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 PRUNE2 158471 broad.mit.edu 37 9 79321790 79321790 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:79321790C>T ENST00000428286.1 - 8 5523 c.4323G>A c.(4321-4323)tgG>tgA p.W1441* PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.W1800* Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1800 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GAGATATTTGCCATGCAACAT 0.468000 7 4 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38509602 38509602 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:38509602G>A ENST00000332509.3 - 15 2277 c.2094C>T c.(2092-2094)tcC>tcT p.S698S PLA2G6_ENST00000335539.3_Silent_p.S644S|PLA2G6_ENST00000402064.1_Silent_p.S644S NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 698 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) GCACTTGTGGGGACCTCCCTG 0.582000 33 96 0 0 1 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245829 137245829 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:137245829C>T ENST00000331858.4 + 2 1411 c.1246C>T c.(1246-1248)Cct>Tct p.P416S NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 416 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) GTTACCCAGTCCTTGAGAAGG 0.408000 41 13 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83933264 83933264 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:83933264G>A ENST00000345382.2 - 4 824 c.739C>T c.(739-741)Cag>Tag p.Q247* RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Nonsense_Mutation_p.Q240* NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 247 Hydrophobic. epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TTGAAGAACTGGAAAGGCAGC 0.502000 72 9 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20439127 20439127 + Silent SNP G G A rs12922063 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:20439127G>A ENST00000331849.4 + 7 1086 c.939G>A c.(937-939)ccG>ccA p.P313P NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 313 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 CCAAATTCCCGATAACCACCC 0.473000 96 46 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111082 55111082 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:55111082C>T ENST00000314721.2 + 1 456 c.406C>T c.(406-408)Cga>Tga p.R136* NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CATCATGAATCGACTGGTTTG 0.473000 79 85 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021841 132021841 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:132021841A>T ENST00000356920.5 + 15 2907 c.2813A>T c.(2812-2814)aAg>aTg p.K938M PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 938 Actin-like. ATP binding TCCCTAGAGAAGAGCTACGAG 0.617000 11 291 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37210285 37210285 + Missense_Mutation SNP T T G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:37210285T>G ENST00000585696.1 + 3 1796 c.566T>G c.(565-567)cTt>cGt p.L189R ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.L220R|ZNF567_ENST00000360729.4_Missense_Mutation_p.L189R|ZNF567_ENST00000392163.2_Missense_Mutation_p.L189R|ZNF567_ENST00000588311.1_Missense_Mutation_p.L189R Q8N184 ZN567_HUMAN zinc finger protein 567 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AAATCATTCCTTCAAAGGGGA 0.358000 16 27 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62739765 62739765 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:62739765C>T ENST00000371153.4 - 3 1389 c.1011G>A c.(1009-1011)gtG>gtA p.V337V KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 337 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 TGCCTGGATCCACCCTGGCAA 0.582000 46 80 0 0 1 0 0 APLP2 334 broad.mit.edu 37 11 129993624 129993624 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:129993624G>T ENST00000263574.5 + 7 1112 c.1040G>T c.(1039-1041)aGg>aTg p.R347M APLP2_ENST00000528499.1_Intron|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.R347M|APLP2_ENST00000278756.7_Missense_Mutation_p.R357M|APLP2_ENST00000543137.1_Missense_Mutation_p.R254M|APLP2_ENST00000539648.1_Intron NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 347 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) GGCGGCAACAGGAACAATTTT 0.582000 75 111 5.88917e-42 6.10313e-42 1 1 0 SMARCD3 6604 broad.mit.edu 37 7 150937275 150937275 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:150937275C>T ENST00000392811.2 - 11 1531 c.1057G>A c.(1057-1059)Gag>Aag p.E353K SMARCD3_ENST00000262188.8_Missense_Mutation_p.E366K|SMARCD3_ENST00000356800.2_Missense_Mutation_p.E353K NM_003078.3 NP_003069.2 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 366 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTAATGGCTCCTCCACCTCC 0.597000 36 48 0 0 1 0 0 NSFL1C 55968 broad.mit.edu 37 20 1447388 1447388 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:1447388C>T ENST00000216879.4 - 1 949 c.82G>A c.