X 135427292 135427292 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:135427292C>A ENST00000394143.1 + 6 1718 c.1427C>A c.(1426-1428)aCa>aAa p.T476K GPR112_ENST00000412101.1_Missense_Mutation_p.T271K|GPR112_ENST00000394141.1_Missense_Mutation_p.T271K|GPR112_ENST00000287534.4_Missense_Mutation_p.T413K|GPR112_ENST00000370652.1_Missense_Mutation_p.T476K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 476 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTCATCTCCACAGCTGCTCCA 0.448000 29 25 6.70999e-13 9.03409e-13 0.796494 1 0 CPNE7 27132 broad.mit.edu 37 16 89662950 89662950 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:89662950A>T ENST00000268720.5 + 17 1953 c.1823A>T c.(1822-1824)gAg>gTg p.E608V CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Missense_Mutation_p.E533V NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 608 lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CAGGTGGTGGAGTACTACAGC 0.662000 19 81 0 0 0.592651 0 0 CAMK2B 816 broad.mit.edu 37 7 44282250 44282250 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:44282250A>G ENST00000395749.2 - 9 681 c.605T>C c.(604-606)gTg>gCg p.V202A CAMK2B_ENST00000258682.6_Missense_Mutation_p.V202A|CAMK2B_ENST00000440254.2_Missense_Mutation_p.V202A|CAMK2B_ENST00000457475.1_Missense_Mutation_p.V202A|CAMK2B_ENST00000502837.2_Missense_Mutation_p.V73A|CAMK2B_ENST00000346990.4_Missense_Mutation_p.V202A|CAMK2B_ENST00000395747.2_Missense_Mutation_p.V202A|CAMK2B_ENST00000358707.3_Missense_Mutation_p.V202A|CAMK2B_ENST00000353625.4_Missense_Mutation_p.V202A|CAMK2B_ENST00000350811.3_Missense_Mutation_p.V202A|CAMK2B_ENST00000347193.4_Missense_Mutation_p.V202A NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 202 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 GTACAGGATCACCCCTGCGGA 0.627000 6 14 0 0 0.248553 0 0 MMP8 4317 broad.mit.edu 37 11 102587108 102587108 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:102587108G>T ENST00000236826.3 - 6 925 c.827C>A c.(826-828)cCc>cAc p.P276H NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 276 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding p.P276H(1) autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ACAGGGTTTGGGTGTGCTTGG 0.378000 54 113 2.09306e-48 4.05596e-48 0.870114 1 0 STXBP5L 9515 broad.mit.edu 37 3 121134767 121134767 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:121134767A>G ENST00000273666.6 + 26 3521 c.3250A>G c.(3250-3252)Aag>Gag p.K1084E STXBP5L_ENST00000471454.1_Missense_Mutation_p.K1060E NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1084 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGGCTTTCTCAAGGGACTGTT 0.393000 29 75 0 0 0.804634 0 0 AP5Z1 9907 broad.mit.edu 37 7 4824652 4824652 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:4824652C>T ENST00000348624.4 + 7 998 c.904C>T c.(904-906)Cag>Tag p.Q302* AP5Z1_ENST00000401897.1_Nonsense_Mutation_p.Q302* NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 302 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding CGAGTACTGCCAGCGCCTCAT 0.692000 24 44 0 0 0.654019 0 0 FRMD4B 23150 broad.mit.edu 37 3 69271058 69271058 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:69271058C>A ENST00000542259.1 - 10 971 c.520G>T c.(520-522)Gag>Tag p.E174* FRMD4B_ENST00000398540.3_Nonsense_Mutation_p.E228* Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 228 FERM. cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) AAATAATGCTCAATTACCCTG 0.373000 4 5 0.00116845 0.00122524 0.217242 1 0 CPED1 79974 broad.mit.edu 37 7 120782111 120782111 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:120782111G>C ENST00000310396.5 + 16 2438 c.1971G>C c.(1969-1971)ctG>ctC p.L657L CPED1_ENST00000450913.2_Silent_p.L657L|CPED1_ENST00000423795.1_Silent_p.L437L NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GTGAGACTCTGATCACGTACA 0.468000 128 132 0 0 0.870114 0 0 OTUD7B 56957 broad.mit.edu 37 1 149916181 149916181 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:149916181C>A ENST00000369135.3 - 12 2401 c.2107G>T c.(2107-2109)Ggg>Tgg p.G703W NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 703 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) ACTCCGCCCCCAGACGGCCGA 0.642000 34 62 1.07637e-12 1.4472e-12 0.804634 1 0 NUMB 8650 broad.mit.edu 37 14 73743885 73743885 + Missense_Mutation SNP C C A rs144913219 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:73743885C>A ENST00000556772.1 - 7 3212 c.925G>T c.(925-927)Gct>Tct p.A309S NUMB_ENST00000355058.3_Missense_Mutation_p.A453S|NUMB_ENST00000560335.1_Missense_Mutation_p.A307S|NUMB_ENST00000559312.1_Missense_Mutation_p.A258S|NUMB_ENST00000557597.1_Missense_Mutation_p.A442S|NUMB_ENST00000555738.2_Missense_Mutation_p.A296S|NUMB_ENST00000554546.1_Missense_Mutation_p.A394S|NUMB_ENST00000555394.1_Missense_Mutation_p.A405S|NUMB_ENST00000555238.1_Missense_Mutation_p.A453S|NUMB_ENST00000554521.2_Missense_Mutation_p.A247S|NUMB_ENST00000544991.3_Missense_Mutation_p.A258S|NUMB_ENST00000535282.1_Missense_Mutation_p.A442S|NUMB_ENST00000356296.4_Missense_Mutation_p.A405S|NUMB_ENST00000454166.4_Missense_Mutation_p.A307S|NUMB_ENST00000359560.3_Missense_Mutation_p.A442S P49757 NUMB_HUMAN numb homolog (Drosophila) 453 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) GGCTGCTGAGCCCGGACGCTC 0.607000 15 34 2.31682e-05 2.55215e-05 0.479597 1 0 ALDH16A1 126133 broad.mit.edu 37 19 49967495 49967495 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:49967495G>T ENST00000293350.4 + 10 1469 c.1306G>T c.(1306-1308)Ggg>Tgg p.G436W CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.G385W|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.G273W|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.G271W NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 436 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CGAGAGGCTGGGGCAGGCGCT 0.677000 10 17 1.33987e-11 1.76521e-11 0.361761 1 0 STIM2 57620 broad.mit.edu 37 4 27010420 27010420 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:27010420G>T ENST00000382009.3 + 11 1837 c.1570G>T c.(1570-1572)Gaa>Taa p.E524* STIM2_ENST00000237364.5_Nonsense_Mutation_p.E516*|STIM2_ENST00000412829.2_Nonsense_Mutation_p.E516*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.E429*|STIM2_ENST00000467011.1_Nonsense_Mutation_p.E429*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E437* NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 429 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) TTGTTTACGAGAACGACTTTT 0.413000 14 37 1.3612e-06 1.54901e-06 0.479597 1 0 KMT2A 4297 broad.mit.edu 37 11 118366474 118366474 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:118366474G>T ENST00000534358.1 + 19 5446 c.5423G>T c.(5422-5424)tGg>tTg p.W1808L KMT2A_ENST00000354520.4_Missense_Mutation_p.W1767L|KMT2A_ENST00000389506.5_Missense_Mutation_p.W1805L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TATGCTCAGTGGCAGGAGCGA 0.453000 55 102 3.8128e-34 6.96884e-34 0.870114 1 0 GPR179 440435 broad.mit.edu 37 17 36485794 36485794 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:36485794C>A ENST00000342292.4 - 11 3678 c.3658G>T c.(3658-3660)Gtc>Ttc p.V1220F NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1220 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TGCCACCCGACAGGGGTTTCT 0.557000 37 130 2.40579e-17 3.61053e-17 0.819951 1 0 NEU2 4759 broad.mit.edu 37 2 233899040 233899040 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:233899040C>A ENST00000233840.3 + 2 416 c.416C>A c.(415-417)cCc>cAc p.P139H NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 139 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) TGGAGCTCCCCCAGAGACCTC 0.657000 21 27 6.44725e-10 8.05086e-10 0.624587 1 0 TTN 7273 broad.mit.edu 37 2 179596306 179596306 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179596306G>A ENST00000589042.1 - 59 17411 c.17187C>T c.(17185-17187)ccC>ccT p.P5729P TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.P4485P|TTN_ENST00000591111.1_Silent_p.P5412P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5412 Ig-like 38. 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) TGAAGGATGGGGGTTCTAACA 0.463000 6 14 0 0 0.217242 0 0 TTL 150465 broad.mit.edu 37 2 113258918 113258918 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:113258918G>T ENST00000233336.5 + 4 796 c.605_splice c.e4+1 p.R202_splice NM_153712.4 NP_714923.1 Q8NG68 TTL_HUMAN tubulin tyrosine ligase 202 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity breast(1)|large_intestine(2)|ovary(1) 4 Ovarian(717;0.024) BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644) TTTGACATCCGGTAATGCATT 0.458000 T ETV6 ALL 5 14 0.00116845 0.00122524 0.217242 1 0 ABCB5 340273 broad.mit.edu 37 7 20685746 20685746 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:20685746C>T ENST00000404938.2 + 9 1618 c.966C>T c.(964-966)atC>atT p.I322I NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 506 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GATATACCATCGGGACTGTTC 0.398000 7 49 0 0 0.307466 0 0 SP100 6672 broad.mit.edu 37 2 231406733 231406733 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:231406733C>A ENST00000340126.4 + 28 2561 c.2530C>A c.(2530-2532)Cac>Aac p.H844N AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA NM_001080391.1 NP_001073860.1 P23497 SP100_HUMAN SP100 nuclear antigen 0 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTTTCATAACCACAAGGAATT 0.423000 20 78 3.62473e-10 4.55528e-10 0.608945 1 0 HDAC9 9734 broad.mit.edu 37 7 18669105 18669105 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:18669105G>T ENST00000406451.3 + 7 937 c.e7+1 HDAC9_ENST00000441542.2_Splice_Site|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000432645.2_Splice_Site|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000456174.2_Splice_Site|HDAC9_ENST00000405010.3_Splice_Site|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000428307.2_Intron NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GAGGTGACAGGTAATTGAGGA 0.393000 20 51 6.36457e-07 7.31051e-07 0.667858 1 0 P4HA3 283208 broad.mit.edu 37 11 73988087 73988087 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:73988087C>A ENST00000331597.4 - 9 1323 c.1278G>T c.(1276-1278)ctG>ctT p.L426L P4HA3_ENST00000427714.2_Silent_p.L426L NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 426 Fe2OG dioxygenase. endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TCACCACCTGCAGATACTCTG 0.557000 25 50 7.07758e-08 8.33931e-08 0.681144 1 0 IGLV1-51 28820 broad.mit.edu 37 22 22677187 22677187 + RNA SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:22677187A>T ENST00000390290.2 + 0 251 LL22NC03-80A10.6_ENST00000426066.1_RNA TATGACAATAATAAGCGACCC 0.542000 6 169 0 0 0.278610 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586644 15586644 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:15586644C>A ENST00000292609.4 - 2 966 c.837G>T c.(835-837)ggG>ggT p.G279G PGLYRP2_ENST00000340880.4_Silent_p.G279G Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 279 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CAAGGATGACCCCATCCAGGG 0.622000 14 35 1.01871e-10 1.30787e-10 0.575678 1 0 SNHG14 104472715 broad.mit.edu 37 15 25474179 25474179 + RNA SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:25474179G>C ENST00000453082.2 + 0 1370 SNORD115-32_ENST00000364079.1_RNA NR_003343.1 ATGTTCAATAGGATTACGCTG 0.493000 81 169 0 0 0.870114 0 0 NPC1 4864 broad.mit.edu 37 18 21113482 21113482 + Splice_Site SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:21113482C>T ENST00000269228.5 - 24 4146 c.e24-1 NPC1_ENST00000412552.2_Splice_Site NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) CACTGAACACCTAAAAGAAGA 0.373000 13 40 0 0 0.500413 0 0 C22orf42 150297 broad.mit.edu 37 22 32554986 32554986 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:32554986G>T ENST00000382097.3 - 1 289 c.217C>A c.(217-219)Ctg>Atg p.L73M NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 73 L -> P (in dbSNP:rs5998267). NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 GACATCTTCAGCATCTTCGGC 0.552000 87 121 2.13719e-29 3.78296e-29 0.870114 1 0 OSCAR 126014 broad.mit.edu 37 19 54600389 54600389 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:54600389G>T ENST00000284648.6 - 4 330 c.133C>A c.(133-135)Cct>Act p.P45T OSCAR_ENST00000358375.4_Missense_Mutation_p.P45T|OSCAR_ENST00000359649.4_Missense_Mutation_p.P49T|OSCAR_ENST00000391761.1_Missense_Mutation_p.P34T|OSCAR_ENST00000351806.4_Missense_Mutation_p.P34T|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Missense_Mutation_p.P49T Q8IYS5 OSCAR_HUMAN osteoclast associated, immunoglobulin-like receptor 45 Ig-like 1. extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) TTGACCCCAGGGGTCACAACT 0.607000 34 55 2.24893e-16 3.3168e-16 0.847076 1 0 FAM47A 158724 broad.mit.edu 37 X 34148840 34148840 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:34148840G>T ENST00000346193.3 - 1 1607 c.1556C>A c.(1555-1557)tCg>tAg p.S519* NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 519 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGGAGGCTCCGAGCGGAGACT 0.662000 10 14 1.58986e-06 1.80608e-06 0.361761 1 0 RALGAPA2 57186 broad.mit.edu 37 20 20493244 20493244 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:20493244C>T ENST00000202677.6 - 32 4911 c.4769G>A c.(4768-4770)gGg>gAg p.G1590E NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1590 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGAGGGCTGCCCTTGGCTGGT 0.463000 12 18 0 0 0.435327 0 0 SCN4A 6329 broad.mit.edu 37 17 62034746 62034746 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:62034746C>A ENST00000435607.1 - 13 2228 c.2152G>T c.(2152-2154)Ggc>Tgc p.G718C SCN4A_ENST00000578147.1_Missense_Mutation_p.G718C NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 718 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) AGCTGCATGCCCACCACGGCG 0.542000 31 31 1.08052e-11 1.42449e-11 0.796494 1 0 MAP10 54627 broad.mit.edu 37 1 232943627 232943627 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:232943627A>T ENST00000418460.1 + 1 2985 c.2858A>T c.(2857-2859)cAg>cTg p.Q953L NM_019090.2 NP_061963.2 microtubule-associated protein 10 AAAGAAAACCAGATAGATCAA 0.328000 6 33 0 0 0.248553 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69093706 69093706 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:69093706C>A ENST00000332644.5 - 10 1335 c.1174G>T c.(1174-1176)Ggt>Tgt p.G392C NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 392 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 TTCTTTTTACCACATCCATCA 0.393000 18 35 0.000375601 0.000400057 0.639603 1 0 NOD2 64127 broad.mit.edu 37 16 50745598 50745598 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:50745598G>T ENST00000300589.2 + 4 1881 c.1776G>T c.(1774-1776)gtG>gtT p.V592V NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 592 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) AAGGTGTCGTGCCAGGGAGTA 0.577000 11 19 1.08611e-07 1.27134e-07 0.387290 1 0 COL4A5 1287 broad.mit.edu 37 X 107844633 107844633 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:107844633G>T ENST00000328300.6 + 26 2203 c.1959G>T c.(1957-1959)ggG>ggT p.G653G COL4A5_ENST00000361603.2_Silent_p.G653G NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 653 Triple-helical region. G -> R (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GTCCTAAAGGGGATCCAGGTC 0.403000 Alport syndrome with Diffuse Leiomyomatosis 18 14 6.94344e-10 8.6375e-10 0.539581 1 0 HOXD9 3235 broad.mit.edu 37 2 176988902 176988902 + Nonstop_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:176988902G>T ENST00000249499.6 + 2 1467 c.1058G>T c.(1057-1059)tGa>tTa p.*353L HOXD-AS2_ENST00000440016.2_RNA NM_014213.3 NP_055028.3 P28356 HXD9_HUMAN homeobox D9 0 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) AAAGGAGACTGACCCGGCGCG 0.493000 33 68 1.39193e-11 1.83256e-11 0.870114 1 0 TCL6 27004 broad.mit.edu 37 14 96135818 96135818 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:96135818G>T ENST00000467865.1 + 0 1821 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) cgcctacctcggcctcccaaa 0.512000 T TRA@ T-ALL 8 11 0.0381472 0.0386792 0.278610 1 0 ANK2 287 broad.mit.edu 37 4 114276441 114276441 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:114276441C>A ENST00000357077.4 + 38 6720 c.6667C>A c.(6667-6669)Cct>Act p.P2223T ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2190T|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2190 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGAGGGGACCCCTCAGATTAG 0.507000 28 59 1.61788e-16 2.39329e-16 0.760397 1 0 RYR2 6262 broad.mit.edu 37 1 237664160 237664160 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:237664160G>T ENST00000366574.2 + 21 2670 c.2353G>T c.(2353-2355)Gat>Tat p.D785Y RYR2_ENST00000360064.6_Missense_Mutation_p.D783Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D769Y NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 785 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTCAACATCGATGGCCTCTT 0.403000 23 55 4.26978e-12 5.64796e-12 0.654019 1 0 GPRC6A 222545 broad.mit.edu 37 6 117121861 117121861 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:117121861G>C ENST00000310357.3 - 4 1455 c.1434C>G c.(1432-1434)ctC>ctG p.L478L GPRC6A_ENST00000530250.1_Silent_p.L303L|GPRC6A_ENST00000368549.3_Intron NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 478 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TCTCCTTCCAGAGCACAACAT 0.383000 50 53 0 0 0.870114 0 0 SHE 126669 broad.mit.edu 37 1 154471587 154471587 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:154471587C>A ENST00000304760.2 - 2 805 c.e2+1 NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TGCTTACAAACCTGTTATCAT 0.438000 19 60 3.7963e-18 5.77238e-18 0.654019 1 0 BMP7 655 broad.mit.edu 37 20 55758946 55758946 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:55758946G>A ENST00000395863.3 - 4 1295 c.790C>T c.(790-792)Ctg>Ttg p.L264L BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.L264L|BMP7_ENST00000395864.3_Intron NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 264 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CGCCCAATCAGGCCCGCCAAC 0.627000 3 25 0 0 0.115264 0 0 APOB 338 broad.mit.edu 37 2 21235158 21235158 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:21235158G>A ENST00000233242.1 - 26 4709 c.4582C>T c.(4582-4584)Caa>Taa p.Q1528* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1528 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGGTGCCTTGGAGGTAGGAG 0.488000 21 41 0 0 0.667858 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554489 140554489 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140554489G>T ENST00000231137.3 + 1 2247 c.2073G>T c.(2071-2073)gcG>gcT p.A691A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 691 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) TGGTGGTGGCGTTGGCCTCGG 0.706000 110 594 9.05284e-58 1.78421e-57 0.870114 1 0 SH3D19 152503 broad.mit.edu 37 4 152086802 152086802 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:152086802T>A ENST00000409598.4 - 8 1908 c.741A>T c.(739-741)gcA>gcT p.A247A SH3D19_ENST00000304527.4_Silent_p.A247A|SH3D19_ENST00000514152.1_Silent_p.A247A|SH3D19_ENST00000455740.1_Silent_p.A247A|SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000409252.2_Silent_p.A247A|SH3D19_ENST00000427414.2_Intron Q5HYK7 SH319_HUMAN SH3 domain containing 19 247 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) CTGGTTGAACTGCTCGTTCTT 0.388000 16 85 0 0 0.575678 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18657655 18657655 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:18657655G>C ENST00000380548.4 + 8 1192 c.853G>C c.(853-855)Gct>Cct p.A285P ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A285P|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A285P|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A285P NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 285 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CTCGGGCTCCGCTGACAGTAC 0.498000 54 26 0 0 0.870114 0 0 OR4K5 79317 broad.mit.edu 37 14 20389262 20389262 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:20389262T>A ENST00000315915.4 + 1 522 c.497T>A c.(496-498)cTg>cAg p.L166Q NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACTGTGAACCTGCCTTTTTGT 0.438000 135 564 0 0 0.870114 0 0 R3HDM1 23518 broad.mit.edu 37 2 136481666 136481666 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:136481666G>T ENST00000264160.4 + 26 3474 c.3104G>T c.(3103-3105)gGg>gTg p.G1035V R3HDM1_ENST00000329971.3_Missense_Mutation_p.G906V|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G980V|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G1036V|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G907V NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 1035 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TGTGGCAGTGGGGACAACACT 0.562000 22 51 5.61819e-17 8.39947e-17 0.693898 1 0 LMTK2 22853 broad.mit.edu 37 7 97821535 97821535 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:97821535G>C ENST00000297293.5 + 11 2051 c.1758G>C c.(1756-1758)ctG>ctC p.L586L NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 586 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GCCCTGAACTGTCCCAGCTCA 0.502000 44 49 0 0 0.870114 0 0 OR4C3 256144 broad.mit.edu 37 11 48346737 48346737 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:48346737C>A ENST00000319856.4 + 1 266 c.245C>A c.(244-246)tCc>tAc p.S82Y NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 ACGCTGGCTTCCCCTGTGTAT 0.458000 14 32 2.31682e-05 2.55215e-05 0.479597 1 0 KRT35 3886 broad.mit.edu 37 17 39635108 39635108 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:39635108G>A ENST00000246639.2 - 4 893 c.761C>T c.(760-762)gCt>gTt p.A254V KRT35_ENST00000393989.1_Missense_Mutation_p.A284V Q92764 KRT35_HUMAN keratin 35 284 Linker 12.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CCAGTCTTCAGCATCCCGGCG 0.552000 15 139 0 0 0.557998 0 0 PCBP1 5093 broad.mit.edu 37 2 70314904 70314904 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:70314904T>G ENST00000303577.5 + 1 320 c.29T>G c.(28-30)cTa>cGa p.L10R PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 10 nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 GAAAGTGGACTAAATGTGACT 0.577000 25 99 0 0 0.769981 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026338 129026338 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:129026338C>T ENST00000259241.6 - 2 647 c.634G>A c.(634-636)Gat>Aat p.D212N NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 212 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GTGCGCCCATCACACATATGC 0.637000 5 86 0 0 0.217242 0 0 TMEM131 23505 broad.mit.edu 37 2 98418391 98418391 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:98418391C>G ENST00000186436.5 - 25 2913 c.2685G>C c.(2683-2685)ttG>ttC p.L895F NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 895 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CTAGTGTTCTCAAATCTATCT 0.274000 8 53 0 0 0.361761 0 0 TMEM104 54868 broad.mit.edu 37 17 72832373 72832373 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:72832373C>A ENST00000335464.5 + 10 1200 c.1038C>A c.(1036-1038)gaC>gaA p.D346E TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.D346E|TMEM104_ENST00000417024.2_Intron NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 346 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) CGCGCTGTGACGTCGTGGGCC 0.607000 104 159 1.76152e-51 3.43724e-51 0.870114 1 0 XIRP2 129446 broad.mit.edu 37 2 168100129 168100129 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:168100129G>T ENST00000409195.1 + 9 2316 c.2227G>T c.(2227-2229)Gtt>Ttt p.V743F XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V521F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V743F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 568 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACCATTATATGTTATTAGAGA 0.373000 13 45 2.27111e-07 2.64111e-07 0.411799 1 0 LRRK1 79705 broad.mit.edu 37 15 101528857 101528857 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:101528857G>T ENST00000284395.5 + 6 843 c.443G>T c.(442-444)cGg>cTg p.R148L LRRK1_ENST00000388948.3_Missense_Mutation_p.R151L|LRRK1_ENST00000532029.2_Missense_Mutation_p.R151L Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 151 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGTCCCCAGCGGCTTCTGAAC 0.617000 61 64 2.23399e-28 3.91897e-28 0.870114 1 0 COL6A3 1293 broad.mit.edu 37 2 238277615 238277615 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:238277615G>T ENST00000295550.4 - 10 4943 c.4491C>A c.(4489-4491)gcC>gcA p.A1497A COL6A3_ENST00000353578.4_Silent_p.A1291A|COL6A3_ENST00000346358.4_Silent_p.A1297A|COL6A3_ENST00000472056.1_Silent_p.A890A|COL6A3_ENST00000347401.3_Silent_p.A1296A|COL6A3_ENST00000409809.1_Silent_p.A1291A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1497 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCAGCACCGGGGCCTGGGATC 0.537000 10 29 6.40141e-05 6.98497e-05 0.387290 1 0 DMBX1 127343 broad.mit.edu 37 1 46972776 46972776 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:46972776C>A ENST00000371956.4 + 1 109 c.94C>A c.(94-96)Cag>Aag p.Q32K DMBX1_ENST00000360032.3_Missense_Mutation_p.Q32K NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 32 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CCAGCAGGCCCAGCATGCCCC 0.637000 36 53 6.70999e-13 9.03409e-13 0.796494 1 0 GJD2 57369 broad.mit.edu 37 15 35044820 35044820 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:35044820C>A ENST00000290374.4 - 2 1301 c.825G>T c.(823-825)ctG>ctT p.L275L NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 275 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TGCGCCATCCCAGGTGGTTGA 0.512000 53 85 3.36121e-32 6.09238e-32 0.870114 1 0 CD300LB 124599 broad.mit.edu 37 17 72522107 72522107 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:72522107G>T ENST00000392621.1 - 2 265 c.261C>A c.(259-261)tgC>tgA p.C87* CD300LB_ENST00000314401.3_Nonsense_Mutation_p.C87* NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 50 Ig-like V-type. integral to membrane|plasma membrane receptor activity p.C87C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 GCACCCCTCGGCACCACCACT 0.547000 53 244 2.01871e-26 3.46393e-26 0.870114 1 0 KCNN3 3782 broad.mit.edu 37 1 154744779 154744779 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:154744779C>G ENST00000271915.3 - 3 1435 c.1120G>C c.(1120-1122)Gcc>Ccc p.A374P KCNN3_ENST00000358505.2_Missense_Mutation_p.A61P|KCNN3_ENST00000361147.4_Missense_Mutation_p.A69P NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 379 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGTGGATGGCGCACACCAGC 0.607000 17 38 0 0 0.557998 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190208 50190208 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:50190208G>A ENST00000335999.6 - 8 1636 c.1435C>T c.(1435-1437)Cag>Tag p.Q479* NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 475 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CGGGGGAGCTGGGGACTGAGC 0.657000 11 8 0 0 0.387290 0 0 SLC6A19 340024 broad.mit.edu 37 5 1214105 1214105 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:1214105C>T ENST00000304460.10 + 6 868 c.812C>T c.(811-813)gCg>gTg p.A271V NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 271 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGGCTGGACGCGGGCGCACAG 0.657000 5 138 0 0 0.217242 0 0 KDR 3791 broad.mit.edu 37 4 55946212 55946212 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:55946212C>A ENST00000263923.4 - 30 4262 c.3967G>T c.(3967-3969)Gaa>Taa p.E1323* RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1323 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGTTCTGCTTCCTCACTGGAG 0.537000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 75 125 3.99893e-49 7.75681e-49 0.870114 1 0 BICD2 23299 broad.mit.edu 37 9 95480174 95480174 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:95480174C>A ENST00000356884.6 - 6 2230 c.2163G>T c.(2161-2163)atG>atT p.M721I BICD2_ENST00000375512.3_Missense_Mutation_p.M721I NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 721 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 TCTCGGTAACCATGGCCTTCT 0.557000 57 33 1.95512e-22 3.20092e-22 0.870114 1 0 NRK 203447 broad.mit.edu 37 X 105150488 105150488 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:105150488A>T ENST00000428173.2 + 11 1230 c.927A>T c.(925-927)caA>caT p.Q309H NRK_ENST00000243300.9_Missense_Mutation_p.Q309H Q7Z2Y5 NRK_HUMAN Nik related kinase 309 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACATGCTTCAACACCCATTTG 0.343000 HNSCC(51;0.14) 4 3 0 0 0.150653 0 0 FRS3 10817 broad.mit.edu 37 6 41738849 41738849 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:41738849G>A ENST00000373018.3 - 7 1238 c.987C>T c.(985-987)ccC>ccT p.P329P FRS3_ENST00000259748.2_Silent_p.P329P NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 329 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCCACACAGGGGGCAGTGGGG 0.672000 25 41 0 0 0.729181 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32629937 32629937 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:32629937T>C ENST00000399084.1 - 4 646 c.468A>G c.(466-468)ccA>ccG p.P156P HLA-DQB1_ENST00000399082.3_Silent_p.P66P|HLA-DQB1_ENST00000434651.2_Silent_p.P156P|HLA-DQB1_ENST00000399079.3_Silent_p.P156P|HLA-DQB1_ENST00000374943.4_Silent_p.P156P|XXbac-BPG254F23.6_ENST00000443574.1_RNA P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 156 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGATCTGGCCTGGATAGAAAT 0.562000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 58 34 0 0 0.870114 0 0 NLGN2 57555 broad.mit.edu 37 17 7312025 7312025 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:7312025G>T ENST00000302926.2 + 1 524 c.451G>T c.(451-453)Gag>Tag p.E151* NLGN2_ENST00000575301.1_Nonsense_Mutation_p.E151* NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 151 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) CGTGCCCACCGAGGACGGTAA 0.642000 20 18 5.35047e-06 6.01545e-06 0.654019 1 0 LBP 3929 broad.mit.edu 37 20 36982794 36982794 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:36982794G>T ENST00000217407.2 + 4 640 c.479G>T c.(478-480)aGc>aTc p.S160I NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 160 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TCCAGCTGCAGCAGTGACATC 0.612000 10 34 4.68919e-08 5.54511e-08 0.361761 1 0 TMPRSS5 80975 broad.mit.edu 37 11 113558998 113558998 + Splice_Site SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:113558998T>G ENST00000299882.5 - 13 1508 c.e13-2 TMPRSS5_ENST00000536856.1_Splice_Site|TMPRSS5_ENST00000540540.1_Splice_Site|TMPRSS5_ENST00000538955.1_Splice_Site|TMPRSS5_ENST00000544476.1_Splice_Site|TMPRSS5_ENST00000545579.1_Splice_Site|TMPRSS5_ENST00000544634.1_Splice_Site NM_030770.2 NP_110397.2 Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 proteolysis integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) gagggagtcctagaccaaaag 0.502000 5 9 0 0 0.278610 0 0 BPTF 2186 broad.mit.edu 37 17 65920669 65920669 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:65920669G>C ENST00000321892.4 + 17 6154 c.6093G>C c.(6091-6093)gaG>gaC p.E2031D BPTF_ENST00000335221.5_Missense_Mutation_p.E2031D|BPTF_ENST00000306378.6_Missense_Mutation_p.E1905D|BPTF_ENST00000424123.3_Missense_Mutation_p.E1892D Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2031 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GCAGAGTGGAGAAAGAAAAGG 0.418000 29 54 0 0 0.788014 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29889679 29889679 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:29889679A>G ENST00000308713.5 - 10 2168 c.1641T>C c.(1639-1641)taT>taC p.Y547Y SEZ6L2_ENST00000350527.3_Silent_p.Y477Y|SEZ6L2_ENST00000537485.1_Silent_p.Y503Y|SEZ6L2_ENST00000346932.5_Silent_p.Y433Y NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 547 CUB 3. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGCCCGGGCTATAGCTCTGGG 0.607000 22 88 0 0 0.624587 0 0 PRG4 10216 broad.mit.edu 37 1 186275958 186275958 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:186275958C>G ENST00000445192.2 + 7 1152 c.1107C>G c.(1105-1107)acC>acG p.T369T PRG4_ENST00000367484.3_Silent_p.T328T|PRG4_ENST00000367486.3_Silent_p.T326T|PRG4_ENST00000367483.4_Silent_p.T328T|PRG4_ENST00000367485.4_Silent_p.T276T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 369 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCACACCTACCACCATCAAGT 0.617000 33 48 0 0 0.834066 0 0 DERA 51071 broad.mit.edu 37 12 16135363 16135363 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:16135363G>A ENST00000428559.2 + 6 842 c.630G>A c.(628-630)atG>atA p.M210I DERA_ENST00000526530.1_Missense_Mutation_p.M122I|DERA_ENST00000532964.1_Intron NM_015954.2 NP_057038.2 Q9Y315 DEOC_HUMAN deoxyribose-phosphate aldolase (putative) 210 deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process cytoplasm deoxyribose-phosphate aldolase activity|protein binding endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 Hepatocellular(102;0.121) TGATAGCAATGATGGCAGGTA 0.343000 24 140 0 0 0.740014 0 0 OBSCN 84033 broad.mit.edu 37 1 228491448 228491448 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:228491448G>T ENST00000570156.2 + 52 13885 c.13811G>T c.(13810-13812)tGt>tTt p.C4604F OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.C1294F|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3647 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTGCTGCAGTGTGAGCTGAGC 0.597000 19 62 6.94344e-10 8.6375e-10 0.539581 1 0 CCAR2 57805 broad.mit.edu 37 8 22470627 22470627 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:22470627C>T ENST00000308511.4 + 8 931 c.682C>T c.(682-684)Ctc>Ttc p.L228F KIAA1967_ENST00000389279.3_Missense_Mutation_p.L228F|KIAA1967_ENST00000520861.1_5'UTR Q8N163 K1967_HUMAN 228 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCGGGTCCACCTCACTCCTTA 0.532000 3 28 0 0 0.115264 0 0 RTTN 25914 broad.mit.edu 37 18 67781765 67781765 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:67781765C>G ENST00000255674.6 - 27 3885 c.3599G>C c.(3598-3600)cGg>cCg p.R1200P RTTN_ENST00000437017.1_Missense_Mutation_p.R1200P|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1200 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GACAGCAGTCCGGATATCATC 0.383000 46 45 0 0 0.870114 0 0 HDAC4 9759 broad.mit.edu 37 2 239976508 239976508 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:239976508C>T ENST00000345617.3 - 25 3801 c.3010G>A c.(3010-3012)Gtt>Att p.V1004I HDAC4_ENST00000543185.1_Missense_Mutation_p.V588I NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 1004 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TGCTGTAAAACCTTTTCTGGG 0.488000 42 77 0 0 0.870114 0 0 CCDC54 84692 broad.mit.edu 37 3 107096665 107096665 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:107096665A>T ENST00000261058.1 + 1 478 c.231A>T c.(229-231)caA>caT p.Q77H NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 77 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 AAACTGCTCAAGTTGAACTTT 0.383000 58 69 0 0 0.870114 0 0 GABRG1 2565 broad.mit.edu 37 4 46099355 46099355 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:46099355G>T ENST00000295452.4 - 2 283 c.116C>A c.(115-117)gCa>gAa p.A39E NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 39 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTCATCATCTGCCTTATCAAC 0.323000 33 51 5.04308e-16 7.37123e-16 0.819951 1 0 OPN4 94233 broad.mit.edu 37 10 88417887 88417887 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:88417887G>A ENST00000372071.2 + 4 649 c.422G>A c.(421-423)aGt>aAt p.S141N OPN4_ENST00000241891.5_Missense_Mutation_p.S130N NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 130 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 TTCTTCACCAGTAGCCTCTAT 0.562000 33 36 0 0 0.796494 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110023687 110023687 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:110023687G>T ENST00000453089.2 + 2 1605 c.724G>T c.(724-726)Gca>Tca p.A242S ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A273S|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A274S Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 273 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) AATAAAATTGGCAGTGGATTG 0.373000 8 19 0.000274275 0.000292451 0.307466 1 0 OR4M2 390538 broad.mit.edu 37 15 22368600 22368600 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:22368600G>T ENST00000332663.2 + 1 123 c.25G>T c.(25-27)Gtg>Ttg p.V9L RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTACACCAAGGTGACAGAATT 0.338000 32 318 2.1956e-27 3.80402e-27 0.796494 1 0 PDX1 3651 broad.mit.edu 37 13 28498625 28498625 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:28498625A>T ENST00000381033.4 + 2 758 c.639A>T c.(637-639)acA>acT p.T213T NM_000209.3 NP_000200.1 P52945 PDX1_HUMAN pancreatic and duodenal homeobox 1 213 detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation nucleus sequence-specific DNA binding transcription factor activity all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) GCGGCGGGACAGCTGTCGGGG 0.662000 16 9 0 0 0.557998 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420568 105420568 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:105420568C>T ENST00000333244.5 - 7 1339 c.1220G>A c.(1219-1221)gGa>gAa p.G407E NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 407 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGAGGGGTTCCCTCGCAAAG 0.632000 45 101 0 0 0.870114 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964974 88964974 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:88964974C>A ENST00000333190.4 + 4 3287 c.2678C>A c.(2677-2679)tCc>tAc p.S893Y NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 893 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAGTGTAACTCCGGGAATATC 0.443000 HNSCC(36;0.09) 24 68 1.1804e-14 1.6718e-14 0.667858 1 0 JAK3 3718 broad.mit.edu 37 19 17955180 17955180 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:17955180C>G ENST00000458235.1 - 2 146 c.47G>C c.(46-48)tGc>tCc p.C16S JAK3_ENST00000527670.1_Missense_Mutation_p.C16S|JAK3_ENST00000534444.1_Missense_Mutation_p.C16S|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 16 Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.C16Y(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CAAGAGGCTGCATGAACGCTG 0.632000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 3 14 0 0 0.184627 0 0 LVRN 206338 broad.mit.edu 37 5 115298331 115298331 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:115298331G>T ENST00000357872.4 + 1 141 c.17G>T c.(16-18)aGc>aTc p.S6I AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 6 proteolysis integral to membrane metallopeptidase activity|zinc ion binding CCCCCTTCCAGCTCAGGCTTC 0.687000 19 26 5.45024e-15 7.83223e-15 0.654019 1 0 MYO7A 4647 broad.mit.edu 37 11 76853800 76853800 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:76853800G>T ENST00000409709.3 + 3 336 c.64G>T c.(64-66)Gtg>Ttg p.V22L MYO7A_ENST00000409619.2_Missense_Mutation_p.V11L|MYO7A_ENST00000458637.2_Missense_Mutation_p.V22L|MYO7A_ENST00000409893.1_Missense_Mutation_p.V22L NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 22 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGAGTTCGACGTGCCCATCGG 0.627000 12 22 5.35267e-07 6.17712e-07 0.557998 1 0 AGMO 392636 broad.mit.edu 37 7 15599897 15599897 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:15599897C>A ENST00000342526.3 - 2 296 c.e2-1 NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 ATGGAGTTGCCTGGAAAGGAA 0.393000 16 49 1.50039e-11 1.97008e-11 0.608945 1 0 ACSM5 54988 broad.mit.edu 37 16 20422947 20422947 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:20422947G>A ENST00000331849.4 + 2 288 c.141G>A c.(139-141)caG>caA p.Q47Q ACSM5_ENST00000575584.1_Silent_p.Q47Q NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 47 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TGGGAAGGCAGCTGGTGCCTG 0.572000 18 75 0 0 0.681144 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288314 132288314 + Missense_Mutation SNP C C A rs147852548 byFrequency TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:132288314C>A ENST00000467992.2 + 1 1078 c.764C>A c.(763-765)gCg>gAg p.A255E CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.A153E Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 153 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GGGCGTCTTGCGGGCGGTAGC 0.627000 6 117 0.00307968 0.00320032 0.278610 1 0 PEX16 9409 broad.mit.edu 37 11 45935430 45935430 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:45935430C>A ENST00000532681.1 - 9 1405 c.542G>T c.(541-543)cGc>cTc p.R181L PEX16_ENST00000241041.3_Missense_Mutation_p.R276L|PEX16_ENST00000378750.5_Missense_Mutation_p.R276L Q9Y5Y5 PEX16_HUMAN peroxisomal biogenesis factor 16 276 ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane endoplasmic reticulum membrane|integral to peroxisomal membrane protein C-terminus binding large_intestine(2)|lung(2)|ovary(2)|skin(1) 7 GBM - Glioblastoma multiforme(35;0.223) GATGGTCCGGCGCCGCAGCTC 0.657000 16 17 1.3612e-06 1.54901e-06 0.479597 1 0 MUC16 94025 broad.mit.edu 37 19 9077008 9077008 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9077008C>T ENST00000397910.4 - 3 10641 c.10438G>A c.(10438-10440)Gga>Aga p.G3480R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3481 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTGTTTTTCCTCCTGAGGGA 0.493000 4 14 0 0 0.184627 0 0 P2RY10 27334 broad.mit.edu 37 X 78216338 78216338 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:78216338G>C ENST00000171757.2 + 4 601 c.321G>C c.(319-321)ctG>ctC p.L107L P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Silent_p.L107L NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 107 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CCCTTTGCCTGCTCTGCTTCT 0.478000 61 37 0 0 0.870114 0 0 LGALSL 29094 broad.mit.edu 37 2 64683515 64683515 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:64683515C>G ENST00000238875.5 + 4 745 c.291C>G c.(289-291)ctC>ctG p.L97L LGALSL_ENST00000409537.2_Intron NM_014181.2 NP_054900.2 Q3ZCW2 LEGL_HUMAN lectin, galactoside-binding-like 97 Galectin. intracellular sugar binding GGCAGCTACTCAGAAATTCTT 0.493000 36 269 0 0 0.834066 0 0 KLHL17 339451 broad.mit.edu 37 1 897850 897850 + Splice_Site SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:897850G>C ENST00000338591.3 + 5 934 c.828_splice c.e5+1 p.R276_splice NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 276 BACK. actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CATGTCCCACGGGTGAGGCGC 0.677000 9 37 0 0 0.335167 0 0 OR2T11 127077 broad.mit.edu 37 1 248789864 248789864 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248789864G>C ENST00000330803.2 - 1 627 c.566C>G c.(565-567)aCg>aGg p.T189R NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATACAAGGACGTGTCTGCACA 0.473000 21 77 0 0 0.639603 0 0 ZNF382 84911 broad.mit.edu 37 19 37118089 37118089 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:37118089C>A ENST00000435416.1 + 3 2782 c.1287C>A c.(1285-1287)caC>caA p.H429Q ZNF382_ENST00000439428.1_Missense_Mutation_p.H429Q|ZNF382_ENST00000292928.2_Missense_Mutation_p.H430Q|ZNF382_ENST00000423582.1_Missense_Mutation_p.H381Q Q96SR6 ZN382_HUMAN zinc finger protein 382 430 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGAGAACTCACACAGGAGAGA 0.463000 23 67 1.42536e-11 1.87406e-11 0.681144 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84604706 84604706 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:84604706C>A ENST00000344803.2 + 2 247 c.200C>A c.(199-201)gCc>gAc p.A67D NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CAGGGCAGAGCCAAGAGGAGA 0.453000 27 27 2.16457e-27 3.75358e-27 0.729181 1 0 SLC25A13 10165 broad.mit.edu 37 7 95813613 95813613 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:95813613C>A ENST00000416240.2 - 11 1346 c.1156G>T c.(1156-1158)Gaa>Taa p.E386* SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.E277*|SLC25A13_ENST00000265631.5_Nonsense_Mutation_p.E385* NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 385 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) AAGAAGCCTTCATAGCGTAGC 0.398000 57 109 3.63617e-18 5.54608e-18 0.870114 1 0 PGAP1 80055 broad.mit.edu 37 2 197708787 197708787 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:197708787A>T ENST00000354764.3 - 25 2464 c.2350T>A c.(2350-2352)Tct>Act p.S784T NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 784 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 CTTCTTCTAGAGTGTTTGGGA 0.318000 5 19 0 0 0.217242 0 0 TBX15 6913 broad.mit.edu 37 1 119441677 119441677 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:119441677T>C ENST00000369429.3 - 7 1007 c.998A>G c.(997-999)gAc>gGc p.D333G TBX15_ENST00000207157.3_Missense_Mutation_p.D227G Q96SF7 TBX15_HUMAN T-box 15 333 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GGTGGTGAAGTCTTCGAAGGT 0.517000 12 54 0 0 0.500413 0 0 GJC3 349149 broad.mit.edu 37 7 99526854 99526854 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:99526854G>A ENST00000312891.2 - 1 389 c.390C>T c.(388-390)agC>agT p.S130S NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 130 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) GCAGCCTGAGGCTTCCAGCCC 0.612000 73 157 0 0 0.870114 0 0 ANKRD17 26057 broad.mit.edu 37 4 74013045 74013045 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:74013045C>T ENST00000358602.4 - 9 1788 c.1672G>A c.(1672-1674)Gcc>Acc p.A558T ANKRD17_ENST00000514252.1_Intron|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A445T|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A558T NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 558 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCTATATCGGCTCCTGCCTTA 0.428000 23 64 0 0 0.706142 0 0 LRP1B 53353 broad.mit.edu 37 2 141274513 141274513 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:141274513G>T ENST00000389484.3 - 50 9065 c.8094C>A c.(8092-8094)acC>acA p.T2698T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2698 LDL-receptor class A 15. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGCATATCCAGGTATTCAAAA 0.333000 TSP Lung(27;0.18) 28 56 4.4194e-11 5.74903e-11 0.769981 1 0 GRHL2 79977 broad.mit.edu 37 8 102589634 102589634 + Splice_Site SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:102589634A>C ENST00000251808.3 + 7 1229 c.e7-1 GRHL2_ENST00000395927.1_Splice_Site NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TCCCCTCTGCAGAGTGTGGTG 0.488000 6 47 0 0 0.217242 0 0 NOTCH3 4854 broad.mit.edu 37 19 15299047 15299047 + Splice_Site SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:15299047C>G ENST00000263388.2 - 9 1566 c.1492_splice c.e9+1 p.S497_splice NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 497 EGF-like 12; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGTCCTCACCCGAGGGGCAGG 0.562000 4 8 0 0 0.150653 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115534717 115534717 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:115534717C>A ENST00000354462.3 + 3 302 c.144C>A c.(142-144)gcC>gcA p.A48A PLEKHS1_ENST00000369310.3_Silent_p.A298A|PLEKHS1_ENST00000361048.1_Silent_p.A304A|PLEKHS1_ENST00000369309.1_Silent_p.A118A|PLEKHS1_ENST00000369312.4_Silent_p.A216A pleckstrin homology domain containing, family S member 1 TTTCCCCTGCCGATGTGGAAG 0.473000 25 21 2.36697e-06 2.68111e-06 0.717897 1 0 ATP8A1 10396 broad.mit.edu 37 4 42583650 42583650 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:42583650G>T ENST00000381668.5 - 10 1053 c.822C>A c.(820-822)acC>acA p.T274T ATP8A1_ENST00000264449.10_Silent_p.T274T NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 274 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GCATCAGCTTGGTGTCATGTC 0.443000 46 73 1.11015e-26 1.90825e-26 0.870114 1 0 PARP10 84875 broad.mit.edu 37 8 145058991 145058991 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:145058991C>A ENST00000313028.7 - 5 1273 c.1179G>T c.(1177-1179)ggG>ggT p.G393G PARP10_ENST00000525773.1_Silent_p.G405G|PARP10_ENST00000524918.1_Silent_p.G393G NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 393 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCCCAGCAACCCCTTAGAGG 0.642000 90 48 2.98938e-21 4.78252e-21 0.870114 1 0 CMPK2 129607 broad.mit.edu 37 2 7001340 7001340 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:7001340C>T ENST00000256722.5 - 3 966 c.967G>A c.(967-969)Gcc>Acc p.A323T CMPK2_ENST00000458098.1_Missense_Mutation_p.A323T|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Missense_Mutation_p.A323T NM_207315.3 NP_997198.2 Q5EBM0 CMPK2_HUMAN cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 323 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GGAGATTTGGCAGATTCTTTA 0.398000 18 61 0 0 0.654019 0 0 C7orf26 79034 broad.mit.edu 37 7 6630053 6630053 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:6630053C>G ENST00000344417.5 + 1 406 c.139C>G c.(139-141)Ctg>Gtg p.L47V C7orf26_ENST00000359073.5_Missense_Mutation_p.L47V NM_024067.2 NP_076972.2 Q96N11 CG026_HUMAN chromosome 7 open reading frame 26 47 endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 11 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986) CCCCGTGGAGCTGCTGGAGGA 0.701000 5 21 0 0 0.217242 0 0 HOXC10 3226 broad.mit.edu 37 12 54379778 54379778 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:54379778G>T ENST00000303460.4 + 1 809 c.735G>T c.(733-735)tcG>tcT p.S245S NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 245 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20 CAGACACCTCGGATAACGAAG 0.662000 12 11 0.00010058 0.000109022 0.411799 1 0 NPAP1 23742 broad.mit.edu 37 15 24921592 24921592 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:24921592G>T ENST00000329468.2 + 1 1052 c.578G>T c.(577-579)gGc>gTc p.G193V NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGGTCCCAGGGCACCCAGGGA 0.577000 10 13 0.00010058 0.000109022 0.411799 1 0 PSG5 5673 broad.mit.edu 37 19 43689075 43689075 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:43689075C>G ENST00000404580.1 - 2 377 c.289G>C c.(289-291)Gga>Cga p.G97R PSG5_ENST00000599812.1_Missense_Mutation_p.G97R|PSG5_ENST00000407568.1_Missense_Mutation_p.G97R|PSG5_ENST00000407356.1_Missense_Mutation_p.G97R|PSG5_ENST00000366175.3_Missense_Mutation_p.G97R|PSG5_ENST00000342951.6_Missense_Mutation_p.G97R|PSG5_ENST00000401992.1_5'UTR Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 97 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GTTTCTCGTCCAGTGTATGCA 0.438000 61 79 0 0 0.870114 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55020133 55020133 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:55020133G>A ENST00000324000.3 + 1 2090 c.56G>A c.(55-57)aGc>aAc p.S19N NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 19 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GTCATGCTCAGCGTCGCCCTG 0.597000 29 29 0 0 0.796494 0 0 HYDIN 54768 broad.mit.edu 37 16 70935009 70935009 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:70935009T>C ENST00000393567.2 - 53 9096 c.8946A>G c.(8944-8946)gtA>gtG p.V2982V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2982 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GCATCAGGGATACAGTGAAAT 0.572000 26 132 0 0 0.706142 0 0 FOXF2 2295 broad.mit.edu 37 6 1390746 1390746 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:1390746G>A ENST00000259806.1 + 1 678 c.564G>A c.(562-564)tcG>tcA p.S188S NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 188 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) AGGAGGGCTCGTTCCGCCGCC 0.692000 19 72 0 0 0.608945 0 0 NOTCH4 4855 broad.mit.edu 37 6 32172111 32172111 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:32172111G>T ENST00000375023.3 - 19 3059 c.2921C>A c.(2920-2922)tCc>tAc p.S974Y NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 974 EGF-like 25. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ACAGGGTTGGGACTGACAAGC 0.557000 15 76 8.00594e-06 8.96501e-06 0.557998 1 0 OR5B21 219968 broad.mit.edu 37 11 58275102 58275102 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:58275102T>A ENST00000360374.2 - 1 476 c.477A>T c.(475-477)gcA>gcT p.A159A NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGAAGGTGCCTGCTGCATGGA 0.507000 44 52 0 0 0.870114 0 0 ABCA9 10350 broad.mit.edu 37 17 67023539 67023539 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:67023539C>A ENST00000340001.4 - 14 2054 c.1843G>T c.(1843-1845)Gct>Tct p.A615S ABCA9_ENST00000453985.2_Missense_Mutation_p.A615S|ABCA9_ENST00000370732.2_Missense_Mutation_p.A615S NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 615 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AAGTTTTGAGCAAGGATGTCT 0.318000 11 19 0.000978159 0.00103233 0.387290 1 0 KIAA0947 23379 broad.mit.edu 37 5 5461306 5461306 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:5461306A>C ENST00000296564.7 + 13 2081 c.1859A>C c.(1858-1860)gAt>gCt p.D620A NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 620 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GATGGAATGGATGTAGCAGGG 0.418000 45 54 0 0 0.870114 0 0 CPVL 54504 broad.mit.edu 37 7 29035436 29035436 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:29035436C>A ENST00000409850.1 - 17 2029 c.1383G>T c.(1381-1383)atG>atT p.M461I CPVL_ENST00000265394.5_Missense_Mutation_p.M461I|CPVL_ENST00000396276.3_Missense_Mutation_p.M461I Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 461 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 ATCGATTAATCATGTCAAAAG 0.348000 4 70 0.00116845 0.00122524 0.217242 1 0 RAI1 10743 broad.mit.edu 37 17 17698231 17698231 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:17698231G>T ENST00000353383.1 + 3 2438 c.1969G>T c.(1969-1971)Gcg>Tcg p.A657S RAI1_ENST00000261641.6_Missense_Mutation_p.A657S NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 657 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GGCCAAGAGTGCGTGGCCCCG 0.652000 21 21 3.01185e-09 3.68365e-09 0.667858 1 0 ENAM 10117 broad.mit.edu 37 4 71508841 71508841 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:71508841T>A ENST00000396073.3 + 9 1979 c.1698T>A c.(1696-1698)acT>acA p.T566T ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 566 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GAAGAAATACTTGGGACCACC 0.438000 101 148 0 0 0.870114 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48598508 48598508 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:48598508C>T ENST00000323776.5 + 8 1245 c.1083C>T c.(1081-1083)acC>acT p.T361T MYCBPAP_ENST00000436259.2_Silent_p.T324T NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 324 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) ACCGCTACACCTGGGATCGGA 0.572000 11 24 0 0 0.479597 0 0 OR8B2 26595 broad.mit.edu 37 11 124252556 124252556 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:124252556G>C ENST00000375013.2 - 1 702 c.684C>G c.(682-684)atC>atG p.I228M NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GAGTGGATTTGATATGAAGAA 0.393000 26 72 0 0 0.859065 0 0 OR2S2 56656 broad.mit.edu 37 9 35957273 35957273 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:35957273C>A ENST00000341959.2 - 1 878 c.823G>T c.(823-825)Gat>Tat p.D275Y NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) TCTGAAAGATCCTCTTTGTCT 0.512000 6 95 5.9392e-07 6.82591e-07 0.217242 1 0 NEBL 10529 broad.mit.edu 37 10 21101712 21101712 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:21101712G>A ENST00000377122.4 - 24 2900 c.2504C>T c.(2503-2505)cCt>cTt p.P835L NEBL_ENST00000377159.4_Missense_Mutation_p.P138L|NEBL_ENST00000417816.2_Missense_Mutation_p.P172L NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 835 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AATGATTCCAGGTCTCCTGTC 0.522000 15 47 0 0 0.575678 0 0 ADORA2A 135 broad.mit.edu 37 22 24829648 24829648 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:24829648C>G ENST00000337539.7 + 2 735 c.276C>G c.(274-276)atC>atG p.I92M KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1 NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1 P29274 AA2AR_HUMAN adenosine A2a receptor 92 apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) AGAGCTCCATCTTCAGTCTCC 0.617000 15 65 0 0 0.592651 0 0 ACTN2 88 broad.mit.edu 37 1 236914818 236914818 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:236914818G>A ENST00000366578.4 + 15 1871 c.1705G>A c.(1705-1707)Gac>Aac p.D569N ACTN2_ENST00000542672.1_Missense_Mutation_p.D569N|ACTN2_ENST00000546208.1_Missense_Mutation_p.D63N NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 569 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GCCCGAGGCGGACGGAGAGCG 0.527000 17 79 0 0 0.608945 0 0 OR6C1 390321 broad.mit.edu 37 12 55714963 55714963 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:55714963G>T ENST00000379668.2 + 1 618 c.580G>T c.(580-582)Gag>Tag p.E194* NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 AAAATTCTTAGAGGTGATGGG 0.338000 38 31 2.47872e-24 4.16587e-24 0.853193 1 0 CSMD2 114784 broad.mit.edu 37 1 34112422 34112422 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:34112422G>T ENST00000373381.4 - 29 4776 c.4600C>A c.(4600-4602)Cct>Act p.P1534T CSMD2_ENST00000373380.1_Missense_Mutation_p.P407T|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1494 CUB 9. 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) TCATAGCCAGGCTCCAGGTTA 0.542000 3 7 0.00909568 0.00932367 0.150653 1 0 ARMC12 221481 broad.mit.edu 37 6 35705826 35705826 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:35705826G>A ENST00000373866.3 + 2 208 c.186G>A c.(184-186)cgG>cgA p.R62R ARMC12_ENST00000288065.2_Silent_p.R89R|ARMC12_ENST00000373869.3_Silent_p.R62R Q5T9G4 CF081_HUMAN armadillo repeat containing 12 62 binding AGCGAGAGCGGCACGGGCGGG 0.582000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 155 0 0 0.750413 0 0 PDLIM3 27295 broad.mit.edu 37 4 186423463 186423463 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:186423463C>G ENST00000284770.5 - 8 1153 c.1080G>C c.(1078-1080)ctG>ctC p.L360L PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.L312L NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 360 sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) CTTTGGGATACAGAGTGACCG 0.557000 35 52 0 0 0.864702 0 0 ZXDC 79364 broad.mit.edu 37 3 126180822 126180822 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:126180822C>G ENST00000389709.3 - 6 1736 c.1683G>C c.(1681-1683)ggG>ggC p.G561G ZXDC_ENST00000336332.5_Silent_p.G561G NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 561 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) GTTCCATCGGCCCTAGGGAGC 0.592000 22 49 0 0 0.624587 0 0 CADPS2 93664 broad.mit.edu 37 7 122091530 122091530 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:122091530C>A ENST00000334010.7 - 14 2611 c.e14-1 CADPS2_ENST00000412584.2_Splice_Site|CADPS2_ENST00000449022.2_Splice_Site|CADPS2_ENST00000313070.7_Splice_Site NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TCCATCAGGCCTGAAAAAAAA 0.294000 17 31 7.41877e-09 8.92425e-09 0.608945 1 0 KIF5A 3798 broad.mit.edu 37 12 57960917 57960917 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:57960917T>A ENST00000455537.2 + 7 784 c.510T>A c.(508-510)acT>acA p.T170T KIF5A_ENST00000286452.5_Silent_p.T81T NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 170 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AGGGTTGTACTGAACGCTTTG 0.388000 88 68 0 0 0.870114 0 0 CXorf23 256643 broad.mit.edu 37 X 19971151 19971151 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:19971151C>A ENST00000379687.3 - 6 1617 c.1584G>T c.(1582-1584)ttG>ttT p.L528F CXorf23_ENST00000379682.4_Missense_Mutation_p.L528F|CXorf23_ENST00000356980.3_Missense_Mutation_p.L528F NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 528 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 GAAGCTCGGCCAAAGACATAT 0.313000 21 30 3.83957e-06 4.32668e-06 0.639603 1 0 TRPM2 7226 broad.mit.edu 37 21 45833830 45833830 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:45833830A>G ENST00000397928.1 + 20 3464 c.3019A>G c.(3019-3021)Aag>Gag p.K1007E TRPM2_ENST00000300481.9_Missense_Mutation_p.K987E|TRPM2_ENST00000300482.5_Missense_Mutation_p.K1007E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.K1007E NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1007 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTACAAGCCTAAGTGCCCCGA 0.612000 127 197 0 0 0.870114 0 0 SOHLH1 402381 broad.mit.edu 37 9 138587040 138587040 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:138587040C>A ENST00000298466.5 - 6 791 c.731G>T c.(730-732)tGg>tTg p.W244L SOHLH1_ENST00000425225.1_Missense_Mutation_p.W244L NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 244 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) GAACGGAGGCCAGGACAGGGG 0.682000 3 2 0.115264 0.116331 0.115264 1 0 NETO2 81831 broad.mit.edu 37 16 47117283 47117283 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:47117283C>A ENST00000562435.1 - 9 1811 c.1427G>T c.(1426-1428)aGc>aTc p.S476I NETO2_ENST00000303155.5_Missense_Mutation_p.S469I NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 476 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CTTGAAGGTGCTATTAAATGT 0.458000 HNSCC(25;0.065) 54 117 1.4709e-25 2.5064e-25 0.870114 1 0 LOX 4015 broad.mit.edu 37 5 121412656 121412656 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:121412656C>A ENST00000231004.4 - 2 971 c.672G>T c.(670-672)gcG>gcT p.A224A LOX_ENST00000513319.1_Intron NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 224 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) CGTACGTGGACGCCTGGATGT 0.627000 OREG0016741 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 34 4.01344e-20 6.3027e-20 0.870114 1 0 SLC7A13 157724 broad.mit.edu 37 8 87235201 87235201 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:87235201C>A ENST00000297524.3 - 2 920 c.817_splice c.e2+1 p.D273_splice SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Splice_Site_p.D264_splice NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 273 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GCATACAAACCTGAAGAGAGA 0.373000 24 116 2.79863e-10 3.54433e-10 0.681144 1 0 BFSP2 8419 broad.mit.edu 37 3 133169150 133169150 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:133169150G>A ENST00000302334.2 + 4 822 c.733G>A c.(733-735)Gtg>Atg p.V245M BFSP2_ENST00000511434.1_3'UTR|RP11-91K8.1_ENST00000515542.1_RNA NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 245 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 TTTTCAGGATGTGAAGCTGCT 0.453000 25 73 0 0 0.760397 0 0 LILRB1 10859 broad.mit.edu 37 19 55143424 55143424 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:55143424C>G ENST00000396331.1 + 6 754 c.397C>G c.(397-399)Ccc>Gcc p.P133A LILRB1_ENST00000396317.1_Missense_Mutation_p.P133A|LILRB1_ENST00000448689.1_Missense_Mutation_p.P133A|LILRB1_ENST00000396315.1_Missense_Mutation_p.P133A|LILRB1_ENST00000418536.2_Missense_Mutation_p.P133A|LILRB1_ENST00000396321.2_Missense_Mutation_p.P133A|LILRB1_ENST00000427581.2_Missense_Mutation_p.P169A|LILRB1_ENST00000324602.7_Missense_Mutation_p.P133A|LILRB1_ENST00000396332.4_Missense_Mutation_p.P133A|LILRB1_ENST00000434867.2_Missense_Mutation_p.P133A|LILRB1_ENST00000396327.3_Missense_Mutation_p.P133A NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 133 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCAGCCCAGCCCCGTGGTGAA 0.557000 HNSCC(37;0.09) 17 84 0 0 0.539581 0 0 OR4N4 283694 broad.mit.edu 37 15 22383072 22383072 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:22383072C>T ENST00000328795.4 + 1 691 c.600C>T c.(598-600)gtC>gtT p.V200V RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTCTAATGGTCTTCAACAGTG 0.517000 36 96 0 0 0.796494 0 0 HTRA4 203100 broad.mit.edu 37 8 38840043 38840043 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:38840043C>A ENST00000302495.4 + 7 1241 c.1141C>A c.(1141-1143)Ctg>Atg p.L381M NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 381 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) TAAGAAATATCTGGGTCTGCA 0.418000 37 41 2.52991e-16 3.72838e-16 0.870114 1 0 GRID1 2894 broad.mit.edu 37 10 87484118 87484118 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:87484118C>T ENST00000327946.7 - 11 1934 c.1849G>A c.(1849-1851)Gta>Ata p.V617I GRID1_ENST00000536331.1_Missense_Mutation_p.V188I NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 617 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CCTTGCTGTACGAAGGCTCCA 0.517000 Multiple Myeloma(13;0.14) 13 15 0 0 0.520397 0 0 LSM7 51690 broad.mit.edu 37 19 2324190 2324190 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:2324190C>A ENST00000252622.9 - 3 152 c.103G>T c.(103-105)Gga>Tga p.G35* LSM7_ENST00000589532.1_5'UTR NM_016199.2 NP_057283.1 Q9UK45 LSM7_HUMAN LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) 35 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding kidney(1)|urinary_tract(1) 2 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) TTCAGGATTCCACTGGCTTGG 0.627000 4 5 8.12818e-05 8.83968e-05 0.248553 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254149 39254149 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:39254149G>T ENST00000333822.4 - 1 244 c.188C>A c.(187-189)aCc>aAc p.T63N NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 63 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 GCGACAGCAGGTGGGCTGGCA 0.652000 7 137 4.35082e-09 5.29161e-09 0.592651 1 0 EDA2R 60401 broad.mit.edu 37 X 65824998 65824998 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:65824998C>T ENST00000374719.3 - 3 214 c.158G>A c.(157-159)tGg>tAg p.W53* EDA2R_ENST00000396050.1_Nonsense_Mutation_p.W53*|EDA2R_ENST00000253392.5_Nonsense_Mutation_p.W53*|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000456230.2_Nonsense_Mutation_p.W53*|EDA2R_ENST00000450752.1_Nonsense_Mutation_p.W53* NM_021783.3 NP_068555.1 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 53 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 GTGGTGGCCCCAGCTGCTTTT 0.522000 10 12 0 0 0.361761 0 0 SNRNP200 23020 broad.mit.edu 37 2 96944045 96944045 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:96944045T>A ENST00000323853.5 - 39 5617 c.5540A>T c.(5539-5541)gAg>gTg p.E1847V SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1847 SEC63 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 GGAGATGATCTCGATAAGCCC 0.502000 27 96 0 0 0.750413 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187709484 187709484 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:187709484C>A ENST00000295131.2 - 3 282 c.242_splice c.e3-1 p.W81_splice NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 81 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TCAACAAGACCCTAACATTCA 0.254000 8 61 6.40141e-05 6.98497e-05 0.387290 1 0 TACR1 6869 broad.mit.edu 37 2 75280801 75280801 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:75280801T>A ENST00000305249.4 - 3 1431 c.666A>T c.(664-666)acA>acT p.T222T TACR1_ENST00000409848.3_Silent_p.T222T NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 222 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) TGGCCCATAGTGTGATTCCCA 0.562000 OREG0014726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 62 0 0 0.870114 0 0 PLIN4 729359 broad.mit.edu 37 19 4513513 4513513 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:4513513G>T ENST00000301286.3 - 3 416 c.417C>A c.(415-417)gcC>gcA p.A139A NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 139 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 CCCCTTGGACGGCCCCCTTAG 0.657000 9 30 0.000274275 0.000292451 0.307466 1 0 ACADL 33 broad.mit.edu 37 2 211053748 211053748 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:211053748G>C ENST00000233710.3 - 11 1457 c.1230C>G c.(1228-1230)atC>atG p.I410M AC006994.2_ENST00000412065.1_RNA NM_001608.3 NP_001599.1 P28330 ACADL_HUMAN acyl-CoA dehydrogenase, long chain 410 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) TACCACCATAGATTGGCTGAA 0.358000 6 105 0 0 0.278610 0 0 CORO1B 57175 broad.mit.edu 37 11 67208691 67208691 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:67208691C>A ENST00000393893.1 - 7 764 c.661G>T c.(661-663)Gcc>Tcc p.A221S CORO1B_ENST00000341356.5_Missense_Mutation_p.A221S|CORO1B_ENST00000453768.2_Missense_Mutation_p.A221S NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 221 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) ATGGGCCGGGCCCCCTCATGA 0.667000 63 141 2.13431e-38 4.00157e-38 0.870114 1 0 ELAVL3 1995 broad.mit.edu 37 19 11565634 11565634 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:11565634C>T ENST00000359227.3 - 7 1235 c.811G>A c.(811-813)Gcg>Acg p.A271T ELAVL3_ENST00000438662.2_Missense_Mutation_p.A264T NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 271 cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 CCCACGCCCGCCAGGCCGCTC 0.687000 36 70 0 0 0.804634 0 0 GABRG1 2565 broad.mit.edu 37 4 46043188 46043188 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:46043188C>A ENST00000295452.4 - 9 1382 c.1215G>T c.(1213-1215)caG>caT p.Q405H NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 405 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCTCCAAACACTGATACCCAT 0.433000 31 61 5.8336e-16 8.50138e-16 0.779181 1 0 FDX1 2230 broad.mit.edu 37 11 110327749 110327749 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:110327749C>G ENST00000260270.2 + 3 656 c.418C>G c.(418-420)Ctg>Gtg p.L140V NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 140 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) CATGCTCGATCTGGCATATGG 0.388000 63 148 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179575888 179575888 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179575888T>A ENST00000589042.1 - 97 28299 c.28075A>T c.(28075-28077)Aat>Tat p.N9359Y TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N8115Y|TTN_ENST00000591111.1_Missense_Mutation_p.N9042Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9042 Ig-like 76. 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) TTAAAAATATTGAGTGTGGCT 0.453000 53 100 0 0 0.870114 0 0 PPP1R10 5514 broad.mit.edu 37 6 30570323 30570323 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:30570323T>A ENST00000376511.2 - 19 2655 c.2103A>T c.(2101-2103)ggA>ggT p.G701G NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 701 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TATGGTATGGTCCAGGACCTG 0.687000 7 6 0 0 0.248553 0 0 DUSP27 92235 broad.mit.edu 37 1 167097391 167097391 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:167097391C>T ENST00000361200.2 + 6 3189 c.3023C>T c.(3022-3024)tCa>tTa p.S1008L DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.S1008L|DUSP27_ENST00000271385.5_Missense_Mutation_p.S1008L Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1008 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TCACGGTTCTCATCTTCCTCC 0.532000 9 82 0 0 0.361761 0 0 PFAS 5198 broad.mit.edu 37 17 8159725 8159725 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:8159725G>T ENST00000314666.6 + 7 954 c.821_splice c.e7+1 p.S274_splice PFAS_ENST00000545834.1_5'UTR NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 274 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GATAACAGCAGGTGCTGTGCC 0.577000 57 44 9.07738e-34 1.65603e-33 0.870114 1 0 UTP20 27340 broad.mit.edu 37 12 101682746 101682746 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:101682746G>T ENST00000261637.4 + 6 698 c.524G>T c.(523-525)aGc>aTc p.S175I NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 175 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AGCATGTACAGCACACTCCTG 0.294000 20 20 3.28513e-13 4.46896e-13 0.667858 1 0 RSPO3 84870 broad.mit.edu 37 6 127440410 127440410 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:127440410T>A ENST00000356698.4 + 1 662 c.73T>A c.(73-75)Tcc>Acc p.S25T RSPO3_ENST00000368317.3_Missense_Mutation_p.S25T NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 25 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) CCAAAACGCCTCCCGGGGAAG 0.522000 48 49 0 0 0.870114 0 0 PPP1R21 129285 broad.mit.edu 37 2 48713850 48713850 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:48713850G>T ENST00000294952.8 + 14 1556 c.1399G>T c.(1399-1401)Gac>Tac p.D467Y PPP1R21_ENST00000449090.2_Missense_Mutation_p.D467Y|PPP1R21_ENST00000281394.4_Missense_Mutation_p.D467Y NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 467 endometrium(2)|kidney(4)|lung(9) 15 AACAACTAATGACTGTATCCT 0.338000 19 78 3.7963e-18 5.77238e-18 0.654019 1 0 MEX3B 84206 broad.mit.edu 37 15 82336368 82336368 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:82336368G>T ENST00000329713.4 - 2 1278 c.843C>A c.(841-843)ttC>ttA p.F281L MEX3B_ENST00000558133.1_3'UTR NM_032246.3 NP_115622.2 Q6ZN04 MEX3B_HUMAN mex-3 RNA binding family member B 281 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 GGTAGCTAGAGAAAGGCTTGC 0.672000 9 30 4.68919e-08 5.54511e-08 0.361761 1 0 SIGLEC7 27036 broad.mit.edu 37 19 51649147 51649147 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:51649147G>T ENST00000317643.6 + 4 865 c.796G>T c.(796-798)Gtc>Ttc p.V266F SIGLEC7_ENST00000305628.7_Missense_Mutation_p.V173F|SIGLEC7_ENST00000600577.1_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 266 Ig-like C2-type 2. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ATCTCTTTCAGTCCTAGAGGG 0.527000 52 138 5.89852e-23 9.74645e-23 0.870114 1 0 PARD3 56288 broad.mit.edu 37 10 34558795 34558795 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:34558795C>A ENST00000374789.3 - 22 3543 c.3218G>T c.(3217-3219)cGa>cTa p.R1073L PARD3_ENST00000374788.3_Missense_Mutation_p.R1070L|PARD3_ENST00000374794.3_Missense_Mutation_p.R961L|PARD3_ENST00000374790.3_Missense_Mutation_p.R1013L|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000545693.1_Missense_Mutation_p.R1057L|PARD3_ENST00000346874.4_Missense_Mutation_p.R1036L|PARD3_ENST00000350537.4_Missense_Mutation_p.R1027L|PARD3_ENST00000545260.1_Missense_Mutation_p.R983L NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1073 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TCGAGCTTGTCGTTCCCTAAA 0.373000 6 19 0.0381472 0.0386792 0.278610 1 0 FOXI1 2299 broad.mit.edu 37 5 169533258 169533258 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:169533258G>A ENST00000449804.2 + 1 342 c.297G>A c.(295-297)gtG>gtA p.V99V FOXI1_ENST00000306268.6_Silent_p.V99V NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 99 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCCCAGCGTGTCGGGGCTTG 0.701000 Pendred syndrome 6 2 0 0 0.217242 0 0 ZNF607 84775 broad.mit.edu 37 19 38189613 38189613 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:38189613T>A ENST00000355202.4 - 5 2014 c.1419A>T c.(1417-1419)ggA>ggT p.G473G ZNF607_ENST00000395835.3_Silent_p.G472G|CTD-2528L19.4_ENST00000586606.2_Intron NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) AGGGTTTCTCTCCTGTATGAA 0.378000 21 73 0 0 0.608945 0 0 MKRN3 7681 broad.mit.edu 37 15 23812141 23812141 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:23812141G>A ENST00000314520.3 + 1 1688 c.1212G>A c.(1210-1212)gcG>gcA p.A404A MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 404 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGTATTTTGCGGAAGGCAGGG 0.522000 27 84 0 0 0.769981 0 0 LPHN3 23284 broad.mit.edu 37 4 62598793 62598793 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:62598793G>T ENST00000512091.1 + 7 1463 c.716G>T c.(715-717)aGt>aTt p.S239I LPHN3_ENST00000511324.1_Missense_Mutation_p.S307I|LPHN3_ENST00000508946.1_Missense_Mutation_p.S239I|LPHN3_ENST00000545650.1_Missense_Mutation_p.S239I|LPHN3_ENST00000508693.1_Missense_Mutation_p.S307I|LPHN3_ENST00000507625.1_Missense_Mutation_p.S307I|LPHN3_ENST00000514996.1_Missense_Mutation_p.S239I|LPHN3_ENST00000507164.1_Missense_Mutation_p.S307I|LPHN3_ENST00000504896.1_Missense_Mutation_p.S239I|LPHN3_ENST00000514157.1_Missense_Mutation_p.S239I|LPHN3_ENST00000506746.1_Missense_Mutation_p.S307I|LPHN3_ENST00000506700.1_Missense_Mutation_p.S239I|LPHN3_ENST00000514591.1_Missense_Mutation_p.S239I|LPHN3_ENST00000509896.1_Missense_Mutation_p.S307I|LPHN3_ENST00000506720.1_Missense_Mutation_p.S307I Q9HAR2 LPHN3_HUMAN latrophilin 3 239 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 AGGATAAAGAGTGGAGAGGCT 0.453000 4 33 5.9392e-07 6.82591e-07 0.217242 1 0 NUAK2 81788 broad.mit.edu 37 1 205273623 205273623 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:205273623C>A ENST00000367157.3 - 7 968 c.842G>T c.(841-843)cGg>cTg p.R281L NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 281 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CAACAGCCACCGGATCAGGCC 0.627000 3 7 0.150653 0.151814 0.150653 1 0 PREB 10113 broad.mit.edu 37 2 27355151 27355151 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:27355151C>A ENST00000260643.2 - 6 1126 c.873G>T c.(871-873)ttG>ttT p.L291F PREB_ENST00000406567.3_Intron NM_013388.4 NP_037520.1 Q9HCU5 PREB_HUMAN prolactin regulatory element binding 291 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCGAAGGGGCAAGAAGTTGG 0.617000 35 142 1.69901e-12 2.26882e-12 0.812448 1 0 ROBO4 54538 broad.mit.edu 37 11 124755027 124755027 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:124755027G>T ENST00000306534.3 - 17 3396 c.2911C>A c.(2911-2913)Cgg>Agg p.R971R RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.R826R NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 971 angiogenesis|cell differentiation integral to membrane receptor activity p.R971W(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CTTCCCAGCCGCTGGGTGTGG 0.622000 46 85 1.30409e-13 1.79267e-13 0.870114 1 0 HNRNPAB 3182 broad.mit.edu 37 5 177632992 177632992 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:177632992A>G ENST00000358344.3 + 3 616 c.359A>G c.(358-360)gAt>gGt p.D120G HNRNPAB_ENST00000506259.1_Missense_Mutation_p.D120G|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.D120G|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.D120G|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.D120G|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.D120G|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.D120G NM_031266.2 NP_112556.2 Q99729 ROAA_HUMAN heterogeneous nuclear ribonucleoprotein A/B 119 RRM 1. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding large_intestine(4)|prostate(1)|urinary_tract(1) 6 CTGTTCAAAGATGCAGCCAGT 0.418000 84 51 0 0 0.870114 0 0 USH2A 7399 broad.mit.edu 37 1 216256866 216256866 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:216256866A>C ENST00000366943.2 - 26 5616 c.5230T>G c.(5230-5232)Ttc>Gtc p.F1744V RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.F1744V|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1744 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCAGTTCTGAACTTAAAGGAA 0.294000 HNSCC(13;0.011) 27 86 0 0 0.740014 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687891 68687891 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:68687891C>A ENST00000361320.4 + 2 1795 c.1217C>A c.(1216-1218)cCa>cAa p.P406Q CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 406 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 GAGCCCGGCCCAGAGACCGAT 0.607000 20 32 6.44725e-10 8.05086e-10 0.624587 1 0 HGF 3082 broad.mit.edu 37 7 81372684 81372684 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:81372684C>A ENST00000222390.5 - 7 1076 c.850G>T c.(850-852)Gca>Tca p.A284S HGF_ENST00000457544.2_Missense_Mutation_p.A279S|HGF_ENST00000453411.1_Missense_Mutation_p.A279S|HGF_ENST00000444829.2_Missense_Mutation_p.A284S NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 284 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GTTTTAATTGCACAGTACTCC 0.473000 55 95 3.56336e-21 5.69615e-21 0.870114 1 0 LRRC6 23639 broad.mit.edu 37 8 133595942 133595942 + Splice_Site SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:133595942T>C ENST00000519595.1 - 11 1323 c.1226_splice c.e11+1 p.R409_splice LRRC6_ENST00000518642.1_Splice_Site_p.S406_splice|LRRC6_ENST00000250173.1_Splice_Site_p.R409_splice Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 409 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGGTGGTACCTTGTATTTGTT 0.373000 4 111 0 0 0.184627 0 0 CHAT 1103 broad.mit.edu 37 10 50824639 50824639 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:50824639T>A ENST00000395562.2 + 3 601 c.132T>A c.(130-132)agT>agA p.S44R CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Missense_Mutation_p.S8R|CHAT_ENST00000351556.3_Missense_Mutation_p.S8R|CHAT_ENST00000339797.1_Missense_Mutation_p.S8R|CHAT_ENST00000337653.2_Missense_Mutation_p.S126R|CHAT_ENST00000455728.2_Missense_Mutation_p.S8R NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 126 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CTCCCAGCAGTGAGGAGTCTG 0.582000 11 8 0 0 0.435327 0 0 BTBD9 114781 broad.mit.edu 37 6 38312814 38312814 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:38312814C>G ENST00000481247.1 - 7 1361 c.1210G>C c.(1210-1212)Gct>Cct p.A404P BTBD9_ENST00000419706.2_Missense_Mutation_p.A374P|BTBD9_ENST00000314100.6_Missense_Mutation_p.A336P|BTBD9_ENST00000408958.1_Missense_Mutation_p.A336P|BTBD9_ENST00000403056.1_Missense_Mutation_p.A404P NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 404 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 CATTCAAAAGCCACAATGTGA 0.333000 44 91 0 0 0.870114 0 0 CXXC11 285093 broad.mit.edu 37 2 242814932 242814932 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:242814932A>T ENST00000343216.3 + 2 1253 c.1225A>T c.(1225-1227)Aat>Tat p.N409Y NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 409 integral to membrane GCCAGAGACCAATGCTGGTGG 0.612000 3 37 0 0 0.184627 0 0 ZNF680 340252 broad.mit.edu 37 7 64004715 64004715 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:64004715C>T ENST00000309683.6 - 2 277 c.126G>A c.(124-126)atG>atA p.M42I ZNF680_ENST00000447137.2_Missense_Mutation_p.M42I|ZNF680_ENST00000476563.1_Intron NM_178558.4 NP_848653.2 Q8NEM1 ZN680_HUMAN zinc finger protein 680 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) AGTTCTCAAACATCACTTTCC 0.413000 61 192 0 0 0.870114 0 0 ZNF257 113835 broad.mit.edu 37 19 22271502 22271502 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:22271502A>G ENST00000594947.1 + 4 1094 c.950A>G c.(949-951)aAa>aGa p.K317R NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 317 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AAACCCTACAAATGTGAAGAG 0.428000 17 40 0 0 0.654019 0 0 ZNF536 9745 broad.mit.edu 37 19 30936020 30936020 + Silent SNP C C T rs143692098 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:30936020C>T ENST00000355537.3 + 2 1698 c.1551C>T c.(1549-1551)ccC>ccT p.P517P NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGATGGACCCCGTGAACAGCT 0.612000 16 37 0 0 0.557998 0 0 COL4A5 1287 broad.mit.edu 37 X 107865998 107865998 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:107865998C>A ENST00000328300.6 + 33 3104 c.2860C>A c.(2860-2862)Cca>Aca p.P954T COL4A5_ENST00000361603.2_Missense_Mutation_p.P954T NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 954 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCCTCCTGGACCAATGGATCC 0.473000 Alport syndrome with Diffuse Leiomyomatosis 23 18 6.32553e-13 8.54578e-13 0.681144 1 0 SVEP1 79987 broad.mit.edu 37 9 113213637 113213637 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:113213637C>G ENST00000401783.2 - 23 4169 c.3833G>C c.(3832-3834)tGt>tCt p.C1278S SVEP1_ENST00000374469.1_Missense_Mutation_p.C1255S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.C1278S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1278 EGF-like 3; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TTTATTTAAACAAGGACTGGA 0.398000 13 24 0 0 0.539581 0 0 SLC13A2 9058 broad.mit.edu 37 17 26817412 26817412 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:26817412G>T ENST00000444914.3 + 3 739 c.319G>T c.(319-321)Ggg>Tgg p.G107W SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Intron NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 66 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CCATAACCTCGGGGGCACCGT 0.547000 75 105 6.8793e-45 1.32004e-44 0.870114 1 0 TBX20 57057 broad.mit.edu 37 7 35289618 35289618 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:35289618G>T ENST00000408931.3 - 2 851 c.325C>A c.(325-327)Ctt>Att p.L109I NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 109 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 TTGTCCCAAAGCTCCTTGGTC 0.582000 16 94 5.03518e-11 6.54141e-11 0.557998 1 0 WDR77 79084 broad.mit.edu 37 1 111985355 111985355 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:111985355C>G ENST00000235090.5 - 8 926 c.720G>C c.(718-720)gtG>gtC p.V240V WDR77_ENST00000411751.2_Silent_p.V176V|WDR77_ENST00000497278.1_5'UTR NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 240 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) TCTTGGTGTCCACAAGGGAGA 0.478000 8 27 0 0 0.361761 0 0 SNRPA1 6627 broad.mit.edu 37 15 101825949 101825949 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:101825949C>A ENST00000254193.6 - 7 669 c.597G>T c.(595-597)ggG>ggT p.G199G NM_003090.2 NP_003081.2 P09661 RU2A_HUMAN small nuclear ribonucleoprotein polypeptide A' 199 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTTCTACATCCCCTGGAGATG 0.428000 30 20 3.21399e-22 5.23574e-22 0.804634 1 0 COL11A1 1301 broad.mit.edu 37 1 103573699 103573699 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:103573699C>A ENST00000358392.2 - 1 353 c.36G>T c.(34-36)cgG>cgT p.R12R COL11A1_ENST00000370096.3_Silent_p.R12R|COL11A1_ENST00000512756.1_Silent_p.R12R|COL11A1_ENST00000353414.4_Silent_p.R12R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 12 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCCAGAGCCACCGTTTCGTTT 0.527000 9 36 1.61879e-10 2.06612e-10 0.411799 1 0 LRRTM2 26045 broad.mit.edu 37 5 138208768 138208768 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:138208768G>A ENST00000274711.6 - 2 1860 c.1482C>T c.(1480-1482)ccC>ccT p.P494P CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Silent_p.P55P|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000518825.1_Intron NM_015564.2 NP_056379.1 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 494 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGATGATGAAGGGTCCTTCAT 0.423000 130 111 0 0 0.870114 0 0 MXRA5 25878 broad.mit.edu 37 X 3229376 3229376 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:3229376G>T ENST00000217939.6 - 7 7022 c.6868C>A c.(6868-6870)Cag>Aag p.Q2290K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2290 Ig-like C2-type 7. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCATCCGACTGCATGAAGGAG 0.572000 10 28 3.07112e-06 3.4687e-06 0.387290 1 0 LY75 4065 broad.mit.edu 37 2 160711433 160711433 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:160711433G>A ENST00000263636.4 - 17 2428 c.2401C>T c.(2401-2403)Cca>Tca p.P801S LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P801S|LY75_ENST00000553424.1_Missense_Mutation_p.P801S|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P801S|LY75_ENST00000554112.1_Missense_Mutation_p.P801S NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TACCAGTCTGGTGTTTTTGGA 0.388000 13 27 0 0 0.500413 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356227 37356227 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:37356227G>T ENST00000217420.1 + 2 786 c.523G>T c.(523-525)Gaa>Taa p.E175* NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 175 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CGAGGAGAATGAAGACGGCGA 0.647000 17 40 3.99206e-14 5.57751e-14 0.557998 1 0 ZNF395 55893 broad.mit.edu 37 8 28209072 28209072 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:28209072C>G ENST00000344423.5 - 7 1304 c.1173G>C c.(1171-1173)ggG>ggC p.G391G ZNF395_ENST00000523095.1_Silent_p.G391G|ZNF395_ENST00000523202.1_Silent_p.G391G NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 391 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.G391G(1) cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TGCTGAGAGCCCCTGAGGGCA 0.627000 37 63 0 0 0.840704 0 0 OR5M10 390167 broad.mit.edu 37 11 56344787 56344787 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:56344787G>C ENST00000526812.2 - 1 476 c.411C>G c.(409-411)tcC>tcG p.S137S NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 AAATGTTCTTGGACATCCTGG 0.458000 49 119 0 0 0.870114 0 0 ARHGAP4 393 broad.mit.edu 37 X 153178971 153178971 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:153178971C>G ENST00000370028.3 - 10 1395 c.1338G>C c.(1336-1338)caG>caC p.Q446H ARHGAP4_ENST00000537206.1_Missense_Mutation_p.Q383H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.Q385H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.Q228H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.Q406H NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 406 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGGGGCTGGTCTGGAAGGAAT 0.647000 64 31 0 0 0.870114 0 0 TLL1 7092 broad.mit.edu 37 4 166929185 166929185 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:166929185G>T ENST00000061240.2 + 7 1549 c.902G>T c.(901-903)aGg>aTg p.R301M TLL1_ENST00000507499.1_Missense_Mutation_p.R301M|TLL1_ENST00000513213.1_Missense_Mutation_p.R301M NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 301 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CACTATGCCAGGAACACCTTC 0.413000 25 47 6.07407e-21 9.67024e-21 0.717897 1 0 RXFP1 59350 broad.mit.edu 37 4 159568169 159568169 + Silent SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:159568169A>C ENST00000307765.5 + 16 1823 c.1572A>C c.(1570-1572)ggA>ggC p.G524G RXFP1_ENST00000470033.1_Silent_p.G491G|RXFP1_ENST00000460056.2_Silent_p.G443G|RXFP1_ENST00000448688.2_Silent_p.G419G|RXFP1_ENST00000343542.5_Silent_p.G476G NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 524 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TGAGACCTGGAAAATGCAGAA 0.343000 8 23 0 0 0.278610 0 0 PTPRH 5794 broad.mit.edu 37 19 55713547 55713547 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:55713547G>T ENST00000376350.3 - 6 1052 c.1030C>A c.(1030-1032)Cga>Aga p.R344R PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.R166R NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 344 Fibronectin type-III 4. 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) GCTGTGCTTCGAGTCCCTGCT 0.577000 23 112 3.28513e-13 4.46896e-13 0.667858 1 0 MME 4311 broad.mit.edu 37 3 154834469 154834469 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:154834469A>T ENST00000460393.1 + 6 576 c.456A>T c.(454-456)agA>agT p.R152S MME_ENST00000493237.1_Missense_Mutation_p.R152S|MME_ENST00000492661.1_Missense_Mutation_p.R152S|MME_ENST00000462745.1_Missense_Mutation_p.R152S|MME_ENST00000360490.2_Missense_Mutation_p.R152S NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 152 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTGATAGCAGAGGTGGAGAAC 0.353000 43 50 0 0 0.870114 0 0 C5AR2 27202 broad.mit.edu 37 19 47844327 47844327 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:47844327G>T ENST00000595464.1 + 2 489 c.271G>T c.(271-273)Gca>Tca p.A91S C5AR2_ENST00000257267.2_Missense_Mutation_p.A91S|C5AR2_ENST00000600626.1_Missense_Mutation_p.A91S NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 GCCCATCCTGGCAGTGCCCAT 0.662000 35 93 6.29468e-14 8.76345e-14 0.804634 1 0 SLIT2 9353 broad.mit.edu 37 4 20525761 20525761 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:20525761A>G ENST00000504154.1 + 14 1651 c.1399A>G c.(1399-1401)Aga>Gga p.R467G SLIT2_ENST00000503823.1_Missense_Mutation_p.R467G|SLIT2_ENST00000503837.1_Missense_Mutation_p.R471G|SLIT2_ENST00000273739.5_Missense_Mutation_p.R471G NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 467 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGCAAACAAAAGAATTGGACA 0.478000 37 108 0 0 0.827153 0 0 CDH22 64405 broad.mit.edu 37 20 44839164 44839164 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:44839164C>A ENST00000372262.3 - 6 1468 c.1068G>T c.(1066-1068)gtG>gtT p.V356V CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.V356V NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 356 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CCTCCAGGATCACGGTGTGCA 0.682000 10 50 7.93312e-07 9.07501e-07 0.457914 1 0 PCDH10 57575 broad.mit.edu 37 4 134072687 134072687 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:134072687C>G ENST00000264360.4 + 1 2218 c.1392C>G c.(1390-1392)agC>agG p.S464R NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 464 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CGCGTTTCAGCCAGCCGGTCT 0.627000 36 87 0 0 0.870114 0 0 CDH11 1009 broad.mit.edu 37 16 65006841 65006841 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:65006841G>T ENST00000394156.3 - 9 1809 c.1356C>A c.(1354-1356)gcC>gcA p.A452A CDH11_ENST00000268603.4_Silent_p.A452A|CDH11_ENST00000566827.1_Silent_p.A326A P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 452 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TGTTGAGCCAGGCTGTTTCCT 0.388000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 36 72 5.48756e-27 9.4492e-27 0.859065 1 0 IGHJ3 28479 broad.mit.edu 37 14 106330819 106330819 + RNA SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:106330819C>T ENST00000463911.1 - 0 26 TGACCATTGTCCCTTGGCCCC 0.567000 4 22 0 0 0.278610 0 0 CCDC148 130940 broad.mit.edu 37 2 159166103 159166103 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:159166103G>A ENST00000283233.5 - 9 1265 c.952C>T c.(952-954)Caa>Taa p.Q318* CCDC148_ENST00000409187.1_Nonsense_Mutation_p.Q327*|CCDC148_ENST00000536771.1_Nonsense_Mutation_p.Q232* NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 318 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGGATATTTTGCTGCTCTATA 0.358000 10 34 0 0 0.411799 0 0 HMHA1 23526 broad.mit.edu 37 19 1080511 1080511 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:1080511A>G ENST00000313093.2 + 15 2108 c.1877A>G c.(1876-1878)gAc>gGc p.D626G HMHA1_ENST00000539243.2_Missense_Mutation_p.D642G|HMHA1_ENST00000536472.1_Missense_Mutation_p.D494G|HMHA1_ENST00000586866.1_Missense_Mutation_p.D630G|HMHA1_ENST00000543365.1_Missense_Mutation_p.D509G|HMHA1_ENST00000590577.1_Missense_Mutation_p.D261G|HMHA1_ENST00000590214.1_Missense_Mutation_p.D653G NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 626 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGATCTCAGACTCGGACAGT 0.667000 13 62 0 0 0.520397 0 0 USH2A 7399 broad.mit.edu 37 1 216420315 216420315 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:216420315G>C ENST00000366943.2 - 13 2807 c.2421C>G c.(2419-2421)gtC>gtG p.V807V USH2A_ENST00000307340.3_Silent_p.V807V|USH2A_ENST00000366942.3_Silent_p.V807V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 807 Laminin EGF-like 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAGCATTACAGACAGTCCCAG 0.463000 HNSCC(13;0.011) 25 56 0 0 0.706142 0 0 SCN7A 6332 broad.mit.edu 37 2 167322303 167322303 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:167322303A>G ENST00000409855.1 - 7 985 c.859T>C c.(859-861)Tat>Cat p.Y287H NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 287 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CGAATATAATATGGGTTTCCA 0.388000 11 73 0 0 0.435327 0 0 PADI4 23569 broad.mit.edu 37 1 17690070 17690070 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:17690070C>A ENST00000375448.4 + 16 1838 c.1812C>A c.(1810-1812)ccC>ccA p.P604P NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 604 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCTTCGGGCCCGTCATCAACG 0.622000 3 16 6.4e-05 6.98497e-05 0.115264 1 0 FAT3 120114 broad.mit.edu 37 11 92088531 92088531 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:92088531G>C ENST00000298047.6 + 1 3270 c.3253G>C c.(3253-3255)Ggc>Cgc p.G1085R FAT3_ENST00000541502.1_Missense_Mutation_p.G1085R|FAT3_ENST00000525166.1_Missense_Mutation_p.G935R|FAT3_ENST00000409404.2_Missense_Mutation_p.G1085R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1085 Cadherin 10. 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) CATCAGGGATGGCAGTGGTCT 0.468000 TCGA Ovarian(4;0.039) 22 59 0 0 0.654019 0 0 C2orf53 339779 broad.mit.edu 37 2 27360547 27360547 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:27360547G>T ENST00000335524.3 - 3 1176 c.651C>A c.(649-651)gtC>gtA p.V217V NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 217 cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCCAGCTGGACCACCAGGG 0.667000 9 39 0.335167 0.336367 0.335167 1 0 DIP2A 23181 broad.mit.edu 37 21 47986499 47986499 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:47986499G>T ENST00000318711.7 + 37 4552 c.4369G>T c.(4369-4371)Ggg>Tgg p.G1457W DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Missense_Mutation_p.G1456W|DIP2A_ENST00000400274.1_Missense_Mutation_p.G1452W NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1456 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GTATGTGGTTGGGTCTCTGGA 0.547000 27 27 1.30897e-18 2.0043e-18 0.740014 1 0 PTCH1 5727 broad.mit.edu 37 9 98229462 98229462 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:98229462G>T ENST00000430669.2 - 15 2883 c.2298C>A c.(2296-2298)gtC>gtA p.V766V PTCH1_ENST00000418258.1_Silent_p.V681V|PTCH1_ENST00000375274.2_Silent_p.V831V|PTCH1_ENST00000437951.1_Silent_p.V766V|PTCH1_ENST00000429896.2_Silent_p.V681V|PTCH1_ENST00000421141.1_Silent_p.V681V|PTCH1_ENST00000331920.6_Silent_p.V832V Q13635 PTC1_HUMAN patched 1 832 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.V832V(2)|p.V831V(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CTTCCAACATGACATACTTCA 0.463000 32 32 5.91797e-21 9.42936e-21 0.760397 1 0 FOXK1 221937 broad.mit.edu 37 7 4800840 4800840 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:4800840G>C ENST00000328914.4 + 8 1842 c.1842G>C c.(1840-1842)caG>caC p.Q614H FOXK1_ENST00000446823.1_Missense_Mutation_p.Q451H NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 614 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CCCTCGGGCAGCACCACCTTC 0.667000 5 51 0 0 0.217242 0 0 GAB4 128954 broad.mit.edu 37 22 17468899 17468899 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:17468899C>A ENST00000400588.1 - 3 744 c.637G>T c.(637-639)Ggg>Tgg p.G213W GAB4_ENST00000523144.1_Intron NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 213 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) CGGAGACACCCCGGAGGTGCA 0.637000 7 10 0.00198382 0.0020714 0.248553 1 0 NOXO1 124056 broad.mit.edu 37 16 2029347 2029347 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:2029347G>T ENST00000354249.4 - 8 1188 c.819C>A c.(817-819)taC>taA p.Y273* NOXO1_ENST00000566005.1_Nonsense_Mutation_p.Y278*|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Nonsense_Mutation_p.Y274*|NOXO1_ENST00000397280.4_Nonsense_Mutation_p.Y279* NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2 NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 279 SH3 2. cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity lung(2) 2 CCCGGTCGCCGTACCTGCGAG 0.766000 10 3 2.80697e-09 3.43736e-09 0.387290 1 0 ARL14EP 120534 broad.mit.edu 37 11 30352892 30352892 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:30352892G>T ENST00000282032.3 + 2 612 c.397G>T c.(397-399)Gac>Tac p.D133Y NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein TGATACTGAAGACCGCCAGAA 0.363000 32 36 2.24893e-16 3.3168e-16 0.847076 1 0 RP1 6101 broad.mit.edu 37 8 55533881 55533881 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:55533881A>C ENST00000220676.1 + 2 503 c.355A>C c.(355-357)Aaa>Caa p.K119Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 119 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) AGACCTGGACAAAGCCCGTCG 0.716000 22 122 0 0 0.654019 0 0 ZNF248 57209 broad.mit.edu 37 10 38121492 38121492 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:38121492T>A ENST00000395867.3 - 6 1341 c.791A>T c.(790-792)cAt>cTt p.H264L ZNF248_ENST00000357328.4_Missense_Mutation_p.H264L|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 CATTTCCAAATGAGGTCTTTG 0.378000 20 37 0 0 0.608945 0 0 CTCFL 140690 broad.mit.edu 37 20 56083789 56083789 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:56083789C>A ENST00000429804.2 - 8 1957 c.1397G>T c.(1396-1398)tGc>tTc p.C466F CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000371196.2_Missense_Mutation_p.C516F|CTCFL_ENST00000422869.2_Missense_Mutation_p.C516F|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.C516F|CTCFL_ENST00000539382.1_Missense_Mutation_p.C311F|CTCFL_ENST00000502686.2_Missense_Mutation_p.C254F|CTCFL_ENST00000433949.2_Missense_Mutation_p.C516F|CTCFL_ENST00000432255.2_Missense_Mutation_p.C372F|CTCFL_ENST00000423479.2_Missense_Mutation_p.C516F NM_001269046.1 NP_001255975.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 516 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) GCAAGAAAGGCAGGTGAATGG 0.448000 17 69 1.00905e-13 1.39001e-13 0.575678 1 0 HOOK3 84376 broad.mit.edu 37 8 42852780 42852780 + Splice_Site SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:42852780T>C ENST00000307602.4 + 16 1820 c.1620_splice c.e16+1 p.D540_splice NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 540 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AAGCAGAAGATGTAAGTTTTA 0.299000 T RET papillary thyroid 9 13 0 0 0.361761 0 0 PKD1L2 114780 broad.mit.edu 37 16 81157276 81157276 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:81157276G>T ENST00000525539.1 - 0 6462 PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGTCTCTAGCGTCAGCGTGAC 0.592000 61 86 2.01788e-20 3.18416e-20 0.870114 1 0 APC2 10297 broad.mit.edu 37 19 1465263 1465263 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:1465263C>A ENST00000535453.1 + 14 3676 c.1963C>A c.(1963-1965)Cgc>Agc p.R655S C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.R381S|APC2_ENST00000233607.2_Missense_Mutation_p.R655S O95996 APC2_HUMAN adenomatosis polyposis coli 2 655 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGTCGGCCCGCAGCGCCCG 0.647000 3 12 0.115264 0.116331 0.115264 1 0 ZNF730 100129543 broad.mit.edu 37 19 23329244 23329244 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:23329244C>T ENST00000597761.2 + 4 1597 c.1398C>T c.(1396-1398)acC>acT p.T466T NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 GGTCCTCAACCCTCACTACAC 0.393000 17 43 0 0 0.592651 0 0 SLC6A17 388662 broad.mit.edu 37 1 110709553 110709553 + Translation_Start_Site SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:110709553T>C ENST00000331565.4 + 2 487 c.2T>C c.(1-3)aTg>aCg p.M1T RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 1 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GTGGCATCAATGCCGAAGAAC 0.577000 13 28 0 0 0.520397 0 0 MXRA5 25878 broad.mit.edu 37 X 3229375 3229375 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:3229375T>C ENST00000217939.6 - 7 7023 c.6869A>G c.(6868-6870)cAg>cGg p.Q2290R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2290 Ig-like C2-type 7. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTCATCCGACTGCATGAAGGA 0.572000 10 29 0 0 0.387290 0 0 TBX2 6909 broad.mit.edu 37 17 59479196 59479196 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:59479196C>A ENST00000240328.3 + 2 828 c.547C>A c.(547-549)Ccc>Acc p.P183T RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 183 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 CCCTGAGATGCCCAAACGCAT 0.572000 45 78 1.05386e-31 1.89791e-31 0.870114 1 0 CEP128 145508 broad.mit.edu 37 14 81259335 81259335 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:81259335C>A ENST00000555265.1 - 14 1704 c.1329G>T c.(1327-1329)caG>caT p.Q443H CEP128_ENST00000281129.3_Missense_Mutation_p.Q443H Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 443 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GCTCTGAGATCTGAAGGTCAG 0.532000 28 70 2.12542e-12 2.83052e-12 0.706142 1 0 LGR5 8549 broad.mit.edu 37 12 71977947 71977947 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:71977947G>A ENST00000266674.5 + 18 2468 c.2157G>A c.(2155-2157)gaG>gaA p.E719E LGR5_ENST00000540815.2_Silent_p.E695E|LGR5_ENST00000536515.1_Silent_p.E647E O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 719 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CTTTTGGGGAGCCCAGCACCA 0.572000 84 34 0 0 0.870114 0 0 PRSS37 136242 broad.mit.edu 37 7 141537799 141537799 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:141537799C>T ENST00000350549.3 - 3 662 c.291G>A c.(289-291)caG>caA p.Q97Q PRSS37_ENST00000438520.1_Silent_p.Q97Q NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 97 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 TGAGGTCATCCTGTGGGGCGC 0.532000 39 251 0 0 0.847076 0 0 BICC1 80114 broad.mit.edu 37 10 60566378 60566378 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:60566378C>T ENST00000373886.3 + 16 2220 c.2216C>T c.(2215-2217)aCc>aTc p.T739I BICC1_ENST00000263103.1_Missense_Mutation_p.T365I NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 739 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 CTATTAGCCACCAAAGGTATG 0.343000 42 45 0 0 0.859065 0 0 CLDN2 9075 broad.mit.edu 37 X 106171707 106171707 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:106171707G>A ENST00000541806.1 + 2 768 c.249G>A c.(247-249)atG>atA p.M83I CLDN2_ENST00000336803.1_Missense_Mutation_p.M83I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M83I NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 83 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 CCCAGGCCATGATGGTGACAT 0.567000 68 28 0 0 0.870114 0 0 POU2AF1 5450 broad.mit.edu 37 11 111228178 111228178 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:111228178T>A ENST00000393067.3 - 4 962 c.448A>T c.(448-450)Aat>Tat p.N150Y NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 150 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) ACCGTGACATTGGTGATGAGT 0.562000 T BCL6 NHL 32 75 0 0 0.840704 0 0 EPHB3 2049 broad.mit.edu 37 3 184295686 184295686 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:184295686G>T ENST00000330394.2 + 8 2092 c.1639_splice c.e8-1 p.G547_splice EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 547 integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CTATCTCCAGGCTCTGGGGCC 0.627000 24 43 9.57634e-11 1.23187e-10 0.654019 1 0 GHR 2690 broad.mit.edu 37 5 42718896 42718896 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:42718896G>T ENST00000230882.4 + 10 1477 c.1287G>T c.(1285-1287)aaG>aaT p.K429N GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.K407N|GHR_ENST00000537449.1_Missense_Mutation_p.K242N NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 429 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTGACCAGAAGAATCAAAATA 0.448000 7 85 1.12685e-05 1.25114e-05 0.307466 1 0 SGPL1 8879 broad.mit.edu 37 10 72630895 72630895 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:72630895G>A ENST00000373202.3 + 10 1101 c.901G>A c.(901-903)Gtg>Atg p.V301M NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 301 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) TGTCCCTGAAGTGGCCAAGGT 0.448000 31 22 0 0 0.779181 0 0 PDE1C 5137 broad.mit.edu 37 7 31887622 31887622 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:31887622C>A ENST00000396184.3 - 10 1144 c.940G>T c.(940-942)Gaa>Taa p.E314* PDE1C_ENST00000321453.7_Nonsense_Mutation_p.E314*|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.E314*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.E314*|PDE1C_ENST00000396193.1_Nonsense_Mutation_p.E374* NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 314 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ATATTCATTTCCTCGTCATCT 0.408000 17 105 2.23348e-06 2.53137e-06 0.500413 1 0 LOC440040 440040 broad.mit.edu 37 11 49598273 49598273 + RNA SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:49598273A>T ENST00000527477.1 + 0 877 ATTCAGGTCCAGAATTTGCTC 0.478000 20 20 0 0 0.654019 0 0 MGMT 4255 broad.mit.edu 37 10 131557534 131557534 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:131557534C>T ENST00000306010.7 + 4 468 c.436C>T c.(436-438)Cag>Tag p.Q146* NM_002412.3 NP_002403.2 B4DEE8 B4DEE8_HUMAN O-6-methylguanine-DNA methyltransferase 146 breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) GATTTCTTACCAGCAATTAGC 0.502000 Direct reversal of damage 55 60 0 0 0.870114 0 0 EML5 161436 broad.mit.edu 37 14 89168855 89168855 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:89168855C>A ENST00000554922.1 - 14 2421 c.2173G>T c.(2173-2175)Ggt>Tgt p.G725C EML5_ENST00000380664.5_Missense_Mutation_p.G725C|EML5_ENST00000352093.5_Missense_Mutation_p.G725C NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 725 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TCATCATGACCCAGATAAAAA 0.398000 11 38 4.7546e-09 5.76841e-09 0.500413 1 0 COL11A1 1301 broad.mit.edu 37 1 103461558 103461558 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:103461558G>T ENST00000358392.2 - 27 2635 c.2318C>A c.(2317-2319)cCc>cAc p.P773H COL11A1_ENST00000370096.3_Missense_Mutation_p.P761H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P645H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P722H NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 761 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TACTCCCCGGGGGCCCGGGTA 0.378000 18 66 1.96292e-10 2.49399e-10 0.592651 1 0 RYR3 6263 broad.mit.edu 37 15 34023798 34023798 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:34023798G>C ENST00000389232.4 + 48 7397 c.7327G>C c.(7327-7329)Gat>Cat p.D2443H RYR3_ENST00000415757.3_Missense_Mutation_p.D2443H NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2443 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTCTCTGATTGATTCCACACT 0.473000 5 62 0 0 0.248553 0 0 ACTA1 58 broad.mit.edu 37 1 229568585 229568585 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:229568585C>T ENST00000366684.3 - 3 274 c.172G>A c.(172-174)Gac>Aac p.D58N ACTA1_ENST00000366683.2_Missense_Mutation_p.D58N NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 58 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) TGAGCCTCGTCGCCCACGTAG 0.597000 14 55 0 0 0.520397 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578756 44578756 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:44578756C>T ENST00000289547.4 - 2 1295 c.1240G>A c.(1240-1242)Gct>Act p.A414T NPC1L1_ENST00000423141.1_Missense_Mutation_p.A414T|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A414T|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A414T NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 414 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CGGTTAGGAGCCGTCAGGATC 0.592000 73 92 0 0 0.870114 0 0 GATA4 2626 broad.mit.edu 37 8 11606487 11606487 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:11606487C>A ENST00000335135.4 + 3 1234 c.676C>A c.(676-678)Ccg>Acg p.P226T GATA4_ENST00000528712.1_Missense_Mutation_p.P20T|GATA4_ENST00000532059.1_Missense_Mutation_p.P227T NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 226 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) TATGTCCACCCCGCTCTGGAG 0.557000 60 75 1.53716e-24 2.5923e-24 0.870114 1 0 TTLL4 9654 broad.mit.edu 37 2 219603604 219603604 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:219603604G>T ENST00000392102.1 + 3 1545 c.1205G>T c.(1204-1206)gGt>gTt p.G402V TTLL4_ENST00000442769.1_Missense_Mutation_p.G402V|TTLL4_ENST00000457313.1_Missense_Mutation_p.G237V|TTLL4_ENST00000258398.4_Missense_Mutation_p.G402V NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 402 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) GTCCTCCCTGGTGCCTCAGAT 0.552000 46 65 2.46787e-29 4.36435e-29 0.870114 1 0 MLXIPL 51085 broad.mit.edu 37 7 73011626 73011626 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:73011626C>T ENST00000313375.3 - 9 1536 c.1489G>A c.(1489-1491)Gcc>Acc p.A497T MLXIPL_ENST00000414749.2_Missense_Mutation_p.A497T|MLXIPL_ENST00000395189.1_Missense_Mutation_p.A404T|MLXIPL_ENST00000354613.1_Missense_Mutation_p.A497T|MLXIPL_ENST00000434326.1_Missense_Mutation_p.A404T|MLXIPL_ENST00000429400.2_Missense_Mutation_p.A497T NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 497 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GGGGATGGGGCGGGGGGCTTG 0.662000 5 21 0 0 0.217242 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113761 117113761 + Silent SNP A A G rs75252447 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:117113761A>G ENST00000310357.3 - 6 2346 c.2325T>C c.(2323-2325)taT>taC p.Y775Y GPRC6A_ENST00000530250.1_Silent_p.Y600Y|GPRC6A_ENST00000368549.3_Silent_p.Y704Y NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 775 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGTAATTCTCATATTTGCCTT 0.408000 16 15 0 0 0.500413 0 0 ABCB5 340273 broad.mit.edu 37 7 20683140 20683140 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:20683140A>G ENST00000404938.2 + 7 1215 c.563A>G c.(562-564)aAc>aGc p.N188S NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 374 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTGTTTCAAAACATGTCTACT 0.408000 46 94 0 0 0.870114 0 0 SYNJ2 8871 broad.mit.edu 37 6 158450044 158450044 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:158450044G>T ENST00000355585.4 + 3 546 c.471G>T c.(469-471)ggG>ggT p.G157G SYNJ2_ENST00000367122.2_Silent_p.G157G|SYNJ2_ENST00000449859.2_Silent_p.G106G|SYNJ2_ENST00000367121.3_Silent_p.G157G NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 157 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTGAATGGGGGAACTCCTTCT 0.617000 26 38 7.11191e-15 1.01458e-14 0.769981 1 0 ROPN1B 152015 broad.mit.edu 37 3 125701152 125701152 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:125701152T>C ENST00000514116.1 + 6 751 c.436T>C c.(436-438)Tca>Cca p.S146P ROPN1B_ENST00000511082.1_Missense_Mutation_p.S54P|ROPN1B_ENST00000251776.4_Missense_Mutation_p.S146P|ROPN1B_ENST00000505382.1_Missense_Mutation_p.S54P Q9BZX4 ROP1B_HUMAN rhophilin associated tail protein 1B 146 acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) TGAGGTCTTATCATGTGACCA 0.428000 59 101 0 0 0.870114 0 0 PCDH8 5100 broad.mit.edu 37 13 53420645 53420645 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:53420645C>A ENST00000377942.3 - 1 2130 c.1927G>T c.(1927-1929)Gag>Tag p.E643* PCDH8_ENST00000338862.4_Nonsense_Mutation_p.E643* NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 643 Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TTGGCTCCCTCGTCTGCATCC 0.706000 11 10 1.5842e-08 1.89621e-08 0.435327 1 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184318 26184318 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:26184318G>T ENST00000356530.3 + 1 361 c.295G>T c.(295-297)Gtg>Ttg p.V99L NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 99 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 CCAGACGGCCGTGCGCCTGCT 0.612000 25 115 7.38237e-10 9.17189e-10 0.706142 1 0 BCAS1 8537 broad.mit.edu 37 20 52645231 52645231 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:52645231C>A ENST00000395961.3 - 4 589 c.423G>T c.(421-423)ccG>ccT p.P141P BCAS1_ENST00000411563.1_Silent_p.P44P|BCAS1_ENST00000371435.2_Silent_p.P141P|BCAS1_ENST00000371440.3_Silent_p.P141P NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 141 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) CAGCTGCCACCGGAAGTGTCC 0.592000 19 58 3.62473e-10 4.55528e-10 0.608945 1 0 EEF2 1938 broad.mit.edu 37 19 3984192 3984192 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:3984192T>A ENST00000309311.6 - 2 248 c.160A>T c.(160-162)Aca>Tca p.T54S EEF2_ENST00000600720.1_5'UTR NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 54 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GTGAAGCGTGTCTCCCCGGCC 0.627000 22 86 0 0 0.639603 0 0 DPP6 1804 broad.mit.edu 37 7 154598805 154598805 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:154598805T>G ENST00000404039.1 + 16 2044 c.1457T>G c.(1456-1458)tTc>tGc p.F486C DPP6_ENST00000377770.3_Missense_Mutation_p.F550C|DPP6_ENST00000427557.1_Missense_Mutation_p.F443C|DPP6_ENST00000332007.3_Missense_Mutation_p.F488C NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 550 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ATGGACTTCTTCCTGCTCAAG 0.602000 69 80 0 0 0.870114 0 0 VIPAS39 63894 broad.mit.edu 37 14 77896091 77896091 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:77896091T>C ENST00000553888.1 - 17 1709 c.1199A>G c.(1198-1200)aAg>aGg p.K400R VIPAS39_ENST00000327028.4_Missense_Mutation_p.K387R|VIPAS39_ENST00000557658.1_Missense_Mutation_p.K400R|VIPAS39_ENST00000556412.1_Missense_Mutation_p.K426R|VIPAS39_ENST00000448935.2_Missense_Mutation_p.K351R|VIPAS39_ENST00000343765.2_Missense_Mutation_p.K400R NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog TGCTCTCTTCTTGGTATAGCC 0.493000 38 222 0 0 0.840704 0 0 PRX 57716 broad.mit.edu 37 19 40901739 40901739 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:40901739C>T ENST00000324001.7 - 7 2790 c.2520G>A c.(2518-2520)gaG>gaA p.E840E PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 840 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACCATCCACCTCTGGCTGCA 0.637000 28 83 0 0 0.779181 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3674160 3674160 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:3674160G>T ENST00000344754.4 - 13 3441 c.3442C>A c.(3442-3444)Cgc>Agc p.R1148S SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1148S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1148 Ig-like C2-type 11. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 ACACCGCAGCGGTAGGAGGTG 0.657000 10 28 0.00829132 0.00854824 0.361761 1 0 COL6A3 1293 broad.mit.edu 37 2 238277618 238277618 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:238277618C>A ENST00000295550.4 - 10 4940 c.4488G>T c.(4486-4488)caG>caT p.Q1496H COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1290H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1296H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q889H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1295H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1290H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1496 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCACCGGGGCCTGGGATCTGT 0.537000 20 21 1.96292e-10 2.49399e-10 0.592651 1 0 SMG1 23049 broad.mit.edu 37 16 18875011 18875011 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:18875011C>G ENST00000446231.2 - 25 4068 c.3656G>C c.(3655-3657)aGc>aCc p.S1219T SMG1_ENST00000389467.3_Missense_Mutation_p.S1219T Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1219 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GAGGGAAGTGCTACTGGTACT 0.383000 18 102 0 0 0.740014 0 0 FREM2 341640 broad.mit.edu 37 13 39451300 39451300 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:39451300A>T ENST00000280481.7 + 21 8807 c.8591A>T c.(8590-8592)tAc>tTc p.Y2864F NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2864 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ACCCAAATGTACCTGCTCTCT 0.433000 94 72 0 0 0.870114 0 0 USP34 9736 broad.mit.edu 37 2 61505560 61505560 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:61505560C>A ENST00000398571.2 - 40 5351 c.5275G>T c.(5275-5277)Gat>Tat p.D1759Y NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GCCAAGGCATCTAAGTCGAGG 0.269000 5 9 0.000602214 0.00063762 0.184627 1 0 SLC7A4 6545 broad.mit.edu 37 22 21384316 21384316 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:21384316C>T ENST00000382932.2 - 3 1374 c.1307G>A c.(1306-1308)aGc>aAc p.S436N SLC7A4_ENST00000403586.1_Missense_Mutation_p.S436N NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 436 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TGAGAAGGAGCTCTGCTGCTT 0.642000 10 12 0 0 0.387290 0 0 SYNGR1 9145 broad.mit.edu 37 22 39770330 39770330 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:39770330A>G ENST00000328933.5 + 2 124 c.109A>G c.(109-111)Ata>Gta p.I37V SYNGR1_ENST00000318801.4_Missense_Mutation_p.I37V|SYNGR1_ENST00000381535.4_Missense_Mutation_p.I38V|SYNGR1_ENST00000406293.3_Missense_Mutation_p.I37V|SYNGR1_ENST00000216155.7_Missense_Mutation_p.I37V NM_004711.4 NP_004702.2 synaptogyrin 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) GCTGTTCTCCATAGTGGTGTT 0.652000 14 36 0 0 0.520397 0 0 NLRP5 126206 broad.mit.edu 37 19 56545007 56545007 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:56545007G>T ENST00000390649.3 + 9 2547 c.2547G>T c.(2545-2547)ctG>ctT p.L849L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 849 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCACCCACCTGAAGGAAGAGG 0.483000 48 140 2.0833e-19 3.22772e-19 0.870114 1 0 DRD3 1814 broad.mit.edu 37 3 113858349 113858349 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:113858349G>T ENST00000383673.2 - 5 1151 c.721C>A c.(721-723)Caa>Aaa p.Q241K DRD3_ENST00000295881.7_Missense_Mutation_p.Q241K|DRD3_ENST00000467632.1_Missense_Mutation_p.Q241K|DRD3_ENST00000460779.1_Missense_Mutation_p.Q241K NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 241 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GTACTTACTTGCTGGGGGAAG 0.512000 61 171 6.30617e-38 1.17671e-37 0.870114 1 0 DGKK 139189 broad.mit.edu 37 X 50136184 50136184 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:50136184C>A ENST00000376025.2 - 0 1620 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AAGTCGAACACTTGAGATGGG 0.443000 12 9 4.75885e-15 6.84368e-15 0.520397 1 0 OR6Q1 219952 broad.mit.edu 37 11 57798776 57798776 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:57798776C>G ENST00000302622.3 + 1 375 c.352C>G c.(352-354)Cta>Gta p.L118V OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) TGAGTGTTTCCTACTGGCTGC 0.517000 43 144 0 0 0.864702 0 0 CDCP2 200008 broad.mit.edu 37 1 54606816 54606816 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:54606816C>A ENST00000371330.1 - 3 1565 c.718G>T c.(718-720)Gac>Tac p.D240Y NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 240 CUB 2. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 ATGTTGAAGTCGGACTTGAAG 0.647000 3 33 0.00909568 0.00932367 0.150653 1 0 NIN 51199 broad.mit.edu 37 14 51288610 51288610 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:51288610C>T ENST00000245441.5 - 3 355 c.165G>A c.(163-165)caG>caA p.Q55Q NIN_ENST00000382043.4_Silent_p.Q55Q|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000382041.3_Silent_p.Q55Q|NIN_ENST00000453196.1_Silent_p.Q55Q|NIN_ENST00000530997.2_Silent_p.Q55Q|NIN_ENST00000389868.3_Silent_p.Q55Q|NIN_ENST00000324330.9_Silent_p.Q55Q NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 55 EF-hand 2. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) AGAGGTTGTCCTGAAGTAATG 0.627000 T PDGFRB MPD 85 399 0 0 0.870114 0 0 LIN7A 8825 broad.mit.edu 37 12 81283038 81283038 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:81283038T>C ENST00000552864.1 - 2 395 c.193A>G c.(193-195)Att>Gtt p.I65V NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 65 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 ACCTCTCGAATAGCTGTACAA 0.353000 48 25 0 0 0.870114 0 0 FMNL1 752 broad.mit.edu 37 17 43320594 43320594 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:43320594C>T ENST00000331495.3 + 17 2456 c.2120C>T c.(2119-2121)gCg>gTg p.A707V FMNL1_ENST00000587489.1_Missense_Mutation_p.A285V|FMNL1_ENST00000328118.3_Missense_Mutation_p.A707V NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 707 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CCCAGCAAGGCGACACTCATT 0.602000 34 77 0 0 0.834066 0 0 COL5A1 1289 broad.mit.edu 37 9 137630605 137630605 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:137630605C>A ENST00000371817.3 + 11 1859 c.1445C>A c.(1444-1446)cCt>cAt p.P482H NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 482 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTTCCCGGACCTCCAGGAACC 0.557000 22 31 9.93527e-08 1.16854e-07 0.769981 1 0 PTH2R 5746 broad.mit.edu 37 2 209309497 209309497 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:209309497C>A ENST00000272847.2 + 7 951 c.738C>A c.(736-738)ttC>ttA p.F246L PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 246 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TTATTTACTTCCTGGCTACAA 0.388000 81 136 1.35424e-50 2.63465e-50 0.870114 1 0 PDE5A 8654 broad.mit.edu 37 4 120528153 120528153 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:120528153C>T ENST00000354960.3 - 2 771 c.452G>A c.(451-453)aGa>aAa p.R151K PDE5A_ENST00000394439.1_Missense_Mutation_p.R99K|PDE5A_ENST00000264805.5_Missense_Mutation_p.R109K NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 151 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TTCCAAGAGTCTTGAGCACTG 0.443000 52 66 0 0 0.870114 0 0 SLIT2 9353 broad.mit.edu 37 4 20570606 20570606 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:20570606C>T ENST00000504154.1 + 29 3319 c.3067C>T c.(3067-3069)Ctt>Ttt p.L1023F SLIT2_ENST00000503823.1_Missense_Mutation_p.L1015F|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1019F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L1027F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1023 EGF-like 3; calcium-binding (Potential). apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTACACATGCCTTTGCCCACC 0.328000 17 52 0 0 0.592651 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166845888 166845888 + Splice_Site SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:166845888C>G ENST00000510118.1 - 17 1838 c.e17+1 RPS6KA2_ENST00000503859.1_Splice_Site|RPS6KA2_ENST00000481261.2_Splice_Site|RPS6KA2_ENST00000405189.3_Splice_Site|RPS6KA2_ENST00000265678.4_Splice_Site Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GGACCACTCACATCCTTGAGG 0.498000 15 10 0 0 0.500413 0 0 COPG2 26958 broad.mit.edu 37 7 130295852 130295852 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:130295852T>A ENST00000445977.2 - 9 798 c.709A>T c.(709-711)Agt>Tgt p.S237C Q9UBF2 COPG2_HUMAN coatomer protein complex, subunit gamma 2 237 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat protein binding|structural molecule activity large_intestine(1) 1 Melanoma(18;0.0435) AGTAAGCGACTGGCAATTCGG 0.373000 69 76 0 0 0.870114 0 0 SH3D21 79729 broad.mit.edu 37 1 36785304 36785304 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:36785304C>T ENST00000453908.2 + 14 1068 c.1040C>T c.(1039-1041)gCc>gTc p.A347V SH3D21_ENST00000426732.2_Missense_Mutation_p.A231V|SH3D21_ENST00000312808.4_5'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.A236V NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 231 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 CCGGTAAAGGCCCCCTCTGTG 0.627000 10 3 0 0 0.361761 0 0 TREX2 11219 broad.mit.edu 37 X 152710801 152710801 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:152710801G>C ENST00000330912.2 - 13 1638 c.88C>G c.(88-90)Ctg>Gtg p.L30V TREX2_ENST00000414588.1_Missense_Mutation_p.L72V|TREX2_ENST00000393862.2_Missense_Mutation_p.L30V|TREX2_ENST00000338525.2_Missense_Mutation_p.L30V|TREX2_ENST00000370231.2_Missense_Mutation_p.L30V|TREX2_ENST00000370232.1_Missense_Mutation_p.L73V|TREX2_ENST00000402951.1_Missense_Mutation_p.L73V|TREX2_ENST00000334497.2_Missense_Mutation_p.L73V Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 73 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AAGAGGGACAGCTCGGCAATC 0.637000 Editing and processing nucleases 5 7 0 0 0.184627 0 0 ZPLD1 131368 broad.mit.edu 37 3 102196304 102196304 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:102196304C>G ENST00000306176.1 + 11 1238 c.1138C>G c.(1138-1140)Ccc>Gcc p.P380A ZPLD1_ENST00000491959.1_Missense_Mutation_p.P364A|ZPLD1_ENST00000466937.1_Missense_Mutation_p.P364A NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 364 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 AAGTATGCCTCCCTTCCAGCT 0.458000 137 229 0 0 0.870114 0 0 UHMK1 127933 broad.mit.edu 37 1 162473555 162473555 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:162473555T>C ENST00000489294.1 + 4 923 c.765T>C c.(763-765)tcT>tcC p.S255S UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Silent_p.S255S|UHMK1_ENST00000545294.1_Silent_p.S181S NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 255 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CAAACAGTTCTGCTATTATTG 0.363000 8 60 0 0 0.307466 0 0 KCNH2 3757 broad.mit.edu 37 7 150656680 150656680 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:150656680G>T ENST00000392968.2 - 1 1284 c.164C>A c.(163-165)cCc>cAc p.P55H KCNH2_ENST00000430723.3_Missense_Mutation_p.P151H|KCNH2_ENST00000262186.5_Missense_Mutation_p.P151H Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 151 PAS. 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) CCAGCTGGTGGGGGGGCCCCG 0.592000 9 69 3.86212e-05 4.2283e-05 0.361761 1 0 JPH4 84502 broad.mit.edu 37 14 24041068 24041068 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:24041068C>T ENST00000397118.3 - 5 2115 c.1213G>A c.(1213-1215)Gca>Aca p.A405T JPH4_ENST00000544177.1_Missense_Mutation_p.A70T|JPH4_ENST00000356300.4_Missense_Mutation_p.A405T NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 405 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) ATTCGAGCTGCCTCCACGGCC 0.637000 40 75 0 0 0.847076 0 0 HS3ST5 222537 broad.mit.edu 37 6 114379341 114379341 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:114379341A>G ENST00000312719.5 - 5 1309 c.121T>C c.(121-123)Tgc>Cgc p.C41R HS3ST5_ENST00000411826.1_Missense_Mutation_p.C41R|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 41 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TCAATGGGGCAAATGGGTTGT 0.517000 5 15 0 0 0.217242 0 0 ABHD12B 145447 broad.mit.edu 37 14 51352378 51352378 + Splice_Site SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:51352378G>A ENST00000337334.2 + 6 547 c.e6+1 ABHD12B_ENST00000554241.1_Splice_Site|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Splice_Site|ABHD12B_ENST00000395752.1_Splice_Site NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) GACTACAGAGGTATGTGTTAA 0.423000 27 82 0 0 0.779181 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119557 17119557 + RNA SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:17119557G>A ENST00000426585.1 + 0 369 TATTCCTTCGGAGTATCGTTC 0.353000 34 59 0 0 0.827153 0 0 PIGG 54872 broad.mit.edu 37 4 501299 501299 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:501299G>C ENST00000453061.2 + 4 782 c.676G>C c.(676-678)Ggg>Cgg p.G226R PIGG_ENST00000504346.1_Missense_Mutation_p.G137R|PIGG_ENST00000509768.1_Missense_Mutation_p.G137R|PIGG_ENST00000310340.5_Missense_Mutation_p.G226R|PIGG_ENST00000503111.1_Missense_Mutation_p.G137R|PIGG_ENST00000296306.7_Missense_Mutation_p.G137R|PIGG_ENST00000536264.1_Missense_Mutation_p.G104R|PIGG_ENST00000383028.4_Intron NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 226 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CCACATTTCAGGGCCCAACAG 0.517000 23 35 0 0 0.681144 0 0 VRTN 55237 broad.mit.edu 37 14 74823805 74823805 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:74823805C>A ENST00000256362.4 + 2 560 c.319C>A c.(319-321)Cgc>Agc p.R107S NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 107 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GCTGCGGGCCCGCACCGTGGT 0.642000 12 21 0.00010058 0.000109022 0.411799 1 0 ASXL1 171023 broad.mit.edu 37 20 31021287 31021287 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:31021287A>G ENST00000375687.4 + 12 1710 c.1286A>G c.(1285-1287)gAg>gGg p.E429G ASXL1_ENST00000306058.5_Missense_Mutation_p.E424G NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 429 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 AAAAAACAGGAGTCAGAACAA 0.542000 """F, N, Mis""" """MDS, CMML""" 46 55 0 0 0.870114 0 0 ANKRD11 29123 broad.mit.edu 37 16 89357093 89357093 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:89357093C>G ENST00000301030.4 - 6 1001 c.541G>C c.(541-543)Gcc>Ccc p.A181P ANKRD11_ENST00000378330.2_Missense_Mutation_p.A181P NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 181 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ATGCGCCGGGCGTCCCCGCGG 0.617000 12 65 0 0 0.520397 0 0 DCDC1 341019 broad.mit.edu 37 11 31349726 31349726 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:31349726T>C ENST00000597505.1 - 1 101 c.102A>G c.(100-102)gaA>gaG p.E34E DCDC1_ENST00000452803.1_Silent_p.E34E P59894 DCDC1_HUMAN doublecortin domain containing 1 34 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CCAAAGTGCCTTCAGGGCTAC 0.373000 6 23 0 0 0.217242 0 0 CALCRL 10203 broad.mit.edu 37 2 188228138 188228138 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:188228138C>A ENST00000409998.1 - 10 1373 c.592G>T c.(592-594)Gtg>Ttg p.V198L AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.V198L|CALCRL_ENST00000410068.1_Missense_Mutation_p.V198L|AC007319.1_ENST00000412276.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 198 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TTGTTGGCCACTGCAGTGAGG 0.433000 17 68 1.28384e-07 1.5001e-07 0.608945 1 0 MCM5 4174 broad.mit.edu 37 22 35812667 35812667 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:35812667G>T ENST00000216122.4 + 12 1604 c.1450G>T c.(1450-1452)Gtc>Ttc p.V484F MCM5_ENST00000382011.5_Missense_Mutation_p.V441F NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 484 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 CCGCTGCTCCGTCCTGGCTGC 0.562000 20 96 8.24728e-16 1.19922e-15 0.681144 1 0 MMRN1 22915 broad.mit.edu 37 4 90872765 90872765 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:90872765C>T ENST00000394980.1 + 8 3447 c.3128C>T c.(3127-3129)tCa>tTa p.S1043L MMRN1_ENST00000394981.1_Missense_Mutation_p.S346L|MMRN1_ENST00000264790.2_Missense_Mutation_p.S1043L|MMRN1_ENST00000508372.1_Missense_Mutation_p.S785L Q13201 MMRN1_HUMAN multimerin 1 1043 EGF-like. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GAGGAGTATTCAAGCTGTAGT 0.423000 4 35 0 0 0.184627 0 0 ATP7A 538 broad.mit.edu 37 X 77245344 77245344 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:77245344G>T ENST00000341514.6 + 4 1381 c.1226G>T c.(1225-1227)cGa>cTa p.R409L ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.R409L NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 409 HMA 4. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 AAATCCATACGAGTCTCCCTT 0.413000 84 41 6.21051e-42 1.17562e-41 0.870114 1 0 TIGIT 201633 broad.mit.edu 37 3 114026868 114026868 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:114026868G>T ENST00000481065.1 + 5 3441 c.826G>T c.(826-828)Ggg>Tgg p.G276W TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000486257.1_Missense_Mutation_p.G209W|TIGIT_ENST00000383671.3_Missense_Mutation_p.G209W Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 209 negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 TGCACCTGCTGGGCTCTGTGG 0.577000 57 118 2.22609e-26 3.81642e-26 0.870114 1 0 OR5D13 390142 broad.mit.edu 37 11 55541066 55541066 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55541066C>G ENST00000361760.1 + 1 153 c.153C>G c.(151-153)atC>atG p.I51M NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TAATAATCATCAGACTCAATT 0.398000 34 163 0 0 0.819951 0 0 CNTF 1270 broad.mit.edu 37 11 58391837 58391837 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:58391837G>T ENST00000361987.4 + 2 525 c.445G>T c.(445-447)Ggt>Tgt p.G149C ZFP91-CNTF_ENST00000389919.4_3'UTR NM_000614.3 NP_000605.1 P26441 CNTF_HUMAN ciliary neurotrophic factor 149 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1) 10 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGTTGGAGATGGTGGTCTCTT 0.478000 64 65 1.39921e-30 2.49695e-30 0.870114 1 0 HIST1H1D 3007 broad.mit.edu 37 6 26235027 26235027 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:26235027G>T ENST00000244534.5 - 1 189 c.135C>A c.(133-135)atC>atA p.I45I NM_005320.2 NP_005311.1 P16402 H13_HUMAN histone cluster 1, H1d 45 H15. nucleosome assembly nucleosome|nucleus DNA binding breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) CTGCCTTGGTGATAAGCTCAG 0.542000 24 105 7.11191e-15 1.01458e-14 0.769981 1 0 COL3A1 1281 broad.mit.edu 37 2 189866262 189866262 + Splice_Site SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:189866262G>A ENST00000304636.3 + 34 2508 c.2337_splice c.e34-1 p.G780_splice COL3A1_ENST00000317840.5_Splice_Site_p.G780_splice NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 780 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTTTTTCCAGGGTGAAGGTGG 0.448000 20 105 0 0 0.624587 0 0 YBX1 4904 broad.mit.edu 37 1 43166675 43166675 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:43166675G>A ENST00000321358.7 + 7 1103 c.964G>A c.(964-966)Ggg>Agg p.G322R NM_004559.3 NP_004550.2 P67809 YBOX1_HUMAN Y box binding protein 1 322 CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2) 16 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGAGCAGGGCGGGGCTGAGTA 0.542000 27 34 0 0 0.706142 0 0 NUP93 9688 broad.mit.edu 37 16 56839444 56839444 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:56839444G>T ENST00000564887.1 + 3 649 c.20G>T c.(19-21)cGg>cTg p.R7L NUP93_ENST00000569595.1_3'UTR|NUP93_ENST00000308159.5_Missense_Mutation_p.R130L|NUP93_ENST00000542526.1_Missense_Mutation_p.R7L|NUP93_ENST00000569842.1_Missense_Mutation_p.R130L NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 130 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GAGTACCATCGGGAGTCAATG 0.473000 12 69 4.96729e-08 5.86337e-08 0.575678 1 0 HBB 3043 broad.mit.edu 37 11 5247899 5247899 + Missense_Mutation SNP C C A rs33916541 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:5247899C>A ENST00000335295.3 - 2 398 c.223G>T c.(223-225)Ggc>Tgc p.G75C NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 75 G -> R (in Aalborg; unstable).|G -> V (in Bushwick; unstable). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity p.G75C(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) TGAGCCAGGCCATCACTAAAG 0.537000 Sickle Cell Trait 39 57 4.32679e-17 6.47864e-17 0.827153 1 0 FLNC 2318 broad.mit.edu 37 7 128478828 128478828 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:128478828G>T ENST00000325888.8 + 8 1643 c.1382G>T c.(1381-1383)cGc>cTc p.R461L FLNC_ENST00000346177.6_Missense_Mutation_p.R461L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 461 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCCATCACCCGCAGTCCCTTC 0.617000 77 63 3.24273e-39 6.09137e-39 0.870114 1 0 KIF21B 23046 broad.mit.edu 37 1 200978549 200978549 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:200978549C>G ENST00000332129.2 - 2 425 c.109G>C c.(109-111)Gag>Cag p.E37Q KIF21B_ENST00000422435.2_Missense_Mutation_p.E37Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.E37Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.E37Q NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 37 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ACCTGGGGCTCTCCCGGGGTA 0.577000 19 71 0 0 0.667858 0 0 CDH22 64405 broad.mit.edu 37 20 44839089 44839089 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:44839089C>A ENST00000372262.3 - 6 1543 c.1143G>T c.(1141-1143)gtG>gtT p.V381V CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.V381V NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 381 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CGGCCACGCGCACGATCGCCT 0.716000 5 16 8.12818e-05 8.83968e-05 0.248553 1 0 MKRN3 7681 broad.mit.edu 37 15 23811275 23811275 + Missense_Mutation SNP C C G rs146391768 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:23811275C>G ENST00000314520.3 + 1 822 c.346C>G c.(346-348)Cgc>Ggc p.R116G MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 116 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGAGAACTGTCGCTATTCGCA 0.597000 26 43 0 0 0.750413 0 0 ZNF226 7769 broad.mit.edu 37 19 44681628 44681628 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:44681628G>T ENST00000590089.1 + 7 2580 c.2213G>T c.(2212-2214)cGg>cTg p.R738L ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.R738L|ZNF226_ENST00000337433.5_Missense_Mutation_p.R738L Q9NYT6 ZN226_HUMAN zinc finger protein 226 738 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GTCTTCAGTCGGTCTTCACAA 0.433000 25 74 8.58068e-18 1.29469e-17 0.717897 1 0 CECR6 27439 broad.mit.edu 37 22 17600988 17600988 + Translation_Start_Site SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:17600988G>A ENST00000399875.1 - 0 161 CECR6_ENST00000331437.3_Missense_Mutation_p.R344C NM_001163079.1 NP_001156551.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) AAGGGCGCGCGTAGCTCGATG 0.662000 5 115 0 0 0.217242 0 0 TMEM18 129787 broad.mit.edu 37 2 669610 669610 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:669610C>A ENST00000281017.3 - 5 486 c.393G>T c.(391-393)aaG>aaT p.K131N TMEM18_ENST00000405941.3_Missense_Mutation_p.K134N|TMEM18_ENST00000355654.2_Missense_Mutation_p.K118N NM_152834.2 NP_690047.2 Q96B42 TMM18_HUMAN transmembrane protein 18 131 cell migration integral to membrane|nuclear membrane endometrium(1)|large_intestine(1)|lung(7)|ovary(1) 10 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) ttttcttttcctttcttctct 0.468000 5 45 0.0215528 0.0219326 0.217242 1 0 OR4Q3 441669 broad.mit.edu 37 14 20215626 20215626 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:20215626C>A ENST00000331723.1 + 1 40 c.40C>A c.(40-42)Ctt>Att p.L14I NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGAATTTGTTCTTCTGGGCCT 0.353000 14 184 2.32078e-09 2.85088e-09 0.479597 1 0 GALNT13 114805 broad.mit.edu 37 2 155102365 155102365 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:155102365G>C ENST00000392825.3 + 7 1294 c.727G>C c.(727-729)Gat>Cat p.D243H GALNT13_ENST00000409237.1_Missense_Mutation_p.D243H NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 243 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GATTAGTGATGATACTTTTGA 0.368000 27 100 0 0 0.769981 0 0 TSPYL6 388951 broad.mit.edu 37 2 54482200 54482200 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:54482200G>T ENST00000317802.7 - 1 1209 c.1089C>A c.(1087-1089)gaC>gaA p.D363E ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 363 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 GAGCAATCCTGTCGGACTCTG 0.537000 12 42 6.72482e-11 8.66765e-11 0.479597 1 0 CTSW 1521 broad.mit.edu 37 11 65650961 65650961 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:65650961T>C ENST00000528419.1 + 9 1090 c.1086T>C c.(1084-1086)taT>taC p.Y362Y CTSW_ENST00000307886.3_Intron P56202 CATW_HUMAN cathepsin W 0 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) CCCGCCCCTATGTCCCCTAAC 0.592000 36 240 0 0 0.834066 0 0 SLX4IP 128710 broad.mit.edu 37 20 10582427 10582427 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:10582427C>T ENST00000334534.5 + 6 545 c.365C>T c.(364-366)gCa>gTa p.A122V NM_001009608.1 NP_001009608.1 SLX4 interacting protein AGTCAGCTTGCATTCAGTCGT 0.323000 12 30 0 0 0.479597 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51914560 51914560 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:51914560G>T ENST00000353836.5 - 10 1823 c.1602C>A c.(1600-1602)ccC>ccA p.P534P SIGLEC10_ENST00000441969.3_Silent_p.P476P|SIGLEC10_ENST00000339313.5_Silent_p.P629P|SIGLEC10_ENST00000525998.1_Silent_p.P444P|SIGLEC10_ENST00000442846.3_Silent_p.P386P|SIGLEC10_ENST00000436984.2_Silent_p.P486P|SIGLEC10_ENST00000439889.2_Silent_p.P571P|SIGLEC10_ENST00000432469.2_Silent_p.P451P|SIGLEC10_ENST00000356298.5_Silent_p.P629P NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 629 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) ATTCTGGGGAGGGAGCACCTG 0.512000 21 82 5.35356e-11 6.93208e-11 0.639603 1 0 MFSD1 64747 broad.mit.edu 37 3 158537524 158537524 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:158537524C>A ENST00000415822.2 + 8 1027 c.886C>A c.(886-888)Caa>Aaa p.Q296K MFSD1_ENST00000392813.4_Missense_Mutation_p.Q257K|MFSD1_ENST00000264266.8_Missense_Mutation_p.Q247K NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 247 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) TCATAAAGAACAAGGAAAAAC 0.368000 17 34 2.94398e-08 3.50245e-08 0.557998 1 0 DCHS1 8642 broad.mit.edu 37 11 6650723 6650723 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:6650723C>A ENST00000299441.3 - 12 5532 c.5121G>T c.(5119-5121)cgG>cgT p.R1707R NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1707 Cadherin 16. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCCAGGGCCCGAAGAGTCG 0.552000 9 9 1.08611e-07 1.27134e-07 0.387290 1 0 LOC349160 349160 broad.mit.edu 37 7 136848996 136848996 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:136848996C>A ENST00000439694.1 - 0 164 AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000599888.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA CCTGGATGATCCAGAACATAA 0.522000 26 43 7.76418e-22 1.25959e-21 0.693898 1 0 PLEKHG4 25894 broad.mit.edu 37 16 67318226 67318226 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:67318226G>T ENST00000360461.5 + 11 4093 c.1558G>T c.(1558-1560)Gag>Tag p.E520* PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.E439*|PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.E520*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.E520* NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 520 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GACTGGCTGGGAGGCGGCTGA 0.667000 11 15 9.31168e-06 1.03857e-05 0.435327 1 0 MYH11 4629 broad.mit.edu 37 16 15831325 15831325 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:15831325G>T ENST00000338282.6 - 25 3380 c.3274C>A c.(3274-3276)Ctg>Atg p.L1092M MYH11_ENST00000576790.1_Missense_Mutation_p.L1092M|MYH11_ENST00000452625.2_Missense_Mutation_p.L1099M|MYH11_ENST00000396324.3_Missense_Mutation_p.L1099M|MYH11_ENST00000300036.5_Missense_Mutation_p.L1092M NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1092 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCCGCCTGCAGCTCCTCCTCC 0.632000 T CBFB AML 19 52 2.39187e-15 3.46257e-15 0.575678 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215589 140215589 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140215589G>T ENST00000525929.1 + 1 1621 c.1621G>T c.(1621-1623)Ggc>Tgc p.G541C PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G541C|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGATGCGGGCGTGCCGCC 0.687000 135 80 4.38736e-65 8.69938e-65 0.870114 1 0 NDST2 8509 broad.mit.edu 37 10 75567302 75567302 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:75567302T>C ENST00000299641.4 - 4 1446 c.476A>G c.(475-477)cAt>cGt p.H159R NDST2_ENST00000309979.6_Missense_Mutation_p.H282R NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 282 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.H282R(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) GGAAAGGCCATGTCCAAAGAG 0.577000 16 18 0 0 0.557998 0 0 BARD1 580 broad.mit.edu 37 2 215646105 215646105 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:215646105T>A ENST00000260947.4 - 4 627 c.493A>T c.(493-495)Acc>Tcc p.T165S BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.T21S NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 165 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GCAGGCTGGGTTTGCACTGAA 0.393000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 40 60 0 0 0.870114 0 0 HEATR5B 54497 broad.mit.edu 37 2 37293036 37293036 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:37293036T>A ENST00000233099.5 - 9 1290 c.1195A>T c.(1195-1197)Aca>Tca p.T399S HEATR5B_ENST00000354531.2_Missense_Mutation_p.T399S NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 399 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TCTCCACTTGTGTCATTCACT 0.428000 17 45 0 0 0.592651 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4055177 4055177 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:4055177G>A ENST00000322357.4 - 2 332 c.54C>T c.(52-54)agC>agT p.S18S ZBTB7A_ENST00000601588.1_Silent_p.S18S NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 18 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) TCAGGATGTCGCTGCTGTGGT 0.706000 7 13 0 0 0.307466 0 0 KLHL4 56062 broad.mit.edu 37 X 86772935 86772935 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:86772935G>C ENST00000373119.4 + 1 184 c.39G>C c.(37-39)caG>caC p.Q13H KLHL4_ENST00000373114.4_Missense_Mutation_p.Q13H NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 13 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 ATGTGAAACAGATCCTAAGGC 0.473000 56 27 0 0 0.870114 0 0 MMRN1 22915 broad.mit.edu 37 4 90874184 90874184 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:90874184T>A ENST00000394980.1 + 9 3621 c.3302T>A c.(3301-3303)gTg>gAg p.V1101E MMRN1_ENST00000394981.1_Missense_Mutation_p.V404E|MMRN1_ENST00000264790.2_Missense_Mutation_p.V1101E|MMRN1_ENST00000508372.1_Missense_Mutation_p.V843E Q13201 MMRN1_HUMAN multimerin 1 1101 C1q. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GCACCCATGGTGGCATTTTTT 0.338000 53 54 0 0 0.870114 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756526 94756526 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:94756526G>T ENST00000554723.1 - 2 943 c.525C>A c.(523-525)ccC>ccA p.P175P SERPINA10_ENST00000261994.4_Silent_p.P135P|SERPINA10_ENST00000393096.1_Silent_p.P135P|SERPINA10_ENST00000554173.1_Silent_p.P135P Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 135 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) CGGGCTTGGTGGGCTTCAGGG 0.602000 12 59 0.00010058 0.000109022 0.411799 1 0 HMHA1 23526 broad.mit.edu 37 19 1080515 1080515 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:1080515G>T ENST00000313093.2 + 15 2112 c.1881G>T c.(1879-1881)tcG>tcT p.S627S HMHA1_ENST00000539243.2_Silent_p.S643S|HMHA1_ENST00000536472.1_Silent_p.S495S|HMHA1_ENST00000586866.1_Silent_p.S631S|HMHA1_ENST00000543365.1_Silent_p.S510S|HMHA1_ENST00000590577.1_Silent_p.S262S|HMHA1_ENST00000590214.1_Silent_p.S654S NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 627 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCAGACTCGGACAGTGGGC 0.662000 13 62 4.75885e-15 6.84368e-15 0.520397 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55065336 55065336 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55065336C>A ENST00000526016.1 - 0 372 NR_038174.2 ATCACTTACCCGGCGTTCCTC 0.478000 11 56 7.03913e-09 8.4876e-09 0.411799 1 0 IRX5 10265 broad.mit.edu 37 16 54966694 54966694 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:54966694G>T ENST00000394636.4 + 2 871 c.534G>T c.(532-534)acG>acT p.T178T IRX5_ENST00000320990.5_Silent_p.T178T|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.T112T P78411 IRX5_HUMAN iroquois homeobox 5 178 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 ATAAAATGACGTGGACGCCGC 0.597000 28 55 7.41945e-09 8.92425e-09 0.693898 1 0 HMGCS1 3157 broad.mit.edu 37 5 43293009 43293009 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:43293009C>A ENST00000325110.6 - 9 1456 c.1250G>T c.(1249-1251)gGt>gTt p.G417V HMGCS1_ENST00000433297.2_Missense_Mutation_p.G417V NM_001098272.2 NP_001091742.1 Q01581 HMCS1_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) 417 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1) 15 TGGTGCCACACCAGTTCTTGA 0.348000 31 73 1.42033e-22 2.3351e-22 0.796494 1 0 GAB1 2549 broad.mit.edu 37 4 144390295 144390295 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:144390295G>T ENST00000262995.4 + 11 2555 c.2128G>T c.(2128-2130)Ggg>Tgg p.G710W GAB1_ENST00000262994.4_Missense_Mutation_p.G680W|GAB1_ENST00000505913.1_Missense_Mutation_p.G577W NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 680 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity p.G710W(1) breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) CTGGACAGATGGGAGACAGTC 0.438000 15 21 3.57192e-18 5.45656e-18 0.539581 1 0 RPL31 6160 broad.mit.edu 37 2 101619266 101619266 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:101619266G>T ENST00000409711.1 + 1 114 c.103G>T c.(103-105)Gga>Tga p.G35* RPL31_ENST00000409650.1_Nonsense_Mutation_p.G35*|RPL31_ENST00000409320.3_Nonsense_Mutation_p.G35*|RPL31_ENST00000409000.1_Nonsense_Mutation_p.G35*|RPL31_ENST00000409038.1_Nonsense_Mutation_p.G35*|RPL31_ENST00000264258.3_Nonsense_Mutation_p.G35*|RPL31_ENST00000409733.1_Nonsense_Mutation_p.G35*|RPL31_ENST00000409028.4_Nonsense_Mutation_p.G35* P62899 RL31_HUMAN ribosomal protein L31 35 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3) 8 GCGCATCCATGGAGTGTGAGT 0.537000 7 35 1.12685e-05 1.25114e-05 0.307466 1 0 BAGE2 85319 broad.mit.edu 37 21 11038912 11038912 + RNA SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:11038912G>A ENST00000470054.1 - 0 1291 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) GTGTTGGGGAGGAAGACACAT 0.423000 18 415 0 0 0.539581 0 0 LGR5 8549 broad.mit.edu 37 12 71978407 71978407 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:71978407A>T ENST00000266674.5 + 18 2928 c.2617A>T c.(2617-2619)Agc>Tgc p.S873C LGR5_ENST00000540815.2_Missense_Mutation_p.S849C|LGR5_ENST00000536515.1_Missense_Mutation_p.S801C O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 873 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 AACCTTTACCAGCTCCAGCAT 0.483000 116 87 0 0 0.870114 0 0 CFAP54 144535 broad.mit.edu 37 12 97043710 97043710 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:97043710G>T ENST00000524981.3 + 2 85 c.85G>T c.(85-87)Gat>Tat p.D29Y Q6ZTY8 CL063_HUMAN 3 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CATAATGAGTGATGAAAATAT 0.318000 25 38 4.74835e-14 6.62946e-14 0.750413 1 0 MOGAT3 346606 broad.mit.edu 37 7 100841914 100841914 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:100841914C>A ENST00000223114.4 - 4 652 c.486G>T c.(484-486)atG>atT p.M162I MOGAT3_ENST00000440203.2_Missense_Mutation_p.M162I|MOGAT3_ENST00000379423.3_Missense_Mutation_p.M162I NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 162 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity p.M162I(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CACCAAAGGACATGATGTAGT 0.627000 14 44 5.3912e-06 6.05431e-06 0.539581 1 0 NCAM1 4684 broad.mit.edu 37 11 113078066 113078066 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:113078066G>T ENST00000316851.7 + 5 682 c.682G>T c.(682-684)Gaa>Taa p.E228* NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Nonsense_Mutation_p.E120*|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.E237* NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 238 Ig-like C2-type 3. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GTGCGATGCCGAAGGCTTCCC 0.537000 30 83 5.8336e-16 8.50138e-16 0.779181 1 0 CPSF6 11052 broad.mit.edu 37 12 69653262 69653262 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:69653262G>T ENST00000435070.2 + 7 1364 c.1254G>T c.(1252-1254)atG>atT p.M418I CPSF6_ENST00000266679.8_Missense_Mutation_p.M455I|CPSF6_ENST00000456847.3_Missense_Mutation_p.M345I|CPSF6_ENST00000551516.1_Intron NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 418 mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) AAGAAATCATGAATAGAAATA 0.353000 81 78 2.68927e-46 5.1959e-46 0.870114 1 0 OR2M2 391194 broad.mit.edu 37 1 248343894 248343894 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248343894T>C ENST00000359682.2 + 1 607 c.607T>C c.(607-609)Tgt>Cgt p.C203R NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTTCATCTGCTGTATAGTAAT 0.428000 60 143 0 0 0.870114 0 0 FADS6 283985 broad.mit.edu 37 17 72888695 72888695 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:72888695G>A ENST00000310226.6 - 2 326 c.312C>T c.(310-312)acC>acT p.T104T NM_178128.3 NP_835229.2 Q8N9I5 FADS6_HUMAN fatty acid desaturase 6 110 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) GTTTGGACTCGGTGAGGGCCC 0.592000 7 26 0 0 0.307466 0 0 XIRP2 129446 broad.mit.edu 37 2 168101644 168101644 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:168101644A>T ENST00000409195.1 + 9 3831 c.3742A>T c.(3742-3744)Att>Ttt p.I1248F XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I1026F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I1248F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1073 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAACCAACCAATTGATAAGAT 0.348000 25 27 0 0 0.639603 0 0 EPYC 1833 broad.mit.edu 37 12 91365617 91365617 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:91365617T>C ENST00000261172.3 - 5 754 c.662A>G c.(661-663)aAt>aGt p.N221S NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 221 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 TCCAAGTCTATTGTTGCTAAT 0.368000 8 44 0 0 0.335167 0 0 VPS13D 55187 broad.mit.edu 37 1 12387804 12387804 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:12387804C>T ENST00000358136.3 + 36 8220 c.8090C>T c.(8089-8091)gCa>gTa p.A2697V VPS13D_ENST00000356315.4_Missense_Mutation_p.A2697V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2697 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGGGCTGTGGCAGCGCCATTG 0.517000 52 62 0 0 0.870114 0 0 CENPF 1063 broad.mit.edu 37 1 214832271 214832271 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:214832271G>T ENST00000366955.3 + 19 9209 c.9041G>T c.(9040-9042)cGc>cTc p.R3014L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 3110 Sufficient for centromere localization.