(82-84)Gag>Aag p.E28K RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E28K|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E28K|NSFL1C_ENST00000353088.2_Missense_Mutation_p.E28K|NSFL1C_ENST00000381658.4_5'UTR NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 28 chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 CCGGCCGACTCGAGAAAGAAG 0.746000 2 1 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995044 140995044 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:140995044G>A ENST00000285879.4 + 4 2140 c.1854G>A c.(1852-1854)ggG>ggA p.G618G MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 618 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCTTCAGGGGGAGGAATTCC 0.567000 HNSCC(15;0.026) 226 95 0 0 1 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48511956 48511956 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:48511956G>A ENST00000339841.2 + 2 210 c.32G>A c.(31-33)tGg>tAg p.W11* ELSPBP1_ENST00000597519.1_Nonsense_Mutation_p.W11* NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 11 single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) CTGTTGGGATGGACAACCTTC 0.483000 9 15 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36702083 36702083 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:36702083G>A ENST00000216181.5 - 17 2282 c.2052C>T c.(2050-2052)gaC>gaT p.D684D NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 684 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CGAGATGCGGGTCCAGCTTGC 0.587000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 39 66 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79078504 79078504 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:79078504G>A ENST00000321300.6 + 10 1350 c.1257G>A c.(1255-1257)gaG>gaA p.E419E BAIAP2_ENST00000392411.3_Silent_p.E341E|BAIAP2_ENST00000575712.1_Silent_p.E419E|BAIAP2_ENST00000321280.7_Silent_p.E419E|BAIAP2_ENST00000575245.1_Silent_p.E452E|BAIAP2_ENST00000435091.3_Silent_p.E419E|BAIAP2_ENST00000416299.2_Silent_p.E282E|BAIAP2_ENST00000428708.2_Silent_p.E419E NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 419 SH3. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GAGAGAGTGAGAAGACCAAGA 0.612000 4 8 0 0 1 0 0 CLK1 1195 broad.mit.edu 37 2 201726168 201726168 + Silent SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:201726168A>T ENST00000434813.2 - 3 643 c.309T>A c.(307-309)tcT>tcA p.S103S CLK1_ENST00000321356.4_Silent_p.S61S|CLK1_ENST00000492793.1_5'UTR NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 61 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TCTCATTTATAGACCTGCTTT 0.363000 31 50 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150445796 150445796 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:150445796C>T ENST00000401000.4 + 10 4359 c.4294C>T c.(4294-4296)Cct>Tct p.P1432S RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P1458S Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1458 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCCATTCTTCCCTCCCAGGTA 0.443000 32 75 0 0 1 0 0 RBBP8NL 140893 broad.mit.edu 37 20 60989555 60989555 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:60989555C>T ENST00000252998.1 - 10 1008 c.852G>A c.(850-852)ccG>ccA p.P284P NM_080833.2 NP_543023.2 RBBP8 N-terminal like GGTCCACCTTCGGGGAGAGCT 0.701000 3 5 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110510754 110510754 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:110510754C>T ENST00000378402.5 + 66 10767 c.10663C>T c.(10663-10665)Cct>Tct p.P3555S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3555 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) TAATGATGATCCTAATATTGA 0.348000 HNSCC(38;0.096) 23 60 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784475 140784475 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140784475C>T ENST00000573521.1 + 1 1956 c.1956C>T c.(1954-1956)ccC>ccT p.P652P PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGCCAGCCCCCTCTCTCGG 0.607000 33 80 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78011251 78011251 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:78011251C>T ENST00000435339.2 + 2 1290 c.885C>T c.(883-885)atC>atT p.I295I LPAR4_ENST00000373301.2_Silent_p.I295I NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 295 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 TGTACCCAATCACCTTGTGCC 0.423000 60 17 0 0 1 0 0 ABHD17C 58489 broad.mit.edu 37 15 81042009 81042009 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:81042009C>T ENST00000258884.4 + 2 873 c.746C>T c.(745-747)aCa>aTa p.T249I ABHD17C_ENST00000560609.1_Missense_Mutation_p.T14I|ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000558464.1_Intron NM_021214.1 NP_067037.1 abhydrolase domain containing 17C ACCAGGAAAACATACTGCTTT 0.473000 24 26 0 0 1 0 0 RRAGA 10670 broad.mit.edu 37 9 19049678 19049678 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:19049678G>A ENST00000380527.1 + 1 307 c.21G>A c.