|Sufficient for nuclear localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ACCAGCCCCCGCCTGGCTGCA 0.512000 OREG0014250 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 103 1.74807e-11 2.29376e-11 0.750413 1 0 SCIN 85477 broad.mit.edu 37 7 12680115 12680115 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:12680115C>A ENST00000297029.5 + 11 1655 c.1554C>A c.(1552-1554)aaC>aaA p.N518K SCIN_ENST00000445618.2_Missense_Mutation_p.N271K|SCIN_ENST00000519209.1_Missense_Mutation_p.N271K NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 518 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TCCGGAGAAACCTGGCATCTA 0.448000 8 29 1.12685e-05 1.25114e-05 0.307466 1 0 GPR112 139378 broad.mit.edu 37 X 135428792 135428792 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:135428792C>A ENST00000394143.1 + 6 3218 c.2927C>A c.(2926-2928)aCc>aAc p.T976N GPR112_ENST00000412101.1_Missense_Mutation_p.T771N|GPR112_ENST00000394141.1_Missense_Mutation_p.T771N|GPR112_ENST00000287534.4_Missense_Mutation_p.T913N|GPR112_ENST00000370652.1_Missense_Mutation_p.T976N NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 976 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATATCAGAAACCAGTTTCTCC 0.507000 71 44 6.86016e-32 1.23773e-31 0.870114 1 0 GOLGB1 2804 broad.mit.edu 37 3 121415438 121415438 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:121415438T>C ENST00000393667.3 - 13 4042 c.3932A>G c.(3931-3933)cAg>cGg p.Q1311R GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q1306R NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1306 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GGCCTTAATCTGGGCAACAGA 0.448000 35 44 0 0 0.788014 0 0 ZNF266 10781 broad.mit.edu 37 19 9525062 9525062 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9525062C>A ENST00000592904.1 - 5 2615 c.539G>T c.(538-540)gGa>gTa p.G180V ZNF266_ENST00000588933.1_Missense_Mutation_p.G180V|ZNF266_ENST00000361451.2_Missense_Mutation_p.G180V|ZNF266_ENST00000361151.1_Missense_Mutation_p.G180V|ZNF266_ENST00000592292.1_Missense_Mutation_p.G180V|ZNF266_ENST00000588221.1_Missense_Mutation_p.G180V|ZNF266_ENST00000590306.1_Missense_Mutation_p.G180V Q14584 ZN266_HUMAN zinc finger protein 266 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 GAGACTTTCTCCATTGTGAGT 0.433000 13 39 4.93089e-13 6.68925e-13 0.457914 1 0 CHSY1 22856 broad.mit.edu 37 15 101718987 101718987 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:101718987C>A ENST00000254190.3 - 3 1490 c.1015G>T c.(1015-1017)Gtc>Ttc p.V339F CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 339 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTCATCAGGACAATTTCGCGG 0.532000 34 20 5.71845e-15 8.21164e-15 0.812448 1 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862850 10862850 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:10862850C>A ENST00000559480.1 + 0 146 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TACACCATCACCAGCTACTGT 0.577000 30 46 3.56509e-09 4.35757e-09 0.859065 1 0 CRYGD 1421 broad.mit.edu 37 2 208986600 208986600 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:208986600C>A ENST00000264376.4 - 3 349 c.322G>T c.(322-324)Gac>Tac p.D108Y NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 108 Beta/gamma crystallin 'Greek key' 3. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CAGGAGCAGTCCTCAGTGAAC 0.527000 32 99 9.45814e-24 1.57342e-23 0.804634 1 0 HEATR5B 54497 broad.mit.edu 37 2 37293031 37293031 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:37293031A>T ENST00000233099.5 - 9 1295 c.1200T>A c.(1198-1200)agT>agA p.S400R HEATR5B_ENST00000354531.2_Missense_Mutation_p.S400R NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 400 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TGTTTTCTCCACTTGTGTCAT 0.438000 15 46 0 0 0.557998 0 0 MUC16 94025 broad.mit.edu 37 19 9012843 9012843 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9012843C>A ENST00000397910.4 - 34 38804 c.38601G>T c.(38599-38601)caG>caT p.Q12867H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12869 SEA 6. Missing (in Ref. 3; AAK74120). 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 CCTCCTCGTACTGCAGGTTGG 0.567000 64 194 1.38705e-31 2.49339e-31 0.870114 1 0 TCHHL1 126637 broad.mit.edu 37 1 152058608 152058608 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:152058608G>A ENST00000368806.1 - 3 1614 c.1550C>T c.(1549-1551)aCc>aTc p.T517I NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 517 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATGAGTCTTGGTGACCCTAGT 0.502000 71 90 0 0 0.870114 0 0 FUT10 84750 broad.mit.edu 37 8 33230146 33230146 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:33230146C>A ENST00000327671.5 - 5 2020 c.1389G>T c.(1387-1389)agG>agT p.R463S FUT10_ENST00000518672.1_Missense_Mutation_p.R435S|FUT10_ENST00000524021.1_Missense_Mutation_p.R435S NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 463 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) AGTTTTGATTCCTATCAACCA 0.428000 22 24 6.21321e-17 9.26788e-17 0.639603 1 0 IGHG1 3500 broad.mit.edu 37 14 106208525 106208525 + RNA SNP G G C rs1042248 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:106208525G>C ENST00000390548.2 - 0 374 TTGGGGGGAAGAGGAAGACTG 0.612000 34 76 0 0 0.834066 0 0 ABCF3 55324 broad.mit.edu 37 3 183910685 183910685 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:183910685G>T ENST00000429586.2 + 18 1935 c.e18+1 EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Splice_Site NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AAGTTTCCTGGTGAGTTAGGG 0.582000 13 35 2.32078e-09 2.85088e-09 0.479597 1 0 HBE1 3046 broad.mit.edu 37 11 5291044 5291044 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:5291044C>A ENST00000380237.1 - 3 421 c.77G>T c.(76-78)gGt>gTt p.G26V HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.G26V P02100 HBE_HUMAN hemoglobin, epsilon 1 26 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAGGCTTCACCTCCAGCCTC 0.488000 23 23 2.65835e-16 3.90302e-16 0.717897 1 0 TTC29 83894 broad.mit.edu 37 4 147795999 147795999 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:147795999C>A ENST00000513335.1 - 8 945 c.746G>T c.(745-747)cGc>cTc p.R249L TTC29_ENST00000325106.4_Missense_Mutation_p.R223L|TTC29_ENST00000398886.4_Missense_Mutation_p.R249L Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 223 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) GTTGAGAGAGCGGCCTGTCTC 0.438000 7 34 0.00307968 0.00320032 0.278610 1 0 COL12A1 1303 broad.mit.edu 37 6 75862093 75862093 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:75862093C>A ENST00000322507.8 - 18 3980 c.3671G>T c.(3670-3672)cGt>cTt p.R1224L COL12A1_ENST00000416123.2_Missense_Mutation_p.R1224L|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1224L|COL12A1_ENST00000345356.6_Missense_Mutation_p.R60L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1224 VWFA 3. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTCCACAATACGAGAAATGAA 0.443000 9 34 1.58986e-06 1.80608e-06 0.361761 1 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047094 46047094 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:46047094C>G ENST00000397911.3 + 1 55 c.6C>G c.(4-6)gcC>gcG p.A2A TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 2 keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 CCAGCATGGCCGCGTCCACCA 0.627000 59 113 0 0 0.870114 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21891947 21891947 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:21891947C>A ENST00000319481.3 - 13 1299 c.e13+1 NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTCCTATTTACCTCTAATGAT 0.378000 68 89 5.00163e-47 9.67311e-47 0.870114 1 0 KIF21A 55605 broad.mit.edu 37 12 39735871 39735871 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:39735871C>A ENST00000395670.3 - 13 2187 c.1768G>T c.(1768-1770)Ggt>Tgt p.G590C KIF21A_ENST00000544797.2_Missense_Mutation_p.G577C|KIF21A_ENST00000541463.2_Missense_Mutation_p.G577C|KIF21A_ENST00000361961.3_Missense_Mutation_p.G577C|KIF21A_ENST00000361418.5_Missense_Mutation_p.G590C Q7Z4S6 KI21A_HUMAN kinesin family member 21A 590 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.G577C(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TCCGAAACACCCTTTTCTTCT 0.353000 14 12 5.3912e-06 6.05431e-06 0.539581 1 0 OR6V1 346517 broad.mit.edu 37 7 142750055 142750055 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142750055C>T ENST00000418316.1 + 1 639 c.618C>T c.(616-618)ctC>ctT p.L206L NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) CCTTTGTCCTCAGCTCCTTCC 0.537000 98 278 0 0 0.870114 0 0 IL1F10 84639 broad.mit.edu 37 2 113832388 113832388 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:113832388A>G ENST00000393197.2 + 3 628 c.207A>G c.(205-207)gcA>gcG p.A69A IL1F10_ENST00000341010.2_Silent_p.A69A|IL1F10_ENST00000337569.3_Silent_p.A69A NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 69 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 GCTGCCTGGCATGTGTGGAGA 0.607000 6 26 0 0 0.217242 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559312 129559312 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:129559312T>G ENST00000422113.2 - 9 2734 c.2408A>C c.(2407-2409)aAc>aCc p.N803T TMEM132D_ENST00000389441.4_Missense_Mutation_p.N341T NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 803 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGTGTTGGGGTTAGCATCGTT 0.478000 17 144 0 0 0.624587 0 0 MYO10 4651 broad.mit.edu 37 5 16682002 16682002 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:16682002C>T ENST00000513610.1 - 31 4621 c.4167G>A c.(4165-4167)gaG>gaA p.E1389E MYO10_ENST00000505695.1_Silent_p.E728E|MYO10_ENST00000515803.1_Silent_p.E728E|MYO10_ENST00000274203.9_Silent_p.E746E|MYO10_ENST00000427430.2_Silent_p.E746E NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1389 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 ATTCCTGGCCCTCCACTCTGG 0.572000 42 32 0 0 0.870114 0 0 PKD1L1 168507 broad.mit.edu 37 7 47933488 47933488 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:47933488C>A ENST00000289672.2 - 15 2490 c.2440G>T c.(2440-2442)Ggg>Tgg p.G814W NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 814 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGAGTCGCCCCAGGGTCGTCA 0.582000 12 15 9.31168e-06 1.03857e-05 0.435327 1 0 HOXA3 3200 broad.mit.edu 37 7 27147796 27147796 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:27147796G>T ENST00000396352.4 - 3 1269 c.1070C>A c.(1069-1071)aCc>aAc p.T357N HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.T357N NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 357 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TATGTGTGGGGTCCCATAGCT 0.677000 8 21 0.00307968 0.00320032 0.278610 1 0 TTN 7273 broad.mit.edu 37 2 179588045 179588045 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179588045G>T ENST00000589042.1 - 75 21913 c.21689C>A c.(21688-21690)gCt>gAt p.A7230D TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A5986D|TTN_ENST00000591111.1_Missense_Mutation_p.A6913D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6913 Ig-like 54. 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) CAAAAATGCAGCTGGTTCTAG 0.403000 4 59 1.6384e-10 2.08979e-10 0.248553 1 0 ITM2A 9452 broad.mit.edu 37 X 78616853 78616853 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:78616853G>A ENST00000434584.2 - 4 880 c.544C>T c.(544-546)Cgc>Tgc p.R182C ITM2A_ENST00000373298.2_Missense_Mutation_p.R226C|ITM2A_ENST00000469541.1_5'UTR NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 226 BRICHOS. integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 CGACGAAGGCGGAAGGACTTT 0.428000 51 21 0 0 0.870114 0 0 NRROS 375387 broad.mit.edu 37 3 196388192 196388192 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:196388192C>T ENST00000328557.4 + 3 1881 c.1678C>T c.(1678-1680)Ctg>Ttg p.L560L NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CAGCCTGGCCCTGGAGACCCT 0.567000 40 64 0 0 0.859065 0 0 ITPR3 3710 broad.mit.edu 37 6 33638231 33638231 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:33638231G>T ENST00000374316.5 + 20 3379 c.2319G>T c.(2317-2319)ctG>ctT p.L773L ITPR3_ENST00000605930.1_Silent_p.L773L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 773 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CCTTTGACCTGCGCGCCTCCT 0.622000 75 185 5.72486e-32 1.03385e-31 0.870114 1 0 SOX6 55553 broad.mit.edu 37 11 16119217 16119217 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:16119217G>T ENST00000352083.6 - 8 993 c.916C>A c.(916-918)Cag>Aag p.Q306K SOX6_ENST00000396356.3_Missense_Mutation_p.Q306K|SOX6_ENST00000316399.6_Missense_Mutation_p.Q306K|SOX6_ENST00000528429.1_Missense_Mutation_p.Q306K|SOX6_ENST00000527619.1_Missense_Mutation_p.Q309K|SOX6_ENST00000528252.1_Missense_Mutation_p.Q306K P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 306 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GGAATGAACTGTACGGGGTAG 0.468000 22 35 3.28513e-13 4.46896e-13 0.667858 1 0 BRWD1 54014 broad.mit.edu 37 21 40571250 40571250 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:40571250G>A ENST00000342449.3 - 40 5170 c.5092C>T c.(5092-5094)Caa>Taa p.Q1698* BRWD1_ENST00000333229.2_Nonsense_Mutation_p.Q1698*|BRWD1_ENST00000380800.3_Nonsense_Mutation_p.Q1698* NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1698 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GGTAATAGTTGATTTTCATCT 0.393000 14 51 0 0 0.479597 0 0 MEPE 56955 broad.mit.edu 37 4 88766903 88766903 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:88766903C>T ENST00000497649.2 + 6 1189 c.811C>T c.(811-813)Cat>Tat p.H271Y MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.H295Y|MEPE_ENST00000395102.4_Missense_Mutation_p.H326Y|MEPE_ENST00000540395.1_Missense_Mutation_p.H182Y|MEPE_ENST00000361056.3_Missense_Mutation_p.H295Y|MEPE_ENST00000560249.1_Missense_Mutation_p.H182Y Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 295 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) TGAGAGTACTCATCTTGACAC 0.433000 10 26 0 0 0.435327 0 0 CD1B 910 broad.mit.edu 37 1 158299245 158299245 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:158299245C>A ENST00000368168.3 - 4 908 c.801G>T c.(799-801)ctG>ctT p.L267L NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 267 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) CTGCCACATCCAGGGTTGCTC 0.582000 20 156 1.22574e-08 1.46984e-08 0.624587 1 0 C8B 732 broad.mit.edu 37 1 57399075 57399075 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:57399075C>A ENST00000543257.1 - 11 1895 c.1329G>T c.(1327-1329)gaG>gaT p.E443D C8B_ENST00000371237.4_Missense_Mutation_p.E495D|C8B_ENST00000535057.1_Missense_Mutation_p.E433D NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 495 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 CCTTCTGGAACTCCTCCAGTG 0.527000 29 34 2.46105e-21 3.94371e-21 0.750413 1 0 PXDNL 137902 broad.mit.edu 37 8 52232527 52232527 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:52232527G>T ENST00000356297.4 - 23 4416 c.4316C>A c.(4315-4317)cCt>cAt p.P1439H RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1439 VWFC. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CACCAATTCAGGACTGGGACA 0.507000 31 25 4.62619e-21 7.3771e-21 0.796494 1 0 FAM114A1 92689 broad.mit.edu 37 4 38945156 38945156 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:38945156G>T ENST00000358869.2 + 15 1846 c.1670G>T c.(1669-1671)aGt>aTt p.S557I FAM114A1_ENST00000515037.1_Missense_Mutation_p.S350I NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 557 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 ATCCAGACCAGTTGTTTGAAA 0.502000 44 74 6.18754e-15 8.87228e-15 0.870114 1 0 CDH12 1010 broad.mit.edu 37 5 21817074 21817074 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:21817074C>G ENST00000382254.1 - 9 2068 c.982G>C c.(982-984)Gga>Cga p.G328R CDH12_ENST00000522262.1_Missense_Mutation_p.G288R|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G328R NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 328 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TTGATGACTCCCTCTTGTGTA 0.318000 HNSCC(59;0.17) 138 67 0 0 0.870114 0 0 GHRHR 2692 broad.mit.edu 37 7 31013668 31013668 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:31013668A>T ENST00000409904.3 + 4 732 c.474A>T c.(472-474)gcA>gcT p.A158A GHRHR_ENST00000326139.2_Silent_p.A222A|GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000461424.1_3'UTR Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 222 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) GGCTGTTGGCAGAAGCCGTCT 0.627000 66 117 0 0 0.870114 0 0 FRMPD4 9758 broad.mit.edu 37 X 12157102 12157102 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:12157102C>T ENST00000380682.1 + 1 518 c.12C>T c.(10-12)ttC>ttT p.F4F NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 4 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGGATGTCTTCAGCTTTGTGA 0.632000 6 4 0 0 0.278610 0 0 ELOVL4 6785 broad.mit.edu 37 6 80631426 80631426 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:80631426G>T ENST00000369816.4 - 4 757 c.457C>A c.(457-459)Caa>Aaa p.Q153K NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 153 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) AAAGAAACTTGGTTGTTTTTC 0.398000 9 46 0.0477658 0.048357 0.307466 1 0 HIST1H3D 8351 broad.mit.edu 37 6 26197163 26197163 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:26197163C>G ENST00000377831.5 - 2 769 c.316G>C c.(316-318)Gag>Cag p.E106Q HIST1H3D_ENST00000356476.2_Missense_Mutation_p.E106Q NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 106 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.E106Q(1) NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) TTGGTGTCCTCAAACAGCCCC 0.592000 25 128 0 0 0.706142 0 0 SCN5A 6331 broad.mit.edu 37 3 38603953 38603953 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:38603953G>T ENST00000413689.1 - 22 4109 c.3916C>A c.(3916-3918)Cgt>Agt p.R1306S SCN5A_ENST00000455624.2_Missense_Mutation_p.R1305S|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1252S|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1252S|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1305S|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1252S|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1306S|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1305S|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1306S|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1306S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1306 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGGAGTGCACGCAGCGTCCGC 0.627000 11 9 0.010729 0.0109693 0.387290 1 0 SORCS1 114815 broad.mit.edu 37 10 108338853 108338853 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:108338853G>T ENST00000344440.6 - 26 3527 c.3528C>A c.(3526-3528)ctC>ctA p.L1176L SORCS1_ENST00000263054.6_Intron|SORCS1_ENST00000369698.1_Silent_p.L711L NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1 NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 0 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ATTTACCTATGAGCTGGGATT 0.498000 17 21 3.41278e-10 4.30823e-10 0.520397 1 0 SRGAP2 23380 broad.mit.edu 37 1 206611421 206611421 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:206611421A>G ENST00000414007.1 + 12 1321 c.1321A>G c.(1321-1323)Atc>Gtc p.I441V SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 581 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) CCCCAAGGACATCTTTCATGA 0.537000 3 28 0 0 0.115264 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586645 15586645 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:15586645C>A ENST00000292609.4 - 2 965 c.836G>T c.(835-837)gGg>gTg p.G279V PGLYRP2_ENST00000340880.4_Missense_Mutation_p.G279V Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 279 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 AAGGATGACCCCATCCAGGGC 0.622000 14 35 1.01871e-10 1.30787e-10 0.575678 1 0 PCNT 5116 broad.mit.edu 37 21 47831163 47831163 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:47831163G>A ENST00000359568.5 + 28 5283 c.5176G>A c.(5176-5178)Gag>Aag p.E1726K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1726 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AAATCTGCAAGAGAATCAGAA 0.418000 27 57 0 0 0.717897 0 0 CILP 8483 broad.mit.edu 37 15 65497680 65497680 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:65497680C>G ENST00000261883.4 - 5 715 c.549G>C c.(547-549)tcG>tcC p.S183S NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 183 TSP type-1. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CACTGCACAGCGACACCATCT 0.627000 53 63 0 0 0.870114 0 0 WNT5B 81029 broad.mit.edu 37 12 1748912 1748912 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:1748912C>T ENST00000397196.2 + 4 623 c.391C>T c.(391-393)Cgg>Tgg p.R131W WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Missense_Mutation_p.R131W|WNT5B_ENST00000537031.1_Missense_Mutation_p.R131W NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 131 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CGCCATCAGCCGGGCCTGCCG 0.736000 6 13 0 0 0.248553 0 0 HOXB6 3216 broad.mit.edu 37 17 46675194 46675194 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:46675194C>A ENST00000484302.2 - 2 941 c.319G>T c.(319-321)Gac>Tac p.D107Y HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.D107Y|HOXB-AS3_ENST00000466037.2_RNA P17509 HXB6_HUMAN homeobox B6 107 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 TGCGCGCAGTCCGACTTCCGC 0.662000 7 20 5.4927e-09 6.63927e-09 0.307466 1 0 GLYATL2 219970 broad.mit.edu 37 11 58602171 58602171 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:58602171C>A ENST00000287275.1 - 6 1006 c.616G>T c.(616-618)Ggt>Tgt p.G206C GLYATL2_ENST00000532258.1_Missense_Mutation_p.G206C NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 206 mitochondrion glycine N-acyltransferase activity p.G206C(1) breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) CCCTCTGGACCCAGCACACCA 0.468000 20 58 6.44725e-10 8.05086e-10 0.624587 1 0 CLCA2 9635 broad.mit.edu 37 1 86905997 86905997 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:86905997C>A ENST00000370565.4 + 8 1532 c.1370C>A c.(1369-1371)tCa>tAa p.S457* NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 457 VWFA. cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) GAGGAATTATCACGTCTTACA 0.403000 23 37 6.38683e-12 8.44266e-12 0.729181 1 0 GLRA2 2742 broad.mit.edu 37 X 14592613 14592613 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:14592613G>T ENST00000355020.4 + 3 488 c.e3-1 GLRA2_ENST00000218075.4_Intron|GLRA2_ENST00000443437.2_Intron NM_001118886.1 NP_001112358.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCAACTTGCAGGGCCTCCTGT 0.423000 22 32 2.79863e-10 3.54433e-10 0.681144 1 0 FAM78A 286336 broad.mit.edu 37 9 134151420 134151420 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:134151420G>A ENST00000372271.3 - 1 514 c.147C>T c.(145-147)ccC>ccT p.P49P NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 49 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) TAGTGGGGACGGGGTCGATGG 0.617000 16 39 0 0 0.520397 0 0 OR2B11 127623 broad.mit.edu 37 1 247615142 247615142 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:247615142G>T ENST00000318749.6 - 1 166 c.143C>A c.(142-144)gCc>gAc p.A48D NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CAGGATGATGGCGACGTTCCC 0.582000 20 88 4.26978e-12 5.64796e-12 0.654019 1 0 KMT2C 58508 broad.mit.edu 37 7 151945170 151945170 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:151945170G>A ENST00000355193.2 - 14 2567 c.2349C>T c.(2347-2349)tcC>tcT p.S783S KMT2C_ENST00000262189.6_Silent_p.S783S lysine (K)-specific methyltransferase 2C p.S783S(2) GTGTTGGGGAGGAAGACACAT 0.423000 11 448 0 0 0.479597 0 0 ADCY4 196883 broad.mit.edu 37 14 24798267 24798267 + Splice_Site SNP C C A rs78654006 byFrequency TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:24798267C>A ENST00000310677.4 - 11 1637 c.1524_splice c.e11+1 p.P508_splice ADCY4_ENST00000396747.3_Splice_Site_p.P201_splice|ADCY4_ENST00000418030.2_Splice_Site_p.P508_splice|ADCY4_ENST00000554068.2_Splice_Site_p.P508_splice NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 508 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GTGCACATACCGGGAGAGGGG 0.627000 18 104 1.55469e-16 2.30678e-16 0.654019 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254151 39254151 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:39254151G>T ENST00000333822.4 - 1 242 c.186C>A c.(184-186)ccC>ccA p.P62P NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 62 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 GACAGCAGGTGGGCTGGCAGC 0.657000 6 137 2.4624e-09 3.02105e-09 0.575678 1 0 COL11A2 1302 broad.mit.edu 37 6 33132108 33132108 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:33132108G>T ENST00000341947.2 - 65 5233 c.5006C>A c.(5005-5007)gCc>gAc p.A1669D COL11A2_ENST00000361917.1_Missense_Mutation_p.A1562D|COL11A2_ENST00000374708.4_Missense_Mutation_p.A1583D|COL11A2_ENST00000395197.1_Missense_Mutation_p.A1609D|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1648D|COL11A2_ENST00000374713.1_Missense_Mutation_p.A1622D|COL11A2_ENST00000374714.1_Missense_Mutation_p.A1643D|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.A1588D NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1669 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ATCCTCATTGGCCCCACGGAG 0.622000 30 40 8.73648e-17 1.30021e-16 0.796494 1 0 OPCML 4978 broad.mit.edu 37 11 132812881 132812881 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:132812881G>T ENST00000331898.7 - 1 685 c.107C>A c.(106-108)gCc>gAc p.A36D OPCML_ENST00000541867.1_Missense_Mutation_p.A36D|OPCML_ENST00000374778.4_5'UTR|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000524381.1_Missense_Mutation_p.A29D NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 36 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GGGGAAGGTGGCATCTCCGCT 0.657000 25 54 1.57351e-24 2.64906e-24 0.788014 1 0 OLFM3 118427 broad.mit.edu 37 1 102270155 102270155 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:102270155A>G ENST00000370103.4 - 6 1229 c.1016T>C c.(1015-1017)gTg>gCg p.V339A OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.V359A|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 359 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGTTGCATACACAGCCCACAG 0.483000 11 61 0 0 0.387290 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113601675 113601675 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:113601675A>G ENST00000358160.4 + 6 1028 c.536A>G c.(535-537)gAt>gGt p.D179G GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 179 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 GTATTATTAGATAAGGTAAGT 0.338000 39 56 0 0 0.870114 0 0 FOCAD 54914 broad.mit.edu 37 9 20866998 20866998 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:20866998A>G ENST00000380249.1 + 20 2541 c.2177A>G c.(2176-2178)cAt>cGt p.H726R FOCAD_ENST00000338382.6_Missense_Mutation_p.H726R|FOCAD_ENST00000605086.1_Missense_Mutation_p.H162R NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 726 integral to membrane binding ACCATTCTTCATCTGCCTGAA 0.373000 17 121 0 0 0.557998 0 0 RTTN 25914 broad.mit.edu 37 18 67802464 67802464 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:67802464T>C ENST00000255674.6 - 22 3127 c.2841A>G c.(2839-2841)ctA>ctG p.L947L RTTN_ENST00000437017.1_Silent_p.L947L|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 947 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GAAGACAAAATAGTGCTCCAA 0.294000 32 26 0 0 0.859065 0 0 DNM3 26052 broad.mit.edu 37 1 172348233 172348233 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:172348233C>T ENST00000358155.4 + 18 2145 c.1969C>T c.(1969-1971)Cgc>Tgc p.R657C DNM3_ENST00000367731.1_Missense_Mutation_p.R653C|DNM3_ENST00000355305.5_Missense_Mutation_p.R663C NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 663 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GGAGACCATTCGCAACCTCGT 0.383000 7 19 0 0 0.278610 0 0 PDGFRB 5159 broad.mit.edu 37 5 149502662 149502662 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:149502662C>A ENST00000261799.4 - 15 2595 c.2126G>T c.(2125-2127)cGc>cTc p.R709L NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 709 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCTGGGCGGGCGGCGCTTGTC 0.612000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 68 41 1.07363e-35 1.98263e-35 0.870114 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68252722 68252722 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:68252722C>G ENST00000347230.4 - 18 3295 c.3157G>C c.(3157-3159)Gga>Cga p.G1053R ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G1053R NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1053 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GGGCCTCCTCCCTTTTCTTCC 0.498000 30 39 0 0 0.740014 0 0 ZNF827 152485 broad.mit.edu 37 4 146807096 146807096 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:146807096C>A ENST00000508784.1 - 4 1708 c.1481G>T c.(1480-1482)gGg>gTg p.G494V ZNF827_ENST00000513320.1_Missense_Mutation_p.G144V|ZNF827_ENST00000379448.4_Missense_Mutation_p.G494V Q17R98 ZN827_HUMAN zinc finger protein 827 494 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TAGCTCTGTCCCTCCTCCTTC 0.592000 20 91 2.24059e-21 3.59337e-21 0.706142 1 0 LY6G6D 58530 broad.mit.edu 37 6 31677949 31677949 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:31677949C>A ENST00000503322.1 + 4 796 c.793C>A c.(793-795)Cca>Aca p.P265T XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Missense_Mutation_p.P265T|LY6G6F_ENST00000556581.1_Missense_Mutation_p.P265T CCGTGGGGCTCCAGGCAGAGG 0.637000 14 73 3.32936e-07 3.85805e-07 0.539581 1 0 KCNG1 3755 broad.mit.edu 37 20 49626312 49626312 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:49626312C>T ENST00000371571.4 - 2 849 c.564G>A c.(562-564)gcG>gcA p.A188A RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.A188A NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 188 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CGCTGTCCAGCGCGTCGTCCT 0.711000 8 36 0 0 0.361761 0 0 BTN2A2 10385 broad.mit.edu 37 6 26385531 26385531 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:26385531G>T ENST00000356709.4 + 3 494 c.383G>T c.(382-384)cGc>cTc p.R128L BTN2A2_ENST00000469230.1_Missense_Mutation_p.R128L|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R128L|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R128L|BTN2A2_ENST00000352867.2_Intron NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 128 Ig-like V-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 GGGATCTACCGCTGTTACTTC 0.517000 16 78 2.35188e-11 3.084e-11 0.539581 1 0 HTR1E 3354 broad.mit.edu 37 6 87725312 87725312 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:87725312G>C ENST00000305344.4 + 2 963 c.260G>C c.(259-261)cGc>cCc p.R87P HTR1E_ENST00000369584.1_Missense_Mutation_p.R87P NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 87 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.R87H(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GTCATGGATCGCTGGAAGCTT 0.572000 71 72 0 0 0.870114 0 0 C11orf40 143501 broad.mit.edu 37 11 4594592 4594592 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:4594592C>A ENST00000307616.1 - 2 251 c.252G>T c.(250-252)atG>atT p.M84I NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 84 large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CGTTATCACCCATCACCACAC 0.448000 34 33 1.60099e-16 2.37187e-16 0.804634 1 0 TSLP 85480 broad.mit.edu 37 5 110407676 110407676 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:110407676G>C ENST00000420978.2 + 2 1510 c.88G>C c.(88-90)Gac>Cac p.D30H TSLP_ENST00000344895.3_Missense_Mutation_p.D30H Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 30 extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) GTTAACTTACGACTTCACTAA 0.383000 49 41 0 0 0.870114 0 0 ZFP64 55734 broad.mit.edu 37 20 50769916 50769916 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:50769916G>T ENST00000216923.4 - 6 1164 c.815C>A c.(814-816)tCg>tAg p.S272* ZFP64_ENST00000371515.4_Nonsense_Mutation_p.S270*|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Nonsense_Mutation_p.S218*|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TTTCAAGTCCGAGCTGATTTT 0.552000 21 38 1.42536e-11 1.87406e-11 0.681144 1 0 IRX1 79192 broad.mit.edu 37 5 3599371 3599371 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:3599371G>A ENST00000302006.3 + 2 361 c.309G>A c.(307-309)ggG>ggA p.G103G CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 103 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 ACAACCCTGGGGTGCACCCCG 0.637000 10 48 0 0 0.435327 0 0 MFRP 83552 broad.mit.edu 37 11 119216289 119216289 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:119216289G>T ENST00000555262.1 - 5 641 c.482C>A c.(481-483)cCa>cAa p.P161Q MFRP_ENST00000360167.4_Missense_Mutation_p.P161Q|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.P161Q|MFRP_ENST00000530681.1_Missense_Mutation_p.P161Q NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) GTAAGGGTCTGGGTAGTTAGG 0.567000 18 46 5.35267e-07 6.17712e-07 0.557998 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801901 185801901 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:185801901G>A ENST00000302277.6 + 4 2372 c.1778G>A c.(1777-1779)aGt>aAt p.S593N NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 593 intracellular zinc ion binding p.S593fs*29(2) 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 TTCCATAAAAGTAGAAGAAAG 0.308000 14 22 0 0 0.539581 0 0 CACNB2 783 broad.mit.edu 37 10 18828186 18828186 + Missense_Mutation SNP C C T rs111250176 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:18828186C>T ENST00000396576.2 + 13 1852 c.1351C>T c.(1351-1353)Cgc>Tgc p.R451C CACNB2_ENST00000377315.4_Missense_Mutation_p.R458C|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.R482C|CACNB2_ENST00000377328.1_Missense_Mutation_p.R256C|CACNB2_ENST00000282343.8_Missense_Mutation_p.R478C|CACNB2_ENST00000377331.2_Missense_Mutation_p.R454C|CACNB2_ENST00000377329.4_Missense_Mutation_p.R452C|CACNB2_ENST00000377319.3_Missense_Mutation_p.R413C|CACNB2_ENST00000324631.7_Missense_Mutation_p.R506C NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 506 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAGGACTGATCGCTCCGCTCC 0.537000 19 70 0 0 0.624587 0 0 MYO3B 140469 broad.mit.edu 37 2 171092630 171092630 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:171092630C>G ENST00000334231.6 + 7 760 c.760C>G c.(760-762)Ctc>Gtc p.L254V MYO3B_ENST00000409044.3_Missense_Mutation_p.L245V|MYO3B_ENST00000408978.4_Missense_Mutation_p.L245V|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 245 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGTGAAAACACTCTTTAAGAT 0.458000 OREG0014376 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 83 0 0 0.624587 0 0 MAGI2 9863 broad.mit.edu 37 7 79082588 79082588 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:79082588C>A ENST00000354212.4 - 1 302 c.49G>T c.(49-51)Gag>Tag p.E17* MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000419488.1_Nonsense_Mutation_p.E17*|MAGI2_ENST00000522391.1_Nonsense_Mutation_p.E17*|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 17 PDZ 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATGACACTCTCATGGACTTTG 0.597000 70 172 4.47563e-24 7.47717e-24 0.870114 1 0 AGPAT4 56895 broad.mit.edu 37 6 161587281 161587281 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:161587281C>A ENST00000366905.3 - 3 530 c.347G>T c.(346-348)gGg>gTg p.G116V AGPAT4_ENST00000366906.5_Splice_Site_p.G54_splice|AGPAT4_ENST00000366908.5_Splice_Site_p.G116_splice|AGPAT4_ENST00000320285.4_Splice_Site_p.G116_splice|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Intron Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 116 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CTGACTTACCCCTAACAGCCC 0.488000 11 9 2.27111e-07 2.64111e-07 0.411799 1 0 G2E3 55632 broad.mit.edu 37 14 31081465 31081465 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:31081465A>G ENST00000206595.6 + 13 1707 c.1553A>G c.(1552-1554)tAt>tGt p.Y518C G2E3_ENST00000438909.2_Missense_Mutation_p.Y472C|G2E3_ENST00000553504.1_Missense_Mutation_p.Y548C NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 518 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 AATGAATGCTATAACTACCTT 0.308000 67 104 0 0 0.870114 0 0 MUC16 94025 broad.mit.edu 37 19 9087343 9087343 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9087343G>T ENST00000397910.4 - 1 4675 c.4472C>A c.(4471-4473)cCt>cAt p.P1491H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1491 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGGACATAGGTGGAAAAAT 0.428000 37 122 2.9001e-28 5.08295e-28 0.870114 1 0 TTN 7273 broad.mit.edu 37 2 179444913 179444913 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179444913G>A ENST00000589042.1 - 318 67325 c.67101C>T c.(67099-67101)tcC>tcT p.S22367S TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.S13427S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.S13302S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.S13494S|TTN_ENST00000342992.6_Silent_p.S19799S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.S20726S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20726 Fibronectin type-III 62. 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) CAGAGTCTTTGGATATTTCCT 0.388000 11 19 0 0 0.411799 0 0 SEZ6L 23544 broad.mit.edu 37 22 26692999 26692999 + Missense_Mutation SNP G G T rs148526431 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:26692999G>T ENST00000529632.2 + 4 1311 c.1115G>T c.(1114-1116)cGg>cTg p.R372L SEZ6L_ENST00000402979.1_Missense_Mutation_p.R145L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R372L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R372L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R372L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R372L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R145L NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 372 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GTCTACTTCCGGACCTTCCAG 0.607000 17 35 8.10497e-08 9.53841e-08 0.592651 1 0 GABRA3 2556 broad.mit.edu 37 X 151366109 151366109 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:151366109G>C ENST00000370314.4 - 8 1165 c.927C>G c.(925-927)gtC>gtG p.V309V GABRA3_ENST00000370311.1_Silent_p.V309V|GABRA3_ENST00000535043.1_Silent_p.V309V NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 309 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTCACCAAAGACTGTACGGG 0.478000 32 17 0 0 0.804634 0 0 PIK3R5 23533 broad.mit.edu 37 17 8793405 8793405 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:8793405C>A ENST00000447110.1 - 8 820 c.696G>T c.(694-696)gaG>gaT p.E232D PIK3R5_ENST00000581552.1_Missense_Mutation_p.E232D|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E232D NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 232 AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CCTCTGCGGTCTCCGTGAAGA 0.627000 43 25 4.33383e-22 7.04831e-22 0.870114 1 0 ANKEF1 63926 broad.mit.edu 37 20 10030080 10030080 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:10030080G>T ENST00000378380.3 + 6 1192 c.863G>T c.(862-864)aGg>aTg p.R288M SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R288M NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 AAAACGCCCAGGGCTGTGGCT 0.438000 18 89 3.51602e-12 4.66978e-12 0.575678 1 0 SRP54 6729 broad.mit.edu 37 14 35470161 35470161 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:35470161G>T ENST00000556994.1 + 5 587 c.190G>T c.(190-192)Gag>Tag p.E64* SRP54_ENST00000555557.1_5'UTR|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000216774.6_Nonsense_Mutation_p.E64*|SRP54_ENST00000546080.1_Nonsense_Mutation_p.E15* P61011 SRP54_HUMAN signal recognition particle 54kDa 64 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) TGATCTTGAAGAGATGGCATC 0.363000 18 20 4.87955e-14 6.80296e-14 0.693898 1 0 RSBN1 54665 broad.mit.edu 37 1 114354919 114354919 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:114354919C>G ENST00000261441.5 - 1 179 c.116G>C c.(115-117)gGg>gCg p.G39A NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 39 GP -> SG (in Ref. 3; AAH26155). nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTAAATGGCCCGACCGCCCC 0.687000 23 60 0 0 0.693898 0 0 ATP7A 538 broad.mit.edu 37 X 77301868 77301868 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:77301868G>A ENST00000341514.6 + 23 4459 c.4304G>A c.(4303-4305)aGc>aAc p.S1435N ATP7A_ENST00000350425.4_Missense_Mutation_p.S438N|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1357N NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1435 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TCAGAAATCAGCGTTCATGTT 0.433000 119 66 0 0 0.870114 0 0 ADAM33 80332 broad.mit.edu 37 20 3653227 3653227 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:3653227G>T ENST00000356518.2 - 13 1599 c.1358C>A c.(1357-1359)cCg>cAg p.P453Q ADAM33_ENST00000379861.4_Missense_Mutation_p.P453Q|ADAM33_ENST00000350009.2_Missense_Mutation_p.P453Q|ADAM33_ENST00000466620.1_5'UTR NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 453 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 CTGGGCCCCCGGGCGCAGCGA 0.687000 18 34 1.96895e-08 2.34814e-08 0.639603 1 0 AACSP1 729522 broad.mit.edu 37 5 178194197 178194197 + RNA SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:178194197A>T ENST00000503486.2 - 0 1440 NR_024035.1 AGCCAGTCCGACTCAGAAGCC 0.592000 4 11 0 0 0.150653 0 0 LRP1B 53353 broad.mit.edu 37 2 141243076 141243076 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:141243076C>T ENST00000389484.3 - 59 10232 c.9261G>A c.(9259-9261)gcG>gcA p.A3087A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3087 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.A3087A(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATTGGGGACCGCTGTGTTAT 0.368000 TSP Lung(27;0.18) 15 16 0 0 0.479597 0 0 DOCK4 9732 broad.mit.edu 37 7 111580204 111580204 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:111580204G>C ENST00000428084.1 - 11 1210 c.938C>G c.(937-939)aCa>aGa p.T313R DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.T313R Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 313 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TGTCTCTCCTGTTAGCAGGTC 0.493000 57 73 0 0 0.870114 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359360 64359360 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:64359360C>A ENST00000377574.1 + 1 1079 c.332C>A c.(331-333)gCc>gAc p.A111D SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.A111D|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A111D|SLC22A12_ENST00000377572.1_Missense_Mutation_p.A111D NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 111 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TGGAGCGAGGCCGACACGGAG 0.682000 21 36 9.95505e-16 1.44647e-15 0.624587 1 0 PLOD2 5352 broad.mit.edu 37 3 145841974 145841974 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:145841974C>T ENST00000282903.5 - 2 329 c.152G>A c.(151-153)gGa>gAa p.G51E PLOD2_ENST00000494950.1_5'UTR|PLOD2_ENST00000360060.3_Missense_Mutation_p.G51E NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 51 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TCGATGGAATCCATCACTTTC 0.318000 30 59 0 0 0.812448 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45198019 45198019 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:45198019G>A ENST00000352766.7 + 9 904 c.904G>A c.(904-906)Gag>Aag p.E302K PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.E179K|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.E48K|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.E170K|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.E48K|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.E302K|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.E48K p.E84K(1)|p.E48K(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 ACCCTCCCACGAGCTGGACCA 0.602000 32 80 0 0 0.796494 0 0 CSMD3 114788 broad.mit.edu 37 8 113318349 113318349 + Missense_Mutation SNP C C G rs143305992 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:113318349C>G ENST00000297405.5 - 51 8202 c.7958G>C c.(7957-7959)cGa>cCa p.R2653P CSMD3_ENST00000343508.3_Missense_Mutation_p.R2613P|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2583P|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2549P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2653 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATAGGTAACTCGCGTTCCTAC 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 121 0 0 0.592651 0 0 CPN2 1370 broad.mit.edu 37 3 194063172 194063172 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:194063172T>A ENST00000323830.3 - 2 349 c.260A>T c.(259-261)cAg>cTg p.Q87L CPN2_ENST00000429275.1_Missense_Mutation_p.Q87L NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 87 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CGGCCTAAACTGGCAGAGCTG 0.547000 42 63 0 0 0.870114 0 0 CHIC2 26511 broad.mit.edu 37 4 54880043 54880043 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:54880043C>A ENST00000263921.3 - 5 797 c.408G>T c.(406-408)ctG>ctT p.L136L FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Silent_p.L117L NM_012110.3 NP_036242.1 Q9UKJ5 CHIC2_HUMAN cysteine-rich hydrophobic domain 2 136 plasma membrane protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08) LUSC - Lung squamous cell carcinoma(32;0.00216) TCCTTTTGCTCAGTCTCCAAT 0.348000 T ETV6 AML 12 65 1.61879e-10 2.06612e-10 0.411799 1 0 RRP9 9136 broad.mit.edu 37 3 51971706 51971706 + Silent SNP C C A rs138383214 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:51971706C>A ENST00000232888.6 - 4 400 c.327G>T c.(325-327)gcG>gcT p.A109A NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 109 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) TCAGGCGCCCCGCCACCTGGT 0.597000 117 83 6.69235e-45 1.28543e-44 0.870114 1 0 PARP9 83666 broad.mit.edu 37 3 122269540 122269540 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:122269540G>C ENST00000462315.1 - 6 1510 c.1217C>G c.(1216-1218)aCa>aGa p.T406R PARP9_ENST00000471785.1_Missense_Mutation_p.T406R|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Missense_Mutation_p.T441R|PARP9_ENST00000477522.2_Missense_Mutation_p.T406R NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 441 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CTCTGCTGCTGTTTCCTTCTT 0.363000 9 44 0 0 0.335167 0 0 ERI3 79033 broad.mit.edu 37 1 44804790 44804790 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:44804790G>A ENST00000372257.2 - 3 597 c.416C>T c.(415-417)cCt>cTt p.P139L ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron NM_024066.1 NP_076971.1 O43414 ERI3_HUMAN ERI1 exoribonuclease family member 3 139 intracellular exonuclease activity|metal ion binding|nucleic acid binding endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCTCTGGGGAGGGAAGGACAC 0.517000 41 175 0 0 0.840704 0 0 CCDC134 79879 broad.mit.edu 37 22 42209753 42209753 + Splice_Site SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:42209753A>T ENST00000255784.5 + 6 596 c.e6-1 CCDC134_ENST00000402061.3_Intron NM_024821.2 NP_079097.1 Q9H6E4 CC134_HUMAN coiled-coil domain containing 134 extracellular region large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 CTTCATCTGCAGATGGCCCAG 0.537000 14 45 0 0 0.520397 0 0 ALK 238 broad.mit.edu 37 2 29451788 29451788 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:29451788C>T ENST00000389048.3 - 16 3683 c.2777G>A c.(2776-2778)gGg>gAg p.G926E ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 926 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGAGCACCCCCCTCCACCCCC 0.587000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 34 53 0 0 0.840704 0 0 PRKCG 5582 broad.mit.edu 37 19 54403552 54403552 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:54403552G>C ENST00000263431.3 + 12 1629 c.1347G>C c.(1345-1347)ctG>ctC p.L449L PRKCG_ENST00000540413.1_Silent_p.L449L|PRKCG_ENST00000542049.1_Silent_p.L336L NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 449 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TTCAACAGCTGGGCAAGTTTA 0.587000 14 47 0 0 0.479597 0 0 MROH7 374977 broad.mit.edu 37 1 55166824 55166824 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:55166824G>A ENST00000414150.2 + 19 3392 c.3114G>A c.(3112-3114)aaG>aaA p.K1038K MROH7_ENST00000454855.2_Silent_p.K556K|MROH7_ENST00000409996.1_Silent_p.K606K|MROH7_ENST00000421030.2_Silent_p.K1038K maestro heat-like repeat family member 7 AGACCGCCAAGGTGAAGGCCC 0.567000 7 50 0 0 0.335167 0 0 SOGA2 23255 broad.mit.edu 37 18 8796376 8796376 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:8796376C>T ENST00000359865.3 + 9 2299 c.2157C>T c.(2155-2157)ttC>ttT p.F719F SOGA2_ENST00000518815.1_Silent_p.F34F|SOGA2_ENST00000517570.1_Silent_p.F678F|SOGA2_ENST00000306329.11_Silent_p.F1038F|SOGA2_ENST00000306285.7_Silent_p.F34F|SOGA2_ENST00000400050.3_Silent_p.F678F NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1029 AGAACATTTTCCTCTTCTACG 0.527000 29 71 0 0 0.779181 0 0 EPHX1 2052 broad.mit.edu 37 1 226026966 226026966 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:226026966G>A ENST00000366837.4 + 5 837 c.641G>A c.(640-642)cGg>cAg p.R214Q EPHX1_ENST00000272167.5_Missense_Mutation_p.R214Q NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 214 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CTGATGCTGCGGCTGGGCTTC 0.577000 19 63 0 0 0.608945 0 0 MUC17 140453 broad.mit.edu 37 7 100699541 100699541 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:100699541C>A ENST00000306151.4 + 12 13494 c.13430C>A c.(13429-13431)cCt>cAt p.P4477H NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4477 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACATAGACCCTGAAACAAAG 0.493000 15 56 1.15088e-07 1.34555e-07 0.500413 1 0 CERK 64781 broad.mit.edu 37 22 47116862 47116862 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:47116862C>G ENST00000216264.8 - 2 305 c.193G>C c.(193-195)Gtt>Ctt p.V65L CERK_ENST00000541677.1_5'UTR NM_022766.5 NP_073603.2 Q8TCT0 CERK1_HUMAN ceramide kinase 65 Required for binding to sulfatide and phosphoinositides. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 20 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) TTCCCGTGAACGTCTGTTTCC 0.443000 37 99 0 0 0.870114 0 0 ZNF804B 219578 broad.mit.edu 37 7 88847582 88847582 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:88847582T>A ENST00000333190.4 + 2 831 c.222T>A c.(220-222)atT>atA p.I74I NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 74 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACAATCATATTAATTCTTATG 0.383000 HNSCC(36;0.09) 35 73 0 0 0.870114 0 0 OR5D18 219438 broad.mit.edu 37 11 55587491 55587491 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55587491A>G ENST00000333976.4 + 1 406 c.386A>G c.(385-387)aAc>aGc p.N129S NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) GCCATTTGCAACCCTCTGCTC 0.478000 64 187 0 0 0.870114 0 0 CRISP1 167 broad.mit.edu 37 6 49819743 49819743 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:49819743C>T ENST00000335847.4 - 3 267 c.166G>A c.(166-168)Gtt>Att p.V56I CRISP1_ENST00000355791.2_Missense_Mutation_p.V56I|CRISP1_ENST00000329411.5_Missense_Mutation_p.V56I|CRISP1_ENST00000505118.1_Missense_Mutation_p.V56I|CRISP1_ENST00000536021.1_Missense_Mutation_p.V56I|CRISP1_ENST00000507853.1_Missense_Mutation_p.V56I NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 56 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) GCTGGTGGAACTACTCTTCTC 0.383000 30 92 0 0 0.740014 0 0 MME 4311 broad.mit.edu 37 3 154834707 154834707 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:154834707G>T ENST00000460393.1 + 7 706 c.586G>T c.(586-588)Ggg>Tgg p.G196W MME_ENST00000493237.1_Missense_Mutation_p.G196W|MME_ENST00000492661.1_Missense_Mutation_p.G196W|MME_ENST00000462745.1_Missense_Mutation_p.G196W|MME_ENST00000360490.2_Missense_Mutation_p.G196W NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 196 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTCTAAATATGGGAAAAAAGT 0.299000 19 44 2.89027e-11 3.76733e-11 0.624587 1 0 SPTBN1 6711 broad.mit.edu 37 2 54880793 54880793 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:54880793G>T ENST00000333896.5 + 26 5971 c.5586G>T c.(5584-5586)gcG>gcT p.A1862A SPTBN1_ENST00000356805.4_Silent_p.A1875A NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1875 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CGGCCTATGCGGGTGACAAGG 0.662000 17 22 9.16793e-09 1.10004e-08 0.520397 1 0 C5orf58 133874 broad.mit.edu 37 5 169672974 169672974 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:169672974C>A ENST00000521850.1 + 3 1855 c.166C>A c.(166-168)Cag>Aag p.Q56K C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.Q56K C9J3I9 CE058_HUMAN chromosome 5 open reading frame 58 56 large_intestine(1)|lung(4)|urinary_tract(1) 6 AGAGCTCTCCCAGTTATTGCT 0.348000 41 51 4.16331e-43 7.94226e-43 0.870114 1 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143625 61143625 + RNA SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:61143625G>A ENST00000475015.1 - 0 713 C20orf166-AS1_ENST00000412495.1_RNA ACACTCAGCGGTGGCCCAGGG 0.662000 10 48 0 0 0.435327 0 0 PRKG2 5593 broad.mit.edu 37 4 82031766 82031766 + Splice_Site SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:82031766C>T ENST00000395578.1 - 15 1893 c.e15-1 PRKG2_ENST00000264399.1_Splice_Site|PRKG2_ENST00000418486.2_Splice_Site|PRKG2_ENST00000545647.1_Splice_Site|PRKG2_ENST00000509169.1_Splice_Site Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 CAAAGTCAACCTGGTAAAGAA 0.428000 6 53 0 0 0.248553 0 0 SYNE1 23345 broad.mit.edu 37 6 152712596 152712596 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:152712596T>C ENST00000367255.5 - 52 8421 c.7820A>G c.(7819-7821)aAc>aGc p.N2607S SYNE1_ENST00000448038.1_Missense_Mutation_p.N2614S|SYNE1_ENST00000423061.1_Missense_Mutation_p.N2614S|SYNE1_ENST00000265368.4_Missense_Mutation_p.N2607S|SYNE1_ENST00000341594.5_Missense_Mutation_p.N2646S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2607 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTAAGTAGGTTCTGGTGGCT 0.577000 HNSCC(10;0.0054) 17 26 0 0 0.557998 0 0 HOXC12 3228 broad.mit.edu 37 12 54350232 54350232 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:54350232G>A ENST00000243103.3 + 2 827 c.731G>A c.(730-732)cGg>cAg p.R244Q NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 244 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 CGCCAGCGCCGGAGGGAACTC 0.522000 101 68 0 0 0.870114 0 0 PAPL 390928 broad.mit.edu 37 19 39590977 39590977 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:39590977C>G ENST00000331256.5 + 5 890 c.616C>G c.(616-618)Cat>Gat p.H206D PAPL_ENST00000594229.1_Intron NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 206 extracellular region acid phosphatase activity|metal ion binding CCCTGGGAATCATGAAGAACG 0.557000 41 123 0 0 0.870114 0 0 HABP2 3026 broad.mit.edu 37 10 115338513 115338513 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:115338513G>T ENST00000351270.3 + 7 792 c.696G>T c.(694-696)atG>atT p.M232I HABP2_ENST00000537906.1_3'UTR|HABP2_ENST00000542051.1_Missense_Mutation_p.M206I|HABP2_ENST00000541666.1_Missense_Mutation_p.M232I NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 232 Kringle. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) ACATGTTTATGGAGGATGCTG 0.418000 40 43 1.57019e-19 2.43467e-19 0.834066 1 0 SCUBE1 80274 broad.mit.edu 37 22 43617262 43617262 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:43617262C>T ENST00000360835.3 - 13 1592 c.1466G>A c.(1465-1467)cGc>cAc p.R489H NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 489 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GATCTTGAAGCGGGCCTTCTG 0.662000 11 44 0 0 0.479597 0 0 CHRDL1 91851 broad.mit.edu 37 X 109924844 109924844 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:109924844C>T ENST00000218054.4 - 10 1212 c.1016G>A c.(1015-1017)gGc>gAc p.G339D CHRDL1_ENST00000444321.2_Missense_Mutation_p.G340D|CHRDL1_ENST00000394797.4_Missense_Mutation_p.G339D|CHRDL1_ENST00000372042.1_Missense_Mutation_p.G341D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.G261D|CHRDL1_ENST00000372045.1_Missense_Mutation_p.G333D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.G260D NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 333 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GCAGAAGTAGCCTTTATTGTC 0.433000 48 29 0 0 0.870114 0 0 MAP2K6 5608 broad.mit.edu 37 17 67522851 67522851 + Splice_Site SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:67522851G>A ENST00000590474.1 + 10 1168 c.e10+1 MAP2K6_ENST00000589647.1_Splice_Site NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) CCTCACAGTGGTAAGACAGCC 0.468000 4 36 0 0 0.184627 0 0 NRCAM 4897 broad.mit.edu 37 7 107807498 107807498 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:107807498C>T ENST00000379028.3 - 30 3804 c.3334G>A c.(3334-3336)Gaa>Aaa p.E1112K NRCAM_ENST00000379022.4_Missense_Mutation_p.E1112K|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.E1112K|NRCAM_ENST00000351718.4_Intron Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1112 Fibronectin type-III 5. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TTTACAATTTCTTTTCTCCAT 0.383000 10 20 0 0 0.435327 0 0 RBM38 55544 broad.mit.edu 37 20 55982704 55982704 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:55982704G>T ENST00000356208.5 + 4 697 c.522G>T c.(520-522)ccG>ccT p.P174P RBM38_ENST00000371219.2_Silent_p.P93P|RBM38_ENST00000440234.2_3'UTR NM_017495.5 NP_059965.2 Q9H0Z9 RBM38_HUMAN RNA binding motif protein 38 174 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) AGTACACGCCGGCCAGCCCGG 0.677000 32 38 1.07637e-12 1.4472e-12 0.804634 1 0 TTN 7273 broad.mit.edu 37 2 179500856 179500856 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179500856C>A ENST00000589042.1 - 226 41666 c.41442G>T c.(41440-41442)aaG>aaT p.K13814N TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K4874N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K4749N|TTN_ENST00000342175.6_Missense_Mutation_p.K4941N|TTN_ENST00000342992.6_Missense_Mutation_p.K11246N|TTN_ENST00000591111.1_Missense_Mutation_p.K12173N|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12173 Ig-like 94. 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) TCTTGCCATCCTTCCTCCAGA 0.502000 13 29 3.27435e-08 3.88372e-08 0.457914 1 0 ADAMTS3 9508 broad.mit.edu 37 4 73186498 73186498 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:73186498G>C ENST00000286657.4 - 7 1071 c.1035C>G c.(1033-1035)aaC>aaG p.N345K NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 345 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTTCAGAGTGGTTGAGATCAG 0.443000 34 75 0 0 0.796494 0 0 DHDDS 79947 broad.mit.edu 37 1 26795511 26795511 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:26795511A>T ENST00000360009.2 + 9 971 c.894A>T c.(892-894)acA>acT p.T298T DHDDS_ENST00000236342.7_Silent_p.T297T|DHDDS_ENST00000525682.2_Silent_p.T263T|DHDDS_ENST00000526219.1_Silent_p.T258T NM_024887.3|NM_205861.2 NP_079163.2|NP_995583.1 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase 297 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 15 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) TCCGAAGGACACGCTTGCACA 0.642000 16 41 0 0 0.575678 0 0 RBM27 54439 broad.mit.edu 37 5 145609462 145609462 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:145609462A>G ENST00000265271.5 + 5 744 c.578A>G c.(577-579)aAt>aGt p.N193S RBM27_ENST00000506502.1_Missense_Mutation_p.N193S NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 193 Arg-rich. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGGGATCCAAATAGGAATGTT 0.473000 52 38 0 0 0.870114 0 0 PRSS58 136541 broad.mit.edu 37 7 141955444 141955444 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:141955444G>T ENST00000552471.1 - 2 409 c.90C>A c.(88-90)taC>taA p.Y30* PRSS58_ENST00000547058.2_Nonsense_Mutation_p.Y30* Q8IYP2 PRS58_HUMAN protease, serine, 58 30 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AATAGACCAAGTAAGGGGGAG 0.463000 48 95 2.13883e-14 3.01185e-14 0.870114 1 0 NMUR2 56923 broad.mit.edu 37 5 151784061 151784061 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:151784061G>T ENST00000255262.3 - 1 779 c.614C>A c.(613-615)aCg>aAg p.T205K NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 205 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.T205M(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CTTGATGACCGTACAGGTGGC 0.542000 115 85 7.96373e-59 1.57272e-58 0.870114 1 0 RIMS2 9699 broad.mit.edu 37 8 104897753 104897753 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:104897753T>C ENST00000507740.1 + 2 586 c.350T>C c.(349-351)gTa>gCa p.V117A RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.V117A|RIMS2_ENST00000436393.2_Missense_Mutation_p.V87A|RIMS2_ENST00000406091.3_Missense_Mutation_p.V309A NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 340 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.V345E(1)|p.V87E(1)|p.V117E(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAATATATTGTAGATGATGAG 0.423000 HNSCC(12;0.0054) 12 74 0 0 0.435327 0 0 SYT9 143425 broad.mit.edu 37 11 7335023 7335023 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:7335023G>A ENST00000318881.6 + 3 1132 c.895G>A c.(895-897)Gaa>Aaa p.E299K SYT9_ENST00000396716.2_Missense_Mutation_p.E267K NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 299 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CAATGACCTTGAAGCACGGAA 0.453000 79 103 0 0 0.870114 0 0 KCNC2 3747 broad.mit.edu 37 12 75601274 75601274 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:75601274C>A ENST00000549446.1 - 2 1170 c.490G>T c.(490-492)Gag>Tag p.E164* KCNC2_ENST00000350228.2_Nonsense_Mutation_p.E164*|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.E164*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.E164*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.E164*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.E164*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.E164*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.E164* NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 164 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 TCCAGCGCCTCCTCGGCGTCG 0.711000 21 12 1.64293e-13 2.25688e-13 0.654019 1 0 NEU4 129807 broad.mit.edu 37 2 242757738 242757738 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:242757738C>T ENST00000391969.2 + 5 1530 c.819C>T c.(817-819)gcC>gcT p.A273A NEU4_ENST00000404257.1_Silent_p.A285A|NEU4_ENST00000405370.1_Silent_p.A273A|NEU4_ENST00000407683.1_Silent_p.A273A|NEU4_ENST00000325935.6_Silent_p.A286A NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 273 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CCGAGACTGCCTGGGGCTGCC 0.716000 7 11 0 0 0.361761 0 0 OGN 4969 broad.mit.edu 37 9 95163390 95163390 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:95163390G>T ENST00000262551.4 - 3 672 c.252C>A c.(250-252)ccC>ccA p.P84P CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Silent_p.P84P NM_033014.2 NP_148935.1 P20774 MIME_HUMAN osteoglycin 84 extracellular space|proteinaceous extracellular matrix growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 13 TTTCTTTCTTGGGAGGTAATG 0.284000 22 32 1.13719e-10 1.45902e-10 0.729181 1 0 FAM21C 253725 broad.mit.edu 37 10 46245583 46245583 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:46245583G>T ENST00000336378.4 + 9 890 c.772G>T c.(772-774)Ggc>Tgc p.G258C FAM21C_ENST00000537517.1_Missense_Mutation_p.G258C|FAM21C_ENST00000540872.1_Missense_Mutation_p.G258C|FAM21C_ENST00000374362.2_Missense_Mutation_p.G258C|FAM21C_ENST00000359860.4_Missense_Mutation_p.G202C NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 258 p.G257S(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 GGATGATGATGGCTGTGACCT 0.388000 68 70 6.83469e-46 1.31663e-45 0.870114 1 0 SPATA31A7 26165 broad.mit.edu 37 9 65507509 65507509 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:65507509C>T ENST00000355045.2 - 3 334 c.306G>A c.(304-306)caG>caA p.Q102Q SPATA31A7_ENST00000491812.2_5'UTR NM_015667.2 NP_056482.2 SPATA31 subfamily A, member 7 TGCCTCACCTCTGCAGTTGTG 0.632000 63 201 0 0 0.870114 0 0 GRM3 2913 broad.mit.edu 37 7 86416074 86416074 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:86416074C>A ENST00000361669.2 + 3 2065 c.966C>A c.(964-966)acC>acA p.T322T GRM3_ENST00000439827.1_Silent_p.T322T|GRM3_ENST00000536043.1_Silent_p.T194T|GRM3_ENST00000394720.2_Silent_p.T320T|GRM3_ENST00000546348.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 322 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCGCCATCACCCTGGAGCTGG 0.667000 20 43 1.2644e-06 1.44236e-06 0.592651 1 0 LRP4 4038 broad.mit.edu 37 11 46900520 46900520 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:46900520C>T ENST00000378623.1 - 22 3316 c.3074G>A c.(3073-3075)gGa>gAa p.G1025E NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1025 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) ACAGCTGAATCCGCTTGGATT 0.542000 47 133 0 0 0.870114 0 0 ARID2 196528 broad.mit.edu 37 12 46245090 46245090 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:46245090C>T ENST00000334344.6 + 15 3356 c.3184C>T c.(3184-3186)Cag>Tag p.Q1062* ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q672*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q913*|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1062 Gln-rich. Q -> R (in Ref. 4; CAH18689). chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTGATTAAACAGCTTCTGCT 0.507000 """N, S, F""" hepatocellular carcinoma 84 61 0 0 0.870114 0 0 USP6 9098 broad.mit.edu 37 17 5050428 5050428 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:5050428G>C ENST00000574788.1 + 29 4600 c.2370G>C c.(2368-2370)ttG>ttC p.L790F USP6_ENST00000250066.6_Missense_Mutation_p.L790F|USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.L473F P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 790 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GCGGATTTTTGTGTGCATTTG 0.403000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 39 33 0 0 0.870114 0 0 POTEG 404785 broad.mit.edu 37 14 19553825 19553825 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:19553825C>T ENST00000409832.3 + 1 461 c.409C>T c.(409-411)Cga>Tga p.R137* NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 137 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CCACGTCCGTCGAGAAGATCT 0.577000 31 205 0 0 0.819951 0 0 C2orf70 339778 broad.mit.edu 37 2 26800411 26800411 + Nonsense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:26800411C>G ENST00000409392.1 + 4 440 c.338C>G c.(337-339)tCa>tGa p.S113* C2orf70_ENST00000329615.3_Missense_Mutation_p.Q126E A6NJV1 CB070_HUMAN chromosome 2 open reading frame 70 0 breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 13 GAAGTACTATCAAGACAAGAC 0.577000 OREG0014506 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 72 0 0 0.804634 0 0 OR5J2 282775 broad.mit.edu 37 11 55944704 55944704 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55944704G>T ENST00000312298.1 + 1 611 c.611G>T c.(610-612)gGa>gTa p.G204V NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) ACCTTCTCCGGAGTCATTGCC 0.468000 71 88 8.16569e-41 1.54276e-40 0.870114 1 0 PCOLCE 5118 broad.mit.edu 37 7 100202835 100202835 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:100202835C>T ENST00000223061.5 + 4 865 c.585C>T c.(583-585)gaC>gaT p.D195D NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 195 CUB 2. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CGCCCCCGGACCAGGTACCGA 0.667000 23 39 0 0 0.750413 0 0 ATAD2 29028 broad.mit.edu 37 8 124371525 124371525 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:124371525C>G ENST00000287394.5 - 11 1425 c.1318G>C c.(1318-1320)Gag>Cag p.E440Q ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ACCACCATCTCTTTTAGAGCT 0.328000 15 270 0 0 0.520397 0 0 CCZ1 51622 broad.mit.edu 37 7 5942366 5942366 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:5942366C>A ENST00000325974.6 + 6 579 c.513C>A c.(511-513)ttC>ttA p.F171L CCZ1_ENST00000537980.1_Missense_Mutation_p.F28L NM_015622.5 NP_056437.4 P86790 CCZ1L_HUMAN CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) 171 lysosomal membrane large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 6 TAGAGAAATTCTTCCATCGGG 0.333000 13 51 2.48551e-13 3.39294e-13 0.520397 1 0 ABR 29 broad.mit.edu 37 17 915173 915173 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:915173C>T ENST00000544583.2 - 19 2475 c.1876G>A c.(1876-1878)Gag>Aag p.E626K ABR_ENST00000302538.5_Missense_Mutation_p.E672K|ABR_ENST00000574437.1_Missense_Mutation_p.E626K|ABR_ENST00000572441.1_Intron|ABR_ENST00000291107.2_Missense_Mutation_p.E635K|ABR_ENST00000543210.2_Missense_Mutation_p.E123K|ABR_ENST00000536794.2_Missense_Mutation_p.E454K NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 672 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 GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CCCCTCTTCTCCACCTCCTCC 0.647000 56 47 0 0 0.870114 0 0 DNER 92737 broad.mit.edu 37 2 230456479 230456479 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:230456479C>A ENST00000341772.4 - 2 536 c.402G>T c.(400-402)caG>caT p.Q134H NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 134 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGGGAAGTGCCTGTTCACAGT 0.572000 29 45 1.90571e-15 2.76285e-15 0.796494 1 0 EPRS 2058 broad.mit.edu 37 1 220193330 220193330 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:220193330C>A ENST00000366923.3 - 10 1618 c.1349_splice c.e10+1 p.W450_splice NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 450 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTAAACATACCATCCATCTAC 0.373000 9 35 2.74318e-10 3.47859e-10 0.335167 1 0 PREPL 9581 broad.mit.edu 37 2 44571697 44571697 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:44571697T>C ENST00000541738.1 - 3 490 c.104A>G c.(103-105)cAa>cGa p.Q35R PREPL_ENST00000540817.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.Q124R|PREPL_ENST00000378520.3_Missense_Mutation_p.Q124R|PREPL_ENST00000410081.1_Missense_Mutation_p.Q124R|PREPL_ENST00000409936.1_Missense_Mutation_p.Q124R|PREPL_ENST00000409411.1_Missense_Mutation_p.Q35R|PREPL_ENST00000409272.1_Missense_Mutation_p.Q124R|PREPL_ENST00000409957.1_Missense_Mutation_p.Q35R|PREPL_ENST00000378511.3_Missense_Mutation_p.Q124R NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 124 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACAACCTTCTTGGTAATAAAC 0.299000 7 33 0 0 0.335167 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253685 32253685 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:32253685C>A ENST00000332378.4 - 1 189 c.159G>T c.(157-159)ctG>ctT p.L53L NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 53 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 GACAGTGGTCCAGGAGCCAAG 0.572000 24 27 7.26314e-15 1.03241e-14 0.717897 1 0 ZNF775 285971 broad.mit.edu 37 7 150093920 150093920 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:150093920C>T ENST00000329630.5 + 3 458 c.351C>T c.(349-351)agC>agT p.S117S NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGAGGTTCAGCTGGTGGTCGT 0.667000 5 11 0 0 0.184627 0 0 DOCK10 55619 broad.mit.edu 37 2 225695318 225695318 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:225695318G>T ENST00000409592.3 - 27 3071 c.2958C>A c.(2956-2958)ttC>ttA p.F986L DOCK10_ENST00000258390.7_Missense_Mutation_p.F992L Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 992 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTGCAAAGAAGAACCAGGAAT 0.279000 3 9 0.00024832 0.000265497 0.150653 1 0 NOX4 50507 broad.mit.edu 37 11 89135564 89135564 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:89135564G>T ENST00000535633.1 - 9 1014 c.704C>A c.(703-705)gCa>gAa p.A235E NOX4_ENST00000528341.1_Missense_Mutation_p.A234E|NOX4_ENST00000534731.1_Missense_Mutation_p.A259E|NOX4_ENST00000343727.5_Missense_Mutation_p.A235E|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.A235E|NOX4_ENST00000263317.4_Missense_Mutation_p.A259E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.A235E|NOX4_ENST00000527956.1_Missense_Mutation_p.A235E|NOX4_ENST00000527626.1_Missense_Mutation_p.A93E|NOX4_ENST00000413594.2_Missense_Mutation_p.A280E|NOX4_ENST00000532825.1_Missense_Mutation_p.A235E NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 259 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) GGTAAACTCTGCCGGTTTTGA 0.393000 35 116 1.57019e-19 2.43467e-19 0.834066 1 0 EEPD1 80820 broad.mit.edu 37 7 36194773 36194773 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:36194773G>T ENST00000242108.4 + 2 1558 c.840G>T c.(838-840)ggG>ggT p.G280G EEPD1_ENST00000534978.1_Silent_p.G280G NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 280 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 ACAACCCCGGGGTGCGAGAGG 0.597000 35 40 1.32136e-16 1.96502e-16 0.840704 1 0 AARS 16 broad.mit.edu 37 16 70287221 70287221 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:70287221T>C ENST00000261772.8 - 20 2814 c.2671A>G c.(2671-2673)Acg>Gcg p.T891A NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 891 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) TTGTCCACCGTGAAGAGCATG 0.572000 OREG0023912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 46 0 0 0.706142 0 0 OR3A1 4994 broad.mit.edu 37 17 3195518 3195518 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:3195518G>T ENST00000323404.1 - 1 358 c.359C>A c.(358-360)gCc>gAc p.A120D RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 120 A -> D (in Ref. 6; AAA18347). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 ATAGGCCATGGCGGTCAGCAG 0.612000 43 43 6.21074e-16 9.04428e-16 0.859065 1 0 TMEM145 284339 broad.mit.edu 37 19 42824510 42824510 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:42824510G>T ENST00000598766.1 + 13 1187 c.1187G>T c.(1186-1188)gGc>gTc p.G396V TMEM145_ENST00000301204.3_Missense_Mutation_p.G372V Q8NBT3 TM145_HUMAN transmembrane protein 145 372 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) GCCAATTTCGGCATCCCCAAG 0.562000 33 79 1.57351e-24 2.64906e-24 0.788014 1 0 ELTD1 64123 broad.mit.edu 37 1 79404905 79404905 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:79404905T>C ENST00000370742.3 - 4 427 c.364A>G c.(364-366)Ata>Gta p.I122V NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 122 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTTGCAGCTATACAGACATTA 0.244000 12 51 0 0 0.457914 0 0 MYL2 4633 broad.mit.edu 37 12 111352024 111352024 + Silent SNP A A T rs35714558 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:111352024A>T ENST00000228841.8 - 4 287 c.240T>A c.(238-240)acT>acA p.T80T MYL2_ENST00000548438.1_Silent_p.T66T NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 80 cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 TGAGGAACACAGTAAAGTTAA 0.473000 68 31 0 0 0.870114 0 0 FLNC 2318 broad.mit.edu 37 7 128475589 128475589 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:128475589G>T ENST00000325888.8 + 2 823 c.562G>T c.(562-564)Ggc>Tgc p.G188C FLNC_ENST00000346177.6_Missense_Mutation_p.G188C NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 188 Actin-binding.|CH 2. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGGCAGGACGGCAAAGCTCT 0.632000 25 40 2.48779e-11 3.25787e-11 0.693898 1 0 OR8I2 120586 broad.mit.edu 37 11 55860945 55860945 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55860945G>C ENST00000302124.2 + 1 193 c.162G>C c.(160-162)caG>caC p.Q54H OR8I2_ENST00000560768.1_Missense_Mutation_p.Q54H Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TGGATTCTCAGCTTCACACCC 0.368000 93 269 0 0 0.870114 0 0 NUAK1 9891 broad.mit.edu 37 12 106477704 106477704 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:106477704C>A ENST00000261402.2 - 4 1896 c.517G>T c.(517-519)Ggt>Tgt p.G173C NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 173 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.G173C(4) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TGGACCACACCGTTCTGAAAT 0.488000 64 20 9.81062e-57 1.92775e-56 0.870114 1 0 SYN1 6853 broad.mit.edu 37 X 47432282 47432282 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:47432282G>C ENST00000295987.7 - 13 2223 c.2099C>G c.(2098-2100)gCc>gGc p.A700G SYN1_ENST00000340666.4_3'UTR NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 700 E. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 GAAGAGGCTGGCGAAAGACTT 0.572000 31 29 0 0 0.804634 0 0 OR5D16 390144 broad.mit.edu 37 11 55606682 55606682 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55606682C>G ENST00000378396.1 + 1 455 c.455C>G c.(454-456)gCa>gGa p.A152G NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GTATTGTATGCATGGGGAGTC 0.463000 37 51 0 0 0.847076 0 0 SMC3 9126 broad.mit.edu 37 10 112340735 112340735 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:112340735A>T ENST00000361804.4 + 8 629 c.503A>T c.(502-504)tAt>tTt p.Y168F SMC3_ENST00000462899.1_3'UTR NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 168 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) ACTAGAGTGTATGACGAACGA 0.323000 34 29 0 0 0.840704 0 0 TTN 7273 broad.mit.edu 37 2 179438817 179438817 + Silent SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179438817T>G ENST00000589042.1 - 326 72266 c.72042A>C c.(72040-72042)ccA>ccC p.P24014P TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.P15074P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.P14949P|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.P15141P|TTN_ENST00000342992.6_Silent_p.P21446P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.P22373P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22373 Fibronectin type-III 74. 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) TAGCATCAGATGGCTCAGATG 0.428000 41 56 0 0 0.870114 0 0 TRADD 8717 broad.mit.edu 37 16 67188799 67188799 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:67188799C>A ENST00000345057.4 - 5 1160 c.692G>T c.(691-693)cGc>cTc p.R231L TRADD_ENST00000486556.1_Missense_Mutation_p.R171L NM_003789.3 NP_003780.1 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 231 Death.|Interaction with KRT14 and KRT18. activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CCCCACCTTGCGCCATTTGAG 0.682000 8 9 1.05317e-09 1.30269e-09 0.457914 1 0 C11orf57 55216 broad.mit.edu 37 11 111946290 111946290 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:111946290G>T ENST00000532163.1 + 2 630 c.e2-1 C11orf57_ENST00000530104.1_Splice_Site|C11orf57_ENST00000280352.9_Splice_Site|C11orf57_ENST00000420986.2_Splice_Site|C11orf57_ENST00000393047.3_Splice_Site Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) ATTCATTTCAGATTGAAGAAT 0.383000 12 26 0.00316338 0.00328556 0.479597 1 0 ROCK1 6093 broad.mit.edu 37 18 18567066 18567066 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:18567066C>A ENST00000399799.1 - 19 3089 c.2149G>T c.(2149-2151)Gaa>Taa p.E717* NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 717 Glu-rich.|Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) AGCTTTTTTTCCATCTCTGGG 0.368000 14 19 0.000308642 0.000328916 0.479597 1 0 RPS6KA1 6195 broad.mit.edu 37 1 26888135 26888135 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:26888135A>G ENST00000374168.2 + 17 1725 c.1571A>G c.(1570-1572)gAg>gGg p.E524G RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E508G|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E513G|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E432G|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E432G|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E533G NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 524 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AAAACTGTGGAGTATCTGCAC 0.577000 54 60 0 0 0.870114 0 0 CASS4 57091 broad.mit.edu 37 20 55033432 55033432 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:55033432C>A ENST00000371336.3 + 6 2191 c.1990C>A c.(1990-1992)Cag>Aag p.Q664K CASS4_ENST00000360314.3_Missense_Mutation_p.Q664K|CASS4_ENST00000434344.1_Missense_Mutation_p.Q227K NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 664 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 TTCGAGTCAACAGACTCCTGA 0.517000 23 42 4.87955e-14 6.80296e-14 0.693898 1 0 IGKV1-27 28935 broad.mit.edu 37 2 89513005 89513005 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:89513005C>A ENST00000498435.1 - 0 284 TCCACTGCCACTGAACCGAGA 0.483000 23 113 2.61193e-14 3.65969e-14 0.740014 1 0 SPIRE1 56907 broad.mit.edu 37 18 12479749 12479749 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:12479749C>A ENST00000409402.4 - 10 1620 c.1353G>T c.(1351-1353)aaG>aaT p.K451N SPIRE1_ENST00000383356.2_Missense_Mutation_p.K278N|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.K317N|SPIRE1_ENST00000309836.5_Missense_Mutation_p.K240N|SPIRE1_ENST00000410092.3_Missense_Mutation_p.K437N NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 451 cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 TGAGGAGCTTCTTCCGCTGTG 0.512000 16 21 1.52009e-12 2.03821e-12 0.479597 1 0 SZT2 23334 broad.mit.edu 37 1 43869348 43869348 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:43869348G>A ENST00000562955.1 + 3 230 c.230G>A c.(229-231)aGg>aAg p.R77K SZT2_ENST00000372450.4_Missense_Mutation_p.R75K|SZT2_ENST00000310739.4_Missense_Mutation_p.R77K NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 77 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GTGGTCCCAAGGCCATTCCTC 0.522000 52 57 0 0 0.870114 0 0 CREM 1390 broad.mit.edu 37 10 35484948 35484948 + Translation_Start_Site SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:35484948G>A ENST00000344351.5 + 0 104 CREM_ENST00000345491.3_Intron|CREM_ENST00000468236.1_De_novo_Start_InFrame|CREM_ENST00000463960.1_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000488741.1_De_novo_Start_OutOfFrame|CREM_ENST00000460270.1_Intron|CREM_ENST00000488328.1_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000474931.1_De_novo_Start_InFrame|CREM_ENST00000395887.3_Intron|CREM_ENST00000473940.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000356917.5_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000395895.2_Intron|CREM_ENST00000490511.1_De_novo_Start_InFrame|CREM_ENST00000348787.2_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000374721.3_Intron NM_182721.1 NP_874390.1 Q03060 CREM_HUMAN cAMP responsive element modulator cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 TTTTGAAGTGGTTGTCTGCTT 0.438000 OREG0020123 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 17 0 0 0.248553 0 0 SOS1 6654 broad.mit.edu 37 2 39250136 39250136 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:39250136G>A ENST00000426016.1 - 11 1519 c.1433C>T c.(1432-1434)cCa>cTa p.P478L SOS1_ENST00000402219.2_Missense_Mutation_p.P478L|SOS1_ENST00000395038.2_Missense_Mutation_p.P478L|SOS1_ENST00000472480.1_5'UTR Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 478 PH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AGGAAGTCTTGGCTGCCCATG 0.363000 Noonan syndrome 18 65 0 0 0.575678 0 0 CHST6 4166 broad.mit.edu 37 16 75513169 75513169 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:75513169C>T ENST00000332272.4 - 3 737 c.558G>A c.(556-558)ccG>ccA p.P186P RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P186P NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 186 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CGCTGAGCAGCGGGTAGAGCA 0.706000 22 58 0 0 0.681144 0 0 SNAI2 6591 broad.mit.edu 37 8 49832848 49832848 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:49832848C>A ENST00000396822.1 - 3 589 c.232G>T c.(232-234)Gga>Tga p.G78* SNAI2_ENST00000020945.1_Nonsense_Mutation_p.G78* O43623 SNAI2_HUMAN snail family zinc finger 2 78 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) GAGGAGTATCCGGAAAGAGGA 0.567000 62 56 9.53978e-28 1.66016e-27 0.870114 1 0 SPATA18 132671 broad.mit.edu 37 4 52942955 52942955 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:52942955A>T ENST00000295213.4 + 7 1143 c.769A>T c.(769-771)Agc>Tgc p.S257C SPATA18_ENST00000419395.2_Missense_Mutation_p.S225C NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 257 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) GTCCTCCAGGAGCCGGTCTCC 0.582000 21 48 0 0 0.693898 0 0 CHRM3 1131 broad.mit.edu 37 1 240072190 240072190 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:240072190G>A ENST00000255380.4 + 5 2218 c.1439G>A c.(1438-1440)aGg>aAg p.R480K NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 480 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AAGCGGAAAAGGATGTCCCTG 0.527000 21 52 0 0 0.624587 0 0 DACT1 51339 broad.mit.edu 37 14 59113649 59113649 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:59113649A>G ENST00000395153.3 + 4 2344 c.2197A>G c.(2197-2199)Agc>Ggc p.S733G DACT1_ENST00000556859.1_Missense_Mutation_p.S489G|DACT1_ENST00000541264.2_Missense_Mutation_p.S489G|DACT1_ENST00000335867.4_Missense_Mutation_p.S770G|DACT1_ENST00000395151.3_Missense_Mutation_p.S489G NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 770 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 CGTGGGGGAGAGCACAACCAC 0.577000 67 101 0 0 0.870114 0 0 FAM98A 25940 broad.mit.edu 37 2 33820593 33820593 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:33820593C>A ENST00000403368.1 - 2 234 c.165G>T c.(163-165)gtG>gtT p.V55V FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Silent_p.V55V NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 55 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) GTTTACAGAGCACTCTTAATT 0.423000 16 95 3.45872e-05 3.80362e-05 0.500413 1 0 IRGC 56269 broad.mit.edu 37 19 44223974 44223974 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:44223974G>A ENST00000244314.5 + 2 1463 c.1264G>A c.(1264-1266)Ggc>Agc p.G422S NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 422 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CAGTGACAATGGCGTGGAAAA 0.627000 12 31 0 0 0.435327 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409085 105409085 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:105409085G>T ENST00000333244.5 - 7 12822 c.12703C>A c.(12703-12705)Cag>Aag p.Q4235K AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4235 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACATCCACCTGGGGGCCCTTG 0.657000 67 130 1.15773e-35 2.13392e-35 0.870114 1 0 NDUFA11 126328 broad.mit.edu 37 19 5894810 5894810 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:5894810G>A ENST00000308961.4 - 4 416 c.369C>T c.(367-369)tcC>tcT p.S123S NDUFA11_ENST00000592634.1_3'UTR|NDUFA11_ENST00000418389.2_Intron|FUT5_ENST00000252675.5_Intron|AC024592.12_ENST00000586349.1_Intron NM_175614.4 NP_783313.1 Q86Y39 NDUAB_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa 123 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I protein transporter activity central_nervous_system(1)|lung(1) 2 NADH(DB00157) TCTTGACCAGGGAGGCCGCTA 0.667000 8 17 0 0 0.387290 0 0 ABCB11 8647 broad.mit.edu 37 2 169825929 169825929 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:169825929C>A ENST00000263817.6 - 16 2066 c.1942G>T c.(1942-1944)Ggt>Tgt p.G648C NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 648 ABC transporter 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AAGTAAACACCTTTCCTTTCC 0.428000 12 14 4.3838e-07 5.07394e-07 0.435327 1 0 NRXN1 9378 broad.mit.edu 37 2 50280718 50280718 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:50280718G>T ENST00000404971.1 - 22 5278 c.3939C>A c.(3937-3939)ctC>ctA p.L1313L NRXN1_ENST00000342183.5_Silent_p.L208L|NRXN1_ENST00000401669.2_Silent_p.L1273L|NRXN1_ENST00000406316.2_Silent_p.L1243L|NRXN1_ENST00000406859.3_Silent_p.L1243L|NRXN1_ENST00000405472.3_Silent_p.L1265L|NRXN1_ENST00000401710.1_Silent_p.L261L|NRXN1_ENST00000402717.3_Silent_p.L1265L NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1243 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGAAGATTGTGAGCTGACGCC 0.418000 24 43 2.24059e-21 3.59337e-21 0.706142 1 0 TTLL8 164714 broad.mit.edu 37 22 50468872 50468872 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:50468872C>A ENST00000266182.6 - 12 2189 c.2190G>T c.(2188-2190)ccG>ccT p.P730P TTLL8_ENST00000440475.1_Silent_p.P710P tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) TTCCTCCGGGCGGCGGACGCA 0.701000 9 9 0.00829132 0.00854824 0.361761 1 0 HCRTR1 3061 broad.mit.edu 37 1 32084919 32084919 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:32084919A>G ENST00000403528.2 + 3 511 c.126A>G c.(124-126)ccA>ccG p.P42P HCRTR1_ENST00000373706.5_Silent_p.P42P|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.P42P NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 42 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) ATCTGTACCCAAAACAGTATG 0.607000 35 192 0 0 0.840704 0 0 PLXNA4 91584 broad.mit.edu 37 7 131888125 131888125 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:131888125C>A ENST00000359827.3 - 11 3314 c.2352G>T c.(2350-2352)gtG>gtT p.V784V PLXNA4_ENST00000321063.4_Silent_p.V784V Q9HCM2 PLXA4_HUMAN plexin A4 784 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCCCATTCCACACGACTGTCA 0.562000 74 132 3.17287e-45 6.10623e-45 0.870114 1 0 COL4A3 1285 broad.mit.edu 37 2 228104898 228104898 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:228104898C>A ENST00000396578.3 + 3 346 c.184C>A c.(184-186)Cag>Aag p.Q62K AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 62 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TTCTCCTGGCCAGAAAGGATT 0.532000 5 13 0.307466 0.308724 0.307466 1 0 GALNT14 79623 broad.mit.edu 37 2 31147628 31147628 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:31147628C>A ENST00000349752.5 - 12 1852 c.1213G>T c.(1213-1215)Gag>Tag p.E405* GALNT14_ENST00000420311.2_Nonsense_Mutation_p.E370*|GALNT14_ENST00000324589.5_Nonsense_Mutation_p.E410*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.E385*|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.E372*|GALNT14_ENST00000486564.1_Intron NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 405 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TAGATATTCTCCAGGTACCAC 0.532000 8 56 0.000442599 0.000469634 0.335167 1 0 USH2A 7399 broad.mit.edu 37 1 215823935 215823935 + Splice_Site SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:215823935A>T ENST00000366943.2 - 65 14728 c.14343_splice c.e65+1 p.V4781_splice USH2A_ENST00000307340.3_Splice_Site_p.V4781_splice O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4781 Fibronectin type-III 33. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCTGCTCACCACTGTCTCAGC 0.468000 HNSCC(13;0.011) 7 34 0 0 0.248553 0 0 TRIM9 114088 broad.mit.edu 37 14 51444066 51444066 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:51444066C>G ENST00000298355.3 - 10 3197 c.2076G>C c.(2074-2076)acG>acC p.T692T NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 692 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CGGTGTGCAGCGTGACCTGGG 0.577000 16 32 0 0 0.575678 0 0 RYR2 6262 broad.mit.edu 37 1 237777747 237777747 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:237777747T>C ENST00000366574.2 + 37 5636 c.5319T>C c.(5317-5319)aaT>aaC p.N1773N RYR2_ENST00000360064.6_Silent_p.N1771N|RYR2_ENST00000542537.1_Silent_p.N1757N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1773 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCATTAGTAATGAATGTTACC 0.498000 14 59 0 0 0.479597 0 0 DOK6 220164 broad.mit.edu 37 18 67365808 67365808 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:67365808G>T ENST00000382713.5 + 5 768 c.578G>T c.(577-579)tGg>tTg p.W193L DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 193 IRS-type PTB. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) GACTCAACGTGGTTCACGTTT 0.473000 20 19 4.26978e-12 5.64796e-12 0.654019 1 0 CDH11 1009 broad.mit.edu 37 16 64981713 64981713 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:64981713T>C ENST00000268603.4 - 13 2799 c.2184A>G c.(2182-2184)gcA>gcG p.A728A CDH11_ENST00000566827.1_Silent_p.A602A|CDH11_ENST00000394156.3_3'UTR NM_001797.2 NP_001788.2 P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 728 adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GGTCATTGTCTGCCTCCTGTA 0.557000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 32 47 0 0 0.750413 0 0 KIF6 221458 broad.mit.edu 37 6 39563928 39563928 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:39563928C>T ENST00000287152.7 - 7 842 c.748G>A c.(748-750)Gac>Aac p.D250N KIF6_ENST00000373215.3_Missense_Mutation_p.D250N|KIF6_ENST00000373216.3_Missense_Mutation_p.D250N|KIF6_ENST00000538893.1_Missense_Mutation_p.D250N|KIF6_ENST00000373213.4_Missense_Mutation_p.D89N NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 250 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CCAGCCAGGTCAACCAGATGG 0.473000 66 99 0 0 0.870114 0 0 BARHL1 56751 broad.mit.edu 37 9 135458478 135458478 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:135458478C>A ENST00000263610.2 + 1 907 c.294C>A c.(292-294)atC>atA p.I98I BARHL1_ENST00000542090.1_Silent_p.I98I NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 98 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(2)|skin(3) 8 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) CCTTTCTGATCAGGGACATCC 0.706000 115 117 1.02165e-56 2.0055e-56 0.870114 1 0 CHGB 1114 broad.mit.edu 37 20 5897567 5897567 + Splice_Site SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:5897567T>A ENST00000378961.4 + 3 394 c.e3+2 CHGB_ENST00000488832.1_3'UTR NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TGAAGACGAGTAAGTGTCCCA 0.547000 13 63 0 0 0.520397 0 0 KCNJ12 3768 broad.mit.edu 37 17 21318801 21318801 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:21318801G>T ENST00000583088.1 + 3 1042 c.147G>T c.(145-147)aaG>aaT p.K49N KCNJ12_ENST00000331718.5_Missense_Mutation_p.K49N NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) TCGTCAAGAAGAATGGCCAGT 0.612000 Prostate(3;0.18) 4 40 5.9392e-07 6.82591e-07 0.217242 1 0 ACTA1 58 broad.mit.edu 37 1 229568586 229568586 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:229568586G>T ENST00000366684.3 - 3 273 c.171C>A c.(169-171)ggC>ggA p.G57G ACTA1_ENST00000366683.2_Silent_p.G57G NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 57 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GAGCCTCGTCGCCCACGTAGG 0.592000 14 54 0.000422831 0.000450118 0.500413 1 0 KIAA1549L 25758 broad.mit.edu 37 11 33566721 33566721 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:33566721C>A ENST00000321505.4 + 2 2471 c.2291C>A c.(2290-2292)cCc>cAc p.P764H KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P770H|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P770H KIAA1549-like CTGGAGATGCCCAGAGCATCC 0.592000 83 89 9.43608e-27 1.6234e-26 0.870114 1 0 FBXO40 51725 broad.mit.edu 37 3 121340501 121340501 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:121340501C>A ENST00000338040.4 + 3 639 c.225C>A c.(223-225)tcC>tcA p.S75S NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 75 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GCCCTCTGTCCATGTCCCGCC 0.597000 33 99 7.11191e-15 1.01458e-14 0.769981 1 0 VASH2 79805 broad.mit.edu 37 1 213146048 213146048 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:213146048C>T ENST00000366968.4 + 7 779 c.429C>T c.(427-429)ggC>ggT p.G143G VASH2_ENST00000366966.2_Silent_p.G143G|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Silent_p.G164G|VASH2_ENST00000517399.1_Silent_p.G208G|VASH2_ENST00000366967.2_Silent_p.G104G|VASH2_ENST00000366964.3_Silent_p.G66G NM_001136474.1 NP_001129946.1 Q86V25 VASH2_HUMAN vasohibin 2 208 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) GCTCATTGGGCATGAGCCGCA 0.488000 19 47 0 0 0.592651 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136566 40136566 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:40136566C>A ENST00000278198.2 - 2 3240 c.1277G>T c.(1276-1278)tGt>tTt p.C426F LRRC4C_ENST00000527150.1_Missense_Mutation_p.C426F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.C426F|LRRC4C_ENST00000528697.1_Missense_Mutation_p.C426F Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 426 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) ACTCACCATACATGTGTACAT 0.443000 76 75 8.87156e-34 1.61999e-33 0.870114 1 0 SLITRK3 22865 broad.mit.edu 37 3 164908132 164908132 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:164908132G>T ENST00000475390.1 - 2 930 c.487C>A c.(487-489)Cgt>Agt p.R163S SLITRK3_ENST00000241274.3_Missense_Mutation_p.R163S O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 163 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTCTCAATACGTTTAATGACA 0.368000 HNSCC(40;0.11) 22 56 2.44723e-14 3.43628e-14 0.681144 1 0 PDE6B 5158 broad.mit.edu 37 4 619666 619666 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:619666G>T ENST00000255622.6 + 1 294 c.251G>T c.(250-252)tGc>tTc p.C84F PDE6B_ENST00000496514.1_Missense_Mutation_p.C84F NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 84 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CGGCGCCTCTGCACCCTCCTG 0.662000 3 6 0.115264 0.116331 0.115264 1 0 TYW1 55253 broad.mit.edu 37 7 66463934 66463934 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:66463934C>T ENST00000359626.5 + 3 430 c.266C>T c.(265-267)aCa>aTa p.T89I NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 89 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) CAGACTGGAACAGCGAAGGTA 0.378000 13 41 0 0 0.435327 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140799836 140799836 + Nonsense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140799836A>T ENST00000398594.2 + 1 2410 c.2410A>T c.(2410-2412)Aaa>Taa p.K804* PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGATTCTTAAACAGGTAAG 0.308000 32 25 0 0 0.788014 0 0 CLNK 116449 broad.mit.edu 37 4 10567717 10567717 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:10567717C>A ENST00000226951.6 - 6 447 c.208G>T c.(208-210)Gat>Tat p.D70Y CLNK_ENST00000442825.2_Missense_Mutation_p.D28Y|CLNK_ENST00000507719.1_Missense_Mutation_p.D28Y NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker 70 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 TCAGGGTCATCATAGTCATCA 0.463000 35 110 4.14481e-20 6.49342e-20 0.819951 1 0 KMT2A 4297 broad.mit.edu 37 11 118344408 118344408 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:118344408C>T ENST00000534358.1 + 3 2557 c.2534C>T c.(2533-2535)aCt>aTt p.T845I KMT2A_ENST00000354520.4_Missense_Mutation_p.T845I|KMT2A_ENST00000389506.5_Missense_Mutation_p.T845I NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GGCTCTCAGACTGAAAGAGGG 0.507000 14 36 0 0 0.500413 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125671753 125671753 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:125671753G>T ENST00000431078.1 + 24 4173 c.3809G>T c.(3808-3810)cGt>cTt p.R1270L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1270 cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CAGTCACATCGTACGAGCCAG 0.458000 32 134 1.836e-18 2.8091e-18 0.788014 1 0 FAM171B 165215 broad.mit.edu 37 2 187627519 187627519 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:187627519G>T ENST00000304698.5 + 8 2653 c.2450G>T c.(2449-2451)cGa>cTa p.R817L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 817 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TGGAAGAAGCGAGAGGAACGC 0.438000 12 61 3.03607e-14 4.25093e-14 0.411799 1 0 RORA 6095 broad.mit.edu 37 15 60907165 60907165 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:60907165C>A ENST00000309157.4 - 2 268 c.199G>T c.(199-201)Gat>Tat p.D67Y RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000335670.6_Intron NM_002943.3 NP_002934.1 P35398 RORA_HUMAN RAR-related orphan receptor A 70 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 GTGGCTCCATCCCAGTTTATG 0.468000 16 23 3.45872e-05 3.80362e-05 0.500413 1 0 CUL5 8065 broad.mit.edu 37 11 107969145 107969145 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:107969145G>A ENST00000393094.2 + 18 2653 c.2037G>A c.(2035-2037)aaG>aaA p.K679K NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 679 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) AAAATGCAAAGGTTCAGAAAA 0.323000 19 51 0 0 0.681144 0 0 KRT28 162605 broad.mit.edu 37 17 38953282 38953282 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:38953282C>A ENST00000306658.7 - 5 929 c.864G>T c.(862-864)ctG>ctT p.L288L NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 288 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) TCTGTTGCTGCAGCGAGGCGC 0.652000 21 84 4.4004e-07 5.08715e-07 0.654019 1 0 GLI2 2736 broad.mit.edu 37 2 121747635 121747635 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:121747635G>A ENST00000452319.1 + 14 4205 c.4145G>A c.(4144-4146)cGc>cAc p.R1382H GLI2_ENST00000361492.4_Missense_Mutation_p.R1382H|GLI2_ENST00000314490.11_Intron P10070 GLI2_HUMAN GLI family zinc finger 2 1382 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCCACTGGCCGCCACCGTGGG 0.682000 13 10 0 0 0.520397 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C A rs28934576 by1000genomes TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:7577120C>A ENST00000420246.2 - 8 950 c.818G>T c.(817-819)cGt>cTt p.R273L TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 12 0.00024832 0.000265497 0.150653 1 0 VPS13B 157680 broad.mit.edu 37 8 100654432 100654432 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:100654432G>A ENST00000358544.2 + 34 5800 c.5689G>A c.(5689-5691)Gca>Aca p.A1897T VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A1872T NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1897 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CACGGTGACAGCAGAAGATCT 0.413000 17 186 0 0 0.575678 0 0 PTK2B 2185 broad.mit.edu 37 8 27294637 27294637 + Splice_Site SNP A A C rs1128434 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:27294637A>C ENST00000397501.1 + 21 2149 c.e21-1 PTK2B_ENST00000420218.2_Splice_Site|PTK2B_ENST00000517339.1_Splice_Site|PTK2B_ENST00000544172.1_Splice_Site|PTK2B_ENST00000346049.5_Splice_Site|PTK2B_ENST00000397497.4_Splice_Site|PTK2B_ENST00000338238.4_Splice_Site NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CTCTTGTTACAGAAAGGGGAG 0.537000 59 58 0 0 0.870114 0 0 CECR1 51816 broad.mit.edu 37 22 17672611 17672611 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:17672611A>G ENST00000399839.1 - 5 1113 c.843T>C c.(841-843)ccT>ccC p.P281P CECR1_ENST00000449907.2_Silent_p.P239P|CECR1_ENST00000262607.3_Silent_p.P281P|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000399837.2_Silent_p.P281P|CECR1_ENST00000330232.4_Silent_p.P40P Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 281 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CAATAAACTCAGGGTGAGTTT 0.468000 31 162 0 0 0.769981 0 0 EHMT2 10919 broad.mit.edu 37 6 31850745 31850745 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:31850745C>T ENST00000395728.3 - 23 3206 c.3207G>A c.(3205-3207)ccG>ccA p.P1069P EHMT2_ENST00000375528.4_Silent_p.P1035P|EHMT2_ENST00000375530.4_Silent_p.P978P|EHMT2_ENST00000375537.4_Silent_p.P1012P|EHMT2_ENST00000480912.1_5'UTR Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 1012 SET. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CGAAAATCAGCGGAGGCTCAA 0.582000 7 81 0 0 0.307466 0 0 BRCA1 672 broad.mit.edu 37 17 41246510 41246510 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:41246510G>T ENST00000309486.4 - 9 1177 c.150C>A c.(148-150)ccC>ccA p.P50P BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Silent_p.P346P|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Silent_p.P299P|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Silent_p.P346P|BRCA1_ENST00000357654.3_Silent_p.P346P|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Silent_p.P346P|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 346 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCTCACACAGGGGATCAGCAT 0.428000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 49 249 7.77372e-23 1.28126e-22 0.870114 1 0 RTBDN 83546 broad.mit.edu 37 19 12940753 12940753 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:12940753C>T ENST00000589272.1 - 3 466 c.137G>A c.(136-138)tGg>tAg p.W46* RTBDN_ENST00000592204.1_Nonsense_Mutation_p.W24*|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000458671.2_Nonsense_Mutation_p.W14*|RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.W46* Q9BSG5 RTBDN_HUMAN retbindin 14 extracellular region kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 TTGCAGCACCCACGTCAGGCC 0.607000 20 57 0 0 0.608945 0 0 OR2T1 26696 broad.mit.edu 37 1 248569331 248569331 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248569331C>A ENST00000366474.1 + 1 36 c.36C>A c.(34-36)ttC>ttA p.F12L NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGTTTTCTTCCCACTTTTAA 0.294000 8 32 5.18039e-06 5.82757e-06 0.278610 1 0 KCTD19 146212 broad.mit.edu 37 16 67335777 67335777 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:67335777T>C ENST00000304372.5 - 5 747 c.692A>G c.(691-693)aAc>aGc p.N231S KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 231 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TACATCAATGTTGGAGAAATT 0.418000 16 111 0 0 0.539581 0 0 KCNH2 3757 broad.mit.edu 37 7 150649743 150649743 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:150649743T>C ENST00000392968.2 - 4 2159 c.1039A>G c.(1039-1041)Acc>Gcc p.T347A KCNH2_ENST00000430723.3_Missense_Mutation_p.T443A|KCNH2_ENST00000262186.5_Missense_Mutation_p.T443A|KCNH2_ENST00000330883.4_Missense_Mutation_p.T103A Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 443 P -> S (in LQT2). 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) CCACACTCGGTAGCAGGCGGG 0.592000 77 83 0 0 0.870114 0 0 MLX 6945 broad.mit.edu 37 17 40722075 40722075 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:40722075G>T ENST00000246912.4 + 7 767 c.714G>T c.(712-714)aaG>aaT p.K238N MLX_ENST00000346833.4_Missense_Mutation_p.K154N|MLX_ENST00000435881.2_Missense_Mutation_p.K184N NM_170607.2 NP_733752.1 Q9UH92 MLX_HUMAN MLX, MAX dimerization protein 238 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 10 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) ACCAGGTCAAGTTCAACGTGT 0.537000 42 110 1.0096e-33 1.84015e-33 0.870114 1 0 FRY 10129 broad.mit.edu 37 13 32802630 32802630 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:32802630G>T ENST00000380250.3 + 40 5740 c.5244G>T c.(5242-5244)ccG>ccT p.P1748P NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1748 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGTCATCCCCGGTGCCTGACT 0.547000 121 131 1.9257e-63 3.81447e-63 0.870114 1 0 GDAP2 54834 broad.mit.edu 37 1 118439583 118439583 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:118439583C>A ENST00000369443.4 - 8 1074 c.825G>T c.(823-825)ttG>ttT p.L275F GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Missense_Mutation_p.L275F NM_017686.3 NP_060156.1 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated protein 2 275 kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) GATCAACTCCCAAGCCTTCAT 0.393000 26 56 3.67414e-24 6.14863e-24 0.760397 1 0 LRP4 4038 broad.mit.edu 37 11 46893082 46893082 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:46893082G>A ENST00000378623.1 - 31 4928 c.4686C>T c.(4684-4686)ctC>ctT p.L1562L LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1562 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GTACCTGTGTGAGGGCAAAGG 0.537000 11 14 0 0 0.435327 0 0 VPRBP 9730 broad.mit.edu 37 3 51517757 51517757 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:51517757C>T ENST00000335891.5 - 1 97 c.88G>A c.(88-90)Gac>Aac p.D30N Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 30 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) GGTACCATGTCCTGCCCACTG 0.438000 110 64 0 0 0.870114 0 0 PROS1 5627 broad.mit.edu 37 3 93643109 93643109 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:93643109C>A ENST00000394236.3 - 3 551 c.e3-1 PROS1_ENST00000407433.1_Splice_Site NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AAAAATAATCCTAGAAAGAAG 0.244000 16 31 4.96729e-08 5.86337e-08 0.575678 1 0 LGI1 9211 broad.mit.edu 37 10 95553020 95553020 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:95553020G>T ENST00000371418.4 + 7 1011 c.751G>T c.(751-753)Gtc>Ttc p.V251F LGI1_ENST00000371413.3_Missense_Mutation_p.V251F|LGI1_ENST00000542308.1_Missense_Mutation_p.V203F NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 251 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TGAGTATGTAGTCATCGCTCA 0.363000 37 26 1.49673e-21 2.41024e-21 0.819951 1 0 SLC17A1 6568 broad.mit.edu 37 6 25813433 25813433 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:25813433C>A ENST00000244527.4 - 7 740 c.625G>T c.(625-627)Ggc>Tgc p.G209C SLC17A1_ENST00000427328.1_Missense_Mutation_p.G209C|SLC17A1_ENST00000476801.1_Missense_Mutation_p.G209C|SLC17A1_ENST00000468082.1_Missense_Mutation_p.G209C NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 209 G -> C (in Ref. 9; BAA05888). sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 ACGGCACAGCCACAAGCACCT 0.423000 38 46 1.15183e-24 1.94918e-24 0.847076 1 0 ELTD1 64123 broad.mit.edu 37 1 79392734 79392734 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:79392734G>C ENST00000370742.3 - 8 983 c.920C>G c.(919-921)cCt>cGt p.P307R NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 307 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.P307H(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGAAAGCAAAGGACCAATACT 0.294000 12 46 0 0 0.681144 0 0 PFKFB3 5209 broad.mit.edu 37 10 6261529 6261529 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:6261529C>G ENST00000536985.1 + 7 566 c.486C>G c.(484-486)tgC>tgG p.C162W PFKFB3_ENST00000379775.4_Intron|PFKFB3_ENST00000379785.1_Intron|PFKFB3_ENST00000360521.2_Intron|PFKFB3_ENST00000540253.1_Intron|PFKFB3_ENST00000317350.4_Intron|PFKFB3_ENST00000379789.4_Intron|PFKFB3_ENST00000379782.3_Intron Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 468 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 TGTGGTGTTGCAGGAAGTTAA 0.498000 6 62 0 0 0.248553 0 0 ITGAX 3687 broad.mit.edu 37 16 31368665 31368665 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:31368665G>T ENST00000268296.4 + 5 531 c.410G>T c.(409-411)aGg>aTg p.R137M ITGAX_ENST00000562918.1_3'UTR|ITGAX_ENST00000562522.1_Missense_Mutation_p.R137M NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 137 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CTCACCCAGAGGCTCCCGGTG 0.657000 12 12 1.05317e-09 1.30269e-09 0.457914 1 0 VCAN 1462 broad.mit.edu 37 5 82876222 82876222 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:82876222G>T ENST00000265077.3 + 15 10725 c.10160G>T c.(10159-10161)tGg>tTg p.W3387L VCAN_ENST00000343200.5_Missense_Mutation_p.W2400L|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.W646L|VCAN_ENST00000512590.2_Missense_Mutation_p.W1585L|VCAN_ENST00000342785.4_Missense_Mutation_p.W1633L|VCAN-AS1_ENST00000513899.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3387 cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GATCATCGTTGGAGCCGGAGG 0.418000 17 9 2.37509e-13 3.24673e-13 0.592651 1 0 SLC25A11 8402 broad.mit.edu 37 17 4841325 4841325 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:4841325T>G ENST00000225665.7 - 7 1122 c.782A>C c.(781-783)aAc>aCc p.N261T SLC25A11_ENST00000544061.2_Missense_Mutation_p.N210T NM_001165417.1|NM_003562.4 NP_001158889.1|NP_003553.2 Q02978 M2OM_HUMAN solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 261 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 10 CACCAGCCCGTTCTTGTATTC 0.612000 14 170 0 0 0.520397 0 0 FAM47C 442444 broad.mit.edu 37 X 37027803 37027803 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:37027803G>T ENST00000358047.3 + 1 1372 c.1320G>T c.(1318-1320)ccG>ccT p.P440P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 440 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ATCTCCGCCCGGAACCTCCTG 0.607000 20 20 9.57634e-11 1.23187e-10 0.654019 1 0 KCNK10 54207 broad.mit.edu 37 14 88652419 88652419 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:88652419G>T ENST00000340700.5 - 7 1528 c.1077C>A c.(1075-1077)agC>agA p.S359R KCNK10_ENST00000319231.5_Missense_Mutation_p.S364R|KCNK10_ENST00000312350.5_Missense_Mutation_p.S364R NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 359 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GGATCTCCACGCTGAGCCTTC 0.647000 14 28 4.7546e-09 5.76841e-09 0.500413 1 0 METTL2B 55798 broad.mit.edu 37 7 128138164 128138164 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:128138164G>T ENST00000480046.1 + 6 804 c.689G>T c.(688-690)cGc>cTc p.R230L METTL2B_ENST00000262432.8_Missense_Mutation_p.R295L Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 295 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GATTACGGCCGCTATGACATG 0.483000 56 69 1.55545e-33 2.83241e-33 0.870114 1 0 HERC5 51191 broad.mit.edu 37 4 89383390 89383390 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:89383390G>C ENST00000264350.3 + 4 724 c.571G>C c.(571-573)Gta>Cta p.V191L HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 191 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) CCTCGCAGGAGTACCCTTGGC 0.507000 30 43 0 0 0.760397 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281797 71281797 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:71281797C>A ENST00000335793.3 - 2 1237 c.843G>T c.(841-843)ctG>ctT p.L281L CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.L211L Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 281 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) CCTCATCCTCCAGAGCATGGG 0.716000 4 19 0.00024832 0.000265497 0.150653 1 0 SPTBN4 57731 broad.mit.edu 37 19 41062025 41062025 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:41062025G>C ENST00000352632.3 + 25 5206 c.5120G>C c.(5119-5121)cGc>cCc p.R1707P SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450P|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707P|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707P|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383P|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707P Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1707 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGGTGGACCGCCTGTACGTG 0.667000 6 31 0 0 0.217242 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881291 228881291 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:228881291G>T ENST00000392056.3 - 7 4325 c.4279C>A c.(4279-4281)Cct>Act p.P1427T SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1427T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1427 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGAATCAAAGGCACTTCCCTC 0.473000 28 36 0.0416009 0.0421593 0.740014 1 0 ASTN1 460 broad.mit.edu 37 1 176845761 176845761 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:176845761C>A ENST00000367654.2 - 21 3412 c.3399G>T c.(3397-3399)tgG>tgT p.W1133C ASTN1_ENST00000424564.2_Missense_Mutation_p.W1125C|ASTN1_ENST00000367657.3_Missense_Mutation_p.W1125C|ASTN1_ENST00000361833.2_Missense_Mutation_p.W1125C O14525 ASTN1_HUMAN astrotactin 1 1133 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGTCCACTCCCCACAGCGTGA 0.602000 14 35 4.3838e-07 5.07394e-07 0.435327 1 0 CACNA1A 773 broad.mit.edu 37 19 13365938 13365938 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:13365938C>A ENST00000360228.5 - 29 4725 c.4726G>T c.(4726-4728)Gcc>Tcc p.A1576S CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1577S NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1577 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.A1577T(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GTGTTGAGGGCGATCATGGCC 0.557000 14 60 1.99824e-07 2.32792e-07 0.520397 1 0 IZUMO1 284359 broad.mit.edu 37 19 49245052 49245052 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:49245052C>T ENST00000332955.2 - 8 1295 c.748G>A c.(748-750)Gtc>Atc p.V250I NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 250 Ig-like C2-type. fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TGACCTGTGACGTGAAAATTG 0.632000 6 8 0 0 0.248553 0 0 WDFY3 23001 broad.mit.edu 37 4 85654540 85654540 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:85654540C>T ENST00000322366.6 - 44 7623 c.7216G>A c.(7216-7218)Gtg>Atg p.V2406M WDFY3_ENST00000295888.4_Missense_Mutation_p.V2406M Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2406 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTCACCGCCACATTTGTCTCT 0.388000 33 248 0 0 0.840704 0 0 PCNX 22990 broad.mit.edu 37 14 71429034 71429034 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:71429034G>T ENST00000304743.2 + 3 900 c.454G>T c.(454-456)Gat>Tat p.D152Y PCNX_ENST00000439984.3_Missense_Mutation_p.D152Y|PCNX_ENST00000238570.5_Missense_Mutation_p.D152Y NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 152 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGCCGGTCTAGATCCAAGCAA 0.498000 52 69 3.28156e-27 5.67051e-27 0.870114 1 0 AHCTF1 25909 broad.mit.edu 37 1 247014369 247014369 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:247014369T>A ENST00000366508.1 - 33 5180 c.5044A>T c.(5044-5046)Agt>Tgt p.S1682C AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1647C|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1656C|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1647 Mediates transcriptional activity (By similarity).|Necessary for nuclear 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) TTTTGGTCACTAGTTACGGCA 0.363000 27 112 0 0 0.740014 0 0 DAGLB 221955 broad.mit.edu 37 7 6470120 6470120 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:6470120C>G ENST00000297056.6 - 6 1089 c.920G>C c.(919-921)gGt>gCt p.G307A DAGLB_ENST00000428902.2_Missense_Mutation_p.G180A|DAGLB_ENST00000436575.1_Missense_Mutation_p.G266A|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000421761.2_Intron NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 307 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.G307D(1) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CCAGTCACCACCAATCCTGCA 0.458000 8 74 0 0 0.435327 0 0 USP32P3 347716 broad.mit.edu 37 17 20319876 20319876 + RNA SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:20319876G>C ENST00000583574.2 + 0 205 CATAAAGCCGGATCAGGTCCT 0.537000 34 80 0 0 0.804634 0 0 COL5A3 50509 broad.mit.edu 37 19 10079131 10079131 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:10079131C>T ENST00000264828.3 - 59 4329 c.4244G>A c.(4243-4245)gGa>gAa p.G1415E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1415 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACCAGCTTCTCCCGGGGGGCC 0.592000 35 124 0 0 0.819951 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565157 58565157 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:58565157G>C ENST00000282326.1 + 6 1212 c.965G>C c.(964-966)tGc>tCc p.C322S NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 322 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCTTTCCGTGCCCCGAGTGT 0.627000 11 61 0 0 0.500413 0 0 JAK1 3716 broad.mit.edu 37 1 65349110 65349110 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:65349110T>C ENST00000342505.4 - 3 303 c.55A>G c.(55-57)Atg>Gtg p.M19V NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 19 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GAGCTCCTCATTTTAGCACAG 0.498000 Mis ALL 24 58 0 0 0.706142 0 0 DOCK2 1794 broad.mit.edu 37 5 169506113 169506113 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:169506113C>A ENST00000256935.8 + 49 5209 c.5129C>A c.(5128-5130)gCg>gAg p.A1710E DOCK2_ENST00000540750.1_Missense_Mutation_p.A771E|DOCK2_ENST00000520908.1_Missense_Mutation_p.A1202E|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1710 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTAGTTTTTGCGGATGAGAAA 0.577000 19 14 3.62473e-10 4.55528e-10 0.608945 1 0 RYR2 6262 broad.mit.edu 37 1 237995906 237995906 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:237995906G>A ENST00000366574.2 + 105 15180 c.14863G>A c.(14863-14865)Ggg>Agg p.G4955R RYR2_ENST00000360064.6_Missense_Mutation_p.G4961R|RYR2_ENST00000542537.1_Missense_Mutation_p.G4939R|RYR2_ENST00000462585.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4955 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTCCCAGCAGGGGATTGCTT 0.418000 8 27 0 0 0.361761 0 0 OR2D3 120775 broad.mit.edu 37 11 6942516 6942516 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:6942516C>A ENST00000317834.3 + 1 312 c.284C>A c.(283-285)cCt>cAt p.P95H NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGCATTGTCCCTCAAGTGTTG 0.393000 28 50 9.39395e-14 1.29679e-13 0.706142 1 0 POLD1 5424 broad.mit.edu 37 19 50918807 50918807 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:50918807G>C ENST00000440232.2 + 21 2730 c.2677G>C c.(2677-2679)Gac>Cac p.D893H POLD1_ENST00000595904.1_Missense_Mutation_p.D919H|POLD1_ENST00000599857.1_Missense_Mutation_p.D893H NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 893 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CGCGGCCTCCGACTATGCCGG 0.677000 DNA polymerases (catalytic subunits) 8 18 0 0 0.361761 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542052 133542052 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:133542052G>T ENST00000409261.1 - 14 2705 c.2332C>A c.(2332-2334)Cac>Aac p.H778N NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.H778N|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 778 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GATATATTGTGTGTTGGTTTG 0.443000 22 112 1.17739e-12 1.58086e-12 0.693898 1 0 ZNF438 220929 broad.mit.edu 37 10 31134022 31134022 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:31134022C>A ENST00000538351.1 - 8 2962 c.2208G>T c.(2206-2208)ctG>ctT p.L736L ZNF438_ENST00000442986.1_Silent_p.L785L|ZNF438_ENST00000452305.1_Silent_p.L775L|ZNF438_ENST00000413025.1_Silent_p.L785L|ZNF438_ENST00000444692.2_Silent_p.L775L|ZNF438_ENST00000331737.6_Silent_p.L775L|ZNF438_ENST00000436087.2_Silent_p.L785L|ZNF438_ENST00000375311.1_Silent_p.L349L|ZNF438_ENST00000361310.3_Silent_p.L785L NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 785 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CTTTCCGTCCCAGCATCTCTG 0.547000 40 148 3.19069e-20 5.02674e-20 0.870114 1 0 KIF7 374654 broad.mit.edu 37 15 90172276 90172276 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:90172276G>A ENST00000394412.3 - 18 3671 c.3595C>T c.(3595-3597)Cgt>Tgt p.R1199C NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 1199 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CACATGTAACGGCCCAGTTCC 0.562000 23 59 0 0 0.654019 0 0 OR52K2 119774 broad.mit.edu 37 11 4471274 4471274 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:4471274C>G ENST00000325719.4 + 1 750 c.705C>G c.(703-705)gcC>gcG p.A235A NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCAGGAGGCCCGCTACAAGG 0.493000 84 68 0 0 0.870114 0 0 EEPD1 80820 broad.mit.edu 37 7 36338687 36338687 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:36338687G>A ENST00000242108.4 + 8 2300 c.1582G>A c.(1582-1584)Gct>Act p.A528T EEPD1_ENST00000534978.1_Missense_Mutation_p.A528T NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 528 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 GGGCGGGGTGGCTTCTGAACA 0.597000 18 125 0 0 0.575678 0 0 MAST1 22983 broad.mit.edu 37 19 12976614 12976614 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:12976614C>T ENST00000251472.4 + 16 1927 c.1888C>T c.(1888-1890)Ctg>Ttg p.L630L NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 630 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GACCAACCCTCTGGTCAGGCT 0.612000 7 41 0 0 0.335167 0 0 TCTN2 79867 broad.mit.edu 37 12 124158352 124158352 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:124158352C>G ENST00000303372.5 + 4 586 c.458C>G c.(457-459)gCc>gGc p.A153G TCTN2_ENST00000426174.2_Missense_Mutation_p.A152G NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 153 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) ACCCATAATGCCTCAGGCAAG 0.458000 104 67 0 0 0.870114 0 0 EHMT2 10919 broad.mit.edu 37 6 31855581 31855581 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:31855581C>A ENST00000395728.3 - 13 2073 c.2074G>T c.(2074-2076)Gcc>Tcc p.A692S EHMT2_ENST00000375528.4_Missense_Mutation_p.A658S|EHMT2_ENST00000375530.4_Missense_Mutation_p.A601S|EHMT2_ENST00000375537.4_Missense_Mutation_p.A635S|EHMT2_ENST00000480912.1_5'UTR Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 635 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 ATGACCAGGGCCTTTTCCAGG 0.652000 44 188 1.81118e-26 3.11054e-26 0.870114 1 0 GCNT1 2650 broad.mit.edu 37 9 79118070 79118070 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:79118070G>T ENST00000442371.1 + 3 1712 c.773G>T c.(772-774)cGg>cTg p.R258L GCNT1_ENST00000536223.1_Missense_Mutation_p.R258L|GCNT1_ENST00000444201.2_Missense_Mutation_p.R258L|GCNT1_ENST00000376730.4_Missense_Mutation_p.R258L NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 258 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 TGGAAGAAGCGGTATGAGGTC 0.463000 24 27 6.12954e-19 9.4223e-19 0.681144 1 0 BICD2 23299 broad.mit.edu 37 9 95480175 95480175 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:95480175A>T ENST00000356884.6 - 6 2229 c.2162T>A c.(2161-2163)aTg>aAg p.M721K BICD2_ENST00000375512.3_Missense_Mutation_p.M721K NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 721 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTCGGTAACCATGGCCTTCTC 0.557000 57 34 0 0 0.870114 0 0 PKD1L1 168507 broad.mit.edu 37 7 47933487 47933487 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:47933487C>A ENST00000289672.2 - 15 2491 c.2441G>T c.(2440-2442)gGg>gTg p.G814V NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 814 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GAGAGTCGCCCCAGGGTCGTC 0.582000 12 15 9.31168e-06 1.03857e-05 0.435327 1 0 ZNF235 9310 broad.mit.edu 37 19 44791636 44791636 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:44791636C>G ENST00000291182.4 - 5 2054 c.1952G>C c.(1951-1953)gGa>gCa p.G651A ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 651 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) TGGTTTCTCTCCAGTGTGAAT 0.463000 22 94 0 0 0.681144 0 0 SMAD9 4093 broad.mit.edu 37 13 37422952 37422952 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:37422952C>T ENST00000379826.4 - 7 1607 c.1265G>A c.(1264-1266)tGg>tAg p.W422* SMAD9_ENST00000399275.2_Nonsense_Mutation_p.W422*|SMAD9_ENST00000350148.5_Nonsense_Mutation_p.W385* NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 422 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) CTCAGCACCCCAACCCTGAAA 0.572000 13 18 0 0 0.411799 0 0 KIF1A 547 broad.mit.edu 37 2 241725900 241725900 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:241725900C>A ENST00000498729.2 - 6 706 c.460G>T c.(460-462)Gtc>Ttc p.V154F KIF1A_ENST00000320389.7_Missense_Mutation_p.V154F NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 154 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AGGTCACGGACGCGCTCACAG 0.652000 33 71 1.49673e-21 2.41024e-21 0.819951 1 0 EPHB2 2048 broad.mit.edu 37 1 23235559 23235559 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:23235559G>T ENST00000400191.3 + 13 2415 c.2397G>T c.(2395-2397)caG>caT p.Q799H EPHB2_ENST00000374627.1_Missense_Mutation_p.Q794H|EPHB2_ENST00000374632.3_Missense_Mutation_p.Q800H|EPHB2_ENST00000374630.3_Missense_Mutation_p.Q799H NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 799 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AAGCCATCCAGTACCGGAAGT 0.602000 34 33 5.43694e-19 8.37732e-19 0.812448 1 0 VPS13C 54832 broad.mit.edu 37 15 62173140 62173140 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:62173140G>A ENST00000261517.5 - 72 9863 c.9790C>T c.(9790-9792)Ctc>Ttc p.L3264F VPS13C_ENST00000395898.3_Missense_Mutation_p.L3221F|VPS13C_ENST00000249837.3_Missense_Mutation_p.L3221F|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.L3264F NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3264 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCCTGAATGAGGACCATAAAA 0.338000 24 28 0 0 0.654019 0 0 LPPR4 9890 broad.mit.edu 37 1 99772487 99772487 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:99772487C>A ENST00000370185.3 + 7 2710 c.2213C>A c.(2212-2214)cCt>cAt p.P738H LPPR4_ENST00000457765.1_Missense_Mutation_p.P680H|LPPR4_ENST00000370184.1_Missense_Mutation_p.P580H NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 738 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ATTCTAATCCCTGAAAGAAGC 0.488000 28 47 7.26314e-15 1.03241e-14 0.717897 1 0 GRIN2B 2904 broad.mit.edu 37 12 13716478 13716478 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:13716478G>C ENST00000279593.3 - 13 3903 c.3694C>G c.(3694-3696)Cag>Gag p.Q1232E NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1232 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCGAGTTCTGACCCGTCACC 0.602000 65 44 0 0 0.870114 0 0 RXFP1 59350 broad.mit.edu 37 4 159443138 159443138 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:159443138G>T ENST00000307765.5 + 1 261 c.10G>T c.(10-12)Ggt>Tgt p.G4C RXFP1_ENST00000423548.1_Missense_Mutation_p.G4C|RXFP1_ENST00000472969.1_3'UTR|RXFP1_ENST00000470033.1_Missense_Mutation_p.G4C|RXFP1_ENST00000460056.2_Intron|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000343542.5_Missense_Mutation_p.G4C NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 4 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AATGACATCTGGTTCTGTCTT 0.348000 13 18 3.99206e-14 5.57751e-14 0.557998 1 0 HRNR 388697 broad.mit.edu 37 1 152193129 152193129 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:152193129C>A ENST00000368801.2 - 3 1051 c.976G>T c.(976-978)Ggg>Tgg p.G326W FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 326 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCAGACCCGTGTTGGCCG 0.607000 13 84 0.000219431 0.000235766 0.457914 1 0 OR4M2 390538 broad.mit.edu 37 15 22368918 22368918 + Missense_Mutation SNP C C T rs140624818 byFrequency TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:22368918C>T ENST00000332663.2 + 1 441 c.343C>T c.(343-345)Ctc>Ttc p.L115F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GATGTTCTTGCTCACAGTGAT 0.478000 68 291 0 0 0.870114 0 0 GEN1 348654 broad.mit.edu 37 2 17946222 17946222 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:17946222A>T ENST00000381254.2 + 4 621 c.407A>T c.(406-408)gAa>gTa p.E136V SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E136V NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 136 I-domain. DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGGGAAGCTGAAGCCATGTGT 0.473000 Homologous recombination 40 65 0 0 0.864702 0 0 DRD2 1813 broad.mit.edu 37 11 113287652 113287652 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:113287652C>A ENST00000362072.3 - 4 809 c.465G>T c.(463-465)atG>atT p.M155I DRD2_ENST00000346454.3_Missense_Mutation_p.M155I|DRD2_ENST00000538967.1_Missense_Mutation_p.M155I|DRD2_ENST00000542968.1_Missense_Mutation_p.M155I|DRD2_ENST00000535984.1_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.M154I|DRD2_ENST00000355319.2_Missense_Mutation_p.M155I NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 155 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.M155I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CGATGGAGATCATGACGGTGA 0.577000 20 34 5.35356e-11 6.93208e-11 0.639603 1 0 MDM4 4194 broad.mit.edu 37 1 204506586 204506586 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:204506586G>C ENST00000367182.3 + 6 534 c.372G>C c.(370-372)caG>caC p.Q124H MDM4_ENST00000507825.2_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000391947.2_Intron|MDM4_ENST00000463049.1_Splice_Site|MDM4_ENST00000454264.2_Missense_Mutation_p.Q124H NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 124 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) CTCTCGCACAGGATCACAGTA 0.443000 A """GBM, bladder, retinoblastoma""" 24 101 0 0 0.717897 0 0 OR8I2 120586 broad.mit.edu 37 11 55861458 55861458 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55861458G>T ENST00000302124.2 + 1 706 c.675G>T c.(673-675)ctG>ctT p.L225L OR8I2_ENST00000560768.1_3'UTR Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) CAGCCATCCTGAGGATCCAGT 0.473000 92 101 4.21773e-46 8.13302e-46 0.870114 1 0 FUT10 84750 broad.mit.edu 37 8 33230147 33230147 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:33230147C>A ENST00000327671.5 - 5 2019 c.1388G>T c.(1387-1389)aGg>aTg p.R463M FUT10_ENST00000518672.1_Missense_Mutation_p.R435M|FUT10_ENST00000524021.1_Missense_Mutation_p.R435M NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 463 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) GTTTTGATTCCTATCAACCAG 0.433000 22 24 6.21321e-17 9.26788e-17 0.639603 1 0 OR5H14 403273 broad.mit.edu 37 3 97868594 97868594 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:97868594G>C ENST00000437310.1 + 1 425 c.365G>C c.(364-366)cGc>cCc p.R122P NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122H(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCATATGATCGCTATGTAGCC 0.398000 59 219 0 0 0.870114 0 0 AHNAK 79026 broad.mit.edu 37 11 62295024 62295024 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:62295024C>G ENST00000378024.4 - 5 7139 c.6865G>C c.(6865-6867)Gaa>Caa p.E2289Q AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2289 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTGGACCTTCAAGGCTCACA 0.498000 90 146 0 0 0.870114 0 0 TPCN1 53373 broad.mit.edu 37 12 113706674 113706674 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:113706674G>T ENST00000550785.1 + 7 1041 c.872G>T c.(871-873)cGg>cTg p.R291L TPCN1_ENST00000541517.1_Missense_Mutation_p.R291L|TPCN1_ENST00000392569.4_Missense_Mutation_p.R151L|TPCN1_ENST00000335509.6_Missense_Mutation_p.R219L NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 219 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.R219Q(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGTGGCGTCCGGCGGTAAGGC 0.627000 58 38 3.13743e-37 5.83217e-37 0.870114 1 0 GNAS 2778 broad.mit.edu 37 20 57415359 57415359 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:57415359C>A ENST00000313949.7 + 1 587 c.198C>A c.(196-198)aaC>aaA p.N66K GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.N66K|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.N66K P63092 GNAS2_HUMAN GNAS complex locus 66 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCTTCCTTAACGCCCACCACC 0.682000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 16 46 6.94344e-10 8.6375e-10 0.539581 1 0 PPM1A 5494 broad.mit.edu 37 14 60749475 60749475 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:60749475G>T ENST00000395076.4 + 2 484 c.54G>T c.(52-54)caG>caT p.Q18H PPM1A_ENST00000529574.1_Missense_Mutation_p.Q18H|PPM1A_ENST00000325658.3_Missense_Mutation_p.Q18H|PPM1A_ENST00000325642.3_Missense_Mutation_p.Q91H NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 18 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) CCCAGGGGCAGGGTAATGGGT 0.478000 80 148 3.48421e-20 5.48477e-20 0.870114 1 0 DCHS2 54798 broad.mit.edu 37 4 155236942 155236942 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:155236942C>A ENST00000357232.3 - 15 3852 c.3853G>T c.(3853-3855)Ggg>Tgg p.G1285W NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 1285 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ACAAACTCCCCTGGATTTTGG 0.368000 17 46 4.35082e-09 5.29161e-09 0.592651 1 0 MAP2 4133 broad.mit.edu 37 2 210518021 210518021 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:210518021C>T ENST00000360351.4 + 4 633 c.127C>T c.(127-129)Cga>Tga p.R43* MAP2_ENST00000392194.1_Nonsense_Mutation_p.R43*|MAP2_ENST00000361559.4_Nonsense_Mutation_p.R43*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.R43*|MAP2_ENST00000447185.1_Nonsense_Mutation_p.R43* NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 43 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.R43*(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGGACTTGTCCGAAGCGCCAA 0.527000 7 54 0 0 0.307466 0 0 GPR112 139378 broad.mit.edu 37 X 135429322 135429322 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:135429322A>G ENST00000394143.1 + 6 3748 c.3457A>G c.(3457-3459)Att>Gtt p.I1153V GPR112_ENST00000412101.1_Missense_Mutation_p.I948V|GPR112_ENST00000394141.1_Missense_Mutation_p.I948V|GPR112_ENST00000287534.4_Missense_Mutation_p.I1090V|GPR112_ENST00000370652.1_Missense_Mutation_p.I1153V NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1153 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCCTGACAACATTCCTCCTGC 0.478000 12 121 0 0 0.435327 0 0 MUTYH 4595 broad.mit.edu 37 1 45798269 45798269 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:45798269T>G ENST00000450313.1 - 8 882 c.667A>C c.(667-669)Att>Ctt p.I223L MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.I195L|MUTYH_ENST00000354383.6_Missense_Mutation_p.I196L|MUTYH_ENST00000372100.5_Missense_Mutation_p.I206L|MUTYH_ENST00000372098.3_Missense_Mutation_p.I220L|MUTYH_ENST00000355498.2_Missense_Mutation_p.I195L|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000448481.1_Missense_Mutation_p.I206L|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.I195L|MUTYH_ENST00000372110.3_Missense_Mutation_p.I210L|MUTYH_ENST00000372115.3_Missense_Mutation_p.I209L NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 220 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) ATAGAGGCAATGGCCCCAGCT 0.637000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 11 65 0 0 0.411799 0 0 NLRP5 126206 broad.mit.edu 37 19 56539561 56539561 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:56539561C>A ENST00000390649.3 + 7 1962 c.1962C>A c.(1960-1962)ggC>ggA p.G654G NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 654 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCCTGCTGGGCTGTCCCGTTC 0.582000 12 51 9.31168e-06 1.03857e-05 0.435327 1 0 PHOX2B 8929 broad.mit.edu 37 4 41750410 41750410 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:41750410T>A ENST00000226382.2 - 1 577 c.218A>T c.(217-219)cAc>cTc p.H73L RP11-227F19.1_ENST00000508038.1_RNA NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 73 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 ACTGCTCTGGTGGTCCCTGAG 0.587000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 8 38 0 0 0.361761 0 0 DST 667 broad.mit.edu 37 6 56324944 56324944 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:56324944G>A ENST00000370754.5 - 101 22974 c.22975C>T c.(22975-22977)Cga>Tga p.R7659* DST_ENST00000446842.2_Nonsense_Mutation_p.R7155*|DST_ENST00000244364.6_Nonsense_Mutation_p.R5080*|DST_ENST00000370769.4_Nonsense_Mutation_p.R7481*|DST_ENST00000361203.3_Nonsense_Mutation_p.R7370*|DST_ENST00000370788.2_Nonsense_Mutation_p.R5284*|DST_ENST00000421834.2_Nonsense_Mutation_p.R5366*|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 7479 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AACTGTGTTCGGACTCTGGCA 0.473000 14 15 0 0 0.457914 0 0 RPL5 6125 broad.mit.edu 37 1 93300451 93300451 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:93300451G>T ENST00000370321.3 + 4 395 c.305G>T c.(304-306)gGc>gTc p.G102V NM_000969.3 NP_000960.2 P46777 RL5_HUMAN ribosomal protein L5 102 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TATTGTACTGGCCTGCTGCTG 0.448000 48 202 3.40343e-31 6.11247e-31 0.870114 1 0 FRAS1 80144 broad.mit.edu 37 4 79240021 79240021 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:79240021G>T ENST00000264895.6 + 18 2458 c.2018G>T c.(2017-2019)tGt>tTt p.C673F FRAS1_ENST00000325942.6_Missense_Mutation_p.C673F|FRAS1_ENST00000264899.6_Missense_Mutation_p.C673F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 673 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGTACTGGGTGTAAGAAGCCA 0.517000 38 56 2.24893e-16 3.3168e-16 0.847076 1 0 DOCK4 9732 broad.mit.edu 37 7 111512348 111512348 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:111512348C>A ENST00000428084.1 - 19 2175 c.1903G>T c.(1903-1905)Ggg>Tgg p.G635W DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.G635W Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 635 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ACTTTAGACCCATATTTTTGG 0.318000 5 8 0.014758 0.0150571 0.184627 1 0 NID1 4811 broad.mit.edu 37 1 236157154 236157154 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:236157154C>A ENST00000264187.6 - 13 2628 c.2546G>T c.(2545-2547)tGc>tTc p.C849F NID1_ENST00000366595.3_Missense_Mutation_p.C716F NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 849 Thyroglobulin type-1. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CTCGTGCTGGCACCGGGTTTT 0.637000 8 19 7.48243e-07 8.56943e-07 0.335167 1 0 TMBIM1 64114 broad.mit.edu 37 2 219146817 219146817 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:219146817C>G ENST00000444881.1 - 3 773 c.48G>C c.(46-48)ctG>ctC p.L16L TMBIM1_ENST00000445635.1_Intron|TMBIM1_ENST00000396809.2_Silent_p.L16L|PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000258412.3_Silent_p.L16L Q969X1 TMBI1_HUMAN transmembrane BAX inhibitor motif containing 1 16 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2) 9 Renal(207;0.0474) Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCCTGGGTACAGGGGGTTGC 0.667000 4 20 0 0 0.184627 0 0 MUC16 94025 broad.mit.edu 37 19 9077375 9077375 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9077375G>T ENST00000397910.4 - 3 10274 c.10071C>A c.(10069-10071)gaC>gaA p.D3357E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3358 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGACATGTGTGTCCCCTGTGG 0.473000 38 118 6.61955e-31 1.18668e-30 0.870114 1 0 A2ML1 144568 broad.mit.edu 37 12 9002313 9002313 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:9002313G>T ENST00000299698.7 + 17 2257 c.2077G>T c.(2077-2079)Gat>Tat p.D693Y A2ML1_ENST00000539547.1_Missense_Mutation_p.D202Y NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 537 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GAAGCCAGTAGATTGCAGTCA 0.468000 20 70 5.45727e-16 7.96477e-16 0.729181 1 0 UBR5 51366 broad.mit.edu 37 8 103284883 103284883 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:103284883C>A ENST00000520539.1 - 48 7453 c.6847G>T c.(6847-6849)Gat>Tat p.D2283Y UBR5_ENST00000521922.1_Missense_Mutation_p.D2277Y|UBR5_ENST00000518205.1_Missense_Mutation_p.D12Y|UBR5_ENST00000220959.4_Missense_Mutation_p.D2283Y NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2283 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCTGGCTCATCCTTAAATGTG 0.408000 11 87 2.32078e-09 2.85088e-09 0.479597 1 0 MYO18A 399687 broad.mit.edu 37 17 27448161 27448161 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:27448161G>A ENST00000527372.1 - 6 1620 c.1440C>T c.(1438-1440)acC>acT p.T480T MYO18A_ENST00000354329.4_Silent_p.T480T|MYO18A_ENST00000533112.1_Silent_p.T480T|MYO18A_ENST00000531253.1_Silent_p.T480T NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 480 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CCCTGTATGCGGTCTGGGCCA 0.587000 6 29 0 0 0.217242 0 0 GALNT13 114805 broad.mit.edu 37 2 155098697 155098697 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:155098697G>C ENST00000392825.3 + 5 1033 c.466G>C c.(466-468)Gcc>Ccc p.A156P GALNT13_ENST00000409237.1_Missense_Mutation_p.A156P NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 156 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GGTAGATGATGCCAGTGAAAG 0.338000 11 62 0 0 0.411799 0 0 GOLGA3 2802 broad.mit.edu 37 12 133384999 133384999 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:133384999C>T ENST00000204726.3 - 5 1214 c.656G>A c.(655-657)cGg>cAg p.R219Q GOLGA3_ENST00000545875.1_Missense_Mutation_p.R219Q|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R219Q|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R219Q|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R219Q NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 219 Golgi-targeting domain. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CTTAGGCCCCCGAGGGACACT 0.512000 149 71 0 0 0.870114 0 0 OR10G7 390265 broad.mit.edu 37 11 123909651 123909651 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:123909651C>A ENST00000330487.5 - 1 66 c.58G>T c.(58-60)Ggg>Tgg p.G20W NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 20 G -> A (in dbSNP:rs3894199). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G20W(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 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;0.0521) GCGTCCAGCCCTGGGGCATGG 0.557000 14 107 6.2361e-21 9.91212e-21 0.834066 1 0 ASAP1 50807 broad.mit.edu 37 8 131130772 131130772 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:131130772C>T ENST00000357668.1 - 18 1784 c.1757G>A c.(1756-1758)gGg>gAg p.G586E ASAP1_ENST00000518721.1_Missense_Mutation_p.G586E Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 586 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 TAGCTCTACCCCTTCTGCATA 0.403000 78 61 0 0 0.870114 0 0 CWH43 80157 broad.mit.edu 37 4 48996702 48996702 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:48996702C>A ENST00000226432.4 + 5 761 c.578C>A c.(577-579)cCc>cAc p.P193H CWH43_ENST00000513409.1_Missense_Mutation_p.P166H NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 193 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GCCTCTAGACCCAACTGGCTG 0.478000 24 111 9.39395e-14 1.29679e-13 0.706142 1 0 AGO1 26523 broad.mit.edu 37 1 36367831 36367831 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:36367831G>T ENST00000373204.4 + 11 1503 c.1290G>T c.(1288-1290)caG>caT p.Q430H AGO1_ENST00000373206.1_Missense_Mutation_p.Q355H NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 CACCCAATCAGGGTGTCTGGG 0.582000 58 184 1.42676e-28 2.50962e-28 0.870114 1 0 SEL1L3 23231 broad.mit.edu 37 4 25750127 25750127 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:25750127T>A ENST00000399878.3 - 24 3441 c.3319A>T c.(3319-3321)Agt>Tgt p.S1107C SEL1L3_ENST00000502949.1_Missense_Mutation_p.S954C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S1072C NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 1107 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 ACAGCTGGACTTGCAGTGGAC 0.562000 8 21 0 0 0.361761 0 0 MYO3B 140469 broad.mit.edu 37 2 171400485 171400485 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:171400485C>A ENST00000334231.6 + 32 3747 c.3747C>A c.(3745-3747)gcC>gcA p.A1249A MYO3B_ENST00000409044.3_Silent_p.A1213A|MYO3B_ENST00000408978.4_Silent_p.A1240A|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 1240 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TCTGGGGAGCCCCTCAAAAGC 0.463000 24 36 2.49675e-24 4.19257e-24 0.717897 1 0 B3GAT2 135152 broad.mit.edu 37 6 71603883 71603883 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:71603883A>T ENST00000230053.6 - 2 1292 c.684T>A c.(682-684)gtT>gtA p.V228V NM_080742.2 NP_542780.1 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) 228 carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 TGTACCAGCCAACAACTTTGC 0.567000 10 88 0 0 0.361761 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431207 56431207 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:56431207G>T ENST00000302969.2 + 1 70 c.46G>T c.(46-48)Ggc>Tgc p.G16C NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TATCTTCATGGGCATCACCCA 0.403000 13 307 1.5739e-10 2.01537e-10 0.500413 1 0 FCGR3A 2214 broad.mit.edu 37 1 161514662 161514662 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:161514662G>T ENST00000367969.3 - 4 697 c.514C>A c.(514-516)Ctg>Atg p.L172M FCGR3A_ENST00000443193.1_Missense_Mutation_p.L171M|FCGR3A_ENST00000436743.1_Missense_Mutation_p.L136M|FCGR3A_ENST00000540048.1_Missense_Mutation_p.L136M NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 136 Ig-like C2-type 2. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACCTTATGCAGAGCAGTGTTC 0.483000 8 41 0.00621372 0.00641975 0.335167 1 0 UHMK1 127933 broad.mit.edu 37 1 162473556 162473556 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:162473556G>T ENST00000489294.1 + 4 924 c.766G>T c.(766-768)Gct>Tct p.A256S UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.A256S|UHMK1_ENST00000545294.1_Missense_Mutation_p.A182S NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 256 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AAACAGTTCTGCTATTATTGA 0.363000 8 61 0.00448238 0.00465059 0.307466 1 0 CAPN5 726 broad.mit.edu 37 11 76834850 76834850 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:76834850G>T ENST00000278559.3 + 13 2046 c.1857G>T c.(1855-1857)caG>caT p.Q619H CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000529629.1_Missense_Mutation_p.Q619H|CAPN5_ENST00000456580.2_Missense_Mutation_p.Q659H NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 619 C2. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 ATAGCCGGCAGCCCAGCAACC 0.617000 41 110 1.23713e-20 1.95845e-20 0.870114 1 0 NAV3 89795 broad.mit.edu 37 12 78531013 78531013 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:78531013A>C ENST00000397909.2 + 19 4671 c.4498A>C c.(4498-4500)Aac>Cac p.N1500H NAV3_ENST00000228327.6_Missense_Mutation_p.N1500H|NAV3_ENST00000536525.2_Missense_Mutation_p.N1500H|NAV3_ENST00000266692.7_Missense_Mutation_p.N1323H Q8IVL0 NAV3_HUMAN neuron navigator 3 1500 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GATGCGCTCAAACAGCATCCC 0.483000 HNSCC(70;0.22) 88 40 0 0 0.870114 0 0 TMEM25 84866 broad.mit.edu 37 11 118403765 118403765 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:118403765G>T ENST00000524725.1 + 3 928 c.516G>T c.(514-516)gtG>gtT p.V172V TMEM25_ENST00000359862.4_Silent_p.V172V|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000313236.5_Silent_p.V172V|TMEM25_ENST00000442938.2_Silent_p.V172V|TMEM25_ENST00000411589.2_Silent_p.V172V|TMEM25_ENST00000354064.7_Silent_p.V68V|TMEM25_ENST00000354284.4_Silent_p.V172V|TMEM25_ENST00000533102.1_Silent_p.V172V|TMEM25_ENST00000544878.1_Intron Q86YD3 TMM25_HUMAN transmembrane protein 25 172 extracellular region|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) ATGGGCCAGTGACTGTCAACA 0.632000 23 53 4.72057e-08 5.57886e-08 0.667858 1 0 CACNA2D1 781 broad.mit.edu 37 7 81612629 81612629 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:81612629C>A ENST00000356860.3 - 23 2233 c.e23+1 CACNA2D1_ENST00000356253.5_Intron NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AAAATACTTGCCCTTCATTTT 0.353000 10 30 9.31168e-06 1.03857e-05 0.435327 1 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42139871 42139871 + Missense_Mutation SNP C C T rs144774902 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:42139871C>T ENST00000382448.4 + 25 2861 c.2852C>T c.(2851-2853)gCg>gTg p.A951V JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.A720V|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R889W|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.A720V NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 720 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 CCCGAGGAGGCGGCAGCTGGG 0.627000 27 39 0 0 0.740014 0 0 OR6S1 341799 broad.mit.edu 37 14 21109395 21109395 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:21109395C>A ENST00000320704.3 - 1 455 c.456G>T c.(454-456)gtG>gtT p.V152V NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CGAGTCCCCCCACCCAGCAGG 0.602000 18 31 5.26018e-13 7.12611e-13 0.608945 1 0 TRIP12 9320 broad.mit.edu 37 2 230633332 230633332 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:230633332C>A ENST00000283943.5 - 40 5960 c.5782_splice c.e40+1 p.G1928_splice TRIP12_ENST00000389045.3_Splice_Site_p.G1658_splice|TRIP12_ENST00000389044.4_Splice_Site_p.G1976_splice NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1928 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TCGTACCCACCTCCAACAGGC 0.423000 24 48 8.16721e-17 1.21641e-16 0.750413 1 0 BRD4 23476 broad.mit.edu 37 19 15367952 15367952 + Silent SNP C C A rs147887666 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:15367952C>A ENST00000263377.2 - 8 1595 c.1374G>T c.(1372-1374)ccG>ccT p.P458P BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Silent_p.P458P|BRD4_ENST00000360016.5_Silent_p.P458P NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 458 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CAGGCTCGTCCGGCATCTTGG 0.647000 T C15orf55 lethal midline carcinoma of young people 4 16 0.217242 0.218355 0.217242 1 0 SNX29 92017 broad.mit.edu 37 16 12497352 12497352 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:12497352G>T ENST00000566228.1 + 18 2072 c.2003G>T c.(2002-2004)cGg>cTg p.R668L SNX29_ENST00000323433.4_Missense_Mutation_p.R283L|SNX29_ENST00000306030.3_Missense_Mutation_p.R283L NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 283 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 GTGTTTCTCCGGGGCAAAGCA 0.478000 8 33 9.70103e-10 1.20298e-09 0.361761 1 0 PDPN 10630 broad.mit.edu 37 1 13910471 13910471 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:13910471C>A ENST00000294489.6 + 1 512 c.171C>A c.(169-171)ttC>ttA p.F57L PDPN_ENST00000376057.4_Missense_Mutation_p.F57L Q86YL7 PDPN_HUMAN podoplanin 0 E -> K (in Ref. 8; BAC11557). cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) TTTTAATTTTCCCCCAGCTCA 0.647000 9 30 0.000274275 0.000292451 0.307466 1 0 RASGEF1A 221002 broad.mit.edu 37 10 43701430 43701430 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:43701430G>T ENST00000395809.1 - 2 2641 c.135C>A c.(133-135)ctC>ctA p.L45L RASGEF1A_ENST00000395810.1_Silent_p.L45L|RASGEF1A_ENST00000374459.1_Silent_p.L53L Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 45 N-terminal Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 ACCCAGAGATGAGGTGTCCAT 0.637000 5 40 2.7689e-08 3.29614e-08 0.248553 1 0 ITIH4 3700 broad.mit.edu 37 3 52852080 52852080 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:52852080C>A ENST00000266041.4 - 20 2380 c.2284G>T c.(2284-2286)Gac>Tac p.D762Y ITIH4_ENST00000346281.5_Missense_Mutation_p.D746Y|ITIH4_ENST00000406595.1_Missense_Mutation_p.D732Y|ITIH4_ENST00000485816.1_Missense_Mutation_p.D767Y NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 762 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TGCTCAGGGTCTGAGAGCAGG 0.637000 88 51 3.33393e-45 6.40989e-45 0.870114 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64666991 64666991 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:64666991G>T ENST00000498707.1 - 3 907 c.565C>A c.(565-567)Cag>Aag p.Q189K ADAMTS9_ENST00000459780.1_Missense_Mutation_p.Q189K|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q189K NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 189 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCCATAGACTGTAGTGGTTCA 0.468000 27 21 3.57733e-08 4.24052e-08 0.740014 1 0 GTPBP1 9567 broad.mit.edu 37 22 39104911 39104911 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:39104911G>T ENST00000216044.5 + 2 487 c.254G>T c.(253-255)aGg>aTg p.R85M NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 85 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) ATGTGGGAGAGGATGGACGAG 0.468000 17 107 1.55795e-14 2.19544e-14 0.608945 1 0 FAM181A 90050 broad.mit.edu 37 14 94395112 94395112 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:94395112G>A ENST00000267594.5 + 3 974 c.667G>A c.(667-669)Gag>Aag p.E223K FAM181A_ENST00000556222.1_Missense_Mutation_p.E161K|FAM181A_ENST00000557719.1_Missense_Mutation_p.E161K|FAM181A_ENST00000557000.2_Missense_Mutation_p.E161K NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 223 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GGGCCCCAGGGAGGGACCTCC 0.612000 9 26 0 0 0.387290 0 0 DDX31 64794 broad.mit.edu 37 9 135523917 135523917 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:135523917G>T ENST00000372159.3 - 10 1228 c.1077C>A c.(1075-1077)atC>atA p.I359I DDX31_ENST00000438527.3_Silent_p.I230I|DDX31_ENST00000310532.2_Silent_p.I359I|DDX31_ENST00000372153.1_Silent_p.I359I NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 359 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) TTGAGATAAGGATATTTATTC 0.388000 5 72 0.00116845 0.00122524 0.217242 1 0 MYH2 4620 broad.mit.edu 37 17 10428934 10428934 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:10428934C>A ENST00000245503.5 - 32 4756 c.e32-1 CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Splice_Site|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTGCCAGGATCTGAAAAACCA 0.463000 12 16 1.5842e-08 1.89621e-08 0.435327 1 0 PKNOX2 63876 broad.mit.edu 37 11 125237760 125237760 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:125237760C>A ENST00000298282.9 + 5 377 c.106C>A c.(106-108)Cca>Aca p.P36T PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 36 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AACCGCCCAGCCACCCTCCAA 0.662000 20 63 3.01185e-09 3.68365e-09 0.667858 1 0 ABHD4 63874 broad.mit.edu 37 14 23072417 23072417 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:23072417G>T ENST00000428304.2 + 3 305 c.235G>T c.