(19-21)aaG>aaA p.K7K NM_006570.4 NP_006561.1 Q7L523 RRAGA_HUMAN Ras-related GTP binding A 7 apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction Golgi apparatus|lysosome|nucleus GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(1) 3 CAGCCATGAAGAAAAAGGTGC 0.667000 15 4 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54212204 54212204 + Missense_Mutation SNP G G A rs75755871 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:54212204G>A ENST00000259782.4 + 6 884 c.788G>A c.(787-789)cGa>cAa p.R263Q NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 263 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TCTAAGGGTCGATACACGGCC 0.423000 41 39 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131768868 131768868 + Missense_Mutation SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:131768868A>G ENST00000372577.2 + 44 5182 c.5161A>G c.(5161-5163)Aag>Gag p.K1721E NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1721 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GCCGCAGGGCAAGTCCACCTC 0.612000 OREG0019528 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 99 0 0 1 0 0 CAP1 10487 broad.mit.edu 37 1 40535481 40535481 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:40535481T>C ENST00000372797.3 + 9 1489 c.928T>C c.(928-930)Tcc>Ccc p.S310P CAP1_ENST00000340450.3_Missense_Mutation_p.S309P|CAP1_ENST00000372798.1_Missense_Mutation_p.S309P|CAP1_ENST00000372792.2_Missense_Mutation_p.S310P|CAP1_ENST00000372802.1_Missense_Mutation_p.S309P|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372805.3_Missense_Mutation_p.S310P NM_001105530.1|NM_006367.3 NP_001099000.1|NP_006358.1 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 310 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AACCAGCCCATCCCCCAAACG 0.522000 8 42 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186429591 186429591 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:186429591G>A ENST00000284770.5 - 5 597 c.524C>T c.(523-525)cCt>cTt p.P175L PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Intron NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 175 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) CATTTCCAAAGGAATGTTAGG 0.463000 23 60 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159898129 159898129 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:159898129G>A ENST00000368094.1 - 19 3246 c.3049C>T c.(3049-3051)Cct>Tct p.P1017S IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1001S NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 1017 cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGCCTCGAGGGGCAGCAGGG 0.701000 12 7 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62675715 62675715 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:62675715G>A ENST00000498273.1 + 4 1564 c.1269G>A c.(1267-1269)ggG>ggA p.G423G NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 423 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 aggcttcagggttggaggagg 0.542000 21 42 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171013 207171013 + Silent SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:207171013T>A ENST00000374423.3 + 5 2147 c.1761T>A c.(1759-1761)gtT>gtA p.V587V NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 587 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATTGTGATGTTTCTCTTGAGT 0.413000 19 25 0 0 1 0 0 NDUFB7 4713 broad.mit.edu 37 19 14676960 14676960 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:14676960G>A ENST00000215565.2 - 3 460 c.399C>T c.(397-399)ccC>ccT p.P133P NM_004146.5 NP_004137.2 P17568 NDUB7_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa 133 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 NADH(DB00157) GGGCCACCTTGGGGTCCACTT 0.637000 6 7 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66931363 66931363 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:66931363G>A ENST00000374690.3 + 4 2529 c.2005G>A c.(2005-2007)Gaa>Aaa p.E669K AR_ENST00000396044.3_Missense_Mutation_p.E669K|AR_ENST00000396043.2_Missense_Mutation_p.E137K NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 668 Interaction with MYST2. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TGAAGGCTATGAATGTCAGCC 0.527000 Androgen Insensitivity Syndrome 16 2 0 0 1 0 0 LMCD1 29995 broad.mit.edu 37 3 8590328 8590328 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:8590328C>T ENST00000157600.3 + 4 694 c.462C>T c.(460-462)cgC>cgT p.R154R LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Silent_p.R154R|LMCD1_ENST00000397386.3_Silent_p.R42R|LMCD1_ENST00000454244.1_Silent_p.R81R NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 154 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) TTTACCGCCGCCGCCAGCTCA 0.562000 53 125 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138657652 138657652 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:138657652C>T ENST00000394800.2 + 14 2217 c.1668C>T c.