(235-237)Ggc>Tgc p.G79C ABHD4_ENST00000544562.1_3'UTR NM_022060.2 NP_071343.2 Q8TB40 ABHD4_HUMAN abhydrolase domain containing 4 79 lipid catabolic process hydrolase activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1) 14 all_cancers(95;5.49e-05) GBM - Glioblastoma multiforme(265;0.0153) TGGTTTTGGGGGCGGCGTGGG 0.587000 16 33 1.99824e-07 2.32792e-07 0.520397 1 0 SERGEF 26297 broad.mit.edu 37 11 17981161 17981161 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:17981161C>A ENST00000265965.5 - 9 1018 c.867G>T c.(865-867)tgG>tgT p.W289C SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 289 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 CTGCTCGGCCCCAGGTAAACA 0.423000 27 30 1.30897e-18 2.0043e-18 0.740014 1 0 HRH1 3269 broad.mit.edu 37 3 11300789 11300789 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:11300789G>T ENST00000397056.1 + 3 257 c.66G>T c.(64-66)atG>atT p.M22I HRH1_ENST00000431010.2_Missense_Mutation_p.M22I|HRH1_ENST00000438284.2_Missense_Mutation_p.M22I NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 22 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) AGACCACTATGGCCAGCCCCC 0.577000 49 26 6.27289e-28 1.09552e-27 0.870114 1 0 PLA2G5 5322 broad.mit.edu 37 1 20412692 20412692 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:20412692C>A ENST00000375108.3 + 3 425 c.157C>A c.(157-159)Cga>Aga p.R53R PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 53 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) CTGGGGCGGCCGAGGAACCCC 0.532000 19 49 7.41877e-09 8.92425e-09 0.608945 1 0 ESRRB 2103 broad.mit.edu 37 14 76964746 76964746 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:76964746A>G ENST00000380887.2 + 7 1319 c.1247A>G c.(1246-1248)cAg>cGg p.Q416R RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000509242.1_Missense_Mutation_p.Q416R|ESRRB_ENST00000261532.7_Missense_Mutation_p.Q416R|ESRRB_ENST00000556177.1_Missense_Mutation_p.Q416R A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 416 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) GTCAAACTGCAGGGCAAAGTG 0.617000 6 19 0 0 0.248553 0 0 OR10G9 219870 broad.mit.edu 37 11 123893777 123893777 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:123893777G>T ENST00000375024.1 + 1 58 c.58G>T c.(58-60)Ggg>Tgg p.G20W NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G20W(2) 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) CCATGCCCCAGGGCTGGACGC 0.572000 21 341 2.65835e-16 3.90302e-16 0.717897 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254147 39254147 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:39254147A>T ENST00000333822.4 - 1 246 c.190T>A c.(190-192)Tgc>Agc p.C64S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 64 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 GGGCGACAGCAGGTGGGCTGG 0.652000 7 139 0 0 0.575678 0 0 PRKCI 5584 broad.mit.edu 37 3 170016830 170016830 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:170016830G>T ENST00000295797.4 + 17 1940 c.1635G>T c.(1633-1635)ggG>ggT p.G545G NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 545 AGC-kinase C-terminal. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) ATATTTCTGGGGAATTTGGTT 0.373000 23 67 3.80469e-20 5.98447e-20 0.740014 1 0 MAP4K3 8491 broad.mit.edu 37 2 39492365 39492365 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:39492365C>A ENST00000263881.3 - 28 2439 c.2115G>T c.(2113-2115)atG>atT p.M705I MAP4K3_ENST00000536018.1_Missense_Mutation_p.M258I|MAP4K3_ENST00000437545.1_Missense_Mutation_p.M621I|MAP4K3_ENST00000341681.5_Missense_Mutation_p.M684I NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 705 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TAAATTTCTGCATTGGTTCAA 0.313000 59 106 9.65139e-37 1.78902e-36 0.870114 1 0 GJB7 375519 broad.mit.edu 37 6 87994541 87994541 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:87994541G>T ENST00000525899.1 - 3 435 c.90C>A c.(88-90)gtC>gtA p.V30V GJB7_ENST00000296882.3_Silent_p.V30V NM_198568.2 NP_940970.1 Q6PEY0 CXB7_HUMAN gap junction protein, beta 7, 25kDa 30 cell communication connexon complex|integral to membrane endometrium(2)|large_intestine(3) 5 all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323) BRCA - Breast invasive adenocarcinoma(108;0.0167) GCAAACGGAAGACAAACACGA 0.483000 52 56 3.84483e-29 6.79335e-29 0.870114 1 0 ATXN2L 11273 broad.mit.edu 37 16 28845713 28845713 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:28845713A>T ENST00000336783.4 + 17 2389 c.2222A>T c.(2221-2223)cAg>cTg p.Q741L ATXN2L_ENST00000570200.1_Missense_Mutation_p.Q741L|ATXN2L_ENST00000565845.1_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.Q747L|ATXN2L_ENST00000395547.2_Missense_Mutation_p.Q741L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.Q741L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.Q741L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.Q741L NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 741 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCTGGGCAGCAGGGCAAGTAC 0.602000 13 115 0 0 0.435327 0 0 CALB1 793 broad.mit.edu 37 8 91078188 91078188 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:91078188G>T ENST00000265431.3 - 6 569 c.388C>A c.(388-390)Ctg>Atg p.L130M CALB1_ENST00000518457.1_Missense_Mutation_p.L73M NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 130 EF-hand 3. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) TTTTCTAGCAGGTCCTTTAGA 0.343000 5 44 5.9392e-07 6.82591e-07 0.217242 1 0 SRCAP 10847 broad.mit.edu 37 16 30721316 30721316 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:30721316A>G ENST00000262518.4 + 8 1386 c.1001A>G c.(1000-1002)gAg>gGg p.E334G SRCAP_ENST00000395059.2_Missense_Mutation_p.E334G|SRCAP_ENST00000344771.4_Missense_Mutation_p.E334G NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 334 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) CCACTGGAAGAGCTGCTCCGT 0.552000 24 54 0 0 0.667858 0 0 OR4C46 119749 broad.mit.edu 37 11 51515578 51515578 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:51515578C>T ENST00000328188.1 + 1 297 c.297C>T c.(295-297)gtC>gtT p.V99V NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TGACTCAAGTCTTTGGAGAAC 0.453000 5 192 0 0 0.184627 0 0 OR2T4 127074 broad.mit.edu 37 1 248525168 248525168 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248525168A>T ENST00000366475.1 + 1 286 c.286A>T c.(286-288)Agt>Tgt p.S96C NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTTTCATCAGTCAATTGTC 0.493000 53 236 0 0 0.870114 0 0 NAE1 8883 broad.mit.edu 37 16 66842948 66842948 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:66842948C>T ENST00000379463.2 - 17 1355 c.1163G>A c.(1162-1164)aGa>aAa p.R388K NAE1_ENST00000359087.4_Missense_Mutation_p.R397K|NAE1_ENST00000394074.2_Missense_Mutation_p.R305K|NAE1_ENST00000290810.3_Missense_Mutation_p.R394K NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 394 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) GGATCGACATCTTACCACTCG 0.343000 41 64 0 0 0.870114 0 0 PAOX 196743 broad.mit.edu 37 10 135203147 135203147 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:135203147G>T ENST00000278060.5 + 6 1371 c.1288G>T c.(1288-1290)Gcc>Tcc p.A430S PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Intron NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 568 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) CTGGCACAGCGCCCCGTACAC 0.677000 29 22 6.00712e-18 9.10578e-18 0.760397 1 0 LRRC7 57554 broad.mit.edu 37 1 70397207 70397207 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:70397207C>G ENST00000310961.5 + 9 984 c.566C>G c.(565-567)gCc>gGc p.A189G LRRC7_ENST00000035383.5_Missense_Mutation_p.A184G|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 184 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CACAAACTGGCCCAGTTGGAA 0.403000 8 47 0 0 0.411799 0 0 VRTN 55237 broad.mit.edu 37 14 74825188 74825188 + Missense_Mutation SNP G G T rs140697985 byFrequency TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:74825188G>T ENST00000256362.4 + 2 1943 c.1702G>T c.(1702-1704)Ggg>Tgg p.G568W NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 568 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CTTGGGCAAAGGGGGGCAGGA 0.612000 34 62 4.65686e-17 6.96755e-17 0.788014 1 0 KRTAP20-2 337976 broad.mit.edu 37 21 32007737 32007737 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:32007737G>T ENST00000330798.2 + 1 183 c.155G>T c.(154-156)cGc>cTc p.R52L NM_181616.1 NP_853647.1 Q3LI61 KR202_HUMAN keratin associated protein 20-2 52 intermediate filament central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1) 8 GGCTGCTGCCGCCCATCTTGC 0.547000 67 49 2.43516e-34 4.47168e-34 0.870114 1 0 DENND2A 27147 broad.mit.edu 37 7 140221874 140221874 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:140221874C>A ENST00000275884.6 - 17 3109 c.2692G>T c.(2692-2694)Gtg>Ttg p.V898L DENND2A_ENST00000537639.1_Missense_Mutation_p.V898L|DENND2A_ENST00000496613.1_Missense_Mutation_p.V898L Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 898 dDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TCAGACACCACCTCGTTCAAG 0.587000 42 45 2.69774e-35 4.9678e-35 0.870114 1 0 OBSCN 84033 broad.mit.edu 37 1 228476023 228476023 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:228476023G>T ENST00000570156.2 + 42 11434 c.11360G>T c.(11359-11361)aGg>aTg p.R3787M OBSCN_ENST00000422127.1_Missense_Mutation_p.R3358M|OBSCN_ENST00000366709.4_Missense_Mutation_p.R477M|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3358M|OBSCN_ENST00000366707.4_Missense_Mutation_p.R477M|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2205M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2823 Ig-like 38. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTCACCATCAGGCGTAAGACC 0.572000 9 36 7.48243e-07 8.56943e-07 0.335167 1 0 ZFR2 23217 broad.mit.edu 37 19 3813841 3813841 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:3813841C>A ENST00000262961.4 - 14 2229 c.2219G>T c.(2218-2220)cGg>cTg p.R740L NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 740 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GGGGTCCTCCCGCATCAGAGG 0.637000 21 84 2.65835e-16 3.90302e-16 0.717897 1 0 EDIL3 10085 broad.mit.edu 37 5 83433089 83433089 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:83433089C>A ENST00000296591.5 - 5 857 c.439G>T c.(439-441)Ggc>Tgc p.G147C EDIL3_ENST00000380138.3_Missense_Mutation_p.G137C NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 147 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) ATAAATTCGCCTGGGCACTCA 0.393000 50 59 1.53716e-24 2.5923e-24 0.870114 1 0 SPTBN4 57731 broad.mit.edu 37 19 41000860 41000860 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:41000860T>G ENST00000352632.3 + 6 730 c.644T>G c.(643-645)tTc>tGc p.F215C SPTBN4_ENST00000338932.3_Missense_Mutation_p.F215C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.F215C|SPTBN4_ENST00000344104.3_Missense_Mutation_p.F215C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.F215C Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 215 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCTTGGCCTTCAATGCCCTC 0.572000 12 60 0 0 0.479597 0 0 EPB41L1 2036 broad.mit.edu 37 20 34797439 34797439 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:34797439G>A ENST00000338074.2 + 15 1859 c.1698G>A c.(1696-1698)gaG>gaA p.E566E EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Silent_p.E492E|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Silent_p.E566E|EPB41L1_ENST00000373950.2_Silent_p.E457E|EPB41L1_ENST00000202028.5_Silent_p.E492E NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 566 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GCTCCGAGGAGAAAGTCAAAC 0.567000 14 26 0 0 0.500413 0 0 KDM5C 8242 broad.mit.edu 37 X 53246992 53246992 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:53246992C>A ENST00000452825.3 - 2 839 c.307G>T c.(307-309)Gga>Tga p.G103* KDM5C_ENST00000375401.3_Nonsense_Mutation_p.G170*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.G170*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.G170*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.G129* NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 170 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 AGGTTGGCTCCAGACTGGTAC 0.498000 """N, F, S""" clear cell renal carcinoma 13 13 9.16793e-09 1.10004e-08 0.520397 1 0 OR52K1 390036 broad.mit.edu 37 11 4510542 4510542 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:4510542C>A ENST00000307632.3 + 1 434 c.412C>A c.(412-414)Ctg>Atg p.L138M NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CACGACGGTCCTGACTGGGTC 0.572000 27 38 6.00712e-18 9.10578e-18 0.760397 1 0 SYTL2 54843 broad.mit.edu 37 11 85436501 85436501 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:85436501C>G ENST00000359152.5 - 1 2570 c.2571G>C c.(2569-2571)caG>caC p.Q857H SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.Q333H|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.Q333H NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 365 C2 2. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTGCAGCCATCTGAATCAAAT 0.458000 43 111 0 0 0.870114 0 0 PIP 5304 broad.mit.edu 37 7 142832330 142832330 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142832330C>A ENST00000291009.3 + 2 179 c.139C>A c.(139-141)Cgt>Agt p.R47S NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 47 extracellular region actin binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) CAAGTCAGTACGTCCAAATGA 0.423000 23 37 1.39806e-14 1.97296e-14 0.729181 1 0 FHL5 9457 broad.mit.edu 37 6 97052653 97052653 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:97052653C>T ENST00000326771.2 + 4 567 c.187C>T c.(187-189)Cat>Tat p.H63Y FHL5_ENST00000541107.1_Missense_Mutation_p.H63Y NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 63 LIM zinc-binding 1. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CCGGCACTGGCATGAAGGATG 0.413000 29 28 0 0 0.796494 0 0 MRPS27 23107 broad.mit.edu 37 5 71519590 71519590 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:71519590C>A ENST00000261413.5 - 10 964 c.925G>T c.(925-927)Ggg>Tgg p.G309W MRPS27_ENST00000513900.1_Missense_Mutation_p.G323W|MRPS27_ENST00000457646.4_Missense_Mutation_p.G253W NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 309 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) TTTTCTGACCCCTGGTTGTCT 0.502000 34 37 6.97489e-18 1.05321e-17 0.804634 1 0 TBC1D20 128637 broad.mit.edu 37 20 422529 422529 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:422529C>G ENST00000354200.4 - 4 643 c.496G>C c.(496-498)Gta>Cta p.V166L TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 166 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) AATTTTTCTACCAGGGATGTT 0.542000 24 74 0 0 0.693898 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121693973 121693973 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:121693973C>A ENST00000393386.2 + 26 6673 c.6262C>A c.(6262-6264)Cag>Aag p.Q2088K PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Q1221K NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 2088 Tyrosine-protein phosphatase 2. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GGGCTATTACCAGAGCAATGA 0.403000 47 168 2.12129e-23 3.51994e-23 0.870114 1 0 R3HDM1 23518 broad.mit.edu 37 2 136396346 136396346 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:136396346C>T ENST00000264160.4 + 13 1349 c.979C>T c.(979-981)Cgc>Tgc p.R327C R3HDM1_ENST00000329971.3_Missense_Mutation_p.R283C|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R271C|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R327C|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R283C NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 327 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CCAGCAGAGGCGCCAGATATT 0.353000 7 54 0 0 0.335167 0 0 PDE11A 50940 broad.mit.edu 37 2 178936929 178936929 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:178936929T>A ENST00000286063.5 - 1 553 c.236A>T c.(235-237)aAt>aTt p.N79I PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 79 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GGCAGAGCCATTTGGTCCAGT 0.662000 Primary Pigmented Nodular Adrenocortical Disease, Familial 10 19 0 0 0.387290 0 0 IGLV7-46 28775 broad.mit.edu 37 22 22724374 22724374 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:22724374C>A ENST00000390295.2 + 0 304 TCCTTGGGGGCAAAGCTGCCC 0.567000 9 30 0.00621372 0.00641975 0.335167 1 0 ACACB 32 broad.mit.edu 37 12 109700163 109700163 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:109700163G>T ENST00000338432.7 + 49 6795 c.6674_splice c.e49-1 p.G2226_splice ACACB_ENST00000377854.5_Splice_Site_p.G2156_splice|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Splice_Site_p.G2226_splice O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2226 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TCTTTTAAGGGGTGGTGTTCT 0.502000 25 18 5.60225e-13 7.58429e-13 0.740014 1 0 PTPRN 5798 broad.mit.edu 37 2 220164859 220164859 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:220164859G>C ENST00000295718.2 - 9 1524 c.1284C>G c.(1282-1284)gtC>gtG p.V428V AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.V428V|PTPRN_ENST00000423636.2_Silent_p.V338V NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 428 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GCTCAGAGGAGACAGGGCTTG 0.637000 62 93 0 0 0.870114 0 0 LRRC18 474354 broad.mit.edu 37 10 50121474 50121474 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:50121474G>T ENST00000374160.3 - 1 803 c.727C>A c.(727-729)Ccc>Acc p.P243T WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.P243T|RP11-523O18.7_ENST00000430438.1_RNA NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 243 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 ATGGAATTGGGTGAGATCAGA 0.537000 80 61 4.05715e-38 7.59216e-38 0.870114 1 0 MGAT4C 25834 broad.mit.edu 37 12 86374058 86374058 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:86374058C>T ENST00000604798.1 - 8 1650 c.446G>A c.(445-447)cGt>cAt p.R149H MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 149 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.R149H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CATGGCATCACGCCAGGAAGA 0.398000 4 114 0 0 0.150653 0 0 THSD7B 80731 broad.mit.edu 37 2 138169364 138169364 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:138169364G>A ENST00000409968.1 + 14 3059 c.2881G>A c.(2881-2883)Gaa>Aaa p.E961K THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E930K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E961K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGAATGTGGAGAAGGCCTGCG 0.512000 7 89 0 0 0.248553 0 0 GBP7 388646 broad.mit.edu 37 1 89616195 89616195 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:89616195T>A ENST00000294671.2 - 6 827 c.689A>T c.(688-690)aAa>aTa p.K230I NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 230 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GCACTTCTGTTTTGGAAAGAA 0.403000 40 57 0 0 0.864702 0 0 C7orf10 79783 broad.mit.edu 37 7 40314173 40314173 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:40314173A>T ENST00000309930.5 + 8 683 c.659A>T c.(658-660)tAt>tTt p.Y220F C7orf10_ENST00000401647.2_Intron|C7orf10_ENST00000335693.4_Missense_Mutation_p.Y220F NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 220 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 CTGTATGCATATGGAGCTATT 0.403000 17 66 0 0 0.520397 0 0 SLC35F1 222553 broad.mit.edu 37 6 118635280 118635280 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:118635280C>A ENST00000360388.4 + 8 1293 c.1092C>A c.(1090-1092)ccC>ccA p.P364P NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 364 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) CCCAGGACCCCCGAGTGTATA 0.527000 107 74 1.12488e-73 2.24177e-73 0.870114 1 0 RADIL 55698 broad.mit.edu 37 7 4917565 4917565 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:4917565C>A ENST00000399583.3 - 2 393 c.206G>T c.(205-207)gGg>gTg p.G69V RADIL_ENST00000536091.1_Missense_Mutation_p.G69V NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 69 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GACACTGTCCCCAAACACCTT 0.672000 5 32 1.12685e-05 1.25114e-05 0.307466 1 0 OR6M1 390261 broad.mit.edu 37 11 123676224 123676224 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:123676224C>A ENST00000309154.2 - 1 871 c.834G>T c.(832-834)gtG>gtT p.V278V NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GGAGAGGGGTCACCACTGTGA 0.478000 37 92 4.44401e-20 6.95107e-20 0.853193 1 0 OR5L2 26338 broad.mit.edu 37 11 55594985 55594985 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55594985C>A ENST00000378397.1 + 1 291 c.291C>A c.(289-291)tgC>tgA p.C97* NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C97C(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TCCTAGGGTGCATGGTGCAAT 0.478000 HNSCC(27;0.073) 56 200 3.05417e-18 4.66926e-18 0.870114 1 0 RIMBP2 23504 broad.mit.edu 37 12 130919330 130919330 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:130919330C>G ENST00000261655.4 - 11 2314 c.2151G>C c.(2149-2151)agG>agC p.R717S RIMBP2_ENST00000535703.1_Missense_Mutation_p.R625S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.R625S NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 717 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGGCGCCCCTCCTCTTGAAGT 0.632000 24 127 0 0 0.654019 0 0 ENTPD8 377841 broad.mit.edu 37 9 140331373 140331373 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:140331373T>A ENST00000371506.2 - 5 686 c.503A>T c.(502-504)gAa>gTa p.E168V ENTPD8_ENST00000344119.2_Missense_Mutation_p.E168V|ENTPD8_ENST00000472938.1_Missense_Mutation_p.E168V NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 168 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) AAAGGCACCTTCGGCCTGCCC 0.657000 14 90 0 0 0.539581 0 0 NPIPB15 440348 broad.mit.edu 37 16 74425335 74425335 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:74425335G>T ENST00000429990.1 + 7 785 c.689G>T c.(688-690)tGc>tTc p.C230F nuclear pore complex interacting protein family, member B15 GGATTGCCCTGCTGGCCCTAC 0.493000 27 57 1.36615e-20 2.15921e-20 0.769981 1 0 KIF1A 547 broad.mit.edu 37 2 241713676 241713676 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:241713676C>A ENST00000498729.2 - 12 1207 c.961G>T c.(961-963)Ggt>Tgt p.G321C KIF1A_ENST00000320389.7_Missense_Mutation_p.G321C NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 321 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTTGAGTTACCGCCTGTGGGA 0.577000 12 25 1.49906e-05 1.65877e-05 0.457914 1 0 SZT2 23334 broad.mit.edu 37 1 43903514 43903514 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:43903514G>T ENST00000562955.1 + 45 6278 c.6278G>T c.(6277-6279)cGt>cTt p.R2093L SZT2_ENST00000372442.1_Missense_Mutation_p.R1251L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2150 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GATGCTGCTCGTCCTGTGGGC 0.587000 28 148 2.61193e-14 3.65969e-14 0.740014 1 0 LCMT1 51451 broad.mit.edu 37 16 25143810 25143810 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:25143810G>T ENST00000399069.3 + 3 448 c.293G>T c.(292-294)gGg>gTg p.G98V LCMT1_ENST00000380966.4_Missense_Mutation_p.G98V NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 98 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) GTCAACCTTGGGGCAGGCATG 0.438000 19 32 1.96292e-10 2.49399e-10 0.592651 1 0 DKK2 27123 broad.mit.edu 37 4 107846966 107846966 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:107846966G>T ENST00000285311.3 - 2 1068 c.363C>A c.(361-363)cgC>cgA p.R121R DKK2_ENST00000513208.1_Silent_p.R21R|DKK2_ENST00000510463.1_Silent_p.R75R NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 121 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CATTATTGCAGCGGGTACTGG 0.498000 22 118 1.26454e-06 1.44236e-06 0.693898 1 0 SVEP1 79987 broad.mit.edu 37 9 113169575 113169575 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:113169575G>A ENST00000401783.2 - 38 8641 c.8305C>T c.(8305-8307)Cgc>Tgc p.R2769C SVEP1_ENST00000297826.5_Missense_Mutation_p.R695C|SVEP1_ENST00000374469.1_Missense_Mutation_p.R2746C NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2769 Sushi 22. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCTTCACAGCGTGGGGAGGCA 0.463000 25 41 0 0 0.729181 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741214 140741214 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140741214C>A ENST00000522605.1 + 1 1512 c.1512C>A c.(1510-1512)taC>taA p.Y504* PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTATCCTACGTGTCCGTGA 0.632000 38 25 4.44401e-20 6.95107e-20 0.853193 1 0 DOCK2 1794 broad.mit.edu 37 5 169506025 169506025 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:169506025G>T ENST00000256935.8 + 49 5121 c.5041G>T c.(5041-5043)Gag>Tag p.E1681* DOCK2_ENST00000540750.1_Nonsense_Mutation_p.E742*|DOCK2_ENST00000520908.1_Nonsense_Mutation_p.E1173*|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1681 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTGGAGCAGGAGGAACCGAT 0.542000 58 58 2.84776e-26 4.87796e-26 0.870114 1 0 HCN3 57657 broad.mit.edu 37 1 155254516 155254516 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:155254516C>T ENST00000368358.3 + 4 1065 c.1057C>T c.(1057-1059)Ctg>Ttg p.L353L HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 353 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CATCCAGTCCCTGGACTCTTC 0.602000 18 69 0 0 0.639603 0 0 SMC4 10051 broad.mit.edu 37 3 160138648 160138648 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:160138648A>G ENST00000357388.3 + 13 2429 c.1978A>G c.(1978-1980)Aga>Gga p.R660G SMC4_ENST00000462787.1_Missense_Mutation_p.R660G|SMC4_ENST00000469762.1_Missense_Mutation_p.R635G|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.R660G|SMC4_ENST00000344722.5_Missense_Mutation_p.R660G NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 660 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTTCCTTAAAAGACAAAATAT 0.338000 17 45 0 0 0.520397 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81058294 81058294 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:81058294G>T ENST00000334512.5 + 15 2195 c.1623G>T c.(1621-1623)ccG>ccT p.P541P NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 541 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACCCTTCCCGCCTGACATCA 0.662000 27 48 3.11337e-16 4.55406e-16 0.769981 1 0 SYNE3 161176 broad.mit.edu 37 14 95942060 95942060 + Silent SNP C C A rs146245189 byFrequency TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:95942060C>A ENST00000334258.5 - 1 113 c.99G>T c.(97-99)acG>acT p.T33T SYNE3_ENST00000553340.1_Silent_p.T33T|SYNE3_ENST00000557275.1_Silent_p.T33T NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 GGGGTCCCTGCGTGTTGTCAT 0.657000 9 26 7.48243e-07 8.56943e-07 0.335167 1 0 ZNF415 55786 broad.mit.edu 37 19 53612593 53612593 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:53612593C>G ENST00000455735.2 - 7 1169 c.849G>C c.(847-849)caG>caC p.Q283H ZNF415_ENST00000440291.1_Missense_Mutation_p.Q222H|ZNF415_ENST00000421033.1_Missense_Mutation_p.Q247H|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q235H|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.Q235H|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q283H|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.Q5H Q09FC8 ZN415_HUMAN zinc finger protein 415 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) AATGACTTACCTGACGTACAG 0.408000 12 83 0 0 0.435327 0 0 OR2A5 393046 broad.mit.edu 37 7 143748172 143748172 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:143748172G>C ENST00000408906.2 + 1 712 c.678G>C c.(676-678)ttG>ttC p.L226F NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) CGGCCATCTTGAGGATCCAGT 0.597000 85 184 0 0 0.870114 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160267991 160267991 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:160267991G>T ENST00000264431.4 + 19 3489 c.3070G>T c.(3070-3072)Gta>Tta p.V1024L NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1024 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GACCTCTCCAGTAGCTCCAAG 0.478000 27 111 3.90053e-15 5.61756e-15 0.760397 1 0 DCAF6 55827 broad.mit.edu 37 1 168012315 168012315 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:168012315G>T ENST00000367840.3 + 14 1874 c.1780G>T c.(1780-1782)Ggt>Tgt p.G594C DCAF6_ENST00000312263.6_Missense_Mutation_p.G517C|DCAF6_ENST00000432587.2_Missense_Mutation_p.G563C|DCAF6_ENST00000367843.3_Missense_Mutation_p.G537C NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 553 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 CAAATCTGAGGGTCAGGAGGA 0.398000 24 40 1.39806e-14 1.97296e-14 0.729181 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37490204 37490204 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:37490204C>T ENST00000374660.1 + 37 3108 c.3009C>T c.(3007-3009)ccC>ccT p.P1003P ANKRD30A_ENST00000361713.1_Silent_p.P884P|ANKRD30A_ENST00000602533.1_Silent_p.P884P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1027 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGTGTGTACCCAAGGCTACAC 0.299000 31 59 0 0 0.804634 0 0 SPTBN1 6711 broad.mit.edu 37 2 54858612 54858612 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:54858612G>T ENST00000333896.5 + 15 3774 c.3389G>T c.(3388-3390)cGg>cTg p.R1130L SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1143L NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1143 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CTGCGGCAGCGGCTGCAGGCC 0.562000 35 117 2.40579e-17 3.61053e-17 0.819951 1 0 ANPEP 290 broad.mit.edu 37 15 90349646 90349646 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:90349646T>C ENST00000300060.6 - 2 482 c.169A>G c.(169-171)Acc>Gcc p.T57A NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 57 Cytosolic Ser/Thr-rich junction. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GCGGGGTTGGTGGTGGCTGAG 0.612000 94 97 0 0 0.870114 0 0 MDGA1 266727 broad.mit.edu 37 6 37619860 37619860 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:37619860G>T ENST00000434837.2 - 7 2417 c.1239C>A c.(1237-1239)taC>taA p.Y413* MDGA1_ENST00000297153.7_Nonsense_Mutation_p.Y413*|MDGA1_ENST00000505425.1_Nonsense_Mutation_p.Y413* NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 413 Ig-like 4. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CCATGCACAGGTAGGTGCCAT 0.612000 4 26 0.00024832 0.000265497 0.150653 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171723 68171723 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:68171723C>A ENST00000243457.3 + 2 926 c.543C>A c.(541-543)gcC>gcA p.A181A KCNJ2_ENST00000535240.1_Silent_p.A181A NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 181 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) CAGTCATGGCCAAGATGGCAA 0.498000 27 91 1.68575e-08 2.01286e-08 0.717897 1 0 MUC17 140453 broad.mit.edu 37 7 100680571 100680571 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:100680571C>A ENST00000306151.4 + 3 5938 c.5874C>A c.(5872-5874)acC>acA p.T1958T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1958 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTGACCACTTATTCTC 0.483000 156 383 1.10254e-51 2.15351e-51 0.870114 1 0 FANCF 2188 broad.mit.edu 37 11 22647010 22647010 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:22647010A>G ENST00000327470.3 - 1 377 c.347T>C c.(346-348)tTt>tCt p.F116S AC103801.2_ENST00000428556.2_5'UTR NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 116 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 CGGGCCGGGAAAGAGTTGCTG 0.672000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 123 0 0 0.639603 0 0 BUB1B 701 broad.mit.edu 37 15 40498599 40498599 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:40498599A>T ENST00000287598.6 + 15 2144 c.1949A>T c.(1948-1950)gAg>gTg p.E650V BUB1B_ENST00000412359.3_Missense_Mutation_p.E664V NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 650 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) AAGACCTCTGAGGACCAGCAG 0.433000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 38 34 0 0 0.834066 0 0 SNTG1 54212 broad.mit.edu 37 8 51314826 51314826 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:51314826G>C ENST00000522124.1 + 4 745 c.84G>C c.(82-84)cgG>cgC p.R28R SNTG1_ENST00000518864.1_Silent_p.R28R|SNTG1_ENST00000276467.5_Silent_p.R28R|SNTG1_ENST00000517473.1_Silent_p.R28R NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 28 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCAAAGTGCGGCTGCACCTAG 0.388000 46 103 0 0 0.870114 0 0 OR5D16 390144 broad.mit.edu 37 11 55607012 55607012 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55607012G>T ENST00000378396.1 + 1 785 c.785G>T c.(784-786)tGt>tTt p.C262F NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TTCCTCTACTGTGTACCCAAC 0.527000 62 74 2.6465e-34 4.85522e-34 0.870114 1 0 KIF5C 3800 broad.mit.edu 37 2 149679736 149679736 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:149679736C>A ENST00000435030.1 + 2 525 c.157C>A c.(157-159)Cta>Ata p.L53I O60282 KIF5C_HUMAN kinesin family member 5C 53 Kinesin-motor. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CGACAGAGTGCTACCTCCCAA 0.408000 5 41 0.00198382 0.0020714 0.248553 1 0 FBN3 84467 broad.mit.edu 37 19 8191639 8191639 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:8191639C>A ENST00000600128.1 - 19 2788 c.2374G>T c.(2374-2376)Ggc>Tgc p.G792C FBN3_ENST00000270509.2_Missense_Mutation_p.G792C|FBN3_ENST00000601739.1_Missense_Mutation_p.G792C Q75N90 FBN3_HUMAN fibrillin 3 792 EGF-like 10; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CTGCCAGGGCCACATTTGCAG 0.667000 12 25 6.72482e-11 8.66765e-11 0.479597 1 0 ABCA13 154664 broad.mit.edu 37 7 48547486 48547486 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:48547486G>T ENST00000435803.1 + 50 13389 c.13365G>T c.(13363-13365)caG>caT p.Q4455H ABCA13_ENST00000544596.1_Missense_Mutation_p.Q185H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4455 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCATCCGTCAGTGTGGAGTGG 0.547000 18 17 1.37657e-19 2.1412e-19 0.608945 1 0 SSFA2 6744 broad.mit.edu 37 2 182780574 182780574 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:182780574G>T ENST00000431877.2 + 11 2386 c.2207G>T c.(2206-2208)aGg>aTg p.R736M SSFA2_ENST00000428267.2_Missense_Mutation_p.R583M|SSFA2_ENST00000409136.1_Missense_Mutation_p.R245M|SSFA2_ENST00000320370.7_Missense_Mutation_p.R736M|SSFA2_ENST00000409001.1_Missense_Mutation_p.R736M NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 736 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CCTCTAAGAAGGTCTCAGTCT 0.433000 28 80 1.56442e-22 2.56769e-22 0.760397 1 0 KCNB2 9312 broad.mit.edu 37 8 73849808 73849808 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:73849808A>T ENST00000523207.1 + 3 2806 c.2218A>T c.(2218-2220)Acc>Tcc p.T740S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 740 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACTGCCAGTCACCACAGCTGA 0.557000 51 244 0 0 0.870114 0 0 ALDOA 226 broad.mit.edu 37 16 30081487 30081487 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:30081487G>T ENST00000566897.1 + 12 2201 c.1049G>T c.(1048-1050)gGg>gTg p.G350V ALDOA_ENST00000564546.1_Missense_Mutation_p.G350V|ALDOA_ENST00000563060.2_Missense_Mutation_p.G350V|ALDOA_ENST00000338110.5_Missense_Mutation_p.G350V|ALDOA_ENST00000395248.1_Missense_Mutation_p.G404V|ALDOA_ENST00000395240.3_Missense_Mutation_p.G354V|ALDOA_ENST00000412304.2_Missense_Mutation_p.G350V|ALDOA_ENST00000569798.1_3'UTR|ALDOA_ENST00000564595.2_Missense_Mutation_p.G404V|ALDOA_ENST00000569545.1_Missense_Mutation_p.G350V P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 350 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 GGTCAGGCTGGGGCTGCTGCC 0.627000 17 124 1.85244e-09 2.2827e-09 0.654019 1 0 CLCA1 1179 broad.mit.edu 37 1 86959282 86959282 + Splice_Site SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:86959282G>A ENST00000234701.3 + 11 2031 c.1680_splice c.e11+1 p.K560_splice CLCA1_ENST00000394711.1_Splice_Site_p.K560_splice A8K7I4 CLCA1_HUMAN chloride channel accessory 1 560 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCATTGCTAAGGTATGGAGTC 0.388000 13 20 0 0 0.457914 0 0 CYP27C1 339761 broad.mit.edu 37 2 127952990 127952990 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:127952990A>T ENST00000335247.7 - 5 770 c.640T>A c.(640-642)Tta>Ata p.L214I CYP27C1_ENST00000409327.1_Missense_Mutation_p.L214I NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 214 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) CTTTCCCCTAAATTCTTCACA 0.532000 15 53 0 0 0.539581 0 0 MYO18B 84700 broad.mit.edu 37 22 26270253 26270253 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:26270253G>T ENST00000335473.7 + 23 4202 c.3951_splice c.e23-1 p.V1318_splice MYO18B_ENST00000536101.1_Splice_Site_p.V1318_splice|MYO18B_ENST00000407587.2_Splice_Site_p.V1319_splice NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1318 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTCTCCCCAGGTTTTTCTCAA 0.542000 45 83 4.6707e-30 8.30488e-30 0.870114 1 0 C3orf36 80111 broad.mit.edu 37 3 133647318 133647318 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:133647318C>A ENST00000408895.2 - 1 1338 c.330G>T c.(328-330)ggG>ggT p.G110G NM_025041.2 NP_079317.2 Q3SXR2 CC036_HUMAN chromosome 3 open reading frame 36 110 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 6 GTGGGTGGTTCCCCCCAGGTG 0.662000 14 26 1.5739e-10 2.01537e-10 0.500413 1 0 LIG4 3981 broad.mit.edu 37 13 108863581 108863581 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:108863581A>T ENST00000356922.4 - 2 308 c.36T>A c.(34-36)tcT>tcA p.S12S LIG4_ENST00000405925.1_Silent_p.S12S|LIG4_ENST00000442234.1_Silent_p.S12S NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 12 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AAGGAACGTGAGATGCAACAG 0.353000 Non-homologous end-joining 22 25 0 0 0.681144 0 0 OBSCN 84033 broad.mit.edu 37 1 228468314 228468314 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:228468314G>T ENST00000570156.2 + 35 9375 c.9301G>T c.(9301-9303)Gac>Tac p.D3101Y OBSCN_ENST00000422127.1_Missense_Mutation_p.D2672Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.D2672Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.D1519Y NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2102 Ig-like 31. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGAAGTCTCTGACCCCGAGGC 0.652000 24 60 9.39395e-14 1.29679e-13 0.706142 1 0 STRA6 64220 broad.mit.edu 37 15 74481483 74481483 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:74481483C>A ENST00000323940.5 - 12 1308 c.1063G>T c.(1063-1065)Gtg>Ttg p.V355L STRA6_ENST00000416286.3_Missense_Mutation_p.V347L|STRA6_ENST00000395105.4_Missense_Mutation_p.V355L|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Missense_Mutation_p.V370L|STRA6_ENST00000449139.2_Missense_Mutation_p.V355L|STRA6_ENST00000423167.2_Missense_Mutation_p.V346L|STRA6_ENST00000563965.1_Missense_Mutation_p.V394L|STRA6_ENST00000535552.1_Missense_Mutation_p.V392L NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 355 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 TGGTGCTTCACCAGCTCCACC 0.617000 19 19 2.44723e-14 3.43628e-14 0.681144 1 0 EPB41L1 2036 broad.mit.edu 37 20 34761806 34761806 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:34761806G>T ENST00000338074.2 + 2 268 c.107G>T c.(106-108)gGc>gTc p.G36V EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G36V|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000202028.5_Intron NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 36 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) ACCCCTGCAGGCCACGGCCAC 0.647000 4 10 0.00909568 0.00932367 0.150653 1 0 LAMA2 3908 broad.mit.edu 37 6 129635808 129635808 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:129635808G>T ENST00000421865.2 + 24 3469 c.3420G>T c.(3418-3420)gtG>gtT p.V1140V NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1140 Laminin EGF-like 13. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGGTGAATGTGGAAGGCATCC 0.498000 15 24 1.99824e-07 2.32792e-07 0.520397 1 0 PI16 221476 broad.mit.edu 37 6 36922668 36922668 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:36922668G>T ENST00000373674.3 + 1 460 c.132G>T c.(130-132)cgG>cgT p.R44R NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 44 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACCTCTACCGGGCCCAGGTAT 0.627000 35 57 2.20914e-33 4.01532e-33 0.859065 1 0 COL22A1 169044 broad.mit.edu 37 8 139890201 139890201 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:139890201G>A ENST00000303045.6 - 3 896 c.450C>T c.(448-450)acC>acT p.T150T COL22A1_ENST00000435777.1_Silent_p.T150T NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 150 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGCGGCCGTCGGTGAGCAGGA 0.736000 HNSCC(7;0.00092) 4 7 0 0 0.150653 0 0 RASAL3 64926 broad.mit.edu 37 19 15564222 15564222 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:15564222C>G ENST00000343625.6 - 15 2446 c.2366G>C c.(2365-2367)cGc>cCc p.R789P NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 789 Arg-rich. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GCGAACGCTGCGCAGAGACTG 0.726000 3 6 0 0 0.184627 0 0 MRPL49 740 broad.mit.edu 37 11 64893330 64893330 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:64893330G>T ENST00000279242.2 + 4 506 c.487G>T c.(487-489)Gag>Tag p.E163* MRPL49_ENST00000531705.1_Intron|MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000534078.1_3'UTR NM_004927.3 NP_004918.1 Q13405 RM49_HUMAN mitochondrial ribosomal protein L49 163 translation mitochondrial ribosome protein binding|structural constituent of ribosome endometrium(1)|ovary(1) 2 CTGGCTCTTGGAGAAAGGCTT 0.602000 13 70 2.61681e-11 3.41998e-11 0.457914 1 0 ACACA 31 broad.mit.edu 37 17 35581990 35581990 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:35581990G>A ENST00000353139.5 - 27 3878 c.3397C>T c.(3397-3399)Cgc>Tgc p.R1133C ACACA_ENST00000394406.2_Missense_Mutation_p.R1096C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1018C|ACACA_ENST00000360679.3_Missense_Mutation_p.R1038C NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1096 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TGGTTATGGCGAAGCTCATAT 0.373000 22 95 0 0 0.681144 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518458 113518458 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:113518458T>A ENST00000284601.3 - 4 2757 c.2689A>T c.(2689-2691)Att>Ttt p.I897F NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 897 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 GAATGCACAATGGCATCCGAG 0.368000 35 72 0 0 0.779181 0 0 CLHC1 130162 broad.mit.edu 37 2 55436803 55436803 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:55436803C>T ENST00000401408.1 - 6 1009 c.664G>A c.(664-666)Gat>Aat p.D222N CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.D222N|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.D100N NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 TCAGCTACATCTCGCCGTTTT 0.299000 8 51 0 0 0.307466 0 0 ZNF831 128611 broad.mit.edu 37 20 57829030 57829030 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:57829030A>T ENST00000371030.2 + 5 4266 c.4266A>T c.(4264-4266)caA>caT p.Q1422H NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1422 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TATCTCTGCAATCTGACACCT 0.517000 27 46 0 0 0.750413 0 0 FCN1 2219 broad.mit.edu 37 9 137808285 137808285 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:137808285C>A ENST00000371806.3 - 2 217 c.126G>T c.(124-126)gaG>gaT p.E42D NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 42 opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TGTCAGAGCCCTCCAGGCCCA 0.642000 71 70 1.14856e-27 1.99348e-27 0.870114 1 0 MRGPRX3 117195 broad.mit.edu 37 11 18158991 18158991 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:18158991T>C ENST00000396275.2 + 3 603 c.242T>C c.(241-243)aTa>aCa p.I81T NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 81 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GGCCACATTATATGTTCGCCG 0.547000 44 34 0 0 0.870114 0 0 MMP16 4325 broad.mit.edu 37 8 89053794 89053794 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:89053794C>A ENST00000286614.6 - 10 2000 c.1719G>T c.(1717-1719)ttG>ttT p.L573F NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 573 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GGCATAAGGCCAAGATGCAGG 0.473000 17 148 2.37509e-13 3.24673e-13 0.592651 1 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959614 45959614 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:45959614G>A ENST00000400375.1 - 1 464 c.420C>T c.(418-420)tcC>tcT p.S140S TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 140 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GCACACAGCAGGACTGCTGGC 0.577000 92 113 0 0 0.870114 0 0 CNGA2 1260 broad.mit.edu 37 X 150912760 150912760 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:150912760C>A ENST00000329903.4 + 6 1818 c.1785C>A c.(1783-1785)gtC>gtA p.V595V NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 595 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GCATGGAGGTCGACGTGCAGG 0.577000 95 44 3.45881e-44 6.62405e-44 0.870114 1 0 SLC5A9 200010 broad.mit.edu 37 1 48698140 48698140 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:48698140C>A ENST00000236495.5 + 9 1124 c.1074C>A c.(1072-1074)gtC>gtA p.V358V SLC5A9_ENST00000533824.1_Silent_p.V354V|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000438567.2_Silent_p.V333V NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 333 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 TCTTCATCGTCATGCCTGGCA 0.572000 39 38 2.43139e-17 3.64338e-17 0.870114 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140744546 140744546 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140744546G>T ENST00000518069.1 + 1 649 c.649G>T c.(649-651)Ggc>Tgc p.G217C PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTTTAGATGGCGGAGACCC 0.577000 50 26 5.13769e-22 8.34874e-22 0.870114 1 0 DCAF15 90379 broad.mit.edu 37 19 14070233 14070233 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:14070233C>G ENST00000254337.6 + 7 1182 c.1161C>G c.(1159-1161)gtC>gtG p.V387V NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 387 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 CTGGCTATGTCAACTACACCA 0.672000 15 32 0 0 0.539581 0 0 NID2 22795 broad.mit.edu 37 14 52494053 52494053 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:52494053G>T ENST00000216286.5 - 12 2539 c.2540C>A c.(2539-2541)cCa>cAa p.P847Q NID2_ENST00000541773.1_Intron NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 847 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GTTGGCAGGTGGGGTGATCAC 0.562000 4 17 1.58986e-06 1.80608e-06 0.361761 1 0 FAM120A 23196 broad.mit.edu 37 9 96261151 96261151 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:96261151A>T ENST00000277165.6 + 5 1207 c.1013A>T c.(1012-1014)cAt>cTt p.H338L FAM120A_ENST00000333936.5_Missense_Mutation_p.H338L|FAM120A_ENST00000340893.4_Missense_Mutation_p.H338L|FAM120A_ENST00000375389.3_Missense_Mutation_p.H338L NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 338 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 ATGTCATTTCATCCACCACAT 0.328000 31 99 0 0 0.796494 0 0 DOK6 220164 broad.mit.edu 37 18 67365809 67365809 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:67365809G>T ENST00000382713.5 + 5 769 c.579G>T c.(577-579)tgG>tgT p.W193C DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 193 IRS-type PTB. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) ACTCAACGTGGTTCACGTTTG 0.473000 21 19 4.26978e-12 5.64796e-12 0.654019 1 0 NEUROG3 50674 broad.mit.edu 37 10 71332522 71332522 + Missense_Mutation SNP C C T rs121917838 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:71332522C>T ENST00000242462.4 - 2 307 c.278G>A c.(277-279)cGc>cAc p.R93H NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 93 R -> L (in DIAR4; attenuated NEUROG3 function in vivo). central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 CATTCGATTGCGCTCGCGGTC 0.662000 5 21 0 0 0.184627 0 0 MED12L 116931 broad.mit.edu 37 3 151085961 151085961 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:151085961C>T ENST00000474524.1 + 23 3405 c.3367C>T c.(3367-3369)Cct>Tct p.P1123S MED12L_ENST00000273432.4_Missense_Mutation_p.P983S|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1123 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGACGCCGAGCCTGGGGCGAG 0.512000 20 74 0 0 0.639603 0 0 PROKR1 10887 broad.mit.edu 37 2 68882465 68882465 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:68882465G>T ENST00000303786.3 + 3 1359 c.939G>T c.(937-939)gtG>gtT p.V313V PROKR1_ENST00000394342.2_Silent_p.V313V Q8TCW9 PKR1_HUMAN prokineticin receptor 1 313 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCCCCACCGTGTTTGTGAAGG 0.562000 57 64 3.00063e-23 4.96647e-23 0.870114 1 0 FNDC1 84624 broad.mit.edu 37 6 159653318 159653318 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:159653318C>A ENST00000297267.9 + 11 1974 c.1774C>A c.(1774-1776)Ccc>Acc p.P592T FNDC1_ENST00000340366.6_Missense_Mutation_p.P529T NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 592 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCCAGCGCTGCCCCGAAGGGA 0.697000 6 6 0.00116845 0.00122524 0.217242 1 0 C1orf127 148345 broad.mit.edu 37 1 11008247 11008247 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:11008247T>A ENST00000377004.4 - 12 1944 c.1945A>T c.(1945-1947)Agc>Tgc p.S649C C1orf127_ENST00000377008.4_Missense_Mutation_p.S482C NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 500 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ATGTCCTGGCTTGGTTCTGAG 0.647000 18 63 0 0 0.592651 0 0 TSSK4 283629 broad.mit.edu 37 14 24676331 24676331 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:24676331C>A ENST00000339917.5 + 3 654 c.450C>A c.(448-450)ccC>ccA p.P150P TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000287913.6_Intron|TSSK4_ENST00000428351.2_Intron|TSSK4_ENST00000556621.1_Intron|TM9SF1_ENST00000556387.1_Intron NM_001184739.1|NM_174944.3 NP_001171668.1|NP_777604.2 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 147 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) GCCTGATGCCCAGCCTTTCTG 0.522000 23 62 2.48779e-11 3.25787e-11 0.693898 1 0 NMU 10874 broad.mit.edu 37 4 56496606 56496606 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:56496606C>A ENST00000264218.3 - 2 239 c.134G>T c.(133-135)gGa>gTa p.G45V NMU_ENST00000507338.1_Missense_Mutation_p.G45V|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000505262.1_Missense_Mutation_p.G45V|NMU_ENST00000511469.1_Missense_Mutation_p.G45V NM_006681.2 NP_006672.1 P48645 NMU_HUMAN neuromedin U 45 neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) AGGCTGTAATCCTTGAGGTAA 0.308000 16 85 1.00905e-13 1.39001e-13 0.575678 1 0 ACTRT1 139741 broad.mit.edu 37 X 127185085 127185085 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:127185085C>A ENST00000371124.3 - 1 1297 c.1101G>T c.(1099-1101)ggG>ggT p.G367G NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 367 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CCACAGATGTCCCATACTCCT 0.463000 89 34 2.01602e-52 3.94168e-52 0.870114 1 0 B3GNT5 84002 broad.mit.edu 37 3 182988576 182988576 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:182988576G>T ENST00000326505.3 + 2 1520 c.990G>T c.(988-990)caG>caT p.Q330H MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.Q330H|B3GNT5_ENST00000465010.1_Missense_Mutation_p.Q330H|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 330 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AAGATCTCCAGGACCTTTGGA 0.368000 19 28 7.87624e-14 1.09343e-13 0.639603 1 0 TECPR2 9895 broad.mit.edu 37 14 102891465 102891465 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:102891465G>A ENST00000359520.7 + 6 1014 c.788G>A c.(787-789)gGg>gAg p.G263E TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.G263E NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 263 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GCTTTTGCCGGGGGAGTCAAG 0.532000 32 38 0 0 0.788014 0 0 C7orf49 78996 broad.mit.edu 37 7 134852536 134852536 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:134852536T>A ENST00000430372.1 - 3 483 c.158A>T c.(157-159)tAc>tTc p.Y53F C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000483029.2_5'UTR|C7orf49_ENST00000393114.3_Missense_Mutation_p.Y54F NM_001243751.1|NM_024033.3 NP_001230680.1|NP_076938.2 Q9BWK5 MRI_HUMAN chromosome 7 open reading frame 49 54 cytoplasm endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 ATTCATGCAGTACACAGTCCT 0.473000 36 50 0 0 0.834066 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508406 106508406 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:106508406C>A ENST00000359195.3 + 2 710 c.400C>A c.(400-402)Cag>Aag p.Q134K PIK3CG_ENST00000440650.2_Missense_Mutation_p.Q134K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.Q134K NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 134 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GAGCCCGGGCCAGATCCACCT 0.632000 27 35 2.08457e-15 3.01993e-15 0.750413 1 0 LUZP2 338645 broad.mit.edu 37 11 24927592 24927592 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:24927592C>A ENST00000533227.1 + 6 481 c.194C>A c.(193-195)gCa>gAa p.A65E LUZP2_ENST00000336930.6_Missense_Mutation_p.A151E NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 151 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GGCATTCACGCAGAAGAGGTG 0.328000 22 30 7.26314e-15 1.03241e-14 0.717897 1 0 AGPS 8540 broad.mit.edu 37 2 178301781 178301781 + Splice_Site SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:178301781A>T ENST00000264167.4 + 5 782 c.637_splice c.e5+1 p.P212_splice AGPS_ENST00000409888.1_Intron NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 212 FAD-binding PCMH-type. ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TTTTATGGCCAAGTAAGTTTT 0.308000 24 59 0 0 0.706142 0 0 FGL2 10875 broad.mit.edu 37 7 76825816 76825816 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:76825816G>A ENST00000248598.5 - 2 1132 c.1100C>T c.(1099-1101)cCt>cTt p.P367L CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 367 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 GTTCCCAGAAGGATATCGATC 0.398000 41 102 0 0 0.870114 0 0 LRRC30 339291 broad.mit.edu 37 18 7231352 7231352 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:7231352G>C ENST00000383467.2 + 1 230 c.216G>C c.(214-216)gaG>gaC p.E72D NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 72 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GCTTGTCCGAGGTCCAGAAAC 0.612000 11 61 0 0 0.387290 0 0 NTSR1 4923 broad.mit.edu 37 20 61391429 61391429 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:61391429G>C ENST00000370501.3 + 4 1438 c.1067G>C c.(1066-1068)aGc>aCc p.S356T NTSR1_ENST00000482259.1_3'UTR NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 356 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) TTCTACGTCAGCTCCACCATC 0.582000 31 137 0 0 0.804634 0 0 IL23R 149233 broad.mit.edu 37 1 67685346 67685346 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:67685346T>C ENST00000347310.5 + 7 1059 c.888T>C c.(886-888)tgT>tgC p.C296C IL23R_ENST00000473881.1_3'UTR|C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Silent_p.C296C|IL23R_ENST00000395227.1_Silent_p.C41C NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 296 Fibronectin type-III 2. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 AAGTGAGATGTCAAGAAACAG 0.358000 37 64 0 0 0.847076 0 0 MUC16 94025 broad.mit.edu 37 19 9049156 9049156 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9049156G>T ENST00000397910.4 - 5 32678 c.32475C>A c.(32473-32475)gtC>gtA p.V10825V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10827 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGATGCGTGACCAATGAAA 0.488000 33 95 1.26612e-14 1.79063e-14 0.779181 1 0 DUSP4 1846 broad.mit.edu 37 8 29195937 29195937 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:29195937C>A ENST00000240100.2 - 3 1050 c.661G>T c.(661-663)Ggc>Tgc p.G221C DUSP4_ENST00000240101.2_Missense_Mutation_p.G130C NM_001394.6 NP_001385.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 221 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GCCGTGATGCCCAGGGCGTCC 0.562000 26 18 7.26314e-15 1.03241e-14 0.717897 1 0 TUBA3E 112714 broad.mit.edu 37 2 130949676 130949676 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:130949676T>G ENST00000312988.7 - 5 1181 c.1081A>C c.(1081-1083)Aca>Cca p.T361P NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 361 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) GGGACCACTGTGGGGGGCTGG 0.582000 16 52 0 0 0.729181 0 0 YAE1D1 57002 broad.mit.edu 37 7 39606023 39606023 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:39606023G>T ENST00000432096.2 + 1 19 c.6G>T c.(4-6)tcG>tcT p.S2S YAE1D1_ENST00000223273.2_Silent_p.S2S|YAE1D1_ENST00000448268.1_Silent_p.S2S Q9NRH1 CG036_HUMAN Yae1 domain containing 1 2 CGGTGATGTCGTGGGTTCAAG 0.637000 23 30 5.45727e-16 7.96477e-16 0.729181 1 0 PGLYRP3 114771 broad.mit.edu 37 1 153279620 153279620 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:153279620T>C ENST00000290722.1 - 2 231 c.179A>G c.(178-180)cAg>cGg p.Q60R NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 60 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCAAACGCTCTGCTGCTGGCA 0.622000 5 18 0 0 0.217242 0 0 GRB10 2887 broad.mit.edu 37 7 50683919 50683919 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:50683919C>A ENST00000403097.1 - 10 1734 c.954G>T c.(952-954)aaG>aaT p.K318N GRB10_ENST00000398812.2_Missense_Mutation_p.K324N|GRB10_ENST00000406641.1_Missense_Mutation_p.K266N|GRB10_ENST00000398810.2_Missense_Mutation_p.K266N|GRB10_ENST00000402578.1_Missense_Mutation_p.K266N|GRB10_ENST00000401949.1_Missense_Mutation_p.K324N|GRB10_ENST00000439599.1_Missense_Mutation_p.K318N|GRB10_ENST00000357271.5_Intron|GRB10_ENST00000335866.3_Missense_Mutation_p.K266N|GRB10_ENST00000407526.1_Missense_Mutation_p.K266N|GRB10_ENST00000402497.1_Missense_Mutation_p.K266N Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 324 PH. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) TTGAAGTTCCCTTGGTGGAGC 0.463000 Russell-Silver syndrome 19 66 9.39395e-14 1.29679e-13 0.706142 1 0 ZFP36L1 677 broad.mit.edu 37 14 69256951 69256951 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:69256951C>A ENST00000439696.2 - 2 617 c.316G>T c.(316-318)Ggg>Tgg p.G106W ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.G106W NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 106 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGGCCGCCCCCGGGCTGCTTC 0.672000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 56 9.16793e-09 1.10004e-08 0.520397 1 0 LPAR4 2846 broad.mit.edu 37 X 78011208 78011208 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:78011208C>A ENST00000435339.2 + 2 1247 c.842C>A c.(841-843)aCt>aAt p.T281N LPAR4_ENST00000373301.2_Missense_Mutation_p.T281N NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 281 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 CAAGCTATTACTAATTGCTTT 0.418000 20 13 2.37509e-13 3.24673e-13 0.592651 1 0 SLC45A1 50651 broad.mit.edu 37 1 8390598 8390598 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:8390598G>A ENST00000471889.1 + 5 1430 c.1045G>A c.(1045-1047)Ggc>Agc p.G349S SLC45A1_ENST00000377479.2_Missense_Mutation_p.G383S|SLC45A1_ENST00000289877.8_Missense_Mutation_p.G349S|SLC45A1_ENST00000481265.1_3'UTR Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 349 carbohydrate transport integral to membrane symporter activity p.G349S(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GCCCAAGTACGGCAGCTTCAT 0.642000 29 39 0 0 0.729181 0 0 SYNE2 23224 broad.mit.edu 37 14 64554189 64554189 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:64554189A>T ENST00000357395.3 + 58 11767 c.623A>T c.(622-624)tAt>tTt p.Y208F SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.Y208F|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3828 Actin-binding.|CH 2. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTTTCTTATTATGTTACAGTT 0.313000 27 132 0 0 0.750413 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820307 35820307 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:35820307G>C ENST00000399992.1 + 3 189 c.90G>C c.(88-90)agG>agC p.R30S MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR A2A368 MAGBG_HUMAN melanoma antigen family B, 16 0 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CACCCACAAGGGTCATCATGT 0.537000 20 24 0 0 0.681144 0 0 FAM107B 83641 broad.mit.edu 37 10 14816274 14816274 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:14816274G>T ENST00000181796.2 - 1 622 c.389C>A c.(388-390)cCa>cAa p.P130Q NM_031453.2 NP_113641.2 Q9H098 F107B_HUMAN family with sequence similarity 107, member B 0 breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AATAATTGATGGTCTGGGGAT 0.582000 35 43 6.97489e-18 1.05321e-17 0.804634 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885714 88885714 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:88885714C>A ENST00000319675.3 - 1 582 c.486G>T c.(484-486)tcG>tcT p.S162S NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 162 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CTATGAACAGCGACGCTGGGA 0.577000 64 51 9.10829e-22 1.47643e-21 0.870114 1 0 FAM135B 51059 broad.mit.edu 37 8 139158249 139158249 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:139158249C>T ENST00000395297.1 - 15 3663 c.3493G>A c.(3493-3495)Ggg>Agg p.G1165R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1165 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCAGGGAGCCCCAGTTCTATG 0.438000 HNSCC(54;0.14) 12 120 0 0 0.500413 0 0 KHDC1 80759 broad.mit.edu 37 6 73952169 73952169 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:73952169C>T ENST00000423730.3 - 2 507 c.72G>A c.(70-72)atG>atA p.M24I KHDC1_ENST00000257765.5_Missense_Mutation_p.M24I|KHDC1_ENST00000370384.3_Missense_Mutation_p.M97I TGTGAAACACCATTGGTGCAT 0.527000 25 86 0 0 0.760397 0 0 ZNF812 729648 broad.mit.edu 37 19 9801928 9801928 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9801928A>T ENST00000457674.2 - 5 769 c.251T>A c.(250-252)gTg>gAg p.V84E ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 84 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTTTCCATCCACTGTAGCTTC 0.383000 7 22 0 0 0.248553 0 0 NUP133 55746 broad.mit.edu 37 1 229588285 229588285 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:229588285G>A ENST00000261396.3 - 22 3177 c.3086C>T c.(3085-3087)cCa>cTa p.P1029L NUP133_ENST00000366679.1_Missense_Mutation_p.P958L|NUP133_ENST00000537506.1_Missense_Mutation_p.P1013L NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1029 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) AATGAGTTGTGGTGCAGTCAA 0.453000 20 62 0 0 0.681144 0 0 HEXA 3073 broad.mit.edu 37 15 72637881 72637881 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:72637881C>A ENST00000268097.5 - 13 1935 c.1432G>T c.(1432-1434)Ggg>Tgg p.G478W RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.G478W|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_3'UTR|HEXA_ENST00000566304.1_Missense_Mutation_p.G489W NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 478 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 GCAACAGCCCCTGCTCTGGGC 0.542000 25 19 2.80507e-11 3.66358e-11 0.760397 1 0 BRD9 65980 broad.mit.edu 37 5 878500 878500 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:878500C>A ENST00000323510.4 - 8 952 c.953G>T c.(952-954)gGa>gTa p.G318V BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.G298V|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000467963.1_Missense_Mutation_p.G414V|BRD9_ENST00000483173.1_Missense_Mutation_p.G361V Q9H8M2 BRD9_HUMAN bromodomain containing 9 414 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TGTCTCATCTCCGTAGGCTGA 0.582000 19 130 2.47511e-08 2.9482e-08 0.729181 1 0 MMP8 4317 broad.mit.edu 37 11 102584178 102584178 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:102584178A>T ENST00000236826.3 - 10 1403 c.1305T>A c.(1303-1305)caT>caA p.H435Q NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 435 Hemopexin-like 4. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) CACTGAAGACATGGAAGAAAT 0.353000 33 63 0 0 0.779181 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048632 42048632 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:42048632T>A ENST00000372584.1 - 3 2851 c.1837A>T c.(1837-1839)Aca>Tca p.T613S HIVEP3_ENST00000429157.2_Missense_Mutation_p.T613S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.T613S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.T613S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 613 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TTGGAGGCTGTGTCTTTGCTG 0.527000 61 59 0 0 0.870114 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45721554 45721554 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:45721554G>T ENST00000413988.1 - 7 604 c.564C>A c.(562-564)cgC>cgA p.R188R EXOC3L2_ENST00000252482.3_Silent_p.R188R NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 188 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) GCCACTTCCGGCGCATCAGCT 0.637000 4 18 5.4927e-09 6.63927e-09 0.307466 1 0 LAMA2 3908 broad.mit.edu 37 6 129498915 129498915 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:129498915C>A ENST00000421865.2 + 10 1420 c.1371C>A c.(1369-1371)gcC>gcA p.A457A NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 457 Laminin EGF-like 3. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATCGGTGTGCCAGGGGCTACA 0.488000 30 23 1.08312e-15 1.57144e-15 0.740014 1 0 KLK5 25818 broad.mit.edu 37 19 51453249 51453249 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:51453249C>A ENST00000336334.3 - 3 549 c.197G>T c.(196-198)cGc>cTc p.R66L KLK5_ENST00000391809.2_Missense_Mutation_p.R66L|KLK5_ENST00000593428.1_Missense_Mutation_p.R66L NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 66 epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) ATTGATGATGCGGCTGCTGCT 0.642000 9 22 2.74318e-10 3.47859e-10 0.335167 1 0 OGDH 4967 broad.mit.edu 37 7 44714856 44714856 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:44714856G>T ENST00000222673.5 + 8 1057 c.1015G>T c.(1015-1017)Gca>Tca p.A339S OGDH_ENST00000443864.2_Missense_Mutation_p.A339S|OGDH_ENST00000439616.2_Missense_Mutation_p.A189S|OGDH_ENST00000543843.1_Missense_Mutation_p.A290S|OGDH_ENST00000449767.1_Missense_Mutation_p.A335S|OGDH_ENST00000447398.1_Missense_Mutation_p.A350S|OGDH_ENST00000444676.1_Missense_Mutation_p.A354S NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 339 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) AAAGCTGGAGGCAGCTGATGA 0.517000 7 34 5.4927e-09 6.63927e-09 0.307466 1 0 L3MBTL1 26013 broad.mit.edu 37 20 42164825 42164825 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:42164825G>T ENST00000444063.1 + 15 1876 c.1744G>T c.(1744-1746)Gag>Tag p.E582* L3MBTL1_ENST00000373135.3_Nonsense_Mutation_p.E582*|L3MBTL1_ENST00000418998.1_Nonsense_Mutation_p.E650*|L3MBTL1_ENST00000427442.2_Nonsense_Mutation_p.E650*|L3MBTL1_ENST00000373134.1_Nonsense_Mutation_p.E587* Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 582 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 CCCACTGGCTGAGAGGAACCA 0.612000 10 15 1.08611e-07 1.27134e-07 0.387290 1 0 GIMAP2 26157 broad.mit.edu 37 7 150389753 150389753 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:150389753C>A ENST00000223293.5 + 3 473 c.379C>A c.(379-381)Cag>Aag p.Q127K NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 127 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAGGCTGCACAGAGGGTGAA 0.552000 8 53 6.40141e-05 6.98497e-05 0.387290 1 0 NTNG1 22854 broad.mit.edu 37 1 107867410 107867410 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:107867410G>A ENST00000370067.1 + 3 1380 c.753G>A c.(751-753)aaG>aaA p.K251K NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370072.3_Silent_p.K251K|NTNG1_ENST00000370071.2_Silent_p.K251K|NTNG1_ENST00000370068.1_Silent_p.K251K|NTNG1_ENST00000370074.4_Silent_p.K251K|NTNG1_ENST00000370070.2_Silent_p.K251K|NTNG1_ENST00000542803.1_Silent_p.K251K|NTNG1_ENST00000370073.2_Silent_p.K251K|NTNG1_ENST00000370061.3_Silent_p.K251K|NTNG1_ENST00000370065.1_Silent_p.K251K|NTNG1_ENST00000370066.1_Silent_p.K251K Q9Y2I2 NTNG1_HUMAN netrin G1 251 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ATACAACCAAGAAACTCAGAG 0.453000 15 50 0 0 0.479597 0 0 MUC16 94025 broad.mit.edu 37 19 9002550 9002550 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9002550G>T ENST00000397910.4 - 51 40469 c.40266C>A c.(40264-40266)atC>atA p.I13422I MUC16_ENST00000380951.5_Silent_p.I63I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13424 SEA 9. 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 CCAGCTCAGTGATGCCGTGGG 0.582000 38 170 3.21987e-24 5.40223e-24 0.870114 1 0 SLC39A4 55630 broad.mit.edu 37 8 145640452 145640452 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:145640452G>T ENST00000276833.5 - 3 938 c.635C>A c.(634-636)gCc>gAc p.A212D SLC39A4_ENST00000301305.3_Missense_Mutation_p.A237D NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 237 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) GTCACTGTGGGCCTCCCTGCC 0.672000 16 127 1.96292e-10 2.49399e-10 0.592651 1 0 ASB15 142685 broad.mit.edu 37 7 123267195 123267195 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:123267195G>T ENST00000451558.1 + 11 1250 c.729G>T c.(727-729)ggG>ggT p.G243G ASB15_ENST00000434204.1_Silent_p.G243G|ASB15_ENST00000451215.1_Silent_p.G243G|ASB15_ENST00000275699.3_Silent_p.G243G|ASB15_ENST00000540573.1_Silent_p.G243G Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 243 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 CGGATGATGGGGCGTCGGTGC 0.502000 99 109 1.75222e-57 3.44995e-57 0.870114 1 0 GABBR2 9568 broad.mit.edu 37 9 101168390 101168390 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:101168390C>G ENST00000259455.2 - 8 1729 c.1270G>C c.(1270-1272)Ggg>Cgg p.G424R NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 424 G -> E (in Ref. 5; AAD30389). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TTAATGGTCCCCATTCTCTCC 0.333000 18 37 0 0 0.667858 0 0 MAP2 4133 broad.mit.edu 37 2 210559241 210559241 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:210559241G>C ENST00000360351.4 + 7 2853 c.2347G>C c.(2347-2349)Gag>Cag p.E783Q MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E779Q NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 783 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TACTCAAGCGGAGATATCATG 0.448000 38 50 0 0 0.834066 0 0 ZNF98 148198 broad.mit.edu 37 19 22585651 22585651 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:22585651G>C ENST00000357774.5 - 3 314 c.193C>G c.(193-195)Ctg>Gtg p.L65V ZNF98_ENST00000601553.1_Missense_Mutation_p.L65V NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CCTTGCTCCAGACAGGTGATC 0.413000 21 65 0 0 0.681144 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49362833 49362833 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:49362833C>T ENST00000263265.6 - 7 1140 c.585G>A c.(583-585)ccG>ccA p.P195P PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Silent_p.P195P NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 195 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GAGTCACTTCCGGTGATTCTG 0.687000 24 88 0 0 0.693898 0 0 EVX2 344191 broad.mit.edu 37 2 176946939 176946939 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:176946939G>T ENST00000308618.4 - 2 802 c.666C>A c.(664-666)gcC>gcA p.A222A NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 222 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TGAGTGCCGCGGCCAGCTCGC 0.627000 22 18 1.04121e-07 1.22316e-07 0.693898 1 0 POSTN 10631 broad.mit.edu 37 13 38153024 38153024 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:38153024A>T ENST00000379747.4 - 15 2036 c.1919T>A c.(1918-1920)cTg>cAg p.L640Q POSTN_ENST00000379749.4_Missense_Mutation_p.L640Q|POSTN_ENST00000379743.4_Missense_Mutation_p.L640Q|POSTN_ENST00000379742.4_Missense_Mutation_p.L640Q|POSTN_ENST00000541481.1_Missense_Mutation_p.L640Q|POSTN_ENST00000541179.1_Missense_Mutation_p.L640Q NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 640 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TATTTCCAGCAGTTGATCATT 0.244000 10 17 0 0 0.479597 0 0 SLIT2 9353 broad.mit.edu 37 4 20543120 20543120 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:20543120G>T ENST00000504154.1 + 20 2273 c.2021G>T c.(2020-2022)tGg>tTg p.W674L SLIT2_ENST00000503823.1_Missense_Mutation_p.W666L|SLIT2_ENST00000503837.1_Missense_Mutation_p.W670L|SLIT2_ENST00000273739.5_Missense_Mutation_p.W678L NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 674 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TACCTGGCTTGGTTGGGAGAG 0.453000 10 39 0.000442599 0.000469634 0.335167 1 0 DSG4 147409 broad.mit.edu 37 18 28986153 28986153 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:28986153T>G ENST00000359747.4 + 12 1779 c.1750T>G c.(1750-1752)Tta>Gta p.L584V RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.L584V|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 584 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AATGGTGCAGTTATATGCCTG 0.488000 4 64 0 0 0.184627 0 0 NMS 129521 broad.mit.edu 37 2 101086975 101086975 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:101086975C>A ENST00000376865.1 + 1 32 c.25C>A c.(25-27)Cct>Act p.P9T NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 9 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 TCCCCAGTTCCCTCTCATCTT 0.542000 30 159 3.21399e-22 5.23574e-22 0.804634 1 0 GPR174 84636 broad.mit.edu 37 X 78427235 78427235 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:78427235C>A ENST00000276077.1 + 1 767 c.731C>A c.(730-732)gCa>gAa p.A244E NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 244 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 ATTTGCTTTGCACCTTATCAT 0.398000 HNSCC(63;0.18) 36 20 1.03484e-13 1.42453e-13 0.812448 1 0 TMC3 342125 broad.mit.edu 37 15 81637296 81637296 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:81637296T>A ENST00000558726.1 - 13 1467 c.1332A>T c.(1330-1332)gcA>gcT p.A444A RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.A443A Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 443 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 CTGTCCTGGTTGCAAAGAAGG 0.507000 3 9 0 0 0.115264 0 0 PDE4D 5144 broad.mit.edu 37 5 59064181 59064181 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:59064181G>A ENST00000507116.1 - 1 290 c.155C>T c.(154-156)cCc>cTc p.P52L PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.P52L|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000340635.6_Intron NM_001197218.1 NP_001184147.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 Pro-rich. signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) AGAGAGCTTGGGAGAAACCGA 0.527000 16 69 0 0 0.520397 0 0 FANCM 57697 broad.mit.edu 37 14 45633769 45633769 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:45633769G>T ENST00000267430.5 + 10 1873 c.e10+1 FANCM_ENST00000556036.1_Splice_Site|FANCM_ENST00000542564.2_Splice_Site NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AGAGGAACGTGTAAGTAGAGC 0.423000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 14 0.000602214 0.00063762 0.184627 1 0 AIM1L 55057 broad.mit.edu 37 1 26663747 26663747 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:26663747C>G ENST00000527815.1 - 9 1195 c.1146G>C c.(1144-1146)cgG>cgC p.R382R AIM1L_ENST00000308182.5_Silent_p.R211R|AIM1L_ENST00000522993.1_5'UTR NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 211 Beta/gamma crystallin 'Greek key' 8. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TGCTTACCGTCCGGATGACCC 0.602000 19 141 0 0 0.667858 0 0 PZP 5858 broad.mit.edu 37 12 9334659 9334659 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:9334659G>T ENST00000261336.2 - 14 1629 c.1601C>A c.(1600-1602)gCa>gAa p.A534E PZP_ENST00000381997.2_Missense_Mutation_p.A403E NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GAACATTCGTGCAATGGGGGC 0.428000 30 21 4.31634e-10 5.42096e-10 0.760397 1 0 SYNE2 23224 broad.mit.edu 37 14 64634094 64634094 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:64634094G>T ENST00000357395.3 + 92 17048 c.5904G>T c.(5902-5904)ctG>ctT p.L1968L SYNE2_ENST00000555002.1_Silent_p.L2217L|SYNE2_ENST00000554584.1_Silent_p.L5458L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.L1968L|SYNE2_ENST00000358025.3_Silent_p.L5583L|SYNE2_ENST00000344113.4_Silent_p.L5583L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5583 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCACGGCACTGGAGCGCTGCA 0.473000 5 24 0.00116845 0.00122524 0.217242 1 0 FASN 2194 broad.mit.edu 37 17 80043140 80043140 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:80043140T>A ENST00000306749.2 - 24 4479 c.4261A>T c.(4261-4263)Agc>Tgc p.S1421C NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1421 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CAGCGGAAGCTGGTATCGTCC 0.682000 7 21 0 0 0.307466 0 0 PREX2 80243 broad.mit.edu 37 8 68968167 68968167 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:68968167G>T ENST00000288368.4 + 10 1473 c.1196G>T c.(1195-1197)cGa>cTa p.R399L PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 399 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ATCAAAGACCGAAAGAGAAAA 0.398000 50 50 9.59449e-18 1.44654e-17 0.870114 1 0 OR3A4P 390756 broad.mit.edu 37 17 3214027 3214027 + RNA SNP G G C rs113175375 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:3214027G>C ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA GCATGAGCTGGGGAATCCAGC 0.567000 50 58 0 0 0.870114 0 0 CTNNA3 29119 broad.mit.edu 37 10 67829202 67829202 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:67829202C>A ENST00000433211.1 - 15 2197 c.2023G>T c.(2023-2025)Gag>Tag p.E675* CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.E675*|CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.E14* NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 675 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 GCAACTTGCTCAGCAATCTTT 0.368000 31 51 4.14481e-20 6.49342e-20 0.819951 1 0 C6orf203 51250 broad.mit.edu 37 6 107361247 107361247 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:107361247A>G ENST00000443043.1 + 3 973 c.298A>G c.(298-300)Aaa>Gaa p.K100E C6orf203_ENST00000489790.1_3'UTR|C6orf203_ENST00000311381.5_Missense_Mutation_p.K95E|C6orf203_ENST00000405204.2_Missense_Mutation_p.K95E NM_001142470.1 NP_001135942.1 Q9P0P8 CF203_HUMAN chromosome 6 open reading frame 203 95 large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1) 8 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) AAAATCTACTAAAAAGTCTCT 0.383000 17 18 0 0 0.608945 0 0 C11orf87 399947 broad.mit.edu 37 11 109294493 109294493 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:109294493C>G ENST00000327419.6 + 2 537 c.134C>G c.(133-135)aCc>aGc p.T45S RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 45 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 GGCAGCGGCACCTGCATCACG 0.652000 10 17 0 0 0.387290 0 0 DSC1 1823 broad.mit.edu 37 18 28710578 28710578 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:28710578C>A ENST00000257198.5 - 16 2845 c.2584G>T c.(2584-2586)Gta>Tta p.V862L RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 862 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CAGCAACCTACTGAGCCGGCC 0.443000 63 62 1.74474e-33 3.17417e-33 0.870114 1 0 PRSS1 5644 broad.mit.edu 37 7 142460282 142460282 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142460282C>A ENST00000486171.1 + 5 514 c.496_splice c.e5-1 p.A166_splice PRSS1_ENST00000311737.7_Splice_Site_p.A152_splice P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 152 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ATCCTCACAGCCGACTACCCA 0.512000 83 359 3.35115e-56 6.56517e-56 0.870114 1 0 MXRA5 25878 broad.mit.edu 37 X 3242051 3242051 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:3242051C>G ENST00000217939.6 - 5 1829 c.1675G>C c.(1675-1677)Gtg>Ctg p.V559L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 559 Ig-like C2-type 1. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCATCCCTCACTTGAGCAATG 0.527000 6 8 0 0 0.248553 0 0 MLIP 90523 broad.mit.edu 37 6 54013880 54013880 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:54013880G>T ENST00000514921.1 + 5 2324 c.2211G>T c.(2209-2211)aaG>aaT p.K737N MLIP_ENST00000274897.5_Missense_Mutation_p.K213N|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.K748N Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 213 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CAAGCTACAAGGCTTTTGCAG 0.353000 45 96 5.08636e-23 8.41157e-23 0.870114 1 0 ZNF780B 163131 broad.mit.edu 37 19 40541988 40541988 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:40541988G>A ENST00000434248.1 - 5 843 c.778C>T c.(778-780)Cgt>Tgt p.R260C ZNF780B_ENST00000221355.6_Missense_Mutation_p.R112C NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 260 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) TTTGAGCTACGATTAAAAGAC 0.378000 29 80 0 0 0.750413 0 0 SNAI2 6591 broad.mit.edu 37 8 49832790 49832790 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:49832790T>A ENST00000396822.1 - 3 647 c.290A>T c.(289-291)aAg>aTg p.K97M SNAI2_ENST00000020945.1_Missense_Mutation_p.K97M O43623 SNAI2_HUMAN snail family zinc finger 2 97 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) ACTGTGGTCCTTGGAGGAGGT 0.537000 86 91 0 0 0.870114 0 0 MAML3 55534 broad.mit.edu 37 4 140810417 140810417 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:140810417C>A ENST00000398940.1 - 4 752 c.753G>T c.(751-753)ggG>ggT p.G251G MAML3_ENST00000509479.2_Intron|MAML3_ENST00000327122.5_Intron Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 0 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGCAATTAGACCCCACTACAG 0.458000 23 132 7.07758e-08 8.33931e-08 0.681144 1 0 LSM7 51690 broad.mit.edu 37 19 2324192 2324192 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:2324192C>A ENST00000252622.9 - 3 150 c.101G>T c.(100-102)aGt>aTt p.S34I LSM7_ENST00000589532.1_5'UTR NM_016199.2 NP_057283.1 Q9UK45 LSM7_HUMAN LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) 34 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding kidney(1)|urinary_tract(1) 2 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) CAGGATTCCACTGGCTTGGAG 0.627000 4 6 8.12818e-05 8.83968e-05 0.248553 1 0 COL21A1 81578 broad.mit.edu 37 6 55922568 55922568 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:55922568G>T ENST00000244728.5 - 30 3158 c.2761C>A c.(2761-2763)Cat>Aat p.H921N COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.H287N|COL21A1_ENST00000535941.1_Missense_Mutation_p.H921N|COL21A1_ENST00000370819.1_Missense_Mutation_p.H918N NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 921 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GGTTTTCCATGGTCTCCATCT 0.527000 7 14 0.00307968 0.00320032 0.278610 1 0 NPY 4852 broad.mit.edu 37 7 24331291 24331291 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:24331291C>A ENST00000407573.1 + 5 569 c.279C>A c.(277-279)gaC>gaA p.D93E NPY_ENST00000242152.2_Missense_Mutation_p.D93E|NPY_ENST00000405982.1_Missense_Mutation_p.D93E P01303 NPY_HUMAN neuropeptide Y 93 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 GGCTTGAAGACCCTGCAATGT 0.438000 20 86 7.41945e-09 8.92425e-09 0.693898 1 0 SRCIN1 80725 broad.mit.edu 37 17 36704837 36704837 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:36704837T>C ENST00000264659.7 - 17 3450 c.3226A>G c.(3226-3228)Atc>Gtc p.I1076V SRCIN1_ENST00000578925.1_Missense_Mutation_p.I1110V|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 948 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 TCGTCCTTGATGGCCGAGGCC 0.662000 83 97 0 0 0.870114 0 0 NKAIN2 154215 broad.mit.edu 37 6 124676489 124676489 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:124676489C>A ENST00000368417.1 + 3 329 c.269C>A c.(268-270)tCa>tAa p.S90* NKAIN2_ENST00000368416.1_Nonsense_Mutation_p.S90*|NKAIN2_ENST00000546092.1_Nonsense_Mutation_p.S90*|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Nonsense_Mutation_p.S75* NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 90 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) GGGGACCTCTCAAAGGTAATT 0.438000 40 48 2.51966e-14 3.53545e-14 0.870114 1 0 AKAP6 9472 broad.mit.edu 37 14 33165317 33165317 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:33165317G>T ENST00000280979.4 + 9 3170 c.e9+1 AKAP6_ENST00000557354.1_Splice_Site|AKAP6_ENST00000557272.1_Splice_Site NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCTTTACAAGGTTAGAGCTAC 0.473000 24 41 7.26314e-15 1.03241e-14 0.717897 1 0 PCDH7 5099 broad.mit.edu 37 4 30725906 30725906 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:30725906G>C ENST00000361762.2 + 1 3870 c.2862G>C c.(2860-2862)gtG>gtC p.V954V PCDH7_ENST00000543491.1_Silent_p.V954V NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 954 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TTGTCACTGTGGAGGCTTCTA 0.453000 45 52 0 0 0.870114 0 0 OTOF 9381 broad.mit.edu 37 2 26781373 26781373 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:26781373C>A ENST00000272371.2 - 1 193 c.67G>T c.(67-69)Gtg>Ttg p.V23L OTOF_ENST00000403946.3_Missense_Mutation_p.V23L NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 23 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGAAAGTCACTTTGGCGATC 0.652000 24 109 2.12542e-12 2.83052e-12 0.706142 1 0 MAEL 84944 broad.mit.edu 37 1 166990373 166990373 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:166990373G>T ENST00000367872.4 + 11 1337 c.1093G>T c.(1093-1095)Gaa>Taa p.E365* MAEL_ENST00000367870.2_Nonsense_Mutation_p.E334*|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 365 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TTCTAATGAGGAACAAAGATC 0.363000 10 59 0.00244969 0.00255377 0.457914 1 0 CXCL12 6387 broad.mit.edu 37 10 44873302 44873302 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:44873302G>C ENST00000395794.2 - 4 361 c.318C>G c.(316-318)gcC>gcG p.A106A CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron NM_001178134.1 NP_001171605.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) AGGGATGCAGGGCACGAGCCC 0.622000 8 2 0 0 0.278610 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54649010 54649010 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:54649010G>T ENST00000230640.5 + 14 1700 c.1446G>T c.(1444-1446)acG>acT p.T482T SKIV2L2_ENST00000545714.1_Silent_p.T381T NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 482 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TATTTGCCACGGAGACCTTTG 0.313000 30 46 6.48837e-15 9.29683e-15 0.853193 1 0 AEBP1 165 broad.mit.edu 37 7 44152432 44152432 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:44152432C>T ENST00000223357.3 + 18 2798 c.2493C>T c.(2491-2493)cgC>cgT p.R831R AEBP1_ENST00000450684.2_Silent_p.R406R NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 831 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AGCCCTACCGCGGAGGCTGCC 0.672000 15 64 0 0 0.539581 0 0 ALB 213 broad.mit.edu 37 4 74275095 74275095 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:74275095G>T ENST00000295897.4 + 5 595 c.506G>T c.(505-507)aGa>aTa p.R169I ALB_ENST00000503124.1_Missense_Mutation_p.R19I|ALB_ENST00000401494.3_Missense_Mutation_p.R54I|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.R169I|ALB_ENST00000505649.1_3'UTR NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 169 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) ATTGCCAGAAGACATCCTTAC 0.353000 30 39 4.14481e-20 6.49342e-20 0.819951 1 0 ADNP 23394 broad.mit.edu 37 20 49510110 49510110 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:49510110C>T ENST00000396029.3 - 5 1708 c.1141G>A c.(1141-1143)Ggg>Agg p.G381R ADNP_ENST00000371602.4_Missense_Mutation_p.G381R|ADNP_ENST00000349014.3_Missense_Mutation_p.G381R|ADNP_ENST00000396032.3_Missense_Mutation_p.G381R NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 381 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 TGCTCTGACCCAAGCCCATAA 0.517000 17 86 0 0 0.557998 0 0 SCN3A 6328 broad.mit.edu 37 2 166003333 166003333 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:166003333T>C ENST00000360093.3 - 12 2078 c.1587A>G c.(1585-1587)gaA>gaG p.E529E SCN3A_ENST00000283254.7_Silent_p.E529E|SCN3A_ENST00000409101.3_Silent_p.E529E NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 529 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TGACGCTGTCTTCAGATTCGG 0.433000 5 120 0 0 0.184627 0 0 LRP2 4036 broad.mit.edu 37 2 170101382 170101382 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:170101382C>A ENST00000263816.3 - 22 3536 c.3251G>T c.(3250-3252)tGg>tTg p.W1084L LRP2_ENST00000443831.1_Missense_Mutation_p.W947L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1084 LDL-receptor class A 9. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTCACAGCGCCAGTGTGCAGG 0.502000 32 140 4.11147e-13 5.58534e-13 0.788014 1 0 SLITRK3 22865 broad.mit.edu 37 3 164906700 164906700 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:164906700G>T ENST00000475390.1 - 2 2362 c.1919C>A c.(1918-1920)tCa>tAa p.S640* SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.S640* O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 640 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTCATAAGGTGATGCACTGGT 0.532000 HNSCC(40;0.11) 12 29 0.000219431 0.000235766 0.457914 1 0 CDHR2 54825 broad.mit.edu 37 5 176008578 176008578 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:176008578G>T ENST00000510636.1 + 17 2327 c.2053G>T c.(2053-2055)Gtg>Ttg p.V685L CDHR2_ENST00000506348.1_Missense_Mutation_p.V685L|CDHR2_ENST00000261944.5_Missense_Mutation_p.V685L NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 685 Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CACCATCACTGTGGAGGTAAG 0.637000 27 37 9.80776e-20 1.5292e-19 0.706142 1 0 CILP2 148113 broad.mit.edu 37 19 19654684 19654684 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:19654684G>T ENST00000586018.1 + 8 1450 c.1348G>T c.(1348-1350)Gag>Tag p.E450* CILP2_ENST00000291495.4_Nonsense_Mutation_p.E444* Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 444 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GCGCCGTCTGGAGAGAAGGGA 0.701000 10 7 2.17888e-05 2.40289e-05 0.335167 1 0 ANKRD11 29123 broad.mit.edu 37 16 89348373 89348373 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:89348373C>A ENST00000301030.4 - 9 5037 c.4577G>T c.(4576-4578)gGc>gTc p.G1526V ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1526V NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1526 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTTGGCATCGCCGAGCCTCGG 0.592000 14 69 0.0332995 0.0338163 0.520397 1 0 ARHGAP6 395 broad.mit.edu 37 X 11308580 11308580 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:11308580G>A ENST00000380732.3 - 2 606 c.607C>T c.(607-609)Cag>Tag p.Q203* ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron O43182 RHG06_HUMAN Rho GTPase activating protein 6 196 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCTAAGATCTGAAGATCATAC 0.363000 22 25 0 0 0.681144 0 0 GJC3 349149 broad.mit.edu 37 7 99526463 99526463 + Splice_Site SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:99526463C>G ENST00000312891.2 - 1 780 c.781_splice c.e1+1 p.V261_splice NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 261 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TCCTTCTCACCTGCTTCTTGA 0.488000 37 54 0 0 0.870114 0 0 CROCC 9696 broad.mit.edu 37 1 17265550 17265550 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:17265550C>A ENST00000375541.5 + 12 1590 c.1521C>A c.(1519-1521)ccC>ccA p.P507P CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 507 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCCGTTCACCCCGCCGAGGCC 0.746000 4 26 0.00909568 0.00932367 0.150653 1 0 GPATCH2L 55668 broad.mit.edu 37 14 76621204 76621204 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:76621204G>T ENST00000261530.7 + 2 564 c.498G>T c.(496-498)caG>caT p.Q166H GPATCH2L_ENST00000312858.5_Missense_Mutation_p.Q166H|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.Q166H|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.Q166H NM_017926.2 NP_060396.2 G patch domain containing 2-like CTAAGAAGCAGCGTCTGTCCC 0.512000 8 20 7.48243e-07 8.56943e-07 0.335167 1 0 CSHL1 1444 broad.mit.edu 37 17 61987661 61987661 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:61987661A>T ENST00000450719.3 - 3 287 c.50T>A c.(49-51)cTg>cAg p.L17Q CSHL1_ENST00000561003.1_Missense_Mutation_p.L28Q|CSHL1_ENST00000438387.2_Missense_Mutation_p.L28Q|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.L17Q|CSHL1_ENST00000309894.5_Missense_Mutation_p.L111Q|CSHL1_ENST00000259003.10_Missense_Mutation_p.L49Q Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 111 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 GATGAGCAGCAGGGAGATGTG 0.627000 33 45 0 0 0.812448 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104961438 104961438 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:104961438G>T ENST00000372582.1 + 7 1607 c.851G>T c.(850-852)gGa>gTa p.G284V IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G284V NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 284 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGGATGAAAGGAGAAAAGTTT 0.418000 63 25 2.54232e-27 4.40085e-27 0.870114 1 0 AQP10 89872 broad.mit.edu 37 1 154295835 154295835 + Splice_Site SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:154295835G>C ENST00000484864.1 + 4 525 c.489_splice c.e4+1 p.Q163_splice AQP10_ENST00000324978.3_Splice_Site_p.Q163_splice|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 163 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCCTGGATCAGGTAAGTGTGA 0.567000 76 100 0 0 0.870114 0 0 NPY 4852 broad.mit.edu 37 7 24329179 24329179 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:24329179G>A ENST00000407573.1 + 4 540 c.250G>A c.(250-252)Gaa>Aaa p.E84K NPY_ENST00000242152.2_Missense_Mutation_p.E84K|NPY_ENST00000405982.1_Missense_Mutation_p.E84K P01303 NPY_HUMAN neuropeptide Y 84 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 9 AGAAAGCACAGAAAATGTTCC 0.463000 5 96 0 0 0.278610 0 0 CSMD3 114788 broad.mit.edu 37 8 113960056 113960056 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:113960056C>A ENST00000297405.5 - 9 1715 c.1471G>T c.(1471-1473)Gaa>Taa p.E491* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E451*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E491*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.E387* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 491 Sushi 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTTTCTGGTTCTCCTGGATCT 0.299000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 120 1.2644e-06 1.44236e-06 0.592651 1 0 COL15A1 1306 broad.mit.edu 37 9 101748253 101748253 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:101748253G>T ENST00000375001.3 + 3 930 c.507G>T c.(505-507)caG>caT p.Q169H NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 169 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TGATTGTCCAGGGTGAGGAAG 0.597000 33 50 1.5731e-28 2.76207e-28 0.859065 1 0 THPO 7066 broad.mit.edu 37 3 184090702 184090702 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:184090702A>T ENST00000204615.7 - 6 875 c.661T>A c.(661-663)Tgg>Agg p.W221R THPO_ENST00000421442.2_Missense_Mutation_p.V182E|THPO_ENST00000477594.1_5'UTR|THPO_ENST00000445696.2_Missense_Mutation_p.W217R|EIF2B5_ENST00000444495.1_Intron NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 221 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCCTGCTGCCACTTCAGAAGC 0.522000 20 28 0 0 0.575678 0 0 NT5C1A 84618 broad.mit.edu 37 1 40124892 40124892 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:40124892C>A ENST00000235628.1 - 6 1007 c.1008G>T c.(1006-1008)ggG>ggT p.G336G NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 336 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCTCCTGAGCCCCAGCCACAT 0.597000 17 37 1.02788e-11 1.35601e-11 0.520397 1 0 HIST1H3D 8351 broad.mit.edu 37 6 26197475 26197475 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:26197475C>A ENST00000377831.5 - 2 457 c.4G>T c.(4-6)Gct>Tct p.A2S HIST1H3D_ENST00000356476.2_Missense_Mutation_p.A2S NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 2 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) TTGGTACGAGCCATTGCGAAC 0.542000 15 89 3.52763e-06 3.97745e-06 0.520397 1 0 KLHL38 340359 broad.mit.edu 37 8 124664983 124664983 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:124664983T>C ENST00000325995.7 - 1 207 c.184A>G c.(184-186)Atg>Gtg p.M62V CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 62 BTB. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CTGCAGAACATAGCCCTGAAG 0.597000 11 73 0 0 0.411799 0 0 CSE1L 1434 broad.mit.edu 37 20 47688840 47688840 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:47688840C>A ENST00000262982.2 + 9 909 c.786C>A c.(784-786)ggC>ggA p.G262G CSE1L_ENST00000396192.3_Intron|CSE1L_ENST00000542325.1_Silent_p.G45G NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 262 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) AGGAAGCCGGCTTATTGGAGC 0.393000 13 59 3.45872e-05 3.80362e-05 0.500413 1 0 OR5AC2 81050 broad.mit.edu 37 3 97806733 97806733 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:97806733C>G ENST00000358642.2 + 1 717 c.717C>G c.(715-717)gcC>gcG p.A239A NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 GAAGCAAAGCCTTCTCCACAT 0.418000 14 34 0 0 0.500413 0 0 ACE 1636 broad.mit.edu 37 17 61561794 61561794 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:61561794C>T ENST00000290866.4 + 12 1837 c.1813C>T c.(1813-1815)Cca>Tca p.P605S ACE_ENST00000428043.1_Missense_Mutation_p.P605S NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 605 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GTACTTCCAGCCAGTCACCCA 0.652000 5 24 0 0 0.248553 0 0 FBN2 2201 broad.mit.edu 37 5 127730865 127730865 + Missense_Mutation SNP C C A rs150790914 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:127730865C>A ENST00000508053.1 - 15 2155 c.1181G>T c.(1180-1182)cGc>cTc p.R394L FBN2_ENST00000262464.4_Missense_Mutation_p.R394L|FBN2_ENST00000508989.1_Missense_Mutation_p.R361L P35556 FBN2_HUMAN fibrillin 2 394 TB 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCCCCAGCAGCGGCCAGGCTC 0.562000 22 21 1.40151e-16 2.08264e-16 0.592651 1 0 CFHR3 10878 broad.mit.edu 37 1 196749043 196749043 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:196749043C>T ENST00000471440.2 + 3 444 c.370C>T c.(370-372)Cag>Tag p.Q124* CFHR3_ENST00000391985.3_Nonsense_Mutation_p.Q124*|CFHR3_ENST00000367425.4_Nonsense_Mutation_p.Q124* complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 TCCAAAAGCGCAGACCACAGT 0.448000 14 50 0 0 0.457914 0 0 OR7D4 125958 broad.mit.edu 37 19 9325115 9325115 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9325115C>A ENST00000308682.2 - 1 427 c.399G>T c.(397-399)acG>acT p.T133T NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 133 T -> M (impaired response to androstenone and androstadienone; when associated with W-88; dbSNP:rs5020278). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TCATGATGACCGTGTAGTGCA 0.483000 18 47 7.87624e-14 1.09343e-13 0.639603 1 0 MUC4 4585 broad.mit.edu 37 3 195515689 195515689 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:195515689G>C ENST00000463781.3 - 2 3221 c.2762C>G c.(2761-2763)aCt>aGt p.T921S MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T921S|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 926 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CAGGCTGATAGTGTCAGACCC 0.582000 11 87 0 0 0.457914 0 0 OR52E8 390079 broad.mit.edu 37 11 5878369 5878369 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:5878369C>A ENST00000537935.1 - 1 595 c.564G>T c.(562-564)atG>atT p.M188I TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCAATGCCCATGTGCTCAC 0.478000 48 53 1.48341e-19 2.30557e-19 0.870114 1 0 OR14I1 401994 broad.mit.edu 37 1 248845536 248845536 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248845536G>T ENST00000342623.3 - 1 93 c.70C>A c.(70-72)Ctg>Atg p.L24M NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 CCGGCGTGCAGCACCTGCAGC 0.493000 12 40 1.15088e-07 1.34555e-07 0.500413 1 0 SVOPL 136306 broad.mit.edu 37 7 138347843 138347843 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:138347843C>A ENST00000419765.3 - 4 354 c.321G>T c.(319-321)ctG>ctT p.L107L SVOPL_ENST00000288513.5_5'UTR|SVOPL_ENST00000436657.1_5'UTR|SVOPL_ENST00000421622.1_Intron NM_001139456.1 NP_001132928.1 Q8N434 SVOPL_HUMAN SVOP-like 107 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 ATCTGTCAGCCAGGAGGCCAA 0.458000 16 47 8.81451e-21 1.39878e-20 0.575678 1 0 CCDC67 159989 broad.mit.edu 37 11 93127763 93127763 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:93127763C>A ENST00000298050.3 + 10 1280 c.1180C>A c.(1180-1182)Ctg>Atg p.L394M CCDC67_ENST00000525646.1_Missense_Mutation_p.L136M NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 394 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AGCTGCCCTTCTGGAAAAACA 0.383000 7 19 3.09899e-07 3.59534e-07 0.307466 1 0 NFAM1 150372 broad.mit.edu 37 22 42807430 42807430 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:42807430G>A ENST00000329021.5 - 2 471 c.434C>T c.(433-435)aCc>aTc p.T145I NM_145912.5 NP_666017.1 Q8NET5 NFAM1_HUMAN NFAT activating protein with ITAM motif 1 145 Ig-like V-type. B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 CAGGATGAAGGTGCCGCTGCC 0.577000 6 11 0 0 0.217242 0 0 NAB1 4664 broad.mit.edu 37 2 191537847 191537847 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:191537847A>G ENST00000337386.5 + 6 1435 c.974A>G c.(973-975)gAt>gGt p.D325G NAB1_ENST00000484774.1_Intron|NAB1_ENST00000357215.5_Missense_Mutation_p.D325G|NAB1_ENST00000545490.1_Missense_Mutation_p.D95G|NAB1_ENST00000409581.1_Missense_Mutation_p.D325G|NAB1_ENST00000409641.1_Missense_Mutation_p.D325G NM_005966.3 NP_005957.2 Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) 325 Necessary for nuclear localization (By similarity). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) GGAGAAAGAGATGAATTATCC 0.323000 27 42 0 0 0.812448 0 0 F11 2160 broad.mit.edu 37 4 187207644 187207644 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:187207644G>C ENST00000264692.4 + 13 1733 c.1400G>C c.(1399-1401)tGg>tCg p.W467S RP11-215A19.1_ENST00000505103.1_RNA|F11_ENST00000403665.2_Missense_Mutation_p.W519S P03951 FA11_HUMAN coagulation factor XI 519 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GTGACTGGATGGGGGTACAGA 0.398000 54 78 0 0 0.870114 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23816192 23816192 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:23816192T>A ENST00000264867.2 - 8 1033 c.914A>T c.(913-915)aAc>aTc p.N305I PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 305 Interaction with PPARG. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GTTATCTTGGTTGGCTTTATG 0.428000 8 39 0 0 0.307466 0 0 DMXL2 23312 broad.mit.edu 37 15 51792375 51792375 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:51792375C>A ENST00000251076.5 - 18 3333 c.3046G>T c.(3046-3048)Gtt>Ttt p.V1016F DMXL2_ENST00000543779.2_Missense_Mutation_p.V1016F|DMXL2_ENST00000449909.3_Intron NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1016 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) CAAGTTGTAACCACTAAATAA 0.333000 22 21 6.21321e-17 9.26788e-17 0.639603 1 0 DCHS2 54798 broad.mit.edu 37 4 155249299 155249299 + Missense_Mutation SNP C C A rs142035311 by1000genomes TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:155249299C>A ENST00000357232.3 - 12 2598 c.2599G>T c.(2599-2601)Gca>Tca p.A867S DCHS2_ENST00000339452.1_Missense_Mutation_p.A1322S NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 867 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GGATCCTTTGCAAACACAGTT 0.343000 20 87 2.44723e-14 3.43628e-14 0.681144 1 0 OR1C1 26188 broad.mit.edu 37 1 247920787 247920787 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:247920787A>C ENST00000408896.2 - 1 1195 c.922T>G c.(922-924)Tgc>Ggc p.C308G NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAGACTGTGCACTTGAGAAGC 0.398000 30 97 0 0 0.788014 0 0 C11orf57 55216 broad.mit.edu 37 11 111951224 111951224 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:111951224C>G ENST00000532163.1 + 4 941 c.175C>G c.(175-177)Ctt>Gtt p.L59V C11orf57_ENST00000530104.1_Missense_Mutation_p.L88V|C11orf57_ENST00000280352.9_Missense_Mutation_p.L88V|C11orf57_ENST00000420986.2_Missense_Mutation_p.L88V|C11orf57_ENST00000393047.3_Missense_Mutation_p.L88V Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 88 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) AGATGATTTTCTTAAGGCTAA 0.378000 4 88 0 0 0.184627 0 0 FAM131A 131408 broad.mit.edu 37 3 184062306 184062306 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:184062306G>C ENST00000310585.4 + 3 1920 c.556G>C c.(556-558)Ggg>Cgg p.G186R FAM131A_ENST00000450976.1_Missense_Mutation_p.G132R|FAM131A_ENST00000453072.1_Missense_Mutation_p.G132R|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Missense_Mutation_p.G132R|FAM131A_ENST00000418281.1_Missense_Mutation_p.G94R|FAM131A_ENST00000383847.2_Missense_Mutation_p.G217R Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 186 extracellular region breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTGCCCCTGGGGCCGCACCT 0.632000 56 92 0 0 0.870114 0 0 ESRP2 80004 broad.mit.edu 37 16 68264813 68264813 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:68264813G>T ENST00000473183.2 - 13 2367 c.1829C>A c.(1828-1830)cCc>cAc p.P610H ESRP2_ENST00000565858.1_Missense_Mutation_p.P620H Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 620 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 AACAGGGGTGGGGGCAGCAGG 0.582000 6 128 3.59834e-05 3.94831e-05 0.217242 1 0 ZNF536 9745 broad.mit.edu 37 19 30935540 30935540 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:30935540G>A ENST00000355537.3 + 2 1218 c.1071G>A c.(1069-1071)gcG>gcA p.A357A NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCAGCCAGGCGTGGTTCCTCA 0.652000 32 120 0 0 0.834066 0 0 RNF31 55072 broad.mit.edu 37 14 24619890 24619890 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:24619890G>T ENST00000324103.6 + 8 1601 c.1281G>T c.(1279-1281)tgG>tgT p.W427C RNF31_ENST00000559275.1_Missense_Mutation_p.W276C|RNF31_ENST00000382687.3_Missense_Mutation_p.W276C NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 427 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GCCCTGGCTGGGTGTGTGTTA 0.587000 95 127 6.51881e-58 1.28607e-57 0.870114 1 0 MSH4 4438 broad.mit.edu 37 1 76272757 76272757 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:76272757G>T ENST00000263187.3 + 3 623 c.519G>T c.(517-519)atG>atT p.M173I NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 173 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 AAATAGGAATGGCAAGTATTG 0.383000 Mismatch excision repair (MMR) 45 70 1.86633e-21 2.99805e-21 0.870114 1 0 PLCH1 23007 broad.mit.edu 37 3 155199374 155199374 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:155199374G>C ENST00000460012.1 - 23 4708 c.4351C>G c.(4351-4353)Cct>Gct p.P1451A PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1451A|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1489A|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1451A Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1489 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GATTTGCAAGGACTAGGCAGT 0.468000 7 86 0 0 0.307466 0 0 SYT6 148281 broad.mit.edu 37 1 114641766 114641766 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:114641766C>A ENST00000393296.1 - 5 1391 c.1314G>T c.(1312-1314)ccG>ccT p.P438P SYT6_ENST00000369547.1_Silent_p.P353P Q5T7P8 SYT6_HUMAN synaptotagmin VI 438 C2 2. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity p.P353P(1) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCATGTTTTCCGGGGGAATGT 0.483000 64 115 9.25274e-37 1.71674e-36 0.870114 1 0 TTC40 54777 broad.mit.edu 37 10 134626392 134626392 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:134626392C>A ENST00000368586.5 - 55 7498 c.7398G>T c.(7396-7398)caG>caT p.Q2466H TTC40_ENST00000263170.5_Missense_Mutation_p.Q627H NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 627 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CCTGCTCCCACTGGGCCTGGC 0.577000 15 17 1.52009e-12 2.03821e-12 0.479597 1 0 LOC645752 645752 broad.mit.edu 37 15 78212154 78212154 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:78212154C>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA ATGTTCGAGCCTGCCCAAAGC 0.547000 65 60 1.34568e-36 2.49204e-36 0.870114 1 0 LHX1 3975 broad.mit.edu 37 17 35300213 35300213 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:35300213C>A ENST00000254457.5 + 5 2417 c.1006C>A c.(1006-1008)Ccg>Acg p.P336T RP11-445F12.2_ENST00000607336.1_RNA NM_005568.3 NP_005559.2 P48742 LHX1_HUMAN LIM homeobox 1 336 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) GGGCCACCACCCGTCGAGCGA 0.731000 5 16 0.014758 0.0150571 0.184627 1 0 BPI 671 broad.mit.edu 37 20 36948612 36948612 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:36948612G>C ENST00000262865.4 + 7 793 c.704G>C c.(703-705)gGa>gCa p.G235A BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 235 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCTGTGGCTGGAATCAACTAT 0.507000 30 36 0 0 0.819951 0 0 FSTL5 56884 broad.mit.edu 37 4 162376270 162376270 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:162376270A>G ENST00000306100.5 - 15 2163 c.1727T>C c.(1726-1728)cTg>cCg p.L576P FSTL5_ENST00000536695.1_Missense_Mutation_p.L575P|FSTL5_ENST00000427802.2_Missense_Mutation_p.L566P|FSTL5_ENST00000379164.4_Missense_Mutation_p.L575P NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 576 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCCACTGGCCAGGGTAATTAC 0.403000 23 42 0 0 0.740014 0 0 ADSS 159 broad.mit.edu 37 1 244580977 244580977 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:244580977C>A ENST00000366535.3 - 10 1339 c.1023G>T c.(1021-1023)ttG>ttT p.L341F NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 341 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) AAACGAGGTCCAACCAGCCAC 0.363000 15 45 2.32078e-09 2.85088e-09 0.479597 1 0 PRRC2A 7916 broad.mit.edu 37 6 31602958 31602958 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:31602958G>A ENST00000376033.2 + 22 5444 c.5210G>A c.(5209-5211)cGa>cAa p.R1737Q PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1737Q NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1737 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GGCACAGAACGATCACAGCGT 0.607000 7 120 0 0 0.307466 0 0 MYH8 4626 broad.mit.edu 37 17 10323346 10323346 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:10323346C>T ENST00000403437.2 - 3 293 c.199G>A c.(199-201)Gaa>Aaa p.E67K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 67 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCTCCACCTTCAGTCTTTACG 0.423000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 103 100 0 0 0.870114 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135926215 135926215 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:135926215G>T ENST00000264158.8 + 24 2853 c.2810G>T c.(2809-2811)cGg>cTg p.R937L RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.R944L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.R893L|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 937 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) CCTGCTGGCCGGGAATTCATT 0.557000 22 95 9.80776e-20 1.5292e-19 0.706142 1 0 ELL2 22936 broad.mit.edu 37 5 95242315 95242315 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:95242315G>A ENST00000237853.4 - 5 1002 c.653C>T c.(652-654)gCc>gTc p.A218V ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 218 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TTTCTTGTAGGCCTTCAGGGC 0.493000 49 51 0 0 0.870114 0 0 PHRF1 57661 broad.mit.edu 37 11 608231 608231 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:608231C>A ENST00000264555.5 + 14 2903 c.2775C>A c.(2773-2775)agC>agA p.S925R PHRF1_ENST00000533464.1_Missense_Mutation_p.S921R|PHRF1_ENST00000416188.2_Missense_Mutation_p.S924R|PHRF1_ENST00000413872.2_Missense_Mutation_p.S923R NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 925 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CCACAGAGAGCCAGGGCCTGG 0.697000 6 8 0.00116845 0.00122524 0.217242 1 0 ZNF516 9658 broad.mit.edu 37 18 74074514 74074514 + Splice_Site SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:74074514T>A ENST00000443185.2 - 8 3750 c.e8-2 ZNF516_ENST00000524431.2_Splice_Site NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GTCTCTCCCCTGGGTGAGAAA 0.463000 9 10 0 0 0.335167 0 0 RTTN 25914 broad.mit.edu 37 18 67864942 67864942 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:67864942C>A ENST00000255674.6 - 6 897 c.611G>T c.(610-612)tGg>tTg p.W204L RTTN_ENST00000437017.1_Missense_Mutation_p.W204L|RTTN_ENST00000454359.1_Missense_Mutation_p.W204L NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 204 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) ACAGGTGTTCCAGATTAAAGT 0.358000 16 35 6.94344e-10 8.6375e-10 0.539581 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33588773 33588773 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:33588773G>T ENST00000504830.1 - 18 3131 c.2796C>A c.(2794-2796)ccC>ccA p.P932P ADAMTS12_ENST00000352040.3_Silent_p.P847P|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 932 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGAGGGTCTTGGGCTTCAGCA 0.632000 HNSCC(64;0.19) 111 69 3.52255e-68 6.99168e-68 0.870114 1 0 RYR2 6262 broad.mit.edu 37 1 237659886 237659886 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:237659886G>T ENST00000366574.2 + 20 2354 c.2037G>T c.(2035-2037)gtG>gtT p.V679V RYR2_ENST00000360064.6_Silent_p.V677V|RYR2_ENST00000542537.1_Silent_p.V663V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 679 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATTGATGGTGGACCACACAG 0.493000 16 28 3.41278e-10 4.30823e-10 0.520397 1 0 SPDL1 54908 broad.mit.edu 37 5 169021409 169021409 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:169021409A>T ENST00000265295.4 + 6 972 c.693A>T c.(691-693)gtA>gtT p.V231V SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 AAGCTCGTGTAGCAAATCAAG 0.358000 33 43 0 0 0.812448 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290594 78290594 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:78290594C>A ENST00000300584.3 - 13 2799 c.2800G>T c.(2800-2802)Gag>Tag p.E934* TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_3'UTR NM_015079.5|NM_144572.1 NP_055894.6|NP_653173.1 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 934 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GCCTCCAGCTCGGTCAGCTCC 0.617000 7 6 0.000274275 0.000292451 0.307466 1 0 OVOS2 144203 broad.mit.edu 37 12 31267722 31267722 + RNA SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:31267722A>G ENST00000542490.1 - 0 757 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 TTATCTTTATACTCTATGTAG 0.318000 5 25 0 0 0.217242 0 0 AATK 9625 broad.mit.edu 37 17 79094916 79094916 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:79094916G>A ENST00000326724.4 - 11 2844 c.2820C>T c.(2818-2820)gaC>gaT p.D940D AATK_ENST00000417379.1_Silent_p.D837D NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 940 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) AGTTCTCGGTGTCATAGCCAC 0.647000 4 14 0 0 0.248553 0 0 SSPO 23145 broad.mit.edu 37 7 149519663 149519663 + RNA SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:149519663C>T ENST00000378016.2 + 0 13153 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCTGGTGCAGCAGCGCTACCG 0.697000 10 13 0 0 0.435327 0 0 SSTR5 6755 broad.mit.edu 37 16 1129194 1129194 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:1129194C>A ENST00000293897.4 + 1 414 c.326C>A c.(325-327)cCc>cAc p.P109H SSTR5_ENST00000397547.2_Missense_Mutation_p.P109H|SSTR5_ENST00000562758.1_Missense_Mutation_p.P109H NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 109 P -> S (in dbSNP:rs4988487). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) CCCTTCGGCCCCGTCCTGTGC 0.622000 20 18 2.98393e-07 3.468e-07 0.639603 1 0 FARP2 9855 broad.mit.edu 37 2 242343281 242343281 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:242343281G>C ENST00000264042.3 + 3 392 c.222G>C c.(220-222)tgG>tgC p.W74C FARP2_ENST00000373287.4_Missense_Mutation_p.W74C|FARP2_ENST00000545004.1_Missense_Mutation_p.W74C NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 74 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) CACAAGTGTGGAAGCGTTTAA 0.453000 38 55 0 0 0.870114 0 0 TRAV5 28688 broad.mit.edu 37 14 22217887 22217887 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:22217887C>A ENST00000390427.3 + 0 250 GAAACAAGACCAAAGACTCAC 0.433000 15 37 6.72482e-11 8.66765e-11 0.479597 1 0 KLF14 136259 broad.mit.edu 37 7 130418064 130418064 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:130418064C>A ENST00000310992.4 - 1 824 c.797G>T c.(796-798)cGg>cTg p.R266L NM_138693.2 NP_619638.1 Q8TD94 KLF14_HUMAN Kruppel-like factor 14 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(18;0.0435) GTGGTCGCTCCGGGAGAACTG 0.632000 11 22 2.68362e-12 3.56907e-12 0.411799 1 0 PADI4 23569 broad.mit.edu 37 1 17668440 17668440 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:17668440G>T ENST00000375448.4 + 7 681 c.655G>T c.(655-657)Ggc>Tgc p.G219C AC004824.2_ENST00000602074.1_Intron NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 219 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) TCTCCTAGGGGGCAAACTGTC 0.577000 7 16 1.26484e-09 1.56157e-09 0.278610 1 0 KIAA1683 80726 broad.mit.edu 37 19 18375740 18375740 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:18375740C>A ENST00000392413.3 - 3 2825 c.2610G>T c.(2608-2610)gaG>gaT p.E870D KIAA1683_ENST00000600328.2_Missense_Mutation_p.E870D|KIAA1683_ENST00000600359.2_Missense_Mutation_p.E824D NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 870 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTACCGTGTCCTCCTGGCAGG 0.642000 8 26 4.68919e-08 5.54511e-08 0.361761 1 0 FMO1 2326 broad.mit.edu 37 1 171254536 171254536 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:171254536C>A ENST00000354841.4 + 8 1583 c.1452C>A c.(1450-1452)gcC>gcA p.A484A FMO1_ENST00000402921.2_Silent_p.A421A|FMO1_ENST00000367750.3_Silent_p.A484A|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 484 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGGAAGGAGCCAGAAATGCCA 0.493000 8 32 0.0477658 0.048357 0.307466 1 0 PLTP 5360 broad.mit.edu 37 20 44533604 44533604 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:44533604G>T ENST00000542937.1 - 8 1453 c.919C>A c.(919-921)Cag>Aag p.Q307K PLTP_ENST00000372420.1_Missense_Mutation_p.Q199K|PLTP_ENST00000372431.3_Missense_Mutation_p.Q287K|PLTP_ENST00000477313.1_Missense_Mutation_p.Q287K|PLTP_ENST00000420868.2_Missense_Mutation_p.Q192K|PLTP_ENST00000354050.4_Missense_Mutation_p.Q235K P55058 PLTP_HUMAN phospholipid transfer protein 287 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) AGCAACAGCTGCAGGGCCCCC 0.592000 8 80 4.36969e-10 5.47746e-10 0.435327 1 0 WBSCR17 64409 broad.mit.edu 37 7 70881041 70881041 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:70881041C>A ENST00000333538.5 + 4 1390 c.756C>A c.(754-756)acC>acA p.T252T WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 252 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGGAATTCACCGCTGGCTGGT 0.567000 31 98 5.20837e-25 8.85197e-25 0.840704 1 0 HIPK3 10114 broad.mit.edu 37 11 33361044 33361044 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:33361044A>G ENST00000303296.4 + 6 1882 c.1577A>G c.(1576-1578)aAt>aGt p.N526S HIPK3_ENST00000525975.1_Missense_Mutation_p.N526S|HIPK3_ENST00000379016.3_Missense_Mutation_p.N526S|HIPK3_ENST00000456517.1_Missense_Mutation_p.N526S NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 526 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 CCTTTTGTTAATATGAAACAT 0.333000 32 82 0 0 0.870114 0 0 HDAC9 9734 broad.mit.edu 37 7 18993771 18993771 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:18993771G>A ENST00000406451.3 + 24 3081 c.2931G>A c.(2929-2931)ctG>ctA p.L977L HDAC9_ENST00000441542.2_Silent_p.L980L|HDAC9_ENST00000432645.2_Silent_p.L977L|HDAC9_ENST00000401921.1_Silent_p.L936L NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 977 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TCTTGCAGCTGGAGCCACTTG 0.348000 5 10 0 0 0.217242 0 0 ZNF267 10308 broad.mit.edu 37 16 31927349 31927349 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:31927349G>T ENST00000300870.10 + 4 1988 c.1779G>T c.(1777-1779)gtG>gtT p.V593V RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 593 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 GTCTTACTGTGCATCGGCGAA 0.383000 13 36 2.61681e-11 3.41998e-11 0.457914 1 0 MSC 9242 broad.mit.edu 37 8 72755914 72755914 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:72755914C>A ENST00000325509.4 - 1 789 c.500G>T c.(499-501)cGc>cTc p.R167L RP11-383H13.1_ENST00000537896.1_Missense_Mutation_p.A93E|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_5'UTR NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 167 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) GTTCTCATAGCGGTCCTCCTG 0.662000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 87 4.26978e-12 5.64796e-12 0.654019 1 0 REG1P 5969 broad.mit.edu 37 2 79363196 79363196 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:79363196G>T ENST00000444841.1 - 0 1142 CACTGATAATGGCAGTTCTAG 0.512000 26 20 2.20474e-14 3.10243e-14 0.788014 1 0 FNDC1 84624 broad.mit.edu 37 6 159655434 159655434 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:159655434C>A ENST00000297267.9 + 11 4090 c.3890C>A c.(3889-3891)tCc>tAc p.S1297Y FNDC1_ENST00000340366.6_Missense_Mutation_p.S1234Y NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1297 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCGATGCTGTCCTTGCGCCAG 0.622000 12 46 0.000219431 0.000235766 0.457914 1 0 FRAS1 80144 broad.mit.edu 37 4 79462002 79462002 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:79462002G>C ENST00000264895.6 + 74 12203 c.11763G>C c.(11761-11763)ttG>ttC p.L3921F NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3916 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGGTGTTTTTGGTGGCTTGTT 0.498000 4 34 0 0 0.184627 0 0 LINC00842 643650 broad.mit.edu 37 10 47133384 47133384 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:47133384C>A ENST00000422732.2 - 0 435 NR_033957.1 CCGCCAATAGCCACCTTGGTT 0.483000 18 104 1.2644e-06 1.44236e-06 0.592651 1 0 CACNA1B 774 broad.mit.edu 37 9 140968491 140968491 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:140968491C>A ENST00000277549.5 + 34 4981 c.2412C>A c.(2410-2412)ttC>ttA p.F804L CACNA1B_ENST00000277551.2_Missense_Mutation_p.F1610L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F1611L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F1609L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F1608L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.F1610L Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1610 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCATGCTGTTCTTCATCTACG 0.647000 72 72 5.70515e-31 1.02369e-30 0.870114 1 0 LRRCC1 85444 broad.mit.edu 37 8 86037083 86037083 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:86037083T>C ENST00000414626.2 + 7 2010 c.1121T>C c.(1120-1122)tTa>tCa p.L374S LRRCC1_ENST00000360375.3_Missense_Mutation_p.L394S Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 394 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AGCTCATCTTTAGCAAACTGT 0.308000 7 143 0 0 0.307466 0 0 PTGER3 5733 broad.mit.edu 37 1 71418623 71418623 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:71418623C>T ENST00000356595.4 - 4 1434 c.1224G>A c.(1222-1224)gtG>gtA p.V408V PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron NM_198718.1 NP_942011.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) TTCTGGTGTACACATTAATGC 0.423000 31 167 0 0 0.769981 0 0 DGKD 8527 broad.mit.edu 37 2 234359615 234359615 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:234359615C>G ENST00000264057.2 + 17 2098 c.2086C>G c.(2086-2088)Cta>Gta p.L696V DGKD_ENST00000409813.3_Missense_Mutation_p.L652V NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 696 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GAGTCTGTCCCTAGGCAGTTC 0.557000 12 155 0 0 0.411799 0 0 XDH 7498 broad.mit.edu 37 2 31611154 31611154 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:31611154C>T ENST00000379416.3 - 7 551 c.503G>A c.(502-504)gGa>gAa p.G168E XDH_ENST00000491727.1_5'UTR NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 168 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCCACAGCATCCACCATCCTA 0.438000 12 63 0 0 0.520397 0 0 FBXW2 26190 broad.mit.edu 37 9 123538418 123538418 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:123538418C>A ENST00000373926.3 - 5 959 c.772G>T c.(772-774)Ggg>Tgg p.G258W FBXW2_ENST00000340778.5_Missense_Mutation_p.G193W|FBXW2_ENST00000493559.1_5'UTR NM_012164.3 NP_036296.2 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 258 proteolysis protein binding|ubiquitin-protein ligase activity ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 4 AGGCATGTCCCAGCAGATAAA 0.488000 63 64 5.45122e-27 9.39487e-27 0.870114 1 0 ARHGAP18 93663 broad.mit.edu 37 6 129920408 129920408 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:129920408C>A ENST00000368149.2 - 12 1754 c.1666G>T c.(1666-1668)Gct>Tct p.A556S NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 556 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CGGTCATAAGCCATTTTCTTC 0.294000 9 11 0.00448238 0.00465059 0.307466 1 0 RHCG 51458 broad.mit.edu 37 15 90023551 90023551 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:90023551A>T ENST00000268122.4 - 4 679 c.611T>A c.(610-612)cTa>cAa p.L204Q RHCG_ENST00000544600.1_Missense_Mutation_p.L204Q NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 204 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) GCTCTGCTCTAGGTTGCGTCG 0.557000 73 67 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179613368 179613368 + Missense_Mutation SNP C C A rs149720053 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179613368C>A ENST00000360870.5 - 46 13981 c.13759G>T c.(13759-13761)Gat>Tat p.D4587Y TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 715 Ig-like 26. 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) AATTTCACATCTGTGTGTTTT 0.318000 46 89 1.00798e-23 1.67542e-23 0.870114 1 0 PRICKLE2 166336 broad.mit.edu 37 3 64148737 64148737 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:64148737C>A ENST00000295902.6 - 3 798 c.213G>T c.(211-213)ctG>ctT p.L71L PRICKLE2_ENST00000564377.1_Silent_p.L127L NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 71 PET. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GCTTGATTCGCAGTTTCTCTC 0.468000 152 101 4.67834e-91 9.34239e-91 0.870114 1 0 CTNND2 1501 broad.mit.edu 37 5 11199609 11199609 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:11199609C>A ENST00000304623.8 - 11 2115 c.1926G>T c.(1924-1926)gtG>gtT p.V642V CTNND2_ENST00000511377.1_Silent_p.V551V|CTNND2_ENST00000458100.2_Silent_p.V209V|CTNND2_ENST00000503622.1_Silent_p.V305V|CTNND2_ENST00000359640.2_Silent_p.V642V|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 642 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGAGTAACCTCACCAGTGCTG 0.448000 100 68 2.56345e-68 5.09834e-68 0.870114 1 0 MAN2B2 23324 broad.mit.edu 37 4 6580155 6580155 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:6580155T>A ENST00000285599.3 + 3 357 c.321T>A c.(319-321)ttT>ttA p.F107L MAN2B2_ENST00000504248.1_Missense_Mutation_p.F107L NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 107 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 GCCTGGAATTTGTCATCGGAG 0.597000 7 31 0 0 0.307466 0 0 EPHA7 2045 broad.mit.edu 37 6 94066534 94066534 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:94066534C>A ENST00000369303.4 - 5 1409 c.1225G>T c.(1225-1227)Gct>Tct p.A409S NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 409 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GTATAATTAGCGTGGGCTAGC 0.483000 17 15 6.94344e-10 8.6375e-10 0.539581 1 0 PROZ 8858 broad.mit.edu 37 13 113826154 113826154 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:113826154C>G ENST00000342783.4 + 9 1011 c.1004C>G c.(1003-1005)tCg>tGg p.S335W PROZ_ENST00000375547.2_Missense_Mutation_p.S313W NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 313 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) CTGGGCAACTCGCTGACCACG 0.632000 21 32 0 0 0.654019 0 0 ABCA13 154664 broad.mit.edu 37 7 48314412 48314412 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:48314412G>C ENST00000435803.1 + 17 5173 c.5149G>C c.(5149-5151)Gca>Cca p.A1717P NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1717 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GGAAAAATTTGCAGACAGCTC 0.393000 13 79 0 0 0.500413 0 0 KIF1B 23095 broad.mit.edu 37 1 10364665 10364665 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:10364665C>T ENST00000377093.4 + 21 3575 c.3422C>T c.(3421-3423)tCa>tTa p.S1141L KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.S1141L|KIF1B_ENST00000377086.1_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AGACAGTTCTCAGCACCCAAT 0.473000 12 42 0 0 0.457914 0 0 RXFP1 59350 broad.mit.edu 37 4 159443139 159443139 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:159443139G>T ENST00000307765.5 + 1 262 c.11G>T c.(10-12)gGt>gTt p.G4V RXFP1_ENST00000423548.1_Missense_Mutation_p.G4V|RXFP1_ENST00000472969.1_3'UTR|RXFP1_ENST00000470033.1_Missense_Mutation_p.G4V|RXFP1_ENST00000460056.2_Intron|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000343542.5_Missense_Mutation_p.G4V NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 4 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) ATGACATCTGGTTCTGTCTTC 0.348000 13 18 3.99206e-14 5.57751e-14 0.557998 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156638339 156638339 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:156638339T>C ENST00000296518.7 + 8 1810 c.1601T>C c.(1600-1602)gTa>gCa p.V534A GUCY1A3_ENST00000393832.3_Missense_Mutation_p.V276A|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V534A|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V534A|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V534A|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V534A|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V534A Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 534 Guanylate cyclase. GDAYCVA -> AMPIVWL (in Ref. 1; CAA47145). blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GCCTATTGTGTAGCTGGGGGA 0.428000 30 97 0 0 0.812448 0 0 DOPEY2 9980 broad.mit.edu 37 21 37650653 37650653 + Splice_Site SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:37650653A>T ENST00000399151.3 + 30 6054 c.5969_splice c.e30+1 p.H1990_splice NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1990 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCCTGTGTTCAGTAAGATATG 0.468000 23 23 0 0 0.740014 0 0 PXDN 7837 broad.mit.edu 37 2 1653187 1653187 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:1653187C>A ENST00000252804.4 - 17 2415 c.2365G>T c.(2365-2367)Ggg>Tgg p.G789W NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 789 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGGGCGTGCCCGTTGTACAGT 0.652000 13 115 0.00074312 0.000785116 0.539581 1 0 BEND4 389206 broad.mit.edu 37 4 42122120 42122120 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:42122120T>A ENST00000502486.1 - 5 1917 c.1338A>T c.(1336-1338)acA>acT p.T446T BEND4_ENST00000504360.1_Intron NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 446 BEN. NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 TTTCGGGACCTGTCTCTCCTG 0.502000 6 28 0 0 0.217242 0 0 KCTD3 51133 broad.mit.edu 37 1 215768784 215768784 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:215768784G>T ENST00000259154.4 + 10 1198 c.904G>T c.(904-906)Gtg>Ttg p.V302L NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 302 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GAAAGTGGGAGTGTGGAATGC 0.398000 16 61 1.64113e-05 1.81496e-05 0.592651 1 0 FAT1 2195 broad.mit.edu 37 4 187549392 187549392 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:187549392C>T ENST00000441802.2 - 9 4935 c.4726G>A c.(4726-4728)Gcc>Acc p.A1576T NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1576 Cadherin 14. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GAGCCAACGGCTGCCGATTCA 0.527000 HNSCC(5;0.00058) 10 20 0 0 0.411799 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668668 176668668 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:176668668C>T ENST00000367662.3 + 8 4343 c.3179C>T c.(3178-3180)cCa>cTa p.P1060L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1060 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CGCGATCCCCCATTTGCCAGT 0.567000 72 103 0 0 0.870114 0 0 TRIB2 28951 broad.mit.edu 37 2 12880610 12880610 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:12880610G>T ENST00000155926.4 + 3 2141 c.722G>T c.(721-723)gGg>gTg p.G241V TRIB2_ENST00000381465.2_Missense_Mutation_p.G105V NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 241 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGGAGCCTGGGGGTGATGCTG 0.582000 22 32 3.28513e-13 4.46896e-13 0.667858 1 0 STAT5B 6777 broad.mit.edu 37 17 40370233 40370233 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:40370233C>A ENST00000293328.3 - 9 1273 c.1105G>T c.(1105-1107)Gtg>Ttg p.V369L NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 369 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GTGGCCTTCACCTGGGGGGGG 0.577000 20 74 7.87624e-14 1.09343e-13 0.639603 1 0 RIN3 79890 broad.mit.edu 37 14 93125681 93125681 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:93125681G>T ENST00000216487.7 + 7 2361 c.2202G>T c.(2200-2202)ccG>ccT p.P734P RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 734 VPS9. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCAGCGTGCCGGAGGTGCCCA 0.552000 24 46 4.4004e-07 5.08715e-07 0.654019 1 0 CSMD2 114784 broad.mit.edu 37 1 34011693 34011693 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:34011693G>T ENST00000373381.4 - 57 9220 c.9044C>A c.(9043-9045)tCa>tAa p.S3015* NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2990 Sushi 23. 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) GGTGCGCTCTGACGATCCCCG 0.607000 27 32 6.57855e-14 9.15215e-14 0.847076 1 0 ZNF827 152485 broad.mit.edu 37 4 146770520 146770520 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:146770520C>G ENST00000508784.1 - 6 2402 c.2175G>C c.(2173-2175)caG>caC p.Q725H ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Missense_Mutation_p.Q375H|ZNF827_ENST00000379448.4_Missense_Mutation_p.Q725H Q17R98 ZN827_HUMAN zinc finger protein 827 725 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CAGAGATATCCTGACTGAAGA 0.453000 41 39 0 0 0.864702 0 0 STX6 10228 broad.mit.edu 37 1 180971743 180971743 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:180971743C>A ENST00000258301.5 - 3 536 c.300_splice c.e3+1 p.R100_splice STX6_ENST00000542060.1_Intron NM_005819.4 NP_005810.1 O43752 STX6_HUMAN syntaxin 6 100 Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 10 ATTCCTTACCCTGACAACTTG 0.363000 11 41 0.479597 0.480822 0.479597 1 0 ABCG8 64241 broad.mit.edu 37 2 44078814 44078814 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:44078814C>G ENST00000272286.2 + 4 504 c.414C>G c.(412-414)ccC>ccG p.P138P NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 138 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATGGGCAGCCCAGCTCGCCTC 0.602000 16 59 0 0 0.539581 0 0 MLXIP 22877 broad.mit.edu 37 12 122625581 122625581 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:122625581G>T ENST00000319080.6 + 16 2721 c.2589G>T c.(2587-2589)acG>acT p.T863T MLXIP_ENST00000538698.1_Silent_p.T470T Q9HAP2 MLXIP_HUMAN MLX interacting protein 863 Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) TGCACCGGACGGCGCTCTCCT 0.617000 44 11 8.20599e-20 1.28149e-19 0.859065 1 0 RYR1 6261 broad.mit.edu 37 19 39023367 39023367 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:39023367C>G ENST00000355481.4 + 77 11366 c.11235C>G c.(11233-11235)gtC>gtG p.V3745V RYR1_ENST00000360985.3_Silent_p.V3750V|RYR1_ENST00000359596.3_Silent_p.V3750V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3750 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGTTGAGGTCTCCTTTGAGG 0.572000 13 29 0 0 0.500413 0 0 ENG 2022 broad.mit.edu 37 9 130588883 130588883 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:130588883C>T ENST00000344849.3 - 4 709 c.429G>A c.(427-429)aaG>aaA p.K143K ENG_ENST00000373203.4_Silent_p.K143K P17813 EGLN_HUMAN endoglin 143 artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GGATCTGGGTCTTGGGGAAGG 0.617000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 25 26 0 0 0.717897 0 0 POLQ 10721 broad.mit.edu 37 3 121251867 121251867 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:121251867C>G ENST00000264233.5 - 6 1058 c.930G>C c.(928-930)gtG>gtC p.V310V POLQ_ENST00000488282.1_5'UTR NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 310 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CAAATTCCCTCACAAGTTTCA 0.368000 DNA polymerases (catalytic subunits) 29 50 0 0 0.760397 0 0 PSD4 23550 broad.mit.edu 37 2 113950017 113950017 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:113950017A>T ENST00000245796.6 + 6 1884 c.1689A>T c.(1687-1689)gcA>gcT p.A563A PSD4_ENST00000441564.2_Silent_p.A535A NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 563 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGCCCCAAGCACAGTCCCCAG 0.542000 92 110 0 0 0.870114 0 0 NRXN2 9379 broad.mit.edu 37 11 64402851 64402851 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:64402851G>T ENST00000265459.6 - 18 3938 c.3477C>A c.(3475-3477)agC>agA p.S1159R NRXN2_ENST00000377559.3_Missense_Mutation_p.S1119R|NRXN2_ENST00000301894.2_Missense_Mutation_p.S113R|NRXN2_ENST00000377551.1_Missense_Mutation_p.S1159R|NRXN2_ENST00000409571.1_Missense_Mutation_p.S1152R NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1159 Laminin G-like 6. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCATCCTCGTGCTGGGCCTGT 0.647000 16 31 2.37509e-13 3.24673e-13 0.592651 1 0 VPS16 64601 broad.mit.edu 37 20 2844012 2844012 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:2844012A>T ENST00000380445.3 + 15 1516 c.1444A>T c.(1444-1446)Agc>Tgc p.S482C VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.S168C|VPS16_ENST00000380469.3_Missense_Mutation_p.S338C NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 482 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 ACAGGGCGTCAGCAGGATCCT 0.582000 13 67 0 0 0.479597 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894263 78894263 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:78894263G>T ENST00000326828.5 - 5 1105 c.721C>A c.(721-723)Ccc>Acc p.P241T CHRNA3_ENST00000348639.3_Missense_Mutation_p.P241T NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 241 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TAGAACAAGGGCAGGCGCCGG 0.557000 11 16 0.00244969 0.00255377 0.457914 1 0 CHRDL1 91851 broad.mit.edu 37 X 109937400 109937400 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:109937400G>T ENST00000218054.4 - 8 962 c.766C>A c.(766-768)Cat>Aat p.H256N CHRDL1_ENST00000444321.2_Missense_Mutation_p.H256N|CHRDL1_ENST00000394797.4_Missense_Mutation_p.H256N|CHRDL1_ENST00000372042.1_Missense_Mutation_p.H257N|CHRDL1_ENST00000482160.1_Missense_Mutation_p.H177N|CHRDL1_ENST00000372045.1_Missense_Mutation_p.H250N|CHRDL1_ENST00000434224.1_Missense_Mutation_p.H177N NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 250 VWFC 3. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 CCTTGTCCATGCTTGTGTTTG 0.512000 39 86 1.86633e-21 2.99805e-21 0.870114 1 0 COL5A2 1290 broad.mit.edu 37 2 189931223 189931223 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:189931223C>A ENST00000374866.3 - 23 1730 c.1455_splice c.e23-1 p.G486_splice NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 486 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCATGTGGCCCCTGTTAAAAA 0.483000 47 68 5.73435e-26 9.80534e-26 0.870114 1 0 OTOP2 92736 broad.mit.edu 37 17 72923878 72923878 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:72923878C>T ENST00000331427.4 + 5 720 c.628C>T c.(628-630)Cgt>Tgt p.R210C OTOP2_ENST00000580223.1_Missense_Mutation_p.R210C NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 210 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) CAGCCACGCCCGTCTCATCTC 0.572000 3 45 0 0 0.150653 0 0 UNC5C 8633 broad.mit.edu 37 4 96123951 96123951 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:96123951G>A ENST00000453304.1 - 12 2415 c.2067C>T c.(2065-2067)ccC>ccT p.P689P NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 689 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AGCAGCACAGGGGCCCAAAGA 0.602000 29 31 0 0 0.769981 0 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986154 31986154 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:31986154C>A ENST00000329122.2 - 1 95 c.70G>T c.(70-72)Ggc>Tgc p.G24C NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 24 cytosol|intermediate filament breast(2)|endometrium(1)|lung(7) 10 TAGCCATAGCCCAGGCCTCCA 0.597000 45 47 7.88023e-25 1.33698e-24 0.870114 1 0 POTEH 23784 broad.mit.edu 37 22 16267071 16267071 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:16267071C>A ENST00000343518.6 - 9 1429 c.1378G>T c.(1378-1380)Gga>Tga p.G460* NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 460 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TGAGTACTTCCGTGCTTCTTC 0.363000 22 318 1.30897e-18 2.0043e-18 0.740014 1 0 ANKRD28 23243 broad.mit.edu 37 3 15719757 15719757 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:15719757G>A ENST00000399451.2 - 24 2943 c.2576C>T c.(2575-2577)cCt>cTt p.P859L ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.P892L NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 859 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 CATCATAAGAGGTGTTTTCCC 0.398000 29 19 0 0 0.750413 0 0 TBR1 10716 broad.mit.edu 37 2 162274318 162274318 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:162274318G>A ENST00000389554.3 + 2 1141 c.824G>A c.(823-825)gGc>gAc p.G275D NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 275 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GTTCCTTGCGGCAAAGCGGAC 0.443000 11 27 0 0 0.387290 0 0 MACF1 23499 broad.mit.edu 37 1 39910445 39910445 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:39910445C>T ENST00000564288.1 + 80 20320 c.19543C>T c.(19543-19545)Cag>Tag p.Q6515* MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q4456*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q4326*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q4958*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q4456*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q6414*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q6552*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q4456* Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6523 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAAGACAGAACAGAGTGTAGC 0.463000 14 64 0 0 0.500413 0 0 ATAD2 29028 broad.mit.edu 37 8 124383143 124383143 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:124383143C>A ENST00000287394.5 - 6 834 c.727_splice c.e6+1 p.E243_splice ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AGAGACTAACCCACACTGCCT 0.318000 5 51 5.9392e-07 6.82591e-07 0.217242 1 0 SCN4A 6329 broad.mit.edu 37 17 62018745 62018745 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:62018745G>T ENST00000435607.1 - 24 4973 c.4897C>A c.(4897-4899)Cag>Aag p.Q1633K SCN4A_ENST00000578147.1_Missense_Mutation_p.Q1633K NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1633 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GCGATGAACTGGGTGGCGTCG 0.552000 32 38 4.11147e-13 5.58534e-13 0.788014 1 0 PSG9 5678 broad.mit.edu 37 19 43763169 43763169 + Missense_Mutation SNP G G T rs2355449 byFrequency TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:43763169G>T ENST00000418820.2 - 3 647 c.549C>A c.(547-549)aaC>aaA p.N183K PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.N183K|PSG9_ENST00000270077.3_Missense_Mutation_p.N276K|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 183 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GGCTCTGACCGTTTAGCCACC 0.473000 60 186 6.00099e-30 1.06509e-29 0.870114 1 0 MTNR1B 4544 broad.mit.edu 37 11 92715248 92715248 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:92715248G>T ENST00000257068.2 + 2 865 c.859G>T c.(859-861)Gag>Tag p.E287* NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 287 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CCAGATCCCTGAGGGGCTATT 0.502000 86 169 2.78983e-34 5.11339e-34 0.870114 1 0 IL27 246778 broad.mit.edu 37 16 28515227 28515227 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:28515227G>T ENST00000356897.1 - 2 198 c.176C>A c.(175-177)tCc>tAc p.S59Y NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 59 S -> A (in dbSNP:rs17855750). inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 CCGAACCTCGGAGAGCAGCTT 0.652000 34 38 4.0492e-12 5.37429e-12 0.827153 1 0 LILRB5 10990 broad.mit.edu 37 19 54759201 54759201 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:54759201G>T ENST00000450632.1 - 5 950 c.873C>A c.(871-873)aaC>aaA p.N291K LILRB5_ENST00000345866.6_Missense_Mutation_p.N200K|LILRB5_ENST00000316219.5_Missense_Mutation_p.N300K|LILRB5_ENST00000449561.2_Missense_Mutation_p.N300K O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 300 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TAGGGGAGAGGTTGTGTGCAC 0.692000 9 60 9.70103e-10 1.20298e-09 0.361761 1 0 FNDC1 84624 broad.mit.edu 37 6 159653222 159653222 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:159653222C>A ENST00000297267.9 + 11 1878 c.1678C>A c.(1678-1680)Caa>Aaa p.Q560K FNDC1_ENST00000340366.6_Missense_Mutation_p.Q497K NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 560 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CTCAGACACCCAAGACCAGAA 0.647000 10 17 3.07112e-06 3.4687e-06 0.387290 1 0 BRD9 65980 broad.mit.edu 37 5 878501 878501 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:878501C>A ENST00000323510.4 - 8 951 c.952G>T c.(952-954)Gga>Tga p.G318* BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Nonsense_Mutation_p.G298*|BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000467963.1_Nonsense_Mutation_p.G414*|BRD9_ENST00000483173.1_Nonsense_Mutation_p.G361* Q9H8M2 BRD9_HUMAN bromodomain containing 9 414 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GTCTCATCTCCGTAGGCTGAG 0.582000 18 128 2.47511e-08 2.9482e-08 0.729181 1 0 BMS1 9790 broad.mit.edu 37 10 43289422 43289422 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:43289422G>A ENST00000374518.4 + 9 1275 c.1212G>A c.(1210-1212)gaG>gaA p.E404E NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 404 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TTGGGTCAGAGGATATAGATA 0.393000 13 53 0 0 0.457914 0 0 NISCH 11188 broad.mit.edu 37 3 52512267 52512267 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:52512267A>G ENST00000345716.4 + 10 1276 c.1142A>G c.(1141-1143)aAc>aGc p.N381S NISCH_ENST00000488380.1_Missense_Mutation_p.N381S|NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000420808.2_Missense_Mutation_p.N381S|NISCH_ENST00000479054.1_Missense_Mutation_p.N381S NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 381 Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TCACTGGTCAACCTGGATCTC 0.507000 11 76 0 0 0.457914 0 0 ZBBX 79740 broad.mit.edu 37 3 167000074 167000074 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:167000074T>A ENST00000392766.2 - 19 2429 c.2089A>T c.(2089-2091)Act>Tct p.T697S ZBBX_ENST00000307529.5_Missense_Mutation_p.T736S|ZBBX_ENST00000392767.2_Missense_Mutation_p.T697S|ZBBX_ENST00000392764.1_Missense_Mutation_p.T668S|ZBBX_ENST00000455345.2_Missense_Mutation_p.T736S NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 697 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTGTCTAAAGTATGTTGATCA 0.323000 9 36 0 0 0.307466 0 0 DST 667 broad.mit.edu 37 6 56480558 56480558 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:56480558C>A ENST00000370765.6 - 24 7814 c.7707G>T c.(7705-7707)caG>caT p.Q2569H DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1865 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GAGAGTGAACCTGTGGCTCTA 0.388000 64 132 3.86735e-44 7.39922e-44 0.870114 1 0 NOTCH1 4851 broad.mit.edu 37 9 139409987 139409987 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:139409987G>A ENST00000277541.6 - 11 1926 c.1851C>T c.(1849-1851)acC>acT p.T617T NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 617 EGF-like 16; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGTCCTGGCAGGTGCCCCCGT 0.721000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 20 13 0 0 0.717897 0 0 FOXG1 2290 broad.mit.edu 37 14 29237172 29237172 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:29237172C>A ENST00000382535.3 + 2 1056 c.687C>A c.(685-687)atC>atA p.I229I FOXG1_ENST00000313071.4_Silent_p.I229I P55316 FOXG1_HUMAN forkhead box G1 229 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) AGAACTCCATCCGCCACAATC 0.592000 29 28 1.62565e-12 2.17233e-12 0.760397 1 0 ZNF578 147660 broad.mit.edu 37 19 53014918 53014918 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:53014918G>T ENST00000421239.2 + 6 1528 c.1284G>T c.(1282-1284)aaG>aaT p.K428N CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AACCTTACAAGTGTAATGACT 0.383000 17 49 1.01871e-10 1.30787e-10 0.575678 1 0 LILRP2 79166 broad.mit.edu 37 19 55221841 55221841 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:55221841G>T ENST00000413439.1 + 0 1415 GGAGGTGTCAGCTCAGAACGA 0.637000 4 11 0.00024832 0.000265497 0.150653 1 0 MAML2 84441 broad.mit.edu 37 11 96074881 96074881 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:96074881C>A ENST00000524717.1 - 1 1463 c.179G>T c.(178-180)cGa>cTa p.R60L NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 60 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GGCCCTACCTCGTTCATATCG 0.602000 T """MECT1, CRTC3""" salivary gland mucoepidermoid OREG0021305 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 19 5.16669e-11 6.70781e-11 0.387290 1 0 HCN1 348980 broad.mit.edu 37 5 45267338 45267338 + Nonsense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:45267338T>A ENST00000303230.4 - 7 1693 c.1636A>T c.(1636-1638)Aaa>Taa p.K546* NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 546 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CGACGTCCTTTGGTCAGCAGG 0.388000 75 62 0 0 0.870114 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519425 113519425 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:113519425G>T ENST00000284601.3 - 4 1790 c.1722C>A c.(1720-1722)acC>acA p.T574T NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 574 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 TGATTGCCCGGGTGGGGATTG 0.473000 72 156 4.00405e-42 7.6015e-42 0.870114 1 0 CCDC141 285025 broad.mit.edu 37 2 179733891 179733891 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179733891C>G ENST00000420890.2 - 15 2464 c.2347G>C c.(2347-2349)Gag>Cag p.E783Q CCDC141_ENST00000295723.5_Missense_Mutation_p.E208Q NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 208 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) AGGATATCCTCGTAATCCTGG 0.413000 35 92 0 0 0.859065 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175617 143175617 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:143175617G>T ENST00000408916.1 + 1 652 c.652G>T c.(652-654)Ggg>Tgg p.G218W EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 218 sensory perception of taste integral to membrane G-protein coupled receptor activity p.G218R(1) endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) GCAGCACAACGGGCACAGCCT 0.478000 19 57 1.85244e-09 2.2827e-09 0.654019 1 0 GRM5 2915 broad.mit.edu 37 11 88780700 88780700 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:88780700C>A ENST00000418177.2 - 2 708 c.341G>T c.(340-342)aGa>aTa p.R114I GRM5_ENST00000393294.3_Missense_Mutation_p.R114I|GRM5_ENST00000305432.5_Missense_Mutation_p.R114I|GRM5_ENST00000393297.1_Missense_Mutation_p.R114I|GRM5_ENST00000455756.2_Missense_Mutation_p.R114I|GRM5_ENST00000305447.4_Missense_Mutation_p.R114I P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 114 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GAGGGAATCTCTTATGAACTC 0.527000 22 49 2.37509e-13 3.24673e-13 0.592651 1 0 FSCB 84075 broad.mit.edu 37 14 44973903 44973903 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:44973903G>T ENST00000340446.4 - 1 2579 c.2288C>A c.(2287-2289)cCg>cAg p.P763Q NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 763 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TGCCACCTGCGGTGACTGAAA 0.433000 73 76 3.61922e-38 6.77914e-38 0.870114 1 0 PCLO 27445 broad.mit.edu 37 7 82580712 82580712 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:82580712G>T ENST00000423517.2 - 6 9529 c.9192C>A c.(9190-9192)tcC>tcA p.S3064S PCLO_ENST00000333891.8_Silent_p.S3064S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2995 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 TTCTTGCTGTGGAATACTGTG 0.453000 5 23 8.12818e-05 8.83968e-05 0.248553 1 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 4 96 0 0 0.150653 0 0 OR2M7 391196 broad.mit.edu 37 1 248487598 248487598 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248487598G>T ENST00000317965.2 - 1 301 c.273C>A c.(271-273)tcC>tcA p.S91S NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCATAGAAATGGACTTGCTGC 0.478000 69 210 2.94884e-30 5.25279e-30 0.870114 1 0 NAALAD2 10003 broad.mit.edu 37 11 89896511 89896511 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:89896511C>A ENST00000534061.1 + 10 1339 c.1109C>A c.(1108-1110)tCc>tAc p.S370Y NAALAD2_ENST00000525171.1_Missense_Mutation_p.S277Y|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.S337Y NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 370 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CACCGGGACTCCTGGGTATTT 0.383000 78 152 1.7318e-42 3.29731e-42 0.870114 1 0 MYO9B 4650 broad.mit.edu 37 19 17309028 17309028 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:17309028G>A ENST00000595618.1 + 24 4301 c.4149G>A c.(4147-4149)gcG>gcA p.A1383A MYO9B_ENST00000594824.1_Silent_p.A1383A|MYO9B_ENST00000397274.2_Silent_p.A1383A NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1383 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AGCGAAGTGCGAAAAAGCCAG 0.602000 7 30 0 0 0.248553 0 0 ZXDC 79364 broad.mit.edu 37 3 126180704 126180704 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:126180704C>A ENST00000389709.3 - 6 1854 c.1801G>T c.(1801-1803)Gtg>Ttg p.V601L ZXDC_ENST00000336332.5_Missense_Mutation_p.V601L NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 601 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) ACAGTCTGCACGTCATCCACA 0.572000 42 140 5.7616e-29 1.01709e-28 0.870114 1 0 BRPF3 27154 broad.mit.edu 37 6 36193074 36193074 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:36193074G>A ENST00000357641.6 + 11 3465 c.3212G>A c.(3211-3213)cGc>cAc p.R1071H BRPF3_ENST00000534400.1_Intron|BRPF3_ENST00000534694.1_Missense_Mutation_p.R737H|BRPF3_ENST00000339717.7_Missense_Mutation_p.R801H|BRPF3_ENST00000543502.1_Missense_Mutation_p.R801H|BRPF3_ENST00000443324.2_Missense_Mutation_p.R737H NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1071 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 TTTGAAGACCGCGGAGACCTG 0.647000 16 69 0 0 0.539581 0 0 NLRP2 55655 broad.mit.edu 37 19 55493963 55493963 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:55493963G>T ENST00000543010.1 + 6 1040 c.897G>T c.(895-897)gcG>gcT p.A299A NLRP2_ENST00000339757.7_Silent_p.A277A|NLRP2_ENST00000537859.1_Silent_p.A277A|NLRP2_ENST00000538819.1_Silent_p.A275A|NLRP2_ENST00000391721.4_Silent_p.A275A|NLRP2_ENST00000263437.6_Silent_p.A296A|NLRP2_ENST00000448584.2_Silent_p.A299A|NLRP2_ENST00000427260.2_Silent_p.A276A NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 299 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CACCTGGGGCGCTGATCGAGG 0.587000 14 50 7.07596e-05 7.71673e-05 0.539581 1 0 RNASEL 6041 broad.mit.edu 37 1 182554782 182554782 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:182554782T>G ENST00000367559.3 - 2 1413 c.1160A>C c.(1159-1161)cAa>cCa p.Q387P RNASEL_ENST00000444138.1_Missense_Mutation_p.Q387P|RNASEL_ENST00000539397.1_Missense_Mutation_p.Q387P NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 387 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 AGCTACTTCTTGCTTCTCATA 0.468000 25 108 0 0 0.740014 0 0 MED20 9477 broad.mit.edu 37 6 41877046 41877046 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:41877046C>A ENST00000265350.4 - 3 464 c.384G>T c.