(1666-1668)gcC>gcT p.A556A MATR3_ENST00000361059.2_Silent_p.A556A|MATR3_ENST00000510056.1_Silent_p.A556A|MATR3_ENST00000509990.1_Silent_p.A556A|MATR3_ENST00000502499.1_Silent_p.A218A|MATR3_ENST00000394805.3_Silent_p.A556A|MATR3_ENST00000502929.1_Silent_p.A556A|MATR3_ENST00000504203.1_Silent_p.A218A|MATR3_ENST00000503811.1_Silent_p.A268A P43243 MATR3_HUMAN matrin 3 556 RRM 2. nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGAAAAAAGCCCTTTGGTTTC 0.368000 66 64 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26534898 26534898 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:26534898G>A ENST00000376261.3 + 8 1392 c.889G>A c.(889-891)Gac>Aac p.D297N GAD2_ENST00000259271.3_Missense_Mutation_p.D297N NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 297 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) GATTGGAACAGACAGCGTGAT 0.398000 27 9 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158632529 158632529 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:158632529G>A ENST00000368148.3 - 17 2607 c.2427C>T c.(2425-2427)atC>atT p.I809I SPTA1_ENST00000368147.3_Silent_p.I809I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 809 I -> V (in dbSNP:rs7547313). 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) CAGTCTCTTGGATCCAGGCCT 0.502000 35 48 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22804758 22804758 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:22804758G>A ENST00000361524.3 - 4 3272 c.3124C>T c.(3124-3126)Cac>Tac p.H1042Y ZNF521_ENST00000584787.1_Missense_Mutation_p.H822Y|ZNF521_ENST00000538137.2_Missense_Mutation_p.H1042Y NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1042 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTTTGCATGTGGAACGTCCCA 0.527000 T PAX5 ALL 37 15 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882025 228882025 + Missense_Mutation SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:228882025G>C ENST00000392056.3 - 7 3591 c.3545C>G c.(3544-3546)tCt>tGt p.S1182C SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1182C NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1182 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) GGACTGCTTAGAGGGACAGCT 0.542000 50 73 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15212338 15212338 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:15212338C>T ENST00000379554.3 + 6 858 c.812C>T c.(811-813)cCc>cTc p.P271L INSC_ENST00000530161.1_Missense_Mutation_p.P224L|INSC_ENST00000528567.1_Missense_Mutation_p.P224L|INSC_ENST00000424273.1_Missense_Mutation_p.P224L|INSC_ENST00000379556.3_Missense_Mutation_p.P224L|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.P224L NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 271 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GAGGGGGCTCCCTTGTGCCGC 0.517000 72 121 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711938 140711938 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140711938C>T ENST00000517417.1 + 1 1687 c.1687C>T c.(1687-1689)Ctg>Ttg p.L563L PCDHGA1_ENST00000378105.3_Silent_p.L563L NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCGAGATCCTGTACCCCGC 0.652000 119 215 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28827596 28827596 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:28827596C>T ENST00000422425.2 + 40 2942 c.2898C>T c.(2896-2898)ttC>ttT p.F966F PLB1_ENST00000327757.5_Silent_p.F977F|PLB1_ENST00000541605.1_Intron NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 977 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGCAGCCCTTCTTCCAGAACA 0.572000 23 42 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185958690 185958690 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:185958690C>T ENST00000271588.4 + 21 3348 c.3119C>T c.(3118-3120)tCa>tTa p.S1040L HMCN1_ENST00000367492.2_Missense_Mutation_p.S1040L|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1040 Ig-like C2-type 7. response to stimulus|visual perception basement membrane calcium ion binding p.S1040L(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TATGTGGTATCACCTGGAGGA 0.502000 40 69 0 0 1 0 0 SMURF2P1 0 broad.mit.edu 37 17 28935539 28935539 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:28935539C>T ENST00000578265.1 + 0 192 CCGTTGTGTTCGTCTTTTTCC 0.368000 14 24 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377627 44377627 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:44377627C>T ENST00000587539.1 - 3 738 c.739G>A c.(739-741)Gaa>Aaa p.E247K ZNF404_ENST00000324394.6_Missense_Mutation_p.E245K NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TCCCCACATTCCTTACATTCA 0.383000 40 58 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258814 56258814 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:56258814G>A ENST00000327216.2 - 1 57 c.33C>T c.(31-33)ttC>ttT p.F11F NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) CCAGGAGAATGAACTCAGTCA 0.433000 48 74 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47685758 47685758 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:47685758G>A ENST00000371883.3 - 4 1212 c.636C>T c.