(382-384)acG>acT p.T128T MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409312.1_Intron|MED20_ENST00000409060.1_Silent_p.T128T NM_004275.3 NP_004266.2 Q9H944 MED20_HUMAN mediator complex subunit 20 128 regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1) 5 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCATTGTGACCGTGCCCACCT 0.567000 48 140 2.89171e-43 5.52182e-43 0.870114 1 0 PKD1L1 168507 broad.mit.edu 37 7 47842879 47842879 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:47842879C>G ENST00000289672.2 - 53 7941 c.7891G>C c.(7891-7893)Ggc>Cgc p.G2631R C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2631 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TTTTGAATGCCAGGAAGATAG 0.493000 35 46 0 0 0.827153 0 0 CDR1 1038 broad.mit.edu 37 X 139866480 139866480 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:139866480C>A ENST00000370532.2 - 1 243 c.52G>T c.(52-54)Gac>Tac p.D18Y NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 18 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) AAAGGTATGTCTTCCAACAAA 0.413000 81 56 6.51614e-51 1.26897e-50 0.870114 1 0 SORCS1 114815 broad.mit.edu 37 10 108458972 108458972 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:108458972C>A ENST00000263054.6 - 9 1420 c.1413_splice c.e9+1 p.E471_splice SORCS1_ENST00000344440.6_Splice_Site_p.E471_splice|SORCS1_ENST00000369698.1_Splice_Site_p.E6_splice NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 471 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CGTGACATACCTCATAGAGGT 0.527000 35 42 1.30091e-30 2.32364e-30 0.827153 1 0 SMYD1 150572 broad.mit.edu 37 2 88405967 88405967 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:88405967G>C ENST00000419482.2 + 8 1190 c.1105G>C c.(1105-1107)Gag>Cag p.E369Q SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.E356Q NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 GGCCTTTGAGGAGGCCTCGTT 0.532000 27 66 0 0 0.750413 0 0 JPH4 84502 broad.mit.edu 37 14 24041069 24041069 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:24041069C>T ENST00000397118.3 - 5 2114 c.1212G>A c.(1210-1212)gaG>gaA p.E404E JPH4_ENST00000544177.1_Silent_p.E69E|JPH4_ENST00000356300.4_Silent_p.E404E NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 404 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TTCGAGCTGCCTCCACGGCCT 0.637000 40 75 0 0 0.853193 0 0 AHSG 197 broad.mit.edu 37 3 186338623 186338623 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:186338623C>A ENST00000411641.2 + 7 1227 c.1008C>A c.(1006-1008)ccC>ccA p.P336P AHSG_ENST00000273784.5_Silent_p.P337P P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 336 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) TGTCGCACCCCCGGAAAACAC 0.607000 64 93 6.72169e-28 1.17286e-27 0.870114 1 0 ITGAX 3687 broad.mit.edu 37 16 31384707 31384707 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:31384707G>A ENST00000268296.4 + 20 2625 c.2504G>A c.(2503-2505)gGc>gAc p.G835D ITGAX_ENST00000562522.1_Missense_Mutation_p.G835D NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 835 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GTGGCAGAGGGCCAGGTGCAC 0.627000 30 53 0 0 0.804634 0 0 AP1M1 8907 broad.mit.edu 37 19 16314346 16314346 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:16314346A>T ENST00000291439.3 + 2 568 c.119A>T c.(118-120)aAg>aTg p.K40M AP1M1_ENST00000429941.2_Missense_Mutation_p.K40M|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.K40M|AP1M1_ENST00000541844.1_Intron NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 40 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 CTGATGGAGAAGGAGGAGGAG 0.582000 15 72 0 0 0.539581 0 0 SYNJ2 8871 broad.mit.edu 37 6 158487485 158487485 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:158487485G>A ENST00000355585.4 + 12 1610 c.1535G>A c.(1534-1536)aGg>aAg p.R512K SYNJ2_ENST00000367122.2_Missense_Mutation_p.R512K|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R440K|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R512K NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 512 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GTGACTCCCAGGATCCTGAAA 0.502000 26 28 0 0 0.717897 0 0 CENPE 1062 broad.mit.edu 37 4 104066825 104066825 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:104066825T>A ENST00000265148.3 - 31 4516 c.4427A>T c.(4426-4428)gAa>gTa p.E1476V CENPE_ENST00000380026.3_Missense_Mutation_p.E1451V NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1476 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AAGTTCCTCTTCAGTTTCCAG 0.313000 4 18 0 0 0.150653 0 0 ZNF492 57615 broad.mit.edu 37 19 22836757 22836757 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:22836757C>G ENST00000456783.2 + 3 314 c.70C>G c.(70-72)Ctg>Gtg p.L24V NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 24 KRAB. 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) GATCACCTGTCTGGAGCAAGG 0.413000 5 96 0 0 0.387290 0 0 OR1G1 8390 broad.mit.edu 37 17 3030714 3030714 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:3030714G>T ENST00000328890.2 - 1 161 c.132C>A c.(130-132)ctC>ctA p.L44L NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 CTAGAATGATGAGGAGGTTGC 0.517000 61 49 2.36135e-34 4.3402e-34 0.870114 1 0 COL11A2 1302 broad.mit.edu 37 6 33136733 33136733 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:33136733C>A ENST00000341947.2 - 52 4078 c.3852_splice c.e52+1 p.R1284_splice COL11A2_ENST00000361917.1_Splice_Site_p.R1177_splice|COL11A2_ENST00000374708.4_Splice_Site_p.R1198_splice|COL11A2_ENST00000395197.1_Splice_Site_p.R1224_splice|COL11A2_ENST00000357486.1_Splice_Site_p.R1263_splice|COL11A2_ENST00000374713.1_Splice_Site_p.R1237_splice|COL11A2_ENST00000374714.1_Splice_Site_p.R1258_splice|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site_p.R1203_splice NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1284 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 AAGACTCACCCGAGGGCCACC 0.607000 59 108 7.81431e-29 1.37821e-28 0.870114 1 0 ZFPM2 23414 broad.mit.edu 37 8 106815248 106815248 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:106815248C>A ENST00000407775.2 + 8 3188 c.2938C>A c.(2938-2940)Cag>Aag p.Q980K RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q848K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q711K|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q848K|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 980 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGGAGCCGACCAGCTTTCTCC 0.398000 13 13 4.36969e-10 5.47746e-10 0.435327 1 0 TBX21 30009 broad.mit.edu 37 17 45822286 45822286 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:45822286G>T ENST00000177694.1 + 6 1373 c.1162G>T c.(1162-1164)Ggg>Tgg p.G388W NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 388 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 TTACTGGCTGGGGGCCCCCCG 0.617000 48 51 1.4374e-25 2.45145e-25 0.870114 1 0 PCDHA10 56139 broad.mit.edu 37 5 140236091 140236091 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140236091T>A ENST00000307360.5 + 1 458 c.458T>A c.(457-459)cTa>cAa p.L153Q PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.L153Q|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGATTTCCACTAGAAGGCGCA 0.423000 100 55 0 0 0.870114 0 0 RNASE9 390443 broad.mit.edu 37 14 21025067 21025067 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:21025067T>C ENST00000557068.1 - 4 1887 c.162A>G c.(160-162)acA>acG p.T54T RNASE9_ENST00000429244.2_Silent_p.T54T|RNASE9_ENST00000553706.1_Silent_p.T59T|RNASE9_ENST00000553541.1_Silent_p.T54T|RNASE9_ENST00000404716.3_Silent_p.T59T|RNASE9_ENST00000557209.1_Silent_p.T59T|RNASE9_ENST00000554964.1_Silent_p.T54T|RNASE9_ENST00000338904.3_Silent_p.T54T|RNASE9_ENST00000555230.1_Silent_p.T54T|RNASE9_ENST00000556208.1_Silent_p.T59T P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 54 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TGGCGGGCCCTGTACTAAAAA 0.383000 19 53 0 0 0.575678 0 0 LNPEP 4012 broad.mit.edu 37 5 96315661 96315661 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:96315661C>T ENST00000231368.5 + 2 1531 c.839C>T c.(838-840)aCa>aTa p.T280I LNPEP_ENST00000395770.3_Missense_Mutation_p.T266I NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 280 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TTCTCCTACACAGATGAAAGT 0.408000 27 19 0 0 0.717897 0 0 UBE4B 10277 broad.mit.edu 37 1 10155609 10155609 + Nonsense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:10155609C>G ENST00000343090.6 + 3 377 c.302C>G c.(301-303)tCa>tGa p.S101* UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000253251.8_Nonsense_Mutation_p.S101* NM_001105562.2 NP_001099032.1 O95155 UBE4B_HUMAN ubiquitination factor E4B 101 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CAGTCTCTCTCACGTTCCCAG 0.443000 41 63 0 0 0.870114 0 0 ADAD2 161931 broad.mit.edu 37 16 84228889 84228889 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:84228889C>A ENST00000268624.3 + 6 1060 c.967C>A c.(967-969)Ccc>Acc p.P323T RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_Intron|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA NM_139174.3 NP_631913.3 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 244 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1) 13 CGTCTCTGCCCCCTCCTGCAC 0.697000 9 17 0.000978159 0.00103233 0.387290 1 0 RAB1B 81876 broad.mit.edu 37 11 66043553 66043553 + Silent SNP G G T rs61730423 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:66043553G>T ENST00000311481.6 + 6 597 c.450G>T c.(448-450)acG>acT p.T150T RAB1B_ENST00000527397.1_Silent_p.T118T|RP11-867G23.3_ENST00000501708.1_lincRNA NM_030981.2 NP_112243.1 Q9H0U4 RAB1B_HUMAN RAB1B, member RAS oncogene family 150 protein transport|small GTPase mediated signal transduction Golgi apparatus|membrane GTP binding|protein binding large_intestine(2)|lung(1)|ovary(1)|prostate(1) 5 TCTTGGAGACGAGCGCCAAGA 0.602000 9 15 1.49906e-05 1.65877e-05 0.457914 1 0 PDE10A 10846 broad.mit.edu 37 6 165827012 165827012 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:165827012C>A ENST00000366882.1 - 14 1379 c.1225G>T c.(1225-1227)Gct>Tct p.A409S PDE10A_ENST00000539869.2_Missense_Mutation_p.A419S|PDE10A_ENST00000354448.4_Missense_Mutation_p.A409S Q9Y233 PDE10_HUMAN phosphodiesterase 10A 409 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) AAGGCTAAAGCACAAAAGACG 0.358000 40 24 6.31075e-24 1.0534e-23 0.870114 1 0 SPOCD1 90853 broad.mit.edu 37 1 32280061 32280061 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:32280061C>T ENST00000360482.2 - 2 1003 c.874G>A c.(874-876)Ggg>Agg p.G292R SPOCD1_ENST00000533231.1_Missense_Mutation_p.G292R|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.G292R NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 292 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GGCCCATCCCCTGTAGCGGGC 0.627000 9 19 0 0 0.387290 0 0 LACE1 246269 broad.mit.edu 37 6 108843500 108843500 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:108843500G>T ENST00000368977.4 + 13 1504 c.1317_splice c.e13-1 p.D440_splice NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 440 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) TTATAACCAGGATTCAGCAGA 0.363000 23 7 9.39395e-14 1.29679e-13 0.706142 1 0 C1QC 714 broad.mit.edu 37 1 22974271 22974271 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:22974271G>T ENST00000374639.3 + 3 851 c.733G>T c.(733-735)Gac>Tac p.D245Y C1QC_ENST00000374640.4_Missense_Mutation_p.D245Y|C1QC_ENST00000374637.1_Missense_Mutation_p.D245Y NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 245 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCTCTTCCCCGACTAGGGCGG 0.632000 20 75 3.62473e-10 4.55528e-10 0.608945 1 0 TOX 9760 broad.mit.edu 37 8 59764243 59764243 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:59764243T>A ENST00000361421.1 - 4 753 c.533A>T c.(532-534)cAg>cTg p.Q178L NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 178 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GGTAGTCAGCTGGCCATGTGG 0.527000 16 90 0 0 0.479597 0 0 FKBP4 2288 broad.mit.edu 37 12 2910447 2910447 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:2910447G>A ENST00000001008.4 + 9 1384 c.1197G>A c.(1195-1197)cgG>cgA p.R399R RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa 399 Interaction with tubulin (By similarity). negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) GCCAGCAGCGGATCCGAAGGC 0.557000 27 122 0 0 0.740014 0 0 PANX3 116337 broad.mit.edu 37 11 124489663 124489663 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:124489663C>T ENST00000284288.2 + 4 1078 c.1011C>T c.(1009-1011)atC>atT p.I337I NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 337 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) GAGCTAACATCTCTGAGCTCA 0.428000 36 93 0 0 0.827153 0 0 CSAG1 158511 broad.mit.edu 37 X 151908860 151908860 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:151908860G>T ENST00000370291.2 + 4 379 c.99G>T c.(97-99)ctG>ctT p.L33L CSAG1_ENST00000370287.3_Silent_p.L33L|CSAG1_ENST00000452779.2_Silent_p.L33L Q6PB30 CSAG1_HUMAN chondrosarcoma associated gene 1 33 central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) ACACTGGTCTGGTGAAGATGT 0.562000 136 72 2.45478e-50 4.77103e-50 0.870114 1 0 C11orf63 79864 broad.mit.edu 37 11 122774868 122774868 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:122774868G>A ENST00000227349.2 + 3 877 c.580G>A c.(580-582)Gaa>Aaa p.E194K C11orf63_ENST00000531316.1_Missense_Mutation_p.E194K|C11orf63_ENST00000307257.6_Missense_Mutation_p.E194K NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 194 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) ACTTGGTAGTGAATTTTTAAG 0.542000 41 64 0 0 0.853193 0 0 PRKCI 5584 broad.mit.edu 37 3 170016829 170016829 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:170016829G>T ENST00000295797.4 + 17 1939 c.1634G>T c.(1633-1635)gGg>gTg p.G545V NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 545 AGC-kinase C-terminal. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AATATTTCTGGGGAATTTGGT 0.378000 22 68 1.55811e-20 2.46064e-20 0.729181 1 0 MAP10 54627 broad.mit.edu 37 1 232942300 232942300 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:232942300C>A ENST00000418460.1 + 1 1658 c.1531C>A c.(1531-1533)Cct>Act p.P511T NM_019090.2 NP_061963.2 microtubule-associated protein 10 GCTTGTAAATCCTCCACATAT 0.388000 4 7 0.00909568 0.00932367 0.150653 1 0 EPHA7 2045 broad.mit.edu 37 6 94120578 94120578 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:94120578C>T ENST00000369303.4 - 3 657 c.473G>A c.(472-474)gGt>gAt p.G158D EPHA7_ENST00000369297.1_Missense_Mutation_p.G158D NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 158 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ACCAAGGTCACCTTGGGTAAA 0.398000 35 30 0 0 0.804634 0 0 COL5A1 1289 broad.mit.edu 37 9 137716626 137716626 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:137716626C>T ENST00000371817.3 + 62 5293 c.4879C>T c.(4879-4881)Cgg>Tgg p.R1627W NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1627 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCAGATGAAACGGCCCCTGGG 0.637000 20 18 0 0 0.624587 0 0 B3GNT2 10678 broad.mit.edu 37 2 62449732 62449732 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:62449732G>A ENST00000301998.4 + 2 629 c.377G>A c.(376-378)cGc>cAc p.R126H B3GNT2_ENST00000405767.1_Missense_Mutation_p.R126H NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 126 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) TTGAGATGCCGCAATTATTCA 0.458000 40 159 0 0 0.827153 0 0 NSD1 64324 broad.mit.edu 37 5 176638942 176638942 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:176638942A>T ENST00000439151.2 + 5 3587 c.3542A>T c.(3541-3543)gAa>gTa p.E1181V NSD1_ENST00000354179.4_Missense_Mutation_p.E912V|NSD1_ENST00000361032.4_Missense_Mutation_p.E1078V|NSD1_ENST00000347982.4_Missense_Mutation_p.E912V NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1181 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAAGAGAAAGAAAACTCTGAG 0.468000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 28 15 0 0 0.729181 0 0 RPE65 6121 broad.mit.edu 37 1 68896850 68896850 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:68896850G>T ENST00000262340.5 - 13 1401 c.1348C>A c.(1348-1350)Ctg>Atg p.L450M NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 450 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 TTGACATTCAGCTTACAGAGC 0.373000 8 32 1.12685e-05 1.25114e-05 0.307466 1 0 LDLR 3949 broad.mit.edu 37 19 11215977 11215977 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:11215977G>T ENST00000558518.1 + 4 582 c.395G>T c.(394-396)cGg>cTg p.R132L LDLR_ENST00000455727.2_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.R91L|LDLR_ENST00000558013.1_Missense_Mutation_p.R132L|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.R132L NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 132 LDL-receptor class A 3. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GACTCAGACCGGGACTGCTTG 0.647000 70 195 4.493e-44 8.58789e-44 0.870114 1 0 GBA3 57733 broad.mit.edu 37 4 22737818 22737818 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:22737818C>A ENST00000511446.1 + 0 276 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGACAGGTTTCATCAACCAGA 0.408000 47 82 1.63038e-21 2.6233e-21 0.870114 1 0 OBSCN 84033 broad.mit.edu 37 1 228560770 228560770 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:228560770G>A ENST00000570156.2 + 105 25236 c.25162G>A c.(25162-25164)Ggc>Agc p.G8388S OBSCN_ENST00000422127.1_Missense_Mutation_p.G7431S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G5065S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7431 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GATCCTGAAGGGCAGGCCGGA 0.642000 12 38 0 0 0.500413 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110431379 110431379 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:110431379G>T ENST00000378402.5 + 22 2518 c.2414G>T c.(2413-2415)gGg>gTg p.G805V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 805 immune response cytosol|extracellular space|integral to membrane receptor activity p.G807V(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AAATACACTGGGACAAATGTT 0.378000 HNSCC(38;0.096) 55 38 1.53716e-24 2.5923e-24 0.870114 1 0 MYRF 745 broad.mit.edu 37 11 61544867 61544867 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:61544867C>A ENST00000278836.5 + 12 1818 c.1722C>A c.(1720-1722)caC>caA p.H574Q MYRF_ENST00000265460.5_Missense_Mutation_p.H565Q|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Missense_Mutation_p.H199Q NM_001127392.1 NP_001120864.1 myelin regulatory factor TGGTTGTGCACGGGAATGTCA 0.677000 10 44 2.17888e-05 2.40289e-05 0.335167 1 0 GPR141 353345 broad.mit.edu 37 7 37780698 37780698 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:37780698C>T ENST00000447769.1 + 4 992 c.703C>T c.(703-705)Ctt>Ttt p.L235F EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.L235F Q7Z602 GP141_HUMAN G protein-coupled receptor 141 235 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGGGGTCATCCTTGTTTGTTT 0.408000 35 98 0 0 0.804634 0 0 TMEM63B 55362 broad.mit.edu 37 6 44116019 44116019 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:44116019G>T ENST00000259746.9 + 13 1201 c.1018G>T c.(1018-1020)Gag>Tag p.E340* TMEM63B_ENST00000323267.6_Nonsense_Mutation_p.E340* Q5T3F8 TM63B_HUMAN transmembrane protein 63B 340 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CACAAAGCTGGAGCAGAAGCT 0.552000 38 73 1.67305e-13 2.29503e-13 0.819951 1 0 OR1G1 8390 broad.mit.edu 37 17 3030137 3030137 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:3030137C>T ENST00000328890.2 - 1 738 c.709G>A c.(709-711)Gcc>Acc p.A237T NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 GTGGAAAAGGCTTTCCGCTTC 0.498000 12 14 0 0 0.387290 0 0 NLRP4 147945 broad.mit.edu 37 19 56369254 56369254 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:56369254G>C ENST00000301295.6 + 3 917 c.495G>C c.(493-495)ctG>ctC p.L165L NLRP4_ENST00000587891.1_Silent_p.L90L|NLRP4_ENST00000346986.5_Silent_p.L165L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 165 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CGACACTCCTGATGAAGCTGA 0.498000 13 46 0 0 0.435327 0 0 PSORS1C1 170679 broad.mit.edu 37 6 31107664 31107664 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:31107664G>T ENST00000259881.9 + 6 703 c.414G>T c.(412-414)tcG>tcT p.S138S PSORS1C1_ENST00000481450.2_Silent_p.S75S|PSORS1C1_ENST00000547221.1_Silent_p.S90S NM_014068.2 NP_054787.2 Q9UIG5 PS1C1_HUMAN psoriasis susceptibility 1 candidate 1 138 kidney(1)|ovary(2)|prostate(1)|skin(1) 5 TATTGTACTCGTCTCCTCCCT 0.557000 71 120 5.66823e-36 1.04772e-35 0.870114 1 0 FAM74A3 728495 broad.mit.edu 37 9 40716218 40716218 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:40716218C>A ENST00000604146.1 + 0 557 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GCTGTCGTTACTGCTGCACTT 0.443000 42 44 1.46156e-29 2.58938e-29 0.870114 1 0 MSX1 4487 broad.mit.edu 37 4 4861965 4861965 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:4861965G>T ENST00000382723.4 + 1 573 c.339G>T c.(337-339)cgG>cgT p.R113R NM_002448.3 NP_002439.2 P28360 MSX1_HUMAN msh homeobox 1 107 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTTCGCCGCGGCCGCTCGGCC 0.741000 5 6 0.000602214 0.00063762 0.184627 1 0 OR2F2 135948 broad.mit.edu 37 7 143632915 143632915 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:143632915C>T ENST00000408955.2 + 1 657 c.590C>T c.(589-591)gCt>gTt p.A197V NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TCCAATGAGGCTGCCATCATG 0.488000 61 63 0 0 0.870114 0 0 FCRL2 79368 broad.mit.edu 37 1 157740261 157740261 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:157740261C>G ENST00000361516.3 - 3 296 c.248G>C c.(247-249)aGt>aCt p.S83T FCRL2_ENST00000368181.4_Missense_Mutation_p.S83T|FCRL2_ENST00000392274.3_Missense_Mutation_p.S83T NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 83 Ig-like C2-type 1. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCCTTTGGTACTACAGAAATA 0.368000 27 51 0 0 0.717897 0 0 ZPBP2 124626 broad.mit.edu 37 17 38033057 38033057 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:38033057G>T ENST00000377940.3 + 7 1085 c.946G>T c.(946-948)Gat>Tat p.D316Y ZPBP2_ENST00000584588.1_Missense_Mutation_p.D265Y|ZPBP2_ENST00000348931.4_Missense_Mutation_p.D338Y NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 338 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) GCAATATGAAGATTAGAGGTG 0.383000 90 118 1.9362e-44 3.71168e-44 0.870114 1 0 TXNDC2 84203 broad.mit.edu 37 18 9887266 9887266 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:9887266C>A ENST00000306084.6 + 2 989 c.790C>A c.(790-792)Ccc>Acc p.P264T TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.P197T NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 264 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GCCCATCCAGCCCAAGCTGGG 0.597000 52 118 1.78197e-24 2.99743e-24 0.870114 1 0 RBM46 166863 broad.mit.edu 37 4 155719165 155719165 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:155719165C>G ENST00000510397.1 + 3 533 c.354C>G c.(352-354)atC>atG p.I118M RBM46_ENST00000514866.1_Missense_Mutation_p.I118M|RBM46_ENST00000281722.3_Missense_Mutation_p.I118M NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 118 RRM 1. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) AATTAGCCATCAGAATTCTTA 0.343000 20 29 0 0 0.557998 0 0 AJAP1 55966 broad.mit.edu 37 1 4772703 4772703 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:4772703G>T ENST00000378191.4 + 2 1154 c.773G>T c.(772-774)aGt>aTt p.S258I AJAP1_ENST00000378190.3_Missense_Mutation_p.S258I NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 258 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CCTTCCACCAGTCCCAGCAAC 0.607000 21 125 1.33986e-20 2.11938e-20 0.681144 1 0 OR5T3 390154 broad.mit.edu 37 11 56020019 56020019 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:56020019T>A ENST00000303059.3 + 1 344 c.344T>A c.(343-345)tTc>tAc p.F115Y NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTGGTCAATTTCCTGGCAAAA 0.363000 104 86 0 0 0.870114 0 0 DAG1 1605 broad.mit.edu 37 3 49569634 49569634 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:49569634C>T ENST00000545947.1 + 6 2412 c.1690C>T c.(1690-1692)Ctt>Ttt p.L564F DAG1_ENST00000308775.2_Missense_Mutation_p.L564F|DAG1_ENST00000538711.1_Missense_Mutation_p.L564F|DAG1_ENST00000515359.2_Missense_Mutation_p.L564F|DAG1_ENST00000539901.1_Missense_Mutation_p.L564F|DAG1_ENST00000541308.1_Missense_Mutation_p.L564F NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 564 Peptidase S72. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CATGTATGGCCTTCCCGACAG 0.582000 30 15 0 0 0.796494 0 0 CLCA4 22802 broad.mit.edu 37 1 87045773 87045773 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:87045773A>G ENST00000370563.3 + 14 2547 c.2505A>G c.(2503-2505)gaA>gaG p.E835E RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 835 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) ATATCTCAGAAGAAAATGCAA 0.343000 14 48 0 0 0.500413 0 0 ZNF695 57116 broad.mit.edu 37 1 247151041 247151041 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:247151041T>C ENST00000339986.7 - 4 923 c.776A>G c.(775-777)gAg>gGg p.E259G ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 259 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ATGATTTTTCTCAACAACAGC 0.333000 7 18 0 0 0.278610 0 0 BMPER 168667 broad.mit.edu 37 7 34192757 34192757 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:34192757A>G ENST00000297161.2 + 16 2304 c.1930A>G c.(1930-1932)Aag>Gag p.K644E BMPER_ENST00000426693.1_Missense_Mutation_p.K644E NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 644 TIL. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GGGATGTATCAAGACGTGTGA 0.507000 8 242 0 0 0.335167 0 0 ABCA4 24 broad.mit.edu 37 1 94522205 94522205 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:94522205C>T ENST00000370225.3 - 15 2420 c.2334G>A c.(2332-2334)ctG>ctA p.L778L ABCA4_ENST00000535735.1_Intron NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 778 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AGGCGAAGCACAGGATGTGTG 0.577000 8 48 0 0 0.387290 0 0 PTCHD2 57540 broad.mit.edu 37 1 11591057 11591057 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:11591057G>T ENST00000294484.6 + 16 3334 c.3196G>T c.(3196-3198)Gtg>Ttg p.V1066L PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1066L NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1066 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CTCCGAGCTGGTGAAGCCGGG 0.622000 36 150 2.24893e-16 3.3168e-16 0.847076 1 0 ZBED1 9189 broad.mit.edu 37 X 2408367 2408367 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:2408367C>A ENST00000381223.4 - 2 597 c.394G>T c.(394-396)Ggc>Tgc p.G132C ZBED1_ENST00000381222.2_Missense_Mutation_p.G132C|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.G132C NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 132 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGATGAGGCCCAGCACGGCG 0.701000 13 15 1.61879e-10 2.06612e-10 0.411799 1 0 CDAN1 146059 broad.mit.edu 37 15 43017368 43017368 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:43017368T>C ENST00000356231.3 - 27 3555 c.3532A>G c.(3532-3534)Agc>Ggc p.S1178G NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 1178 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TGGTGGAGGCTGCCCAGGCAG 0.557000 29 24 0 0 0.788014 0 0 SI 6476 broad.mit.edu 37 3 164709164 164709164 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:164709164C>A ENST00000264382.3 - 44 5147 c.5085G>T c.(5083-5085)gaG>gaT p.E1695D NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1695 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTTGAGCTGGCTCTTGACATG 0.373000 HNSCC(35;0.089) 51 100 1.1362e-29 2.01477e-29 0.870114 1 0 SLC26A7 115111 broad.mit.edu 37 8 92352712 92352712 + Missense_Mutation SNP A A G rs139932833 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:92352712A>G ENST00000276609.3 + 8 1198 c.959A>G c.(958-960)tAt>tGt p.Y320C SLC26A7_ENST00000523719.1_Missense_Mutation_p.Y320C|SLC26A7_ENST00000309536.2_Missense_Mutation_p.Y320C NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 320 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) CTTGTAGGCTATGTGGCCTCA 0.507000 104 71 0 0 0.870114 0 0 ZNF250 58500 broad.mit.edu 37 8 146115728 146115728 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:146115728C>A ENST00000292579.7 - 2 123 c.7G>T c.(7-9)Gca>Tca p.A3S ZNF250_ENST00000417550.2_Missense_Mutation_p.A3S|ZNF250_ENST00000342660.6_Missense_Mutation_p.A3S|ZNF250_ENST00000543949.1_Missense_Mutation_p.A3S NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) AGTCTGGCTGCTGCCATCACC 0.642000 11 10 4.36969e-10 5.47746e-10 0.435327 1 0 LILRA6 79168 broad.mit.edu 37 19 54744265 54744265 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:54744265G>T ENST00000419410.2 - 6 1144 c.1143C>A c.(1141-1143)ttC>ttA p.F381L LILRA6_ENST00000245621.5_Missense_Mutation_p.F381L|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.F381L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACTCATGGGGAATTCAGCCT 0.572000 23 92 7.01153e-11 9.03126e-11 0.717897 1 0 RGAG4 340526 broad.mit.edu 37 X 71350436 71350436 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:71350436G>C ENST00000545866.1 - 1 1322 c.955C>G c.(955-957)Ctc>Gtc p.L319V NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.L319V Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 319 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) ACTCCAGGGAGCGGGATAGGC 0.473000 6 113 0 0 0.248553 0 0 HKR1 284459 broad.mit.edu 37 19 37853636 37853636 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:37853636G>A ENST00000591471.1 + 9 1761 c.120G>A c.(118-120)aaG>aaA p.K40K HKR1_ENST00000324411.4_Silent_p.K313K|HKR1_ENST00000589392.1_Silent_p.K295K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Silent_p.K252K|HKR1_ENST00000544914.1_Silent_p.K40K|HKR1_ENST00000392153.3_Silent_p.K294K P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 313 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTACGTGGAAGTCAAACCTGA 0.493000 22 89 0 0 0.667858 0 0 MAF 4094 broad.mit.edu 37 16 79632975 79632975 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:79632975G>T ENST00000393350.1 - 1 1636 c.825C>A c.(823-825)aaC>aaA p.N275K MAF_ENST00000326043.4_Missense_Mutation_p.N275K|MAF_ENST00000569649.1_Missense_Mutation_p.N275K NM_001031804.2 NP_001026974.1 O75444 MAF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 275 Represses ARE-mediated transcription. transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5) 10 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) GCAGCTGCCGGTTCAGCTCGC 0.682000 T IGH@ MM 6 37 0.0293803 0.0298518 0.248553 1 0 TRBV7-1 28597 broad.mit.edu 37 7 142032493 142032493 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142032493G>T ENST00000547918.2 + 0 346 ACAGCAGGGGGACTTGGCTGT 0.557000 8 30 3.86212e-05 4.2283e-05 0.361761 1 0 ATRX 546 broad.mit.edu 37 X 76939598 76939598 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:76939598T>A ENST00000373344.5 - 9 1364 c.1150A>T c.(1150-1152)Agt>Tgt p.S384C ATRX_ENST00000395603.3_Missense_Mutation_p.S346C|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 384 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GTAGCAGAACTGATTTCTGAA 0.358000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 122 64 0 0 0.870114 0 0 ZIM2 23619 broad.mit.edu 37 19 57286141 57286141 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:57286141C>G ENST00000391708.3 - 12 2041 c.1499G>C c.(1498-1500)gGg>gCg p.G500A ZIM2_ENST00000593711.1_Missense_Mutation_p.G500A|ZIM2_ENST00000221722.5_Missense_Mutation_p.G500A|ZIM2_ENST00000601070.1_Missense_Mutation_p.G500A|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.G500A|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GAAACATTTCCCACATAGCTG 0.443000 14 55 0 0 0.500413 0 0 PALLD 23022 broad.mit.edu 37 4 169433393 169433393 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:169433393C>A ENST00000261509.6 + 2 949 c.738C>A c.(736-738)aaC>aaA p.N246K PALLD_ENST00000505667.1_Missense_Mutation_p.N246K|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.N123K NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 246 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) ACCAGGACAACCAGGACTTGG 0.607000 Pancreatic Cancer, Familial Clustering of 42 48 8.04919e-23 1.32555e-22 0.870114 1 0 POLR1A 25885 broad.mit.edu 37 2 86327196 86327196 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:86327196A>G ENST00000263857.6 - 2 555 c.177T>C c.(175-177)gaT>gaC p.D59D POLR1A_ENST00000409681.1_Silent_p.D59D O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 59 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 CCTCTTTGGAATCTGCAGGGC 0.532000 15 42 0 0 0.479597 0 0 CCDC148 130940 broad.mit.edu 37 2 159195304 159195304 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:159195304T>C ENST00000283233.5 - 7 1011 c.698A>G c.(697-699)tAt>tGt p.Y233C CCDC148_ENST00000409187.1_Missense_Mutation_p.Y242C|CCDC148_ENST00000409889.1_Missense_Mutation_p.Y233C|CCDC148_ENST00000536771.1_Missense_Mutation_p.Y147C NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 233 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TGTAAACTTATAGAACTCACT 0.363000 15 37 0 0 0.479597 0 0 OR5M10 390167 broad.mit.edu 37 11 56344812 56344812 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:56344812G>T ENST00000526812.2 - 1 451 c.386C>A c.(385-387)cCt>cAt p.P129H NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 GTAATGTAAAGGGCTGCAAAT 0.463000 80 81 3.05217e-42 5.80001e-42 0.870114 1 0 MROH2B 133558 broad.mit.edu 37 5 41054867 41054867 + Splice_Site SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:41054867A>T ENST00000399564.4 - 11 1558 c.e11+1 MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TAATTCTCTTACTTTTGTACT 0.338000 59 34 0 0 0.870114 0 0 MYCBP2 23077 broad.mit.edu 37 13 77671932 77671932 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:77671932C>A ENST00000407578.2 - 56 9623 c.9357G>T c.(9355-9357)aaG>aaT p.K3119N MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.K3081N|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K3081N NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3081 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TAGACAATACCTTGTTTTTGT 0.363000 60 54 4.37588e-27 7.5482e-27 0.870114 1 0 PET112 5188 broad.mit.edu 37 4 152638065 152638065 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:152638065G>T ENST00000263985.6 - 4 643 c.603C>A c.(601-603)aaC>aaA p.N201K PET112_ENST00000515812.1_Missense_Mutation_p.N201K|PET112_ENST00000512306.1_Missense_Mutation_p.N201K NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 201 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAGACCTCAGGTTGTCGTGGA 0.517000 4 98 0.0215528 0.0219326 0.217242 1 0 ZNF626 199777 broad.mit.edu 37 19 20808347 20808347 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:20808347C>A ENST00000601440.1 - 4 482 c.336G>T c.(334-336)caG>caT p.Q112H CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 CTTTTTTTAACTGTAAATTGT 0.358000 10 55 0.361761 0.36287 0.361761 1 0 COL5A2 1290 broad.mit.edu 37 2 189944757 189944757 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:189944757C>A ENST00000374866.3 - 14 1181 c.906_splice c.e14-1 p.G303_splice NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 303 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCTTTGTGTCCCTGAGAATAA 0.348000 12 50 4.7546e-09 5.76841e-09 0.500413 1 0 ATP2A3 489 broad.mit.edu 37 17 3851060 3851060 + Silent SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:3851060C>G ENST00000309890.7 - 8 870 c.720G>C c.(718-720)gcG>gcC p.A240A ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.A240A|ATP2A3_ENST00000352011.3_Silent_p.A240A|ATP2A3_ENST00000397043.3_Silent_p.A240A|ATP2A3_ENST00000397041.3_Silent_p.A240A|ATP2A3_ENST00000397035.3_Silent_p.A240A NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2 NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous 240 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GCTCGACTGCCGCCATCTGGC 0.677000 20 26 0 0 0.639603 0 0 HOXA5 3202 broad.mit.edu 37 7 27183097 27183097 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:27183097T>A ENST00000222726.3 - 1 190 c.130A>T c.(130-132)Agg>Tgg p.R44W HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 44 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 TAGCCGTACCTGCCGGAGTGC 0.622000 20 52 0 0 0.654019 0 0 CSMD3 114788 broad.mit.edu 37 8 113697904 113697904 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:113697904G>C ENST00000297405.5 - 15 2457 c.2213C>G c.(2212-2214)cCa>cGa p.P738R CSMD3_ENST00000343508.3_Missense_Mutation_p.P698R|CSMD3_ENST00000352409.3_Missense_Mutation_p.P738R|CSMD3_ENST00000455883.2_Missense_Mutation_p.P634R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 738 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATACCCTTCTGGGTAATCAGG 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 164 0 0 0.654019 0 0 BPIFB1 92747 broad.mit.edu 37 20 31876596 31876596 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:31876596G>A ENST00000253354.1 + 3 326 c.165G>A c.(163-165)caG>caA p.Q55Q NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 55 extracellular space lipid binding TCCTGCAGCAGCTGCCGCTGC 0.627000 42 30 0 0 0.840704 0 0 CD163 9332 broad.mit.edu 37 12 7633775 7633775 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:7633775C>A ENST00000359156.4 - 15 3527 c.3325G>T c.(3325-3327)Gac>Tac p.D1109Y CD163_ENST00000432237.2_Missense_Mutation_p.D1109Y|CD163_ENST00000396620.3_Missense_Mutation_p.D1142Y|CD163_ENST00000541972.1_Missense_Mutation_p.D1097Y NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1109 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTCATTAGGTCCAGATCATCT 0.458000 77 49 6.51614e-51 1.26897e-50 0.870114 1 0 MYO5C 55930 broad.mit.edu 37 15 52571809 52571809 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:52571809C>A ENST00000261839.7 - 3 362 c.201G>T c.(199-201)gtG>gtT p.V67V MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 67 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CATTCTCGCCCACGAGGATGT 0.468000 21 33 1.1804e-14 1.6718e-14 0.667858 1 0 HOXB4 3214 broad.mit.edu 37 17 46654125 46654125 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:46654125C>T ENST00000332503.5 - 2 2506 c.715G>A c.(715-717)Ggg>Agg p.G239R HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 239 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 CCAGGGGGCCCTCCGGCTGAG 0.672000 12 32 0 0 0.435327 0 0 NLRP10 338322 broad.mit.edu 37 11 7982410 7982410 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:7982410C>A ENST00000328600.2 - 2 910 c.749G>T c.(748-750)gGc>gTc p.G250V NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 250 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCATCAAAGCCATCCAGGAT 0.527000 22 33 2.32416e-17 3.49603e-17 0.624587 1 0 ABI3BP 25890 broad.mit.edu 37 3 100617648 100617648 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:100617648G>C ENST00000471714.1 - 4 549 c.440C>G c.(439-441)cCa>cGa p.P147R ABI3BP_ENST00000495063.1_Missense_Mutation_p.P147R|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P147R Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 147 Fibronectin type-III 1. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GTCATGGTGTGGGTTGATGAG 0.468000 28 81 0 0 0.729181 0 0 UTS2R 2837 broad.mit.edu 37 17 80333311 80333311 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:80333311G>T ENST00000313135.2 + 1 1159 c.1111G>T c.(1111-1113)Gtg>Ttg p.V371L NM_018949.1 NP_061822.1 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 371 integral to membrane|plasma membrane breast(1)|endometrium(4)|kidney(1)|lung(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) TGACAGCCTCGTGCTGGCCCC 0.786000 9 28 7.03913e-09 8.4876e-09 0.411799 1 0 ITPR2 3709 broad.mit.edu 37 12 26774108 26774108 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:26774108T>A ENST00000381340.3 - 26 3826 c.3410A>T c.(3409-3411)gAg>gTg p.E1137V NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1137 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TTCTCCATTCTCATAGTTGCT 0.418000 222 160 0 0 0.870114 0 0 CATSPERD 257062 broad.mit.edu 37 19 5729887 5729887 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:5729887C>A ENST00000381624.3 + 4 269 c.208C>A c.(208-210)Caa>Aaa p.Q70K CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 70 integral to membrane TTTCAGGAAACAAGTTTTTTT 0.323000 9 36 1.12685e-05 1.25114e-05 0.307466 1 0 ATP8B4 79895 broad.mit.edu 37 15 50288949 50288949 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:50288949T>C ENST00000284509.6 - 9 655 c.514A>G c.(514-516)Aac>Gac p.N172D ATP8B4_ENST00000559829.1_Missense_Mutation_p.N172D|ATP8B4_ENST00000558959.1_5'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 172 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACTTTTAGGTTCGTTTCCCTG 0.408000 14 15 0 0 0.520397 0 0 BRD8 10902 broad.mit.edu 37 5 137504273 137504273 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:137504273T>A ENST00000230901.5 - 9 762 c.747A>T c.(745-747)gtA>gtT p.V249V BRD8_ENST00000402931.1_Intron|BRD8_ENST00000411594.2_Silent_p.V249V|BRD8_ENST00000254900.5_Intron|BRD8_ENST00000455658.2_Intron NM_006696.3 NP_006687.3 Q9H0E9 BRD8_HUMAN bromodomain containing 8 206 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AATCATCTGTTACTGGGGTCA 0.577000 27 27 0 0 0.717897 0 0 ZNF827 152485 broad.mit.edu 37 4 146806880 146806880 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:146806880C>G ENST00000508784.1 - 4 1924 c.1697G>C c.(1696-1698)aGc>aCc p.S566T ZNF827_ENST00000513320.1_Missense_Mutation_p.S216T|ZNF827_ENST00000379448.4_Missense_Mutation_p.S566T Q17R98 ZN827_HUMAN zinc finger protein 827 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) GATGTCCTGGCTGAACAATGC 0.502000 39 53 0 0 0.870114 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303804 151303804 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:151303804C>T ENST00000370323.4 - 4 605 c.289G>A c.(289-291)Gtt>Att p.V97I MAGEA10_ENST00000244096.3_Missense_Mutation_p.V97I|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 97 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGGGAAGCAACGACCGAGGGG 0.537000 110 57 0 0 0.870114 0 0 PDE10A 10846 broad.mit.edu 37 6 165827126 165827126 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:165827126G>T ENST00000366882.1 - 14 1265 c.1111C>A c.(1111-1113)Ccc>Acc p.P371T PDE10A_ENST00000539869.2_Missense_Mutation_p.P381T|PDE10A_ENST00000354448.4_Missense_Mutation_p.P371T Q9Y233 PDE10_HUMAN phosphodiesterase 10A 371 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CTGACGATGGGCATGCACAGG 0.463000 17 9 3.52763e-06 3.97745e-06 0.520397 1 0 COL4A5 1287 broad.mit.edu 37 X 107865999 107865999 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:107865999C>A ENST00000328300.6 + 33 3105 c.2861C>A c.(2860-2862)cCa>cAa p.P954Q COL4A5_ENST00000361603.2_Missense_Mutation_p.P954Q NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 954 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCTCCTGGACCAATGGATCCA 0.468000 Alport syndrome with Diffuse Leiomyomatosis 23 18 6.32553e-13 8.54578e-13 0.681144 1 0 GPR152 390212 broad.mit.edu 37 11 67218940 67218940 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:67218940G>T ENST00000312457.2 - 1 1260 c.1256C>A c.(1255-1257)gCc>gAc p.A419D NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 419 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CACAGAACTGGCAGCAGGTGC 0.627000 20 46 7.45023e-12 9.84172e-12 0.592651 1 0 CDH10 1008 broad.mit.edu 37 5 24535300 24535300 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:24535300C>A ENST00000264463.4 - 5 1242 c.735G>T c.(733-735)caG>caT p.Q245H NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 245 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCCTCCCATCTGGCCGCCCA 0.488000 HNSCC(23;0.051) 60 38 3.37043e-27 5.81896e-27 0.870114 1 0 ARHGEF18 23370 broad.mit.edu 37 19 7506854 7506854 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:7506854G>A ENST00000359920.6 + 3 965 c.712G>A c.(712-714)Gct>Act p.A238T ARHGEF18_ENST00000319670.9_Missense_Mutation_p.A80T|CTD-2207O23.3_ENST00000593531.1_Silent_p.K195K NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 238 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) CGAGTTTGAAGCTGAGTCCTG 0.582000 36 139 0 0 0.819951 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806708 6806708 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:6806708C>T ENST00000307401.4 + 1 461 c.440C>T c.(439-441)aCg>aTg p.T147M NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGGTGGCCACGTCCTGGATC 0.527000 26 29 0 0 0.740014 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64602859 64602859 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:64602859A>T ENST00000342711.5 - 16 1912 c.1913T>A c.(1912-1914)cTg>cAg p.L638Q NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 638 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 TTCCTCCTGCAGCTGGCACAG 0.667000 133 353 0 0 0.870114 0 0 CACNA1I 8911 broad.mit.edu 37 22 40055019 40055019 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:40055019G>T ENST00000336649.4 + 15 2246 c.2246G>T c.(2245-2247)cGc>cTc p.R749L CACNA1I_ENST00000401624.1_Missense_Mutation_p.R743L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R708L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R743L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R708L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R708L Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 743 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) AAACTGGTGCGCTTCATGCCT 0.637000 9 14 0.010729 0.0109693 0.387290 1 0 BNC2 54796 broad.mit.edu 37 9 16738391 16738391 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:16738391G>T ENST00000380672.4 - 2 153 c.96C>A c.(94-96)gtC>gtA p.V32V BNC2_ENST00000380666.2_Silent_p.V32V|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Silent_p.V32V NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CACAACATGGGACCTTGAAAT 0.438000 34 20 2.40579e-17 3.61053e-17 0.819951 1 0 FFAR3 2865 broad.mit.edu 37 19 35849879 35849879 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:35849879C>A ENST00000327809.4 + 2 288 c.87C>A c.(85-87)ctC>ctA p.L29L FFAR3_ENST00000594310.1_Silent_p.L29L NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 29 integral to plasma membrane G-protein coupled receptor activity|lipid binding p.L29L(2) endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TGGTGGGGCTCCCCCTCAACC 0.647000 21 46 2.65835e-16 3.90302e-16 0.717897 1 0 TTN 7273 broad.mit.edu 37 2 179595716 179595716 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179595716T>C ENST00000589042.1 - 60 17900 c.17676A>G c.(17674-17676)gaA>gaG p.E5892E TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.E4648E|TTN_ENST00000591111.1_Silent_p.E5575E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5575 Ig-like 40. 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) CGAAAGTATATTCTCCACTAT 0.388000 33 178 0 0 0.812448 0 0 CCDC101 112869 broad.mit.edu 37 16 28601534 28601534 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:28601534A>T ENST00000317058.3 + 6 594 c.407A>T c.(406-408)aAg>aTg p.K136M NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 136 establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 TGGATCGGGAAGCCTGGTGAC 0.657000 7 15 0 0 0.387290 0 0 SMCHD1 23347 broad.mit.edu 37 18 2796455 2796455 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:2796455G>T ENST00000320876.6 + 47 6267 c.5929G>T c.(5929-5931)Gtt>Ttt p.V1977F RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1977 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TTCACCAAAGGTTGAGACGAC 0.373000 8 19 0.000673444 0.000711885 0.361761 1 0 ZNF793 390927 broad.mit.edu 37 19 38028095 38028095 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:38028095G>T ENST00000445217.1 + 4 570 c.535G>T c.(535-537)Ggt>Tgt p.G179C ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.G179C|ZNF793_ENST00000542455.1_Missense_Mutation_p.G179C Q6ZN11 ZN793_HUMAN zinc finger protein 793 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATAAATCATGGTAGACGACC 0.408000 5 9 0.000602214 0.00063762 0.184627 1 0 GHDC 84514 broad.mit.edu 37 17 40344701 40344701 + Silent SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:40344701T>A ENST00000301671.8 - 4 888 c.447A>T c.(445-447)ggA>ggT p.G149G GHDC_ENST00000414034.3_Silent_p.G149G|GHDC_ENST00000593209.1_Silent_p.G149G|GHDC_ENST00000587427.1_Silent_p.G149G|GHDC_ENST00000436923.2_Silent_p.G149G|GHDC_ENST00000428494.2_Silent_p.G110G Q8N2G8 GHDC_HUMAN GH3 domain containing 149 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) GGGCAGTGCGTCCCTGAGCCA 0.627000 32 56 0 0 0.834066 0 0 ESPNP 284729 broad.mit.edu 37 1 17026500 17026500 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:17026500C>A ENST00000492551.1 - 0 1185 NR_026567.1 CCGTCGTGGCCGTCGCAGGAG 0.721000 3 25 0.00909568 0.00932367 0.150653 1 0 TRBV7-8 28590 broad.mit.edu 37 7 142099915 142099915 + RNA SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142099915C>T ENST00000390359.3 - 0 62 CCAGGACCACCCAGCAGAGGA 0.532000 53 101 0 0 0.870114 0 0 UTP20 27340 broad.mit.edu 37 12 101723139 101723139 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:101723139A>G ENST00000261637.4 + 27 3503 c.3329A>G c.(3328-3330)cAt>cGt p.H1110R NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1110 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AACATTAGTCATCTGATCAGC 0.408000 96 60 0 0 0.870114 0 0 CRISP1 167 broad.mit.edu 37 6 49803149 49803149 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:49803149G>T ENST00000335847.4 - 8 731 c.630C>A c.(628-630)ccC>ccA p.P210P CRISP1_ENST00000355791.2_Silent_p.P210P|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000505118.1_Silent_p.P210P|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000507853.1_3'UTR NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 210 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) AGTAGATGCAGGGGTTAGCTG 0.363000 27 84 6.04164e-23 9.97456e-23 0.750413 1 0 LANCL2 55915 broad.mit.edu 37 7 55467690 55467690 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:55467690G>T ENST00000254770.2 + 4 1149 c.571G>T c.(571-573)Gac>Tac p.D191Y LANCL2_ENST00000486376.1_3'UTR NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 191 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) CCAAGAATCAGACCTTCCTGA 0.438000 25 149 2.12542e-12 2.83052e-12 0.706142 1 0 SLC8A3 6547 broad.mit.edu 37 14 70515484 70515484 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:70515484C>A ENST00000533541.1 - 4 716 c.478G>T c.(478-480)Ggt>Tgt p.G160C SLC8A3_ENST00000381269.2_Splice_Site_p.D803_splice|SLC8A3_ENST00000357887.3_Splice_Site_p.D801_splice|SLC8A3_ENST00000528359.1_Splice_Site_p.D801_splice|SLC8A3_ENST00000534137.1_Splice_Site_p.D800_splice|SLC8A3_ENST00000216568.7_Splice_Site_p.D174_splice|SLC8A3_ENST00000394330.2_Splice_Site_p.D160_splice|SLC8A3_ENST00000356921.2_Splice_Site_p.D797_splice P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 0 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCACTCTCACCTGGGACAGAG 0.498000 5 19 0.00116845 0.00122524 0.217242 1 0 SEL1L2 80343 broad.mit.edu 37 20 13845876 13845876 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:13845876T>C ENST00000284951.5 - 17 1656 c.1582A>G c.(1582-1584)Att>Gtt p.I528V SEL1L2_ENST00000378072.5_Silent_p.T472T|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 528 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TTTTCAAGAATGTTAGCCTTT 0.408000 12 30 0 0 0.411799 0 0 DOCK10 55619 broad.mit.edu 37 2 225738796 225738796 + Nonsense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:225738796T>A ENST00000409592.3 - 11 1269 c.1156A>T c.(1156-1158)Aag>Tag p.K386* DOCK10_ENST00000258390.7_Nonsense_Mutation_p.K392* Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 392 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATGATTCTCTTGGCAGCTTTT 0.368000 10 8 0 0 0.361761 0 0 ZNF304 57343 broad.mit.edu 37 19 57867855 57867855 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:57867855C>T ENST00000391705.3 + 4 902 c.618C>T c.(616-618)caC>caT p.H206H ZNF304_ENST00000443917.2_Silent_p.H253H|ZNF304_ENST00000598744.1_Silent_p.H164H|ZNF304_ENST00000282286.5_Silent_p.H206H NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CTTTCCCACACAGCTCCAGTC 0.498000 25 56 0 0 0.667858 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61404464 61404464 + RNA SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:61404464A>T ENST00000496593.1 + 0 1068 NR_002775.2 GCTGCTGGCCAATAAGGTGCC 0.572000 7 22 0 0 0.307466 0 0 TTLL9 164395 broad.mit.edu 37 20 30497722 30497722 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:30497722G>T ENST00000375938.4 + 6 754 c.501G>T c.(499-501)aaG>aaT p.K167N TTLL9_ENST00000375921.2_Missense_Mutation_p.K117N|TTLL9_ENST00000310998.4_Missense_Mutation_p.K117N|TTLL9_ENST00000375934.4_Missense_Mutation_p.K149N|TTLL9_ENST00000535842.1_Missense_Mutation_p.K167N|TTLL9_ENST00000375922.4_Missense_Mutation_p.K117N Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 167 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGATCATGAAGCCTGTGAGTG 0.542000 12 43 1.05317e-09 1.30269e-09 0.457914 1 0 OR51A2 401667 broad.mit.edu 37 11 4976326 4976326 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:4976326G>A ENST00000380371.1 - 1 617 c.618C>T c.(616-618)ctC>ctT p.L206L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATAAGGCAGAGTGCTCCAA 0.433000 23 24 0 0 0.796494 0 0 TCL1B 9623 broad.mit.edu 37 14 96157239 96157239 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:96157239G>C ENST00000340722.7 + 2 380 c.329G>C c.(328-330)gGc>gCc p.G110A RP11-1070N10.6_ENST00000461160.1_RNA NM_004918.3 NP_004909.1 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 110 cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GCAGACCATGGCCAGGCAAGT 0.627000 21 47 0 0 0.654019 0 0 OR5D16 390144 broad.mit.edu 37 11 55607014 55607014 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55607014G>T ENST00000378396.1 + 1 787 c.787G>T c.(787-789)Gta>Tta p.V263L NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CCTCTACTGTGTACCCAACTC 0.527000 61 73 2.72615e-36 5.04377e-36 0.870114 1 0 AHNAK 79026 broad.mit.edu 37 11 62293114 62293114 + Silent SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:62293114G>C ENST00000378024.4 - 5 9049 c.8775C>G c.(8773-8775)gtC>gtG p.V2925V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2925 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGGGCCTGAGACATCAACGT 0.502000 73 180 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179634582 179634582 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179634582T>C ENST00000589042.1 - 37 8950 c.8726A>G c.(8725-8727)aAt>aGt p.N2909S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N2863S|TTN_ENST00000460472.2_Missense_Mutation_p.N2863S|TTN_ENST00000342175.6_Missense_Mutation_p.N2863S|TTN_ENST00000342992.6_Missense_Mutation_p.N2909S|TTN_ENST00000591111.1_Missense_Mutation_p.N2909S|TTN_ENST00000360870.5_Missense_Mutation_p.N2909S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2647 Ig-like 16. 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) GGAAGGGACATTGAAGTGGGA 0.408000 33 109 0 0 0.796494 0 0 FAM171B 165215 broad.mit.edu 37 2 187627072 187627072 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:187627072C>G ENST00000304698.5 + 8 2206 c.2003C>G c.(2002-2004)cCg>cGg p.P668R NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 668 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AAGCCCTCCCCGCATCCCAGA 0.483000 30 64 0 0 0.779181 0 0 TRPC3 7222 broad.mit.edu 37 4 122824058 122824058 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:122824058C>A ENST00000264811.5 - 8 2611 c.2193G>T c.(2191-2193)agG>agT p.R731S TRPC3_ENST00000379645.3_Missense_Mutation_p.R804S|TRPC3_ENST00000513531.1_Missense_Mutation_p.R676S NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 719 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GAAGCCTTCTCCTTCTGCATT 0.363000 11 63 1.08611e-07 1.27134e-07 0.387290 1 0 P4HA1 5033 broad.mit.edu 37 10 74810857 74810857 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:74810857T>A ENST00000412021.2 - 8 1187 c.854A>T c.(853-855)gAg>gTg p.E285V P4HA1_ENST00000440381.1_Missense_Mutation_p.E285V|P4HA1_ENST00000373008.2_Missense_Mutation_p.E285V|P4HA1_ENST00000263556.3_Missense_Mutation_p.E285V|P4HA1_ENST00000394890.2_Missense_Mutation_p.E285V|P4HA1_ENST00000307116.2_Missense_Mutation_p.E285V NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 285 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CTTCTGTCTCTCTGGCAGGTA 0.413000 16 280 0 0 0.608945 0 0 SMR3A 26952 broad.mit.edu 37 4 71232604 71232604 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:71232604C>G ENST00000226460.4 + 3 394 c.298C>G c.(298-300)Cca>Gca p.P100A NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 100 Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) TCCTTATGGCCCAGGTTATCC 0.542000 79 98 0 0 0.870114 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698857 111698857 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:111698857C>A ENST00000340433.2 + 1 1131 c.901C>A c.(901-903)Ccg>Acg p.P301T NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 301 nucleic acid binding|zinc ion binding p.P301S(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 TTCTCGAGCTCCGGCAACGAC 0.478000 15 12 8.60227e-14 1.19253e-13 0.500413 1 0 CCDC22 28952 broad.mit.edu 37 X 49105346 49105346 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:49105346C>T ENST00000376227.3 + 13 1670 c.1500C>T c.(1498-1500)atC>atT p.I500I NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 500 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 TCCTGGAGATCGTGGGCAACA 0.607000 3 9 0 0 0.115264 0 0 LAMC3 10319 broad.mit.edu 37 9 133942393 133942393 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:133942393G>A ENST00000361069.4 + 14 2527 c.2394G>A c.(2392-2394)ctG>ctA p.L798L LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 798 Laminin EGF-like 7. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GGGACCCGCTGGGGCTCTTTG 0.652000 29 45 0 0 0.740014 0 0 MYT1L 23040 broad.mit.edu 37 2 1983000 1983000 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:1983000C>A ENST00000399161.2 - 8 837 c.e8-1 MYT1L_ENST00000428368.2_Splice_Site NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGTGGGACAGCTGCAACAGGA 0.542000 5 44 5.9392e-07 6.82591e-07 0.217242 1 0 OR2M2 391194 broad.mit.edu 37 1 248343813 248343813 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248343813C>A ENST00000359682.2 + 1 526 c.526C>A c.(526-528)Cac>Aac p.H176N NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGAAATAGCCCACTTCTTCTG 0.418000 52 170 3.8688e-20 6.08043e-20 0.870114 1 0 FUBP1 8880 broad.mit.edu 37 1 78444628 78444628 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:78444628C>G ENST00000370767.1 - 1 148 c.61G>C c.(61-63)Ggc>Cgc p.G21R FUBP1_ENST00000370768.2_Missense_Mutation_p.G21R|FUBP1_ENST00000436586.2_Missense_Mutation_p.G21R Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 21 Gly-rich. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 ccaccaccgccgccaccaccg 0.602000 """F, N""" oligodendroglioma 39 41 0 0 0.804634 0 0 LDB1 8861 broad.mit.edu 37 10 103870879 103870879 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:103870879G>A ENST00000361198.5 - 4 711 c.88C>T c.(88-90)Caa>Taa p.Q30* LDB1_ENST00000425280.1_Nonsense_Mutation_p.Q66*|LDB1_ENST00000490751.1_5'UTR NM_003893.4 NP_003884.1 Q86U70 LDB1_HUMAN LIM domain binding 1 66 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) TAGTCAGTTTGGTTGCCATAT 0.572000 43 48 0 0 0.870114 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33623090 33623090 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:33623090C>A ENST00000252015.2 - 8 976 c.887G>T c.(886-888)gGc>gTc p.G296V TRPC4AP_ENST00000432634.2_Missense_Mutation_p.G257V|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.G296V|TRPC4AP_ENST00000539834.1_5'UTR Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 296 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) CTCAACAAAGCCAGGAATGCT 0.498000 5 58 0.014758 0.0150571 0.184627 1 0 CPXM1 56265 broad.mit.edu 37 20 2777718 2777718 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:2777718C>A ENST00000380605.2 - 7 919 c.855G>T c.(853-855)gaG>gaT p.E285D NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 285 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ACGCAGGGGCCTCAAGGAATA 0.532000 11 27 7.93312e-07 9.07501e-07 0.457914 1 0 CSF1R 1436 broad.mit.edu 37 5 149437096 149437096 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:149437096G>T ENST00000286301.3 - 16 2483 c.2192C>A c.(2191-2193)aCt>aAt p.T731N NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 731 Protein kinase. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) ATTTGAAGAAGTGGAGACAGG 0.562000 48 32 7.10663e-31 1.27284e-30 0.870114 1 0 ATP8B2 57198 broad.mit.edu 37 1 154318803 154318803 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:154318803G>C ENST00000368489.3 + 25 2974 c.2974G>C c.(2974-2976)Gcc>Ccc p.A992P NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 978 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CATCTGCATCGCCCAGGGCAT 0.567000 34 64 0 0 0.827153 0 0 ELTD1 64123 broad.mit.edu 37 1 79392733 79392733 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:79392733A>T ENST00000370742.3 - 8 984 c.921T>A c.(919-921)ccT>ccA p.P307P NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 307 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATGAAAGCAAAGGACCAATAC 0.294000 12 47 0 0 0.681144 0 0 C2orf78 388960 broad.mit.edu 37 2 74042569 74042569 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:74042569C>A ENST00000409561.1 + 3 1340 c.1219C>A c.(1219-1221)Caa>Aaa p.Q407K NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 407 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCCTCTTGGCCAAGAGGAGCA 0.458000 7 31 0.00198382 0.0020714 0.248553 1 0 CLCN1 1180 broad.mit.edu 37 7 143018480 143018480 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:143018480G>T ENST00000343257.2 + 4 543 c.456G>T c.(454-456)caG>caT p.Q152H NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 152 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCTACGCGCAGATGCAGCCCA 0.617000 38 48 5.59293e-11 7.23726e-11 0.827153 1 0 CNRIP1 25927 broad.mit.edu 37 2 68544407 68544407 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:68544407A>C ENST00000263655.3 - 2 817 c.212T>G c.(211-213)cTg>cGg p.L71R CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Missense_Mutation_p.L71R|CNRIP1_ENST00000409862.1_Missense_Mutation_p.L71R NM_015463.2 NP_056278.1 Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 71 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 CTTCAGTTCCAGTGGGACAAG 0.483000 13 82 0 0 0.557998 0 0 TMEM181 57583 broad.mit.edu 37 6 159006335 159006335 + Splice_Site SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:159006335G>T ENST00000367090.3 + 5 681 c.e5-1 NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) TTCTTTTGTAGAAACTTCTAT 0.433000 17 19 0.000132079 0.000143007 0.575678 1 0 NLGN1 22871 broad.mit.edu 37 3 173996839 173996839 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:173996839G>T ENST00000457714.1 + 6 1477 c.1048G>T c.(1048-1050)Gct>Tct p.A350S NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.A390S|NLGN1_ENST00000361589.4_Missense_Mutation_p.A350S|NLGN1_ENST00000545397.1_Missense_Mutation_p.A350S NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 367 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TATTCAACCAGCTCGATACCA 0.423000 75 178 4.92795e-40 9.28365e-40 0.870114 1 0 PTPRT 11122 broad.mit.edu 37 20 40980791 40980791 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:40980791G>T ENST00000373198.3 - 10 1930 c.1695C>A c.(1693-1695)acC>acA p.T565T PTPRT_ENST00000373201.1_Silent_p.T565T|PTPRT_ENST00000373187.1_Silent_p.T565T|PTPRT_ENST00000373184.1_Silent_p.T565T|PTPRT_ENST00000373190.1_Silent_p.T565T|PTPRT_ENST00000373193.3_Silent_p.T565T|PTPRT_ENST00000356100.2_Silent_p.T565T NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 565 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGCCTTGATGGTGAAGGAAT 0.527000 27 83 9.39395e-14 1.29679e-13 0.706142 1 0 AQP7 364 broad.mit.edu 37 9 33385655 33385655 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:33385655C>G ENST00000537089.1 - 6 777 c.459G>C c.(457-459)caG>caC p.Q153H AQP7_ENST00000541274.1_Missense_Mutation_p.G114R|AQP7_ENST00000539936.1_Missense_Mutation_p.Q245H|AQP7_ENST00000377425.4_Missense_Mutation_p.Q188H O14520 AQP7_HUMAN aquaporin 7 245 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) ACCTGAAGACCTGTTTGCCCC 0.597000 14 151 0 0 0.479597 0 0 COL4A1 1282 broad.mit.edu 37 13 110830419 110830419 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:110830419C>G ENST00000375820.4 - 32 2739 c.2618G>C c.(2617-2619)gGg>gCg p.G873A NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 873 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) ACCTGGAAACCCAGGAATCCC 0.522000 30 41 0 0 0.788014 0 0 SF3B4 10262 broad.mit.edu 37 1 149895599 149895599 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:149895599C>A ENST00000271628.8 - 6 1694 c.1110G>T c.(1108-1110)ccG>ccT p.P370P NM_005850.4 NP_005841.1 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4, 49kDa 370 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GCATACCATGCGGAGGCATAG 0.577000 11 16 2.27111e-07 2.64111e-07 0.411799 1 0 ANK2 287 broad.mit.edu 37 4 114276281 114276281 + Silent SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:114276281A>T ENST00000357077.4 + 38 6560 c.6507A>T c.(6505-6507)gtA>gtT p.V2169V ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.V2136V|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2136 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TAGACCAAGTACTCACTAGTC 0.438000 25 43 0 0 0.693898 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768516 140768516 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140768516G>T ENST00000519479.1 + 1 1065 c.1065G>T c.(1063-1065)atG>atT p.M355I PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTAATTATGGAGGACGCCG 0.458000 42 38 1.30409e-13 1.79267e-13 0.870114 1 0 PCDHB5 26167 broad.mit.edu 37 5 140515300 140515300 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140515300T>A ENST00000231134.5 + 1 501 c.284T>A c.(283-285)aTg>aAg p.M95K NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 95 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGGAGGTGATGTGCGGGGCG 0.443000 38 38 0 0 0.853193 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 64 0 0 0.150653 0 0 SYCP1 6847 broad.mit.edu 37 1 115428197 115428197 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:115428197C>A ENST00000369522.3 + 13 1192 c.952C>A c.(952-954)Cat>Aat p.H318N SYCP1_ENST00000369518.1_Missense_Mutation_p.H318N NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 318 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGAGAAACAGCATCATTTGAC 0.279000 11 61 6.81908e-15 9.76357e-15 0.457914 1 0 PEG3 5178 broad.mit.edu 37 19 57328231 57328231 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:57328231G>T ENST00000326441.9 - 10 1942 c.1579C>A c.(1579-1581)Cat>Aat p.H527N PEG3_ENST00000598410.1_Missense_Mutation_p.H403N|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H401N|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H527N|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 527 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTCTAGCATGAATCTTCCGA 0.438000 26 104 1.56442e-22 2.56769e-22 0.760397 1 0 ADCK3 56997 broad.mit.edu 37 1 227153107 227153107 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:227153107A>T ENST00000366779.1 + 8 3355 c.584A>T c.(583-585)cAg>cTg p.Q195L ADCK3_ENST00000366777.3_Missense_Mutation_p.Q195L|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366776.1_Missense_Mutation_p.Q120L|ADCK3_ENST00000366775.1_Missense_Mutation_p.Q40L|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.Q143L Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 195 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CAGCACAAACAGACGGTGCGT 0.627000 3 10 0 0 0.115264 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757145 56757145 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:56757145G>C ENST00000326855.2 + 1 799 c.757G>C c.(757-759)Ggg>Cgg p.G253R NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 CATTTTCTATGGGACACTCTC 0.398000 61 66 0 0 0.870114 0 0 ZFP57 346171 broad.mit.edu 37 6 29640954 29640954 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:29640954G>A ENST00000376883.1 - 6 1285 c.874C>T c.(874-876)Cag>Tag p.Q292* ZFP57_ENST00000488757.1_Nonsense_Mutation_p.Q312*|ZFP57_ENST00000376881.3_Nonsense_Mutation_p.Q292* Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 228 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 ATGGACCTCTGGCTTCTGGCG 0.547000 10 138 0 0 0.411799 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059603 11059603 + Missense_Mutation SNP G G T rs144322561 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:11059603G>T ENST00000287766.4 + 4 734 c.313G>T c.(313-315)Ggc>Tgc p.G105C SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 105 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.G105S(1) breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GTGCTCCCTGGGCCAGTACAC 0.592000 110 54 4.20686e-72 8.37532e-72 0.870114 1 0 SNHG14 104472715 broad.mit.edu 37 15 25456951 25456951 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:25456951G>T ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TTGGGTCAATGATGAGAACCC 0.527000 41 216 1.22102e-19 1.90076e-19 0.870114 1 0 TBX5 6910 broad.mit.edu 37 12 114837434 114837434 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:114837434C>A ENST00000310346.4 - 4 912 c.246G>T c.(244-246)cgG>cgT p.R82R TBX5_ENST00000405440.2_Silent_p.R82R|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Silent_p.R82R|TBX5_ENST00000349716.5_Silent_p.R32R NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 82 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TGGGAAACATCCGCCTAAGAG 0.473000 4 158 0.217242 0.218355 0.217242 1 0 LINGO1 84894 broad.mit.edu 37 15 77906831 77906831 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:77906831C>A ENST00000355300.6 - 2 1592 c.1418G>T c.(1417-1419)cGg>cTg p.R473L LINGO1_ENST00000561030.1_Missense_Mutation_p.R467L NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 473 Ig-like C2-type. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GACTGTGAGCCGCCCATTGCT 0.667000 21 5 7.88262e-20 1.23197e-19 0.654019 1 0 RPGRIP1L 23322 broad.mit.edu 37 16 53679816 53679816 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:53679816G>A ENST00000262135.4 - 17 2497 c.2404C>T c.(2404-2406)Ctg>Ttg p.L802L RPGRIP1L_ENST00000379925.3_Silent_p.L802L|RPGRIP1L_ENST00000564374.1_Silent_p.L802L|RPGRIP1L_ENST00000563746.1_Silent_p.L802L NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 802 C2 2. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CGGGACTGCAGGTGGTTGCAA 0.433000 36 91 0 0 0.812448 0 0 GLRB 2743 broad.mit.edu 37 4 158074127 158074127 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:158074127G>T ENST00000264428.4 + 9 1432 c.1162G>T c.(1162-1164)Gga>Tga p.G388* GLRB_ENST00000509282.1_Nonsense_Mutation_p.G388*|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 388 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TACTGTGAATGGAACAGGGAC 0.418000 19 40 4.47668e-21 7.14449e-21 0.667858 1 0 NCOR2 9612 broad.mit.edu 37 12 124862823 124862823 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:124862823G>A ENST00000356219.3 - 19 2282 c.2127C>T c.(2125-2127)ggC>ggT p.G709G NCOR2_ENST00000405201.1_Silent_p.G709G|NCOR2_ENST00000397355.1_Silent_p.G709G|NCOR2_ENST00000404121.2_Silent_p.G279G|NCOR2_ENST00000404621.1_Silent_p.G708G|NCOR2_ENST00000429285.2_Silent_p.G708G NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 709 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TTCCGCTCACGCCCGACGCCT 0.672000 21 126 0 0 0.624587 0 0 MON1B 22879 broad.mit.edu 37 16 77228706 77228706 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:77228706C>T ENST00000248248.3 + 4 1300 c.950C>T c.(949-951)gCg>gTg p.A317V MON1B_ENST00000439557.2_Missense_Mutation_p.A208V|MON1B_ENST00000545553.1_Missense_Mutation_p.A171V|MON1B_ENST00000320859.6_Intron NM_014940.2 NP_055755.1 Q7L1V2 MON1B_HUMAN MON1 secretory trafficking family member B 317 protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 17 CCAGCCTTTGCGGCGGGTGAG 0.627000 3 48 0 0 0.115264 0 0 RABGAP1 23637 broad.mit.edu 37 9 125772663 125772663 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr9:125772663G>A ENST00000373647.4 + 11 1539 c.1405G>A c.(1405-1407)Gac>Aac p.D469N NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 469 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 GAATAATACTGACACTTTATA 0.343000 34 45 0 0 0.819951 0 0 TG 7038 broad.mit.edu 37 8 133883768 133883768 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:133883768G>T ENST00000220616.4 + 4 490 c.450G>T c.(448-450)ggG>ggT p.G150G TG_ENST00000377869.1_Silent_p.G150G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 150 Thyroglobulin type-1 2. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGTGTATGGGACCCGCCAGC 0.607000 44 25 4.6707e-30 8.30488e-30 0.870114 1 0 ANGPTL5 253935 broad.mit.edu 37 11 101762182 101762182 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:101762182C>G ENST00000334289.3 - 9 1590 c.995G>C c.(994-996)gGc>gCc p.G332A NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 332 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) AAACCACCAGCCGGTCTTGTT 0.473000 60 176 0 0 0.870114 0 0 C14orf177 283598 broad.mit.edu 37 14 99183608 99183608 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:99183608G>T ENST00000325812.2 + 4 794 c.375G>T c.(373-375)atG>atT p.M125I NM_182560.2 NP_872366.2 Q52M58 CN177_HUMAN chromosome 14 open reading frame 177 125 endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 13 Melanoma(154;0.128) TGTCACAGATGTAACTATTCT 0.408000 37 53 7.05121e-23 1.16315e-22 0.853193 1 0 BAGE2 85319 broad.mit.edu 37 21 11047594 11047594 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr21:11047594G>T ENST00000470054.1 - 0 660 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) TCTCCCGATTGTCTAAAAAGT 0.368000 34 355 7.04047e-22 1.14313e-21 0.812448 1 0 NGDN 25983 broad.mit.edu 37 14 23944502 23944502 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:23944502G>T ENST00000397154.3 + 4 280 c.267G>T c.(265-267)ctG>ctT p.L89L NGDN_ENST00000408901.3_Silent_p.L89L Q8NEJ9 NGDN_HUMAN neuroguidin, EIF4E binding protein 89 Necessary for interaction with EIF4E (By similarity). regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 12 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TTTTGAGACTGGTGGAGATTC 0.453000 25 38 1.39806e-14 1.97296e-14 0.729181 1 0 NELL1 4745 broad.mit.edu 37 11 21135251 21135251 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:21135251T>A ENST00000298925.5 + 14 1654 c.1501T>A c.(1501-1503)Tct>Act p.S501T NELL1_ENST00000325319.5_Missense_Mutation_p.S416T|NELL1_ENST00000532434.1_Missense_Mutation_p.S473T|NELL1_ENST00000357134.5_Missense_Mutation_p.S473T Q92832 NELL1_HUMAN NEL-like 1 (chicken) 473 EGF-like 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GGATGACTTCTCTTGTACAGG 0.403000 60 45 0 0 0.870114 0 0 F2RL2 2151 broad.mit.edu 37 5 75913853 75913853 + Missense_Mutation SNP G G T rs113440427 byFrequency TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:75913853G>T ENST00000296641.4 - 2 882 c.679C>A c.(679-681)Cca>Aca p.P227T IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.P205T|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 227 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) ATGAAAAATGGCAGCATATAT 0.488000 18 15 3.41278e-10 4.30823e-10 0.520397 1 0 OXR1 55074 broad.mit.edu 37 8 107691473 107691473 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:107691473G>T ENST00000445937.1 + 4 517 c.256G>T c.(256-258)Gga>Tga p.G86* OXR1_ENST00000517566.2_Nonsense_Mutation_p.G86*|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Nonsense_Mutation_p.G19*|OXR1_ENST00000312046.6_Nonsense_Mutation_p.G79*|OXR1_ENST00000442977.2_Nonsense_Mutation_p.G87*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.G86* NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 87 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) CAAGAAAGATGGAAGACGAAT 0.338000 45 34 1.95512e-22 3.20092e-22 0.870114 1 0 SF3B1 23451 broad.mit.edu 37 2 198281636 198281636 + Splice_Site SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:198281636C>G ENST00000335508.5 - 6 587 c.e6-1 SF3B1_ENST00000409915.4_Splice_Site NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TAATTTCTCGCTGAAAAAAAC 0.393000 Mis myelodysplastic syndrome 16 78 0 0 0.575678 0 0 LRRC14B 389257 broad.mit.edu 37 5 195088 195088 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:195088C>G ENST00000328278.3 + 2 1193 c.1165C>G c.(1165-1167)Cgg>Ggg p.R389G NM_001080478.1 NP_001073947.1 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 389 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 10 CCCCTGCCACCGGCTGCGCCA 0.672000 7 6 0 0 0.278610 0 0 DDX4 54514 broad.mit.edu 37 5 55086461 55086461 + Silent SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:55086461A>G ENST00000505374.1 + 16 1322 c.1230A>G c.(1228-1230)cgA>cgG p.R410R DDX4_ENST00000354991.5_Silent_p.R376R|DDX4_ENST00000353507.5_Silent_p.R376R|DDX4_ENST00000511853.1_Silent_p.R261R|DDX4_ENST00000514278.2_Silent_p.R390R NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 410 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ATTCAATTCGACAAATAGTAC 0.348000 72 53 0 0 0.870114 0 0 SERPINA3 12 broad.mit.edu 37 14 95085752 95085752 + Missense_Mutation SNP A A C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:95085752A>C ENST00000553947.1 + 6 1827 c.939A>C c.(937-939)gaA>gaC p.E313D SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E288D|SERPINA3_ENST00000482740.1_Missense_Mutation_p.E70D|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E288D|SERPINA3_ENST00000467132.1_Missense_Mutation_p.E288D P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 288 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AGGAAGTGGAAGCCATGCTGC 0.577000 11 67 0 0 0.411799 0 0 SULF2 55959 broad.mit.edu 37 20 46305285 46305285 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:46305285G>T ENST00000359930.4 - 10 2184 c.1333C>A c.(1333-1335)Ctg>Atg p.L445M SULF2_ENST00000484875.1_Missense_Mutation_p.L445M|SULF2_ENST00000467815.1_Missense_Mutation_p.L445M|SULF2_ENST00000361612.4_Missense_Mutation_p.L445M NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 445 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CGCTGACACAGGTCCTTCACA 0.602000 8 11 5.4927e-09 6.63927e-09 0.307466 1 0 ZP4 57829 broad.mit.edu 37 1 238053194 238053194 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:238053194G>T ENST00000366570.4 - 3 531 c.373C>A c.(373-375)Ctg>Atg p.L125M RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 125 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CACTTGAGCAGCTTCCTCTCT 0.562000 46 156 3.53049e-34 6.45885e-34 0.870114 1 0 USP24 23358 broad.mit.edu 37 1 55562681 55562681 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:55562681G>A ENST00000294383.6 - 49 5879 c.5880C>T c.(5878-5880)atC>atT p.I1960I USP24_ENST00000407756.1_Silent_p.I1800I NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1960 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CACTGTGTACGATGACACCGA 0.527000 15 19 0 0 0.624587 0 0 STON2 85439 broad.mit.edu 37 14 81743644 81743644 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:81743644G>A ENST00000555447.1 - 6 2423 c.2011C>T c.(2011-2013)Cgg>Tgg p.R671W STON2_ENST00000267540.2_Missense_Mutation_p.R671W NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 671 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGCTCAAACCGGCACGCATCC 0.522000 48 81 0 0 0.870114 0 0 ALX4 60529 broad.mit.edu 37 11 44297061 44297061 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:44297061G>T ENST00000329255.3 - 2 717 c.614C>A c.(613-615)gCc>gAc p.A205D NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 205 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 CTCTGAGTCGGCCTTCTCCAA 0.622000 66 81 5.14759e-42 9.76301e-42 0.870114 1 0 SERPINB11 89778 broad.mit.edu 37 18 61383336 61383336 + RNA SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:61383336C>A ENST00000544088.1 + 0 487 SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GAACAGTCTACAGAAGAAACG 0.343000 14 10 8.34094e-07 9.53597e-07 0.575678 1 0 LRIT2 340745 broad.mit.edu 37 10 85984181 85984181 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:85984181C>A ENST00000372113.4 - 2 805 c.800G>T c.(799-801)gGa>gTa p.G267V LRIT2_ENST00000538192.1_Missense_Mutation_p.G267V NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 267 Ig-like. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 CACATTCTGTCCTGCCCGGAT 0.527000 46 50 5.12918e-33 9.30552e-33 0.870114 1 0 MKL2 57496 broad.mit.edu 37 16 14340988 14340988 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:14340988C>T ENST00000571589.1 + 12 2043 c.1871C>T c.(1870-1872)tCt>tTt p.S624F MKL2_ENST00000318282.5_Missense_Mutation_p.S624F|MKL2_ENST00000341243.5_Missense_Mutation_p.S613F|MKL2_ENST00000574045.1_Missense_Mutation_p.S624F NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 613 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCAGGTCATTCTGTCAAGTCA 0.587000 21 35 0 0 0.654019 0 0 FBLN1 2192 broad.mit.edu 37 22 45914640 45914640 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:45914640C>T ENST00000348697.2 + 2 305 c.158C>T c.(157-159)cCa>cTa p.P53L FBLN1_ENST00000340923.5_Missense_Mutation_p.P53L|FBLN1_ENST00000327858.6_Missense_Mutation_p.P53L|FBLN1_ENST00000262722.7_Missense_Mutation_p.P53L|FBLN1_ENST00000442170.2_Missense_Mutation_p.P53L|FBLN1_ENST00000402984.3_Missense_Mutation_p.P53L P23142 FBLN1_HUMAN fibulin 1 53 Anaphylatoxin-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGCTCGCTGCCATATGCTACG 0.552000 7 17 0 0 0.335167 0 0 MUC17 140453 broad.mit.edu 37 7 100699540 100699540 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:100699540C>A ENST00000306151.4 + 12 13493 c.13429C>A c.(13429-13431)Cct>Act p.P4477T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4477 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACACATAGACCCTGAAACAAA 0.493000 15 56 1.99824e-07 2.32792e-07 0.520397 1 0 SP140 11262 broad.mit.edu 37 2 231155274 231155274 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:231155274A>G ENST00000392045.3 + 19 1934 c.1820A>G c.(1819-1821)cAg>cGg p.Q607R SP140_ENST00000350136.5_Missense_Mutation_p.Q476R|SP140_ENST00000343805.6_Missense_Mutation_p.Q547R|SP140_ENST00000417495.3_Missense_Mutation_p.Q493R|SP140_ENST00000420434.3_Missense_Mutation_p.Q580R|SP140_ENST00000486687.2_Missense_Mutation_p.Q531R NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 607 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAGAAATTGCAGCAAGGTAGG 0.403000 20 36 0 0 0.608945 0 0 AJAP1 55966 broad.mit.edu 37 1 4772524 4772524 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:4772524G>T ENST00000378191.4 + 2 975 c.594G>T c.(592-594)ccG>ccT p.P198P AJAP1_ENST00000378190.3_Silent_p.P198P NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 198 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACACATTTCCGGGCGTTTACG 0.657000 6 10 5.18039e-06 5.82757e-06 0.278610 1 0 VCAN 1462 broad.mit.edu 37 5 82815327 82815327 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:82815327T>C ENST00000265077.3 + 7 1767 c.1202T>C c.(1201-1203)aTt>aCt p.I401T VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.I353T|VCAN_ENST00000342785.4_Missense_Mutation_p.I401T NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 401 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GTGGGAAATATTGTCAGTTTT 0.443000 47 37 0 0 0.870114 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131571 142131571 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142131571G>T ENST00000390375.2 - 0 224 ATAAACTGGGGCCCCTGACCC 0.507000 30 65 3.90053e-15 5.61756e-15 0.760397 1 0 MUC16 94025 broad.mit.edu 37 19 9057435 9057435 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:9057435G>T ENST00000397910.4 - 3 30214 c.30011C>A c.(30010-30012)cCt>cAt p.P10004H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10006 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGATTTTCAGGACTCCTACT 0.458000 13 43 0.000151284 0.000163441 0.435327 1 0 GPR50 9248 broad.mit.edu 37 X 150345153 150345153 + Translation_Start_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:150345153C>A ENST00000218316.3 + 0 29 GPR50-AS1_ENST00000454196.1_RNA NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGCTGATCCTGAGCCTGC 0.577000 38 14 3.38236e-24 5.67e-24 0.827153 1 0 TMEM106A 113277 broad.mit.edu 37 17 41367886 41367886 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:41367886G>C ENST00000331615.3 + 5 592 c.355G>C c.(355-357)Gtc>Ctc p.V119L TMEM106A_ENST00000588659.1_Missense_Mutation_p.V119L|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.V71L|TMEM106A_ENST00000536052.1_Missense_Mutation_p.V119L NM_145041.1 NP_659478.1 Q96A25 T106A_HUMAN transmembrane protein 106A 119 integral to membrane NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) TCCCCGGTCCGTCATTGTGCA 0.562000 81 227 0 0 0.870114 0 0 GCN1L1 10985 broad.mit.edu 37 12 120616755 120616755 + Splice_Site SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:120616755T>A ENST00000300648.6 - 6 439 c.e6-2 NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CACTTCCACCTGCCAGGACCA 0.572000 23 13 0 0 0.681144 0 0 ZNF655 79027 broad.mit.edu 37 7 99169920 99169920 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:99169920G>T ENST00000424881.1 + 4 514 c.294G>T c.(292-294)tcG>tcT p.S98S ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Silent_p.S63S|ZNF655_ENST00000252713.4_Silent_p.S63S|ZNF655_ENST00000493277.1_Silent_p.S98S NM_001083956.1|NM_001085368.1 NP_001077425.1|NP_001078837.1 Q8N720 ZN655_HUMAN zinc finger protein 655 63 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AGAAAATTTCGGAAGAAGTGC 0.378000 42 54 9.52127e-25 1.61262e-24 0.870114 1 0 KCNG1 3755 broad.mit.edu 37 20 49620726 49620726 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:49620726G>T ENST00000371571.4 - 3 1677 c.1392C>A c.(1390-1392)tcC>tcA p.S464S RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 464 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGTAGGAGCGGGAGAAGGTGT 0.617000 12 56 0.0167234 0.0170535 0.435327 1 0 PLCB2 5330 broad.mit.edu 37 15 40590836 40590836 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:40590836C>A ENST00000260402.3 - 10 1173 c.924G>T c.(922-924)ctG>ctT p.L308L PLCB2_ENST00000456256.2_Silent_p.L308L|PLCB2_ENST00000557821.1_Silent_p.L308L NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 308 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GGTGGAGCAGCAGCTTGTCCT 0.572000 26 17 3.73988e-18 5.69984e-18 0.706142 1 0 PEAR1 375033 broad.mit.edu 37 1 156879870 156879870 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:156879870G>A ENST00000338302.3 + 14 1873 c.1648G>A c.(1648-1650)Gga>Aga p.G550R PEAR1_ENST00000292357.7_Missense_Mutation_p.G550R Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 550 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCTGTTCATGGACGCTGTCA 0.577000 OREG0013890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 104 0 0 0.870114 0 0 CENPF 1063 broad.mit.edu 37 1 214820452 214820452 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:214820452C>A ENST00000366955.3 + 13 7707 c.7539C>A c.(7537-7539)ggC>ggA p.G2513G NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2609 2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TAGAAGATGGCAAGCAGAAAC 0.408000 11 17 1.05317e-09 1.30269e-09 0.457914 1 0 ACOT12 134526 broad.mit.edu 37 5 80640015 80640015 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:80640015C>T ENST00000307624.3 - 9 972 c.944G>A c.(943-945)cGg>cAg p.R315Q ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 315 acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) AATAGCTCCCCGATAGCGTCT 0.333000 21 32 0 0 0.693898 0 0 SPTA1 6708 broad.mit.edu 37 1 158655095 158655095 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:158655095C>T ENST00000368148.3 - 2 247 c.67G>A c.(67-69)Gag>Aag p.E23K SPTA1_ENST00000368147.3_Missense_Mutation_p.E23K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 23 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.E23Q(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCCTGGATCTCTTCTGCTGTT 0.463000 5 120 0 0 0.307466 0 0 SULF2 55959 broad.mit.edu 37 20 46305829 46305829 + Nonsense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:46305829C>A ENST00000359930.4 - 9 2094 c.1243G>T c.(1243-1245)Gag>Tag p.E415* SULF2_ENST00000484875.1_Nonsense_Mutation_p.E415*|SULF2_ENST00000467815.1_Nonsense_Mutation_p.E415*|SULF2_ENST00000361612.4_Nonsense_Mutation_p.E415* NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 415 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CACCCTCTCTCCACCAAGAAG 0.582000 13 96 5.35267e-07 6.17712e-07 0.557998 1 0 ANK3 288 broad.mit.edu 37 10 61829077 61829077 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:61829077C>G ENST00000280772.1 - 37 11753 c.11562G>C c.(11560-11562)aaG>aaC p.K3854N ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3854 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 CTATCAATTCCTTTGTTTTTT 0.398000 87 72 0 0 0.870114 0 0 SEMA5B 54437 broad.mit.edu 37 3 122631808 122631808 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:122631808G>C ENST00000195173.4 - 18 2907 c.2604C>G c.(2602-2604)tgC>tgG p.C868W SEMA5B_ENST00000451055.2_Missense_Mutation_p.C923W|SEMA5B_ENST00000357599.3_Missense_Mutation_p.C869W Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 869 TSP type-1 3. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) AGCCCAGCTCGCAGTCCCGGG 0.731000 15 26 0 0 0.479597 0 0 GRIK2 2898 broad.mit.edu 37 6 102074333 102074333 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:102074333T>C ENST00000369138.1 + 3 852 c.362T>C c.(361-363)aTc>aCc p.I121T GRIK2_ENST00000421544.1_Missense_Mutation_p.I121T|GRIK2_ENST00000369134.4_Missense_Mutation_p.I72T|GRIK2_ENST00000358361.3_Missense_Mutation_p.I121T|GRIK2_ENST00000369137.3_Missense_Mutation_p.I121T|GRIK2_ENST00000318991.6_Missense_Mutation_p.I121T|GRIK2_ENST00000413795.1_Missense_Mutation_p.I121T NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 121 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) GTGCAGTCCATCTGCAATGCT 0.527000 49 47 0 0 0.870114 0 0 RABGGTB 5876 broad.mit.edu 37 1 76257940 76257940 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:76257940G>T ENST00000319942.3 + 7 725 c.654G>T c.(652-654)tgG>tgT p.W218C RABGGTB_ENST00000535300.1_Missense_Mutation_p.W44C|RABGGTB_ENST00000496055.1_3'UTR NM_004582.2 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 218 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 TTGGCTGGTGGCTTTGTGAAC 0.398000 17 95 4.35082e-09 5.29161e-09 0.592651 1 0 TECTA 7007 broad.mit.edu 37 11 121060541 121060541 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:121060541T>A ENST00000392793.1 + 23 6590 c.6319T>A c.(6319-6321)Tgc>Agc p.C2107S TECTA_ENST00000264037.2_Missense_Mutation_p.C2107S O75443 TECTA_HUMAN tectorin alpha 2107 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TGGGCCTCTCTGCAGCTGTGT 0.562000 57 88 0 0 0.870114 0 0 KIF19 124602 broad.mit.edu 37 17 72346569 72346569 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:72346569G>T ENST00000389916.4 + 11 1381 c.1243G>T c.(1243-1245)Gag>Tag p.E415* NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 415 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CGGGCAGGGTGAGAAGGCTGG 0.662000 5 11 0.27861 0.279894 0.278610 1 0 XYLT1 64131 broad.mit.edu 37 16 17211686 17211686 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:17211686C>A ENST00000261381.6 - 11 2458 c.2374G>T c.(2374-2376)Gca>Tca p.A792S NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 792 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TAGGTGGCTGCGATGACATTG 0.557000 23 93 3.65163e-15 5.26682e-15 0.706142 1 0 RADIL 55698 broad.mit.edu 37 7 4917566 4917566 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:4917566C>A ENST00000399583.3 - 2 392 c.205G>T c.(205-207)Ggg>Tgg p.G69W RADIL_ENST00000536091.1_Missense_Mutation_p.G69W NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 69 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) ACACTGTCCCCAAACACCTTC 0.672000 5 31 1.12685e-05 1.25114e-05 0.307466 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554318 140554318 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140554318C>A ENST00000231137.3 + 1 2076 c.1902C>A c.(1900-1902)gaC>gaA p.D634E NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 634 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGAGCGCGACGCAGCCAAGC 0.692000 28 399 5.43694e-19 8.37732e-19 0.812448 1 0 GRIA2 2891 broad.mit.edu 37 4 158282693 158282693 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:158282693C>T ENST00000296526.7 + 14 2620 c.2295C>T c.(2293-2295)acC>acT p.T765T GRIA2_ENST00000449365.1_Silent_p.T718T|GRIA2_ENST00000264426.9_Intron|GRIA2_ENST00000507898.1_Silent_p.T718T|GRIA2_ENST00000393815.2_Silent_p.T718T NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 765 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CGTGAAGAACCCCAGTAAATC 0.353000 12 35 0 0 0.411799 0 0 OR4K2 390431 broad.mit.edu 37 14 20345205 20345205 + Missense_Mutation SNP G G T rs139042360 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:20345205G>T ENST00000298642.2 + 1 815 c.779G>T c.(778-780)tGg>tTg p.W260L NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTACATGTGGCCACTAAGC 0.403000 25 144 9.17885e-22 1.48541e-21 0.779181 1 0 SLC26A8 116369 broad.mit.edu 37 6 35923030 35923030 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:35923030G>T ENST00000490799.1 - 17 2484 c.2131C>A c.(2131-2133)Cct>Act p.P711T SLC26A8_ENST00000355574.2_Missense_Mutation_p.P711T|SLC26A8_ENST00000394602.2_Missense_Mutation_p.P606T NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 711 Interaction with RACGAP1.|STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TCTGAGTAAGGGATGAGTGAT 0.507000 15 80 3.52763e-06 3.97745e-06 0.520397 1 0 CDCP1 64866 broad.mit.edu 37 3 45153607 45153607 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:45153607C>A ENST00000296129.1 - 3 757 c.623G>T c.(622-624)gGc>gTc p.G208V CDCP1_ENST00000425231.2_Missense_Mutation_p.G208V NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 208 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AATGCTGAAGCCGGAGACATT 0.478000 65 42 4.12397e-46 7.96004e-46 0.870114 1 0 CLIP4 79745 broad.mit.edu 37 2 29358412 29358412 + Splice_Site SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:29358412A>T ENST00000320081.5 + 6 784 c.e6-1 CLIP4_ENST00000401617.2_Splice_Site|CLIP4_ENST00000401605.1_Splice_Site|CLIP4_ENST00000404424.1_Splice_Site NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) GTTTAATTGCAGATGTGGATG 0.378000 13 57 0 0 0.500413 0 0 ARMC5 79798 broad.mit.edu 37 16 31477280 31477280 + Silent SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:31477280G>T ENST00000408912.3 + 7 2576 c.2259G>T c.(2257-2259)gcG>gcT p.A753A ARMC5_ENST00000268314.4_Silent_p.A658A|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Silent_p.A690A|ARMC5_ENST00000412665.2_Silent_p.A302A|ARMC5_ENST00000563544.1_Silent_p.A658A Q96C12 ARMC5_HUMAN armadillo repeat containing 5 658 BTB. binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 TGGCCTGCGCGCTGACCCTGC 0.642000 64 78 6.08991e-19 9.36872e-19 0.870114 1 0 SYTL2 54843 broad.mit.edu 37 11 85431930 85431930 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:85431930C>A ENST00000359152.5 - 2 4069 c.4070G>T c.(4069-4071)aGt>aTt p.S1357I SYTL2_ENST00000389960.4_Missense_Mutation_p.S511I|SYTL2_ENST00000524452.1_Missense_Mutation_p.S511I|SYTL2_ENST00000525423.1_Missense_Mutation_p.S833I|SYTL2_ENST00000528231.1_Missense_Mutation_p.S511I|SYTL2_ENST00000316356.4_Missense_Mutation_p.S512I|SYTL2_ENST00000527523.1_Missense_Mutation_p.S463I|SYTL2_ENST00000354566.3_Missense_Mutation_p.S833I NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 511 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GTCTTCTAGACTTTTGGAAGG 0.403000 16 47 0.000175454 0.000189032 0.592651 1 0 RPAP1 26015 broad.mit.edu 37 15 41810249 41810249 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:41810249C>A ENST00000561603.1 - 22 3284 c.3170G>T c.(3169-3171)tGg>tTg p.W1057L RPAP1_ENST00000304330.4_Silent_p.V1309V Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 0 Leu-rich. 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) TGACATGAGCCACAGCCACAG 0.552000 35 50 1.5731e-28 2.76207e-28 0.859065 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725983 140725983 + Nonsense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140725983C>T ENST00000253812.6 + 1 2383 c.2383C>T c.(2383-2385)Cag>Tag p.Q795* PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGATAACTCAGGATTTACT 0.418000 59 29 0 0 0.870114 0 0 ABAT 18 broad.mit.edu 37 16 8868783 8868783 + Nonsense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:8868783G>T ENST00000396600.2 + 13 1929 c.991G>T c.(991-993)Gga>Tga p.G331* ABAT_ENST00000567812.1_Nonsense_Mutation_p.G346*|ABAT_ENST00000425191.2_Nonsense_Mutation_p.G331*|ABAT_ENST00000268251.8_Nonsense_Mutation_p.G331*|ABAT_ENST00000569156.1_Nonsense_Mutation_p.G331* NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 331 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) GGTCCAGACCGGAGGAGGCTG 0.597000 9 83 3.86212e-05 4.2283e-05 0.361761 1 0 ZIC4 84107 broad.mit.edu 37 3 147120541 147120541 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:147120541A>T ENST00000383075.3 - 2 556 c.44T>A c.(43-45)cTt>cAt p.L15H ZIC4_ENST00000473123.1_Missense_Mutation_p.L15H|ZIC4_ENST00000425731.3_Missense_Mutation_p.L53H|ZIC4_ENST00000484399.1_Missense_Mutation_p.L15H|ZIC4_ENST00000525172.2_Missense_Mutation_p.L65H|ZIC4_ENST00000491672.1_Missense_Mutation_p.L15H NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 15 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GTTTCGGTAAAGCCGTAATCG 0.343000 52 112 0 0 0.870114 0 0 SLC12A5 57468 broad.mit.edu 37 20 44669089 44669089 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:44669089G>A ENST00000454036.1 + 7 835 c.759G>A c.(757-759)atG>atA p.M253I SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000372315.1_Missense_Mutation_p.M230I|SLC12A5_ENST00000243964.3_Missense_Mutation_p.M230I NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 253 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGAACAACATGCGTGTTTACG 0.542000 19 77 0 0 0.539581 0 0 CXorf48 54967 broad.mit.edu 37 X 134294449 134294449 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:134294449G>T ENST00000344129.2 - 3 537 c.311C>A c.(310-312)gCt>gAt p.A104D CXorf48_ENST00000276241.6_Missense_Mutation_p.A104D NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 104 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) TGAGGGTCCAGCACCATAAAG 0.328000 23 12 4.22769e-11 5.50329e-11 0.706142 1 0 DPYD 1806 broad.mit.edu 37 1 98015165 98015165 + Missense_Mutation SNP G G A rs72549304 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:98015165G>A ENST00000370192.3 - 12 1575 c.1475C>T c.(1474-1476)tCg>tTg p.S492L NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 492 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATCATTCACCGATTCCACTGT 0.428000 24 106 0 0 0.750413 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778528 31778528 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:31778528C>A ENST00000375654.4 - 2 1411 c.1222G>T c.(1222-1224)Gct>Tct p.A408S HSPA1L_ENST00000417199.3_Missense_Mutation_p.A408S NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 408 A -> V (in Ref. 1; AAA63228). response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 ACGCCCCCAGCCGTCTCCAGC 0.607000 28 125 7.11191e-15 1.01458e-14 0.769981 1 0 KIAA1324 57535 broad.mit.edu 37 1 109742856 109742856 + Missense_Mutation SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:109742856A>G ENST00000369939.3 + 20 2987 c.2804A>G c.(2803-2805)cAa>cGa p.Q935R KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.Q848R NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 935 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) AAAAAGAATCAAAAGTACATG 0.438000 53 80 0 0 0.870114 0 0 LOC440040 440040 broad.mit.edu 37 11 49805499 49805499 + RNA SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:49805499G>A ENST00000527477.1 + 0 1187 AGCTGCTGAAGAAGCTCACAA 0.532000 11 10 0 0 0.520397 0 0 SLC22A20 440044 broad.mit.edu 37 11 64981476 64981476 + RNA SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:64981476G>T ENST00000525437.1 + 0 166 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 CTTCACGGCCGCTGTCCCCCC 0.687000 8 16 5.50884e-06 6.17229e-06 0.411799 1 0 CDH24 64403 broad.mit.edu 37 14 23521286 23521286 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:23521286C>A ENST00000397359.3 - 9 1629 c.1370G>T c.(1369-1371)aGc>aTc p.S457I CDH24_ENST00000267383.5_Missense_Mutation_p.S457I|CDH24_ENST00000554034.1_Intron|CDH24_ENST00000487137.2_Intron NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 457 Cadherin 4. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) TGGCCCCCAGCTCCAGCCTGA 0.582000 4 10 1.024e-07 1.20366e-07 0.184627 1 0 PGA5 5222 broad.mit.edu 37 11 61017438 61017438 + Silent SNP C C T rs141863509 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:61017438C>T ENST00000312403.5 + 8 1154 c.969C>T c.(967-969)acC>acT p.T323T PGA5_ENST00000541528.1_Silent_p.T63T|PGA5_ENST00000451616.2_Silent_p.T169T|PGA4_ENST00000422676.2_Silent_p.T323T NM_014224.2 NP_055039.1 P00790 PEPA_HUMAN pepsinogen 5, group I (pepsinogen A) 323 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 TCGTCTTCACCATCAATGGAG 0.552000 8 21 0 0 0.361761 0 0 GAS7 8522 broad.mit.edu 37 17 9923301 9923301 + Splice_Site SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:9923301C>A ENST00000542249.1 - 1 158 c.18_splice c.e1+1 p.R6_splice GAS7_ENST00000579158.1_5'UTR|GAS7_ENST00000396115.1_Intron|GAS7_ENST00000432992.2_Intron|GAS7_ENST00000585266.1_Intron|GAS7_ENST00000323816.4_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Intron|GAS7_ENST00000578655.1_Intron O60861 GAS7_HUMAN growth arrest-specific 7 0 SH3. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 ATGAATTCACCCTACAGTAGC 0.507000 T MLL AML* 6 10 0.00116845 0.00122524 0.217242 1 0 ZNF615 284370 broad.mit.edu 37 19 52496450 52496450 + Missense_Mutation SNP T T G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:52496450T>G ENST00000602063.1 - 6 2228 c.1879A>C c.(1879-1881)Aat>Cat p.N627H ZNF615_ENST00000598071.1_Missense_Mutation_p.N638H|ZNF615_ENST00000376716.5_Missense_Mutation_p.N627H|ZNF615_ENST00000594083.1_Missense_Mutation_p.N638H|ZNF615_ENST00000391795.3_Missense_Mutation_p.N632H Q8N8J6 ZN615_HUMAN zinc finger protein 615 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TCACATTCATTGCATTTGTAT 0.388000 16 79 0 0 0.500413 0 0 COL4A2 1284 broad.mit.edu 37 13 111114638 111114638 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:111114638G>C ENST00000360467.5 + 24 1989 c.1683G>C c.(1681-1683)caG>caC p.Q561H COL4A2-AS2_ENST00000458403.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 561 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGCGGGGACAGCCCGGCGTCC 0.672000 15 75 0 0 0.592651 0 0 TCF7L2 6934 broad.mit.edu 37 10 114799814 114799814 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:114799814G>A ENST00000355995.4 + 5 988 c.481G>A c.(481-483)Gtc>Atc p.V161I TCF7L2_ENST00000349937.2_Missense_Mutation_p.V161I|TCF7L2_ENST00000534894.1_Missense_Mutation_p.V161I|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000355717.4_Missense_Mutation_p.V138I|TCF7L2_ENST00000543371.1_Missense_Mutation_p.V161I|TCF7L2_ENST00000536810.1_Missense_Mutation_p.V161I|TCF7L2_ENST00000538897.1_Missense_Mutation_p.V161I|TCF7L2_ENST00000352065.5_Missense_Mutation_p.V138I|TCF7L2_ENST00000369395.1_Missense_Mutation_p.V138I|TCF7L2_ENST00000369397.4_Missense_Mutation_p.V138I|TCF7L2_ENST00000545257.1_Missense_Mutation_p.V161I Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 161 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) ACTGCTTGATGTCCAGGCAGG 0.488000 T VTI1A colorectal 27 26 0 0 0.769981 0 0 GUCA2B 2981 broad.mit.edu 37 1 42619208 42619208 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:42619208C>A ENST00000372581.1 + 1 117 c.87C>A c.(85-87)atC>atA p.I29I NM_007102.2 NP_009033.1 Q16661 GUC2B_HUMAN guanylate cyclase activator 2B (uroguanylin) 29 excretion extracellular region calcium sensitive guanylate cyclase activator activity breast(1)|large_intestine(2) 3 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAGTCTACATCCAGGTGAGTC 0.652000 8 29 0.000157383 0.000169656 0.278610 1 0 VWF 7450 broad.mit.edu 37 12 6091124 6091124 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:6091124G>A ENST00000261405.5 - 42 7369 c.7115C>T c.(7114-7116)cCa>cTa p.P2372L NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2372 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCAGGAGGGTGGGGACACTCT 0.587000 30 94 0 0 0.796494 0 0 RFPL1 5988 broad.mit.edu 37 22 29838094 29838094 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:29838094C>G ENST00000354373.2 + 2 1146 c.937C>G c.(937-939)Cct>Gct p.P313A RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 313 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TCCAGTCCATCCTGGGGAGGC 0.468000 18 72 0 0 0.575678 0 0 CDH6 1004 broad.mit.edu 37 5 31305506 31305506 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:31305506G>T ENST00000265071.2 + 7 1490 c.1225G>T c.(1225-1227)Gat>Tat p.D409Y CDH6_ENST00000514738.1_Missense_Mutation_p.D354Y NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 409 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACAGCCCAAGATCCAGATGC 0.438000 38 27 1.15505e-17 1.74011e-17 0.847076 1 0 SORCS3 22986 broad.mit.edu 37 10 106959772 106959772 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:106959772C>A ENST00000369701.3 + 15 2252 c.2025C>A c.(2023-2025)ttC>ttA p.F675L SORCS3_ENST00000369699.4_5'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 675 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) TTGGCCACTTCAGCCTCCGCT 0.493000 64 51 1.14856e-27 1.99348e-27 0.870114 1 0 TTN 7273 broad.mit.edu 37 2 179582285 179582285 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:179582285C>A ENST00000589042.1 - 87 25540 c.25316G>T c.(25315-25317)gGg>gTg p.G8439V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7195V|TTN_ENST00000591111.1_Missense_Mutation_p.G8122V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8122 Ig-like 67. 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) TGAAGCAGTCCCAAGAGGATT 0.448000 12 22 3.27435e-08 3.88372e-08 0.457914 1 0 PODN 127435 broad.mit.edu 37 1 53547716 53547716 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:53547716G>T ENST00000371500.3 + 12 2153 c.1812G>T c.(1810-1812)caG>caT p.Q604H PODN_ENST00000312553.5_Missense_Mutation_p.Q623H|PODN_ENST00000395871.2_Missense_Mutation_p.Q481H|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 575 Glu-rich. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGCACCTGCAGGTCTTGGACA 0.572000 35 35 1.4659e-37 2.73014e-37 0.870114 1 0 KLHL22 84861 broad.mit.edu 37 22 20796526 20796526 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:20796526T>A ENST00000328879.4 - 7 1895 c.1739A>T c.(1738-1740)gAc>gTc p.D580V KLHL22_ENST00000440659.2_Missense_Mutation_p.D437V NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 580 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GATGGAGTTGTCCAGCTGGGG 0.672000 5 21 0 0 0.217242 0 0 KCNK9 51305 broad.mit.edu 37 8 140630592 140630592 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:140630592C>A ENST00000520439.1 - 2 1097 c.1034G>T c.(1033-1035)aGc>aTc p.S345I KCNK9_ENST00000303015.1_Missense_Mutation_p.S345I Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 345 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) TGGGAAGAGGCTGTTTTTTAA 0.532000 89 61 2.77303e-49 5.38423e-49 0.870114 1 0 BZRAP1 9256 broad.mit.edu 37 17 56386005 56386005 + Missense_Mutation SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:56386005T>C ENST00000355701.3 - 22 5498 c.4628A>G c.(4627-4629)aAt>aGt p.N1543S BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1543S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N1483S NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1543 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGGCCTGAATTGGCCTTCGG 0.677000 12 48 0 0 0.411799 0 0 MEP1A 4224 broad.mit.edu 37 6 46766354 46766354 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:46766354G>T ENST00000230588.4 + 4 166 c.157G>T c.(157-159)Gac>Tac p.D53Y NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 53 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TGCAGGCTTGGACCTCTTTCA 0.393000 39 46 1.23713e-20 1.95845e-20 0.870114 1 0 PVALB 5816 broad.mit.edu 37 22 37211187 37211187 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:37211187C>G ENST00000216200.5 - 3 209 c.154G>C c.(154-156)Gac>Cac p.D52H PVALB_ENST00000404171.1_Missense_Mutation_p.D20H|PVALB_ENST00000417718.2_Missense_Mutation_p.D52H NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 52 EF-hand 1. calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 TTGTCCTTGTCCAGCATGTGA 0.572000 7 44 0 0 0.278610 0 0 NXPE4 54827 broad.mit.edu 37 11 114442077 114442077 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:114442077C>A ENST00000375478.3 - 6 1398 c.1218G>T c.(1216-1218)atG>atT p.M406I NXPE4_ENST00000424261.2_Missense_Mutation_p.M122I NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 CTGAATAGGTCATTGATCCTA 0.423000 89 183 1.76565e-42 3.35851e-42 0.870114 1 0 CHURC1 91612 broad.mit.edu 37 14 65381189 65381189 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:65381189G>T ENST00000607599.1 + 1 111 c.57G>T c.(55-57)agG>agT p.R19S CHURC1_ENST00000549115.1_Missense_Mutation_p.R19S|CHURC1_ENST00000548752.2_Missense_Mutation_p.R19S|CHURC1_ENST00000552002.2_5'UTR|CHURC1_ENST00000359118.2_5'UTR NM_001204063.1|NM_145165.3 NP_001190992.1|NP_660148.3 churchill domain containing 1 breast(1)|pancreas(1) 2 all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976) AGCGTTGGAGGACATTCCCTG 0.622000 33 117 2.87052e-16 4.21138e-16 0.812448 1 0 LRRC7 57554 broad.mit.edu 37 1 70486708 70486708 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:70486708A>T ENST00000310961.5 + 17 1760 c.1342A>T c.(1342-1344)Agc>Tgc p.S448C LRRC7_ENST00000035383.5_Missense_Mutation_p.S443C|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 443 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGACAGTGACAGCTTTAACCC 0.338000 10 41 0 0 0.387290 0 0 MGAM 8972 broad.mit.edu 37 7 141724853 141724853 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:141724853G>A ENST00000475668.2 + 8 940 c.886G>A c.(886-888)Gga>Aga p.G296R MGAM_ENST00000549489.2_Missense_Mutation_p.G296R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 296 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCTGCAGAACGGAACTAATTT 0.403000 10 54 0 0 0.387290 0 0 RTN1 6252 broad.mit.edu 37 14 60213001 60213001 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:60213001C>A ENST00000267484.5 - 2 775 c.440G>T c.(439-441)gGc>gTc p.G147V NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 147 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TAAGGAGGGGCCGGGTGTACC 0.488000 12 38 1.5842e-08 1.89621e-08 0.435327 1 0 CYP2A13 1553 broad.mit.edu 37 19 41597773 41597773 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:41597773C>A ENST00000330436.3 + 5 791 c.791C>A c.(790-792)cCa>cAa p.P264Q NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 264 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CCCAATTCCCCACGGGACTTC 0.587000 12 64 0.000151284 0.000163441 0.435327 1 0 PGAM4 441531 broad.mit.edu 37 X 77225037 77225037 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:77225037C>T ENST00000458128.1 - 1 98 c.99G>A c.(97-99)gcG>gcA p.A33A ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 33 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CCTCGTGGCCCGCCGGGCTCA 0.637000 51 39 0 0 0.870114 0 0 WDR52 55779 broad.mit.edu 37 3 113146176 113146176 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:113146176T>A ENST00000393845.2 - 3 177 c.111A>T c.(109-111)caA>caT p.Q37H WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Missense_Mutation_p.Q37H NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 37 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 TGTTATCTTCTTGAACAGGAG 0.299000 14 16 0 0 0.457914 0 0 RLBP1 6017 broad.mit.edu 37 15 89760550 89760550 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:89760550C>T ENST00000268125.5 - 5 586 c.147G>A c.(145-147)aaG>aaA p.K49K NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 49 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) TCAGCTCATCCTTGGCCTAGA 0.632000 47 44 0 0 0.870114 0 0 FAM83D 81610 broad.mit.edu 37 20 37576528 37576528 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:37576528G>T ENST00000217429.4 + 3 792 c.751G>T c.(751-753)Gtt>Ttt p.V251F NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 221 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GTTAATGACAGTTCGGACTAT 0.413000 56 128 4.67498e-28 8.17913e-28 0.870114 1 0 OR52D1 390066 broad.mit.edu 37 11 5510151 5510151 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:5510151C>T ENST00000322641.5 + 1 237 c.215C>T c.(214-216)aCa>aTa p.T72I HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTCACTCACAGACCTGGCT 0.517000 36 36 0 0 0.804634 0 0 COPZ1 22818 broad.mit.edu 37 12 54737029 54737029 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:54737029G>T ENST00000262061.2 + 4 227 c.190G>T c.(190-192)Ggc>Tgc p.G64C COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000549043.1_Missense_Mutation_p.G72C|COPZ1_ENST00000548753.1_5'UTR|COPZ1_ENST00000548281.1_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000551779.1_Missense_Mutation_p.G64C|COPZ1_ENST00000553231.1_Missense_Mutation_p.G41C|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000455864.2_Missense_Mutation_p.G41C|COPZ1_ENST00000552362.1_Missense_Mutation_p.G64C|COPZ1_ENST00000552218.1_Missense_Mutation_p.G64C NM_001271734.1|NM_001271736.1|NM_016057.1 NP_001258663.1|NP_001258665.1|NP_057141.1 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 64 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 CCTCTTGGAAGGCCTGACAGT 0.448000 159 121 3.93154e-108 7.85907e-108 0.870114 1 0 GPR98 84059 broad.mit.edu 37 5 89949346 89949346 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:89949346C>G ENST00000405460.2 + 20 4051 c.3955C>G c.(3955-3957)Cgg>Ggg p.R1319G NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1319 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACAGCACATGCGGCGTCACCA 0.458000 14 15 0 0 0.520397 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204428 125204428 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:125204428G>T ENST00000431078.1 + 6 1196 c.832G>T c.(832-834)Ggc>Tgc p.G278C NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 278 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGAGCGGGTGGGCAAGCAGGT 0.597000 40 81 6.5261e-18 9.87721e-18 0.840704 1 0 OAS3 4940 broad.mit.edu 37 12 113407441 113407441 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:113407441A>T ENST00000228928.7 + 15 3312 c.3133A>T c.(3133-3135)Aca>Tca p.T1045S RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 1045 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GGCTGACCCGACAGGCAACCT 0.602000 14 6 0 0 0.575678 0 0 BIRC8 112401 broad.mit.edu 37 19 53793091 53793091 + Silent SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:53793091C>A ENST00000426466.1 - 1 1784 c.537G>T c.(535-537)ccG>ccT p.P179P NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 179 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) GACGCCTTAGCGGCTCTTCAG 0.423000 5 19 0.184627 0.185954 0.184627 1 0 DCHS2 54798 broad.mit.edu 37 4 155256229 155256229 + Missense_Mutation SNP C C G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:155256229C>G ENST00000357232.3 - 8 1006 c.1007G>C c.(1006-1008)aGt>aCt p.S336T DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.S835T NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 336 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTCCAAATGACTAAGAGGTAA 0.398000 14 54 0 0 0.520397 0 0 MUC3A 4584 broad.mit.edu 37 7 100549929 100549929 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:100549929C>T ENST00000379458.4 + 2 510 c.510C>T c.(508-510)gtC>gtT p.170_170insV MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGACCACCGTCACCAGTACTT 0.547000 22 32 0 0 0.667858 0 0 RUFY3 22902 broad.mit.edu 37 4 71588305 71588305 + Silent SNP G G T rs139588067 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:71588305G>T ENST00000226328.4 + 1 578 c.15G>T c.(13-15)acG>acT p.T5T RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000381006.3_Silent_p.T5T NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 5 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) CTGCTCTGACGCCTCCGACCG 0.502000 38 116 5.44703e-19 8.38629e-19 0.847076 1 0 SLC22A12 116085 broad.mit.edu 37 11 64368242 64368242 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:64368242G>A ENST00000377574.1 + 9 2177 c.1430G>A c.(1429-1431)cGt>cAt p.R477H SLC22A12_ENST00000473690.1_Missense_Mutation_p.R256H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R443H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R369H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R369H NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 477 R -> H (in RH). cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 ATGGCAGCCCGTGGAGGAGCC 0.657000 30 59 0 0 0.729181 0 0 ZNF808 388558 broad.mit.edu 37 19 53056601 53056601 + Silent SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:53056601C>T ENST00000359798.4 + 5 612 c.432C>T c.(430-432)caC>caT p.H144H NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AACATGATCACAGGCATGCTG 0.388000 30 79 0 0 0.827153 0 0 RIPPLY1 92129 broad.mit.edu 37 X 106144712 106144712 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:106144712G>A ENST00000276173.4 - 3 317 c.288C>T c.(286-288)caC>caT p.H96H CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Intron NM_138382.2 NP_612391.1 Q0D2K3 RIPP1_HUMAN ripply transcriptional repressor 1 96 Ripply homology domain. negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus lung(1)|urinary_tract(1) 2 ACCTGACAGGGTGATGGAACT 0.498000 51 26 0 0 0.870114 0 0 YIPF1 54432 broad.mit.edu 37 1 54344344 54344344 + Nonsense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:54344344G>A ENST00000072644.1 - 5 583 c.247C>T c.(247-249)Caa>Taa p.Q83* YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Nonsense_Mutation_p.Q108*|YIPF1_ENST00000371399.1_5'UTR NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 83 integral to membrane|transport vesicle endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2) 19 AAGAATGTTTGGTAGTATTCA 0.358000 9 57 0 0 0.435327 0 0 OR14C36 127066 broad.mit.edu 37 1 248512087 248512087 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248512087C>T ENST00000317861.1 + 1 11 c.11C>T c.(10-12)tCa>tTa p.S4L NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ATGCCCAATTCAACCACCGTG 0.398000 16 46 0 0 0.575678 0 0 MARCH11 441061 broad.mit.edu 37 5 16067868 16067868 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:16067868T>C ENST00000332432.8 - 4 1120 c.921A>G c.(919-921)agA>agG p.R307R NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 307 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 GCTTAAACACTCTGTAAACTG 0.418000 20 12 0 0 0.667858 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704272 56704272 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:56704272G>A ENST00000586855.2 - 2 463 c.150C>T c.(148-150)ttC>ttT p.F50F ZSCAN5B_ENST00000358992.3_Silent_p.F50F A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 50 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CTGGGCAGCTGAACATCCTGA 0.572000 7 19 0 0 0.307466 0 0 NF1 4763 broad.mit.edu 37 17 29556148 29556148 + Missense_Mutation SNP A A T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:29556148A>T ENST00000358273.4 + 21 2898 c.2515A>T c.(2515-2517)Aac>Tac p.N839Y NF1_ENST00000356175.3_Missense_Mutation_p.N839Y NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 839 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GGAATGGATCAACATGACTGG 0.517000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 7 27 0 0 0.278610 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68688201 68688201 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:68688201G>T ENST00000283916.6 - 10 1209 c.1111C>A c.(1111-1113)Cca>Aca p.P371T TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P254T|RP11-453E17.1_ENST00000500538.2_RNA NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 371 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 TGTACTAGTGGGCCACCAGAG 0.453000 50 50 9.53615e-21 1.51207e-20 0.870114 1 0 EPN1 29924 broad.mit.edu 37 19 56206234 56206234 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:56206234G>T ENST00000411543.2 + 10 2212 c.1665G>T c.(1663-1665)aaG>aaT p.K555N EPN1_ENST00000085079.7_Missense_Mutation_p.K443N|EPN1_ENST00000270460.6_Missense_Mutation_p.K469N NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 469 3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCACCCGGAAGACGCCGGAGT 0.701000 3 15 2.0095e-06 2.28014e-06 0.248553 1 0 SALL3 27164 broad.mit.edu 37 18 76753541 76753541 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr18:76753541C>A ENST00000536229.3 + 1 1860 c.1151C>A c.(1150-1152)cCc>cAc p.P384H SALL3_ENST00000537592.2_Missense_Mutation_p.P517H|SALL3_ENST00000575389.2_Missense_Mutation_p.P517H Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GACAGCAAGCCCGTGCTGCCC 0.716000 14 9 1.3612e-06 1.54901e-06 0.479597 1 0 DPY19L1 23333 broad.mit.edu 37 7 34979784 34979784 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:34979784G>A ENST00000310974.4 - 19 1770 c.1626C>T c.(1624-1626)atC>atT p.I542I NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 542 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 TACTATATTTGATCCATTCTA 0.323000 5 10 0 0 0.184627 0 0 RFPL1S 10740 broad.mit.edu 37 22 29833713 29833713 + RNA SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr22:29833713A>G ENST00000461286.2 - 0 4663 NR_002727.2 AGCTTCCAGCAGAAGAGGTGA 0.522000 18 15 0 0 0.639603 0 0 ANKRD42 338699 broad.mit.edu 37 11 82935923 82935923 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:82935923C>A ENST00000260047.6 + 6 1405 c.610C>A c.(610-612)Ctt>Att p.L204I ANKRD42_ENST00000531895.1_Missense_Mutation_p.L205I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.L205I|ANKRD42_ENST00000393392.2_Missense_Mutation_p.L177I Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 177 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 GGAAGGCCACCTTCACTGTTT 0.328000 29 75 8.4185e-14 1.16788e-13 0.760397 1 0 TTI1 9675 broad.mit.edu 37 20 36634691 36634691 + Missense_Mutation SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:36634691G>A ENST00000373448.2 - 4 2649 c.2411C>T c.(2410-2412)aCc>aTc p.T804I TTI1_ENST00000449821.1_Missense_Mutation_p.T804I|TTI1_ENST00000373447.3_Missense_Mutation_p.T804I NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 804 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TTCAGCTGTGGTGGTGCTCTT 0.448000 71 102 0 0 0.870114 0 0 ZNF287 57336 broad.mit.edu 37 17 16456263 16456263 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:16456263C>A ENST00000395824.1 - 6 1810 c.1193G>T c.(1192-1194)tGt>tTt p.C398F ZNF287_ENST00000395825.3_Missense_Mutation_p.C398F Q9HBT7 ZN287_HUMAN zinc finger protein 287 391 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) ACATTCTTCACATTCATACGA 0.408000 59 70 3.78398e-24 6.32705e-24 0.870114 1 0 TNN 63923 broad.mit.edu 37 1 175087839 175087839 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:175087839G>A ENST00000239462.4 + 11 2642 c.2529G>A c.(2527-2529)gtG>gtA p.V843V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 843 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGGTTCCAGTGGGGAAGGAGC 0.617000 34 74 0 0 0.840704 0 0 ALK 238 broad.mit.edu 37 2 29416646 29416646 + Missense_Mutation SNP C C T rs138827116 by1000genomes TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:29416646C>T ENST00000389048.3 - 29 5213 c.4307G>A c.(4306-4308)cGc>cAc p.R1436H ALK_ENST00000431873.1_Missense_Mutation_p.R266H NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1436 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AGCTGGGCTGCGCTCCTCCTC 0.607000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 30 96 0 0 0.779181 0 0 TCF23 150921 broad.mit.edu 37 2 27373191 27373191 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:27373191G>T ENST00000296096.5 + 2 553 c.423G>T c.(421-423)tgG>tgT p.W141C NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 141 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCTGCCTGGCCGCCCTTCC 0.627000 128 194 3.07355e-68 6.10666e-68 0.870114 1 0 TMEM108 66000 broad.mit.edu 37 3 133099589 133099589 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:133099589C>A ENST00000515826.1 + 3 1157 c.1034C>A c.(1033-1035)cCt>cAt p.P345H TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.P345H|TMEM108_ENST00000393130.3_Missense_Mutation_p.P345H Q6UXF1 TM108_HUMAN transmembrane protein 108 345 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ACCAGCAGACCTCTGTCTACC 0.642000 22 72 3.7963e-18 5.77238e-18 0.654019 1 0 COX7A2L 9167 broad.mit.edu 37 2 42588300 42588300 + Translation_Start_Site SNP A A G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:42588300A>G ENST00000378669.1 - 2 831 c.2T>C c.(1-3)aTg>aCg p.M1T COX7A2L_ENST00000463055.1_Start_Codon_SNP_p.M1T|COX7A2L_ENST00000234301.2_Start_Codon_SNP_p.M1T O14548 COX7R_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 like 1 respiratory electron transport chain mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity lung(4) 4 CTTGTAGTACATGACGCCCAG 0.647000 5 23 0 0 0.184627 0 0 ZNF773 374928 broad.mit.edu 37 19 58018610 58018610 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:58018610G>C ENST00000282292.4 + 4 1287 c.1147G>C c.(1147-1149)Gga>Cga p.G383R ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.G382R|ZNF773_ENST00000593916.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) AGTTCACACTGGAGAAAAACC 0.423000 31 92 0 0 0.812448 0 0 APLP2 334 broad.mit.edu 37 11 129993651 129993651 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:129993651G>C ENST00000263574.5 + 7 1139 c.1067G>C c.(1066-1068)tGt>tCt p.C356S APLP2_ENST00000539648.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000543137.1_Missense_Mutation_p.C263S|APLP2_ENST00000338167.5_Missense_Mutation_p.C356S|APLP2_ENST00000278756.7_Missense_Mutation_p.C366S|APLP2_ENST00000528499.1_Intron NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 356 BPTI/Kunitz inhibitor. G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) GAGGATTATTGTATGGCTGTG 0.562000 16 172 0 0 0.639603 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063031 48063031 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:48063031G>T ENST00000316364.5 + 19 2710 c.2271G>T c.(2269-2271)atG>atT p.M757I SEMA6D_ENST00000536845.2_Missense_Mutation_p.M757I|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.M738I|SEMA6D_ENST00000537942.1_Missense_Mutation_p.M695I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.M695I|SEMA6D_ENST00000354744.4_Missense_Mutation_p.M701I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.M714I|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.M695I|SEMA6D_ENST00000389428.3_Missense_Mutation_p.M682I NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 757 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CTAAATCCATGGTAATGGACC 0.488000 39 35 7.88023e-25 1.33698e-24 0.870114 1 0 SLC39A12 221074 broad.mit.edu 37 10 18331721 18331721 + Missense_Mutation SNP C C A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:18331721C>A ENST00000377369.2 + 13 2308 c.2035C>A c.(2035-2037)Ctc>Atc p.L679I SLC39A12_ENST00000377371.3_Missense_Mutation_p.L678I|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L545I|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L642I NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 679 Poly-Leu. zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTGGCTTTCTCTCCTGCTCTT 0.338000 13 37 5.50884e-06 6.17229e-06 0.411799 1 0 TXLNA 200081 broad.mit.edu 37 1 32650175 32650176 + Frame_Shift_Ins INS - - T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:32650175_32650176insT ENST00000373609.1 + 3 836_837 c.555_556insT c.(553-558)ccaggafs p.G186fs TXLNA_ENST00000373610.3_Frame_Shift_Ins_p.G186fs P40222 TXLNA_HUMAN taxilin alpha 186 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGAGTACCCCAGAGGAGAAGCT 0.554 81 124 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34677945 34677945 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:34677945delC ENST00000488417.1 + 6 1779 c.1659delC c.(1657-1659)aafs p.N553fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.N363fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 363 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) TGTCTGCCAACCCCCGAGACC 0.557 20 74 --- --- --- --- C1orf216 127703 broad.mit.edu 37 1 36181533 36181533 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:36181533delG ENST00000270815.4 - 2 1160 c.390delC c.(388-390)gcfs p.A130fs NM_152374.1 NP_689587.1 Q8TAB5 CA216_HUMAN chromosome 1 open reading frame 216 130 kidney(2)|lung(3)|skin(2)|urinary_tract(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GGGTCCCACAGGCAGGCTCAG 0.637 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 138 --- --- --- --- PTGER3 5733 broad.mit.edu 37 1 71513118 71513118 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:71513118delC ENST00000370924.4 - 1 373 c.143delG c.(142-144)gafs p.G48fs PTGER3_ENST00000356595.4_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000370931.3_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000414819.1_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000460330.1_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000351052.5_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000354608.5_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000306666.5_Frame_Shift_Del_p.G48fs|PTGER3_ENST00000370932.2_Frame_Shift_Del_p.G48fs NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 48 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GGACACCGATCCGCAATCCTC 0.687 14 22 --- --- --- --- SMG5 23381 broad.mit.edu 37 1 156230260 156230260 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:156230260delC ENST00000361813.5 - 15 2409 c.2265delG c.(2263-2265)ctfs p.L756fs SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 756 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) AGGTGCTGAGCAGGGGCCGAT 0.557 43 194 --- --- --- --- IQGAP3 128239 broad.mit.edu 37 1 156524106 156524106 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:156524106delG ENST00000361170.2 - 13 1379 c.1369delC c.(1369-1371)ggfs p.R457fs NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 457 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGGCATCCCGGGCCTCCAGG 0.617 39 56 --- --- --- --- INSRR 3645 broad.mit.edu 37 1 156812206 156812206 + Frame_Shift_Del DEL A A - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:156812206delA ENST00000368195.3 - 18 3617 c.3221delT c.(3220-3222)tgfs p.L1074fs NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1074 Protein kinase. 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) CTCAGGCCGCAAAGATCGAAG 0.597 34 165 --- --- --- --- FCRL5 83416 broad.mit.edu 37 1 157494145 157494146 + Frame_Shift_Ins INS - - T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:157494145_157494146insT ENST00000361835.3 - 10 2319_2320 c.2162_2163insA c.(2161-2163)ctcfs p.L721fs FCRL5_ENST00000356953.4_Frame_Shift_Ins_p.L721fs|FCRL5_ENST00000368191.3_Frame_Shift_Ins_p.L636fs|FCRL5_ENST00000368190.3_Frame_Shift_Ins_p.L721fs NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 721 Ig-like C2-type 7. 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) AGATTCCAGAATGTTCTGTAGT 0.545 26 107 --- --- --- --- PROX1-AS1 100505832 broad.mit.edu 37 1 214090692 214090694 + RNA DEL TCC TCC - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:214090692_214090694delTCC ENST00000433082.2 - 0 195 PROX1-AS1_ENST00000601854.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000600591.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601744.1_RNA ctccttctgttcctcctcctcct 0.488 4 2 --- --- --- --- PROX1 5629 broad.mit.edu 37 1 214184965 214184966 + Frame_Shift_Ins INS - - G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:214184965_214184966insG ENST00000366958.4 + 4 2543_2544 c.1935_1936insG c.(1933-1938)gagggtfs p.EG645fs PROX1_ENST00000261454.4_Frame_Shift_Ins_p.EG645fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.EG645fs|PROX1_ENST00000498508.2_Frame_Shift_Ins_p.EG645fs NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 645 Prospero-like. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CCATCAACGATGGGGTCACCAG 0.446 25 104 --- --- --- --- ITPKB 3707 broad.mit.edu 37 1 226827305 226827305 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:226827305delC ENST00000429204.1 - 6 2833 c.2506delG c.(2506-2508)tcfs p.V836fs ITPKB_ENST00000272117.3_Frame_Shift_Del_p.V836fs NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 836 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCCTCGGTGACCTGCTCCCTC 0.572 32 67 --- --- --- --- SNAP47 116841 broad.mit.edu 37 1 227946760 227946760 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:227946760delC ENST00000366759.4 + 3 1111 c.697delC c.(697-699)cgfs p.P233fs SNAP47_ENST00000315781.5_Frame_Shift_Del_p.P233fs|SNAP47_ENST00000366760.1_5'UTR NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 233 endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 GAAGACACCACCGGAAACAAA 0.453 21 101 --- --- --- --- OR14I1 401994 broad.mit.edu 37 1 248845548 248845548 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr1:248845548delC ENST00000342623.3 - 1 81 c.58delG c.(58-60)agfs p.E20fs NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 ACCTGCAGCTCCCAGATACCA 0.473 13 61 --- --- --- --- LINC01250 101927554 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 4 5 --- --- --- --- ALK 238 broad.mit.edu 37 2 29432714 29432714 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:29432714delG ENST00000389048.3 - 25 4680 c.3774delC c.(3772-3774)acfs p.T1258fs ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 1258 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGCCTGGACAGGTCAAGAGGC 0.522 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 10 76 --- --- --- --- EHD3 30845 broad.mit.edu 37 2 31467293 31467294 + Frame_Shift_Ins INS - - T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:31467293_31467294insT ENST00000322054.5 + 2 666_667 c.381_382insT c.(379-384)gcttggfs p.W128fs EHD3_ENST00000541626.1_Frame_Shift_Ins_p.W128fs NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 128 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) AACTCAACGCCTTTGGCAACGC 0.530 33 48 --- --- --- --- EHD3 30845 broad.mit.edu 37 2 31489134 31489134 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:31489134delC ENST00000322054.5 + 6 1457 c.1172delC c.(1171-1173)gcfs p.A391fs EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 391 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CATGACATTGCCCAGCTCATG 0.622 14 76 --- --- --- --- CYP1B1 1545 broad.mit.edu 37 2 38301813 38301814 + Frame_Shift_Ins INS - - G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:38301813_38301814insG ENST00000260630.3 - 2 1119_1120 c.718_719insC c.(718-720)ggtfs p.G240fs CYP1B1_ENST00000407341.1_Frame_Shift_Ins_p.G240fs|CYP1B1_ENST00000494864.1_Intron NM_000104.3 NP_000095.2 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 240 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) CACGTCCACCAGGCTGCCCGCG 0.634 31 42 --- --- --- --- REG1P 5969 broad.mit.edu 37 2 79363119 79363119 + RNA DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:79363119delG ENST00000444841.1 - 0 1219 TAGCACAGTAGGCAGTATTGG 0.527 12 17 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 3 5 --- --- --- --- SSFA2 6744 broad.mit.edu 37 2 182760755 182760755 + Splice_Site DEL A A - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:182760755delA ENST00000431877.2 + 3 436 c.e3-1 SSFA2_ENST00000409001.1_Splice_Site|SSFA2_ENST00000320370.7_Splice_Site|SSFA2_ENST00000428267.2_Intron NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ATATGGTTTCAGTACACCTTT 0.383 34 173 --- --- --- --- MAP2 4133 broad.mit.edu 37 2 210560409 210560409 + Frame_Shift_Del DEL A A - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:210560409delA ENST00000360351.4 + 7 4021 c.3515delA c.(3514-3516)gafs p.E1172fs MAP2_ENST00000447185.1_Frame_Shift_Del_p.E1168fs|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1172 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTGTCAGTGGAAATACCTTGC 0.443 36 58 --- --- --- --- VIL1 7429 broad.mit.edu 37 2 219294009 219294010 + Splice_Site INS - - CAT TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr2:219294009_219294010insCAT ENST00000248444.5 + 7 657_658 c.567_splice c.e7-1 p.D190_splice VIL1_ENST00000440053.1_Splice_Site_p.D190_splice|VIL1_ENST00000392114.2_Intron NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 190 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCCTGCAGGGCATGACTCTGG 0.624 19 135 --- --- --- --- POMGNT2 84892 broad.mit.edu 37 3 43122561 43122563 + In_Frame_Del DEL GGT GGT - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:43122561_43122563delGGT ENST00000344697.2 - 2 706_708 c.361_363delACC c.(361-363)del p.T121del GTDC2_ENST00000441964.1_In_Frame_Del_p.T121del NM_032806.4 NP_116195.2 GGTCCTCCACGGTGGATAGGTCG 0.611 72 58 --- --- --- --- CCDC54 84692 broad.mit.edu 37 3 107096908 107096908 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr3:107096908delG ENST00000261058.1 + 1 721 c.474delG c.(472-474)ctfs p.L158fs NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 158 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 TAGAGATTCTGGAGGGAGAAA 0.403 52 126 --- --- --- --- DHX15 1665 broad.mit.edu 37 4 24531262 24531263 + Frame_Shift_Ins INS - - T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:24531262_24531263insT ENST00000336812.4 - 13 2387_2388 c.2231_2232insA c.(2230-2232)aaafs p.K744fs DHX15_ENST00000508032.1_5'UTR NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 744 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) GGATGTAATTCTTTGTTGTTAG 0.376 24 133 --- --- --- --- TLR6 10333 broad.mit.edu 37 4 38830942 38830942 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:38830942delC ENST00000436693.2 - 2 272 c.153delG c.(151-153)ccfs p.P51fs TLR6_ENST00000381950.1_Frame_Shift_Del_p.P51fs NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 51 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGGTTTTCAGCGGTAGGTCTT 0.408 9 95 --- --- --- --- ANKRD17 26057 broad.mit.edu 37 4 74007483 74007483 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr4:74007483delG ENST00000358602.4 - 14 2423 c.2307delC c.(2305-2307)gcfs p.A769fs ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.A769fs|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.A656fs NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 769 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAAGAGTGGTGGCAACATTGG 0.433 49 74 --- --- --- --- PCDHGA5 56110 broad.mit.edu 37 5 140745845 140745845 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr5:140745845delG ENST00000518069.1 + 1 1948 c.1948delG c.(1948-1950)gcfs p.G650fs PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAAGACCATGGCCAGCCCCC 0.647 124 72 --- --- --- --- ZNRD1 30834 broad.mit.edu 37 6 30030076 30030076 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:30030076delG ENST00000332435.5 + 3 593 c.322delG c.(322-324)ggfs p.G108fs ZNRD1_ENST00000376785.2_Frame_Shift_Del_p.G108fs|ZNRD1_ENST00000359374.4_Frame_Shift_Del_p.G108fs|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1_ENST00000376782.2_Frame_Shift_Del_p.G108fs NM_170783.2 NP_740753.1 Q9P1U0 RPA12_HUMAN zinc ribbon domain containing 1 108 nucleolus DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding AGCCGATGAAGGGCAAACTGT 0.488 15 117 --- --- --- --- ABCF1 23 broad.mit.edu 37 6 30551459 30551459 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:30551459delC ENST00000326195.8 + 11 1102 c.990delC c.(988-990)cgfs p.R331fs ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Frame_Shift_Del_p.R293fs NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 331 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 TAGCCGGCCGCCGCTACGGGC 0.567 101 118 --- --- --- --- SMARCE1P2 442233 broad.mit.edu 37 6 85140211 85140211 + RNA DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:85140211delC ENST00000454981.1 - 0 289 GATCTTGCCACATGCCAGCAA 0.418 10 10 --- --- --- --- DCBLD1 285761 broad.mit.edu 37 6 117825069 117825069 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:117825069delG ENST00000338728.5 + 2 372 c.252delG c.(250-252)ttfs p.L84fs GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Frame_Shift_Del_p.L84fs|DCBLD1_ENST00000296955.8_Frame_Shift_Del_p.L84fs Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 84 CUB. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TTCTGAGGTTGGGAGATTTGG 0.428 69 63 --- --- --- --- ENPP1 5167 broad.mit.edu 37 6 132194180 132194181 + Frame_Shift_Ins INS - - G TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr6:132194180_132194181insG ENST00000360971.2 + 15 1575_1576 c.1555_1556insG c.(1555-1557)actfs p.T519fs NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 519 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CCCTCAGTGGCAACTTGCATTG 0.416 171 186 --- --- --- --- FIGNL1 63979 broad.mit.edu 37 7 50513283 50513283 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:50513283delG ENST00000419119.1 - 2 3256 c.1703delC c.(1702-1704)cafs p.P568fs FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.P568fs|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.P568fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.P568fs Q6PIW4 FIGL1_HUMAN fidgetin-like 1 568 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 29 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TGAAGCTTCTGGGAGGGGAAT 0.438 16 117 --- --- --- --- CYP3A7 1551 broad.mit.edu 37 7 99305458 99305460 + In_Frame_Del DEL AGG AGG - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:99305458_99305460delAGG ENST00000336374.2 - 12 1393_1395 c.1391_1393delCCT c.(1390-1395)ttc>t p.SF464del NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 464 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CAAGGTTTGAAGGAGAAGTTCTG 0.345 20 178 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142478914 142478915 + RNA INS - - T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:142478914_142478915insT ENST00000603901.1 + 0 40 NR_001296.3 CCCCAACCACCCCCCGTTACTG 0.540 22 17 --- --- --- --- EPHA1 2041 broad.mit.edu 37 7 143095772 143095772 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:143095772delC ENST00000275815.3 - 6 1344 c.1258delG c.(1258-1260)aafs p.E420fs NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 420 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TTTTGGGCTTCCACATTAAAG 0.612 76 118 --- --- --- --- ZNF746 155061 broad.mit.edu 37 7 149191375 149191375 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr7:149191375delC ENST00000461958.2 - 2 440 c.244delG c.(244-246)agfs p.E82fs ZNF746_ENST00000458143.2_Frame_Shift_Del_p.E82fs|ZNF746_ENST00000340622.3_Frame_Shift_Del_p.E82fs Q6NUN9 ZN746_HUMAN zinc finger protein 746 82 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCCACGTTCTCCAGCCGCCTC 0.662 74 242 --- --- --- --- PXDNL 137902 broad.mit.edu 37 8 52359646 52359647 + Frame_Shift_Ins INS - - T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:52359646_52359647insT ENST00000356297.4 - 12 1542_1543 c.1442_1443insA c.(1441-1443)cgafs p.R481fs PXDNL_ENST00000543296.1_Frame_Shift_Ins_p.R481fs NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 481 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGCCTTGATCGTGCTGTGCTGC 0.465 166 230 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113569060 113569060 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr8:113569060delC ENST00000297405.5 - 25 4410 c.4166delG c.(4165-4167)gafs p.G1389fs CSMD3_ENST00000352409.3_Frame_Shift_Del_p.G1389fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.G1349fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.G1285fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1389 Sushi 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAGGCTACTTCCGTGGAGAGT 0.463 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 184 --- --- --- --- GAD2 2572 broad.mit.edu 37 10 26512868 26512870 + In_Frame_Del DEL AGC AGC - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:26512868_26512870delAGC ENST00000376261.3 + 5 1076_1078 c.573_575delAGC c.(571-576)tta>tt p.LA191del GAD2_ENST00000259271.3_In_Frame_Del_p.LA191del|GAD2_ENST00000376248.1_In_Frame_Del_p.LA77del NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 191 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TGGTTGGATTAGCAGCAGACTGG 0.350 26 86 --- --- --- --- CNNM1 26507 broad.mit.edu 37 10 101090072 101090072 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr10:101090072delG ENST00000356713.4 + 1 1217 c.928delG c.(928-930)ggfs p.G311fs CNNM1_ENST00000370528.3_Frame_Shift_Del_p.G240fs|CNNM1_ENST00000446890.1_Frame_Shift_Del_p.G240fs|CNNM1_ENST00000370534.4_5'UTR NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 311 DUF21. ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GCCGGGCTTCGGGGGCACCGG 0.706 5 10 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1254379 1254379 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:1254379delC ENST00000447027.1 + 18 2269 c.2211delC c.(2209-2211)tgfs p.C737fs MUC5B_ENST00000529681.1_Frame_Shift_Del_p.C734fs Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 734 TIL 2. 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) GCTGCACCTGCCCCGCGGGCA 0.697 8 10 --- --- --- --- OR5D16 390144 broad.mit.edu 37 11 55606523 55606524 + Frame_Shift_Ins INS - - T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:55606523_55606524insT ENST00000378396.1 + 1 296_297 c.296_297insT c.(295-297)tttfs p.F99fs NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TTCTCAGGATGTTTGGTGCAAT 0.426 205 292 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63137664 63137664 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:63137664delG ENST00000279178.3 + 1 385 c.136delG c.(136-138)gcfs p.G46fs SLC22A9_ENST00000310969.4_Frame_Shift_Del_p.G46fs NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 46 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 ATTCATACCTGGCCATCGCTG 0.483 70 251 --- --- --- --- FIBP 9158 broad.mit.edu 37 11 65653836 65653836 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:65653836delC ENST00000338369.2 - 4 581 c.469delG c.(469-471)acfs p.D157fs FIBP_ENST00000357519.4_Frame_Shift_Del_p.D157fs|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000533045.1_Frame_Shift_Del_p.D154fs NM_198897.1 NP_942600.1 O43427 FIBP_HUMAN fibroblast growth factor (acidic) intracellular binding protein 157 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 10 READ - Rectum adenocarcinoma(159;0.166) TGAATATTGTCCACCAGGGAG 0.562 68 149 --- --- --- --- OR6M1 390261 broad.mit.edu 37 11 123676749 123676749 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr11:123676749delG ENST00000309154.2 - 1 346 c.309delC c.(307-309)ttfs p.F104fs NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TCCCCAGAAAGAAGTAGAAAT 0.473 15 42 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400510 78400510 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr12:78400510delC ENST00000397909.2 + 8 1365 c.1192delC c.(1192-1194)gcfs p.R398fs NAV3_ENST00000536525.2_Frame_Shift_Del_p.R398fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.R398fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.R398fs Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GACTGCTTTACGCCCCCCGCA 0.502 HNSCC(70;0.22) 89 65 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33226115 33226115 + Frame_Shift_Del DEL G G - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:33226115delG ENST00000315596.10 + 3 469 c.283delG c.(283-285)ctfs p.A95fs NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 95 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TGCTCCTGAAGCTCCTTACAC 0.373 85 87 --- --- --- --- RCBTB2 1102 broad.mit.edu 37 13 49076876 49076876 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:49076876delC ENST00000344532.3 - 11 1524 c.1101delG c.(1099-1101)tgfs p.W367fs RCBTB2_ENST00000544492.1_Frame_Shift_Del_p.W93fs|RCBTB2_ENST00000430805.2_Frame_Shift_Del_p.W372fs NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 367 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) AGAGGAGGCGCCACGTGACGG 0.587 45 55 --- --- --- --- OLFM4 10562 broad.mit.edu 37 13 53624864 53624864 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr13:53624864delC ENST00000219022.2 + 5 1569 c.1491delC c.(1489-1491)tafs p.Y497fs NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 497 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) ACGATGGTTACCTTCTGAATT 0.373 27 55 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24635347 24635347 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:24635347delC ENST00000396864.3 + 9 1411 c.1124delC c.(1123-1125)gcfs p.A375fs RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Frame_Shift_Del_p.C315fs NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 375 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) CAGGCCTTTGCCCGATACTTG 0.577 17 51 --- --- --- --- KIAA0586 9786 broad.mit.edu 37 14 58924516 58924516 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:58924516delC ENST00000423743.3 + 12 1528 c.1270delC c.(1270-1272)cafs p.P424fs KIAA0586_ENST00000261244.5_Frame_Shift_Del_p.P468fs|KIAA0586_ENST00000556134.1_Frame_Shift_Del_p.P453fs|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Frame_Shift_Del_p.P521fs NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 455 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCCAGATCTTCCACAGAATTC 0.318 7 30 --- --- --- --- AREL1 9870 broad.mit.edu 37 14 75142625 75142625 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr14:75142625delC ENST00000356357.4 - 8 1372 c.857delG c.(856-858)ccfs p.R286fs AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 GGACACATTGCGTTCGACGAT 0.413 101 218 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28356956 28356956 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:28356956delC ENST00000261609.7 - 93 14566 c.14458delG c.(14458-14460)acfs p.D4820fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4820 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCAAAGGAGTCGACATCCTCG 0.532 43 57 --- --- --- --- OR4F15 390649 broad.mit.edu 37 15 102358651 102358651 + Frame_Shift_Del DEL A A - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr15:102358651delA ENST00000332238.4 + 1 286 c.262delA c.(262-264)agfs p.K88fs NM_001001674.1 NP_001001674.1 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, member 15 88 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10) 19 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TATTTTCAAGAAGCACAAGGC 0.458 37 50 --- --- --- --- NECAB2 54550 broad.mit.edu 37 16 84034361 84034361 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr16:84034361delC ENST00000565691.1 + 9 1468 c.746delC c.(745-747)acfs p.T249fs NECAB2_ENST00000305202.4_Frame_Shift_Del_p.T332fs Q7Z6G3 NECA2_HUMAN N-terminal EF-hand calcium binding protein 2 332 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 GATGGCTTCACCTTTGTCATC 0.602 30 64 --- --- --- --- HES7 84667 broad.mit.edu 37 17 8025230 8025230 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:8025230delC ENST00000541682.2 - 4 351 c.352delG c.(352-354)ccfs p.A119fs HES7_ENST00000317814.4_Frame_Shift_Del_p.A114fs NM_001165967.1|NM_032580.3 NP_001159439.1|NP_115969.2 Q9BYE0 HES7_HUMAN hes family bHLH transcription factor 7 114 Orange. mesoderm development|transcription, DNA-dependent nucleus DNA binding GCGCGGGCGGCCGGGCTGGCG 0.731 9 14 --- --- --- --- SLFN11 91607 broad.mit.edu 37 17 33680024 33680024 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:33680024delC ENST00000394566.1 - 7 2329 c.2057delG c.(2056-2058)acfs p.S686fs SLFN11_ENST00000308377.4_Frame_Shift_Del_p.S686fs NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 686 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCGAGTGATGCTTTTTGCCTT 0.473 63 350 --- --- --- --- ADAM11 4185 broad.mit.edu 37 17 42847411 42847411 + Frame_Shift_Del DEL A A - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:42847411delA ENST00000200557.6 + 4 545 c.376delA c.(376-378)gcfs p.S126fs ADAM11_ENST00000535346.1_5'UTR NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 126 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) AACCCAGCACAGCACCGTGAG 0.662 27 59 --- --- --- --- AANAT 15 broad.mit.edu 37 17 74464942 74464942 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr17:74464942delC ENST00000250615.3 + 5 1256 c.249delC c.(247-249)cgfs p.R83fs AANAT_ENST00000392492.3_Frame_Shift_Del_p.R38fs NM_001166579.1 NP_001160051.1 Q16613 SNAT_HUMAN aralkylamine N-acetyltransferase 38 N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity lung(1) 1 GTGAGTTTCGCTGCCTCACCC 0.652 51 45 --- --- --- --- CYP4F2 8529 broad.mit.edu 37 19 15990474 15990474 + Frame_Shift_Del DEL A A - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:15990474delA ENST00000221700.5 - 11 1349 c.1254delT c.(1252-1254)atfs p.I419fs CYP4F2_ENST00000592328.1_Frame_Shift_Del_p.I419fs NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 419 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGAGGCAGATAATGCCTGTGG 0.597 68 142 --- --- --- --- ZNF208 7757 broad.mit.edu 37 19 22155556 22155556 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:22155556delC ENST00000397126.4 - 4 2428 c.2280delG c.(2278-2280)tgfs p.W760fs ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGGTTGAGGACCACTTATAGG 0.363 11 34 --- --- --- --- ZNF99 7652 broad.mit.edu 37 19 22939406 22939406 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:22939406delC ENST00000397104.3 - 7 2764 c.2765delG c.(2764-2766)gcfs p.G922fs 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) AAAAGCTTTGCCACATTCTTC 0.363 12 38 --- --- --- --- PEG3 5178 broad.mit.edu 37 19 57328918 57328919 + Frame_Shift_Ins INS - - T rs143368073 TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr19:57328918_57328919insT ENST00000326441.9 - 10 1254_1255 c.891_892insA c.(889-894)aacaacfs p.NN297fs PEG3_ENST00000593695.1_Frame_Shift_Ins_p.NN171fs|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Ins_p.NN297fs|PEG3_ENST00000598410.1_Frame_Shift_Ins_p.NN173fs|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 297 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CGGTGGGTTGATTTTTTGGCTT 0.470 23 89 --- --- --- --- SLC17A9 63910 broad.mit.edu 37 20 61588855 61588855 + Frame_Shift_Del DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chr20:61588855delC ENST00000370349.3 + 4 506 c.302delC c.(301-303)acfs p.T101fs SLC17A9_ENST00000370351.4_Frame_Shift_Del_p.T107fs|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 107 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 ACGGCCGTCACCCCACTGCTC 0.632 31 66 --- --- --- --- MIR508 574513 broad.mit.edu 37 X 146318464 146318464 + RNA DEL C C - TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c8b463c-8851-4b3b-bc57-327ea12d82d8 cad56139-9883-4b4e-9b47-0ddf79030293 g.chrX:146318464delC ENST00000384857.1 - 0 81 NR_030235.1 GTGTATTACTCTACTCCAAAA 0.493 20 11 --- --- --- ---