(634-636)ctC>ctT p.L212L TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.L210L|TAL1_ENST00000294339.3_Silent_p.L210L P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 210 Helix-loop-helix motif. basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 TCAGCTTGCGGAGCTCGGCAA 0.572000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 39 55 0 0 1 0 0 ALG1 56052 broad.mit.edu 37 16 5127990 5127990 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:5127990G>A ENST00000588623.1 + 7 1479 c.379G>A c.(379-381)Ggc>Agc p.G127S ALG1_ENST00000262374.5_Missense_Mutation_p.G238S|ALG1_ENST00000544428.1_Missense_Mutation_p.G127S Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 238 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) CATGAAGCTGGGCAGCATGCA 0.587000 38 17 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 93170179 93170179 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:93170179C>T ENST00000370331.1 - 3 413 c.404G>A c.(403-405)tGg>tAg p.W135* EVI5_ENST00000540033.1_Nonsense_Mutation_p.W135*|EVI5_ENST00000543509.1_Nonsense_Mutation_p.W135* NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 135 Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5. 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) CCAAAGAATCCAAGAATCTTC 0.378000 37 79 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103572848 103572848 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:103572848G>A ENST00000285402.3 + 2 645 c.489G>A c.(487-489)tcG>tcA p.S163S ODF1_ENST00000518835.1_Intron NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 163 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) GCCTTGGATCGAAAAAGTACA 0.493000 35 50 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45630083 45630083 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:45630083C>T ENST00000327619.5 + 3 500 c.126C>T c.(124-126)gcC>gcT p.A42A EYA2_ENST00000357410.3_Silent_p.A42A|EYA2_ENST00000317304.6_Silent_p.A42A NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 42 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CCAAATCGGCCCCCCTGAGAG 0.483000 32 53 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71495070 71495070 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:71495070C>T ENST00000296755.7 + 5 6186 c.5888C>T c.(5887-5889)aCc>aTc p.T1963I NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1963 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AGTGAAAAGACCACCAGCCCC 0.473000 81 77 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72745659 72745659 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:72745659G>A ENST00000252037.4 + 5 537 c.e5-1 FKBP6_ENST00000431982.2_Splice_Site|FKBP6_ENST00000413573.2_Splice_Site NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) CTGGTCCTCAGGAGCAGCAAG 0.493000 35 47 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29556483 29556483 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:29556483G>A ENST00000358273.4 + 21 3233 c.2850_splice c.e21+1 p.Q950_splice NF1_ENST00000356175.3_Splice_Site_p.Q950_splice NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 950 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) CCCAAGGACAGGTAAAGTGTT 0.343000 """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) 30 68 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700965 136700965 + Silent SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:136700965T>C ENST00000445907.2 + 3 1881 c.1353T>C c.(1351-1353)ttT>ttC p.F451F AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Silent_p.F451F|CHRM2_ENST00000402486.3_Silent_p.F451F|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Silent_p.F451F|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Silent_p.F451F|CHRM2_ENST00000453373.1_Silent_p.F451F NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 451 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AGAAGACCTTTAAACACCTTC 0.413000 61 73 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48371849 48371849 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:48371849G>A ENST00000380518.3 - 44 3219 c.3055C>T c.(3055-3057)Cct>Tct p.P1019S COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P950S NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1019 Triple-helical region. Missing (in hypochondrogenesis). 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) ACGGGGCCAGGAGGACCTCTG 0.647000 20 22 0 0 1 0 0 GCLC 2729 broad.mit.edu 37 6 53380952 53380952 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:53380952G>A ENST00000229416.6 - 4 998 c.515C>T c.(514-516)tCc>tTc p.S172F GCLC_ENST00000514004.1_Missense_Mutation_p.S172F NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 172 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) AAAGAAGAGGGACTTGGAAGC 0.478000 22 71 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113753770 113753770 + Splice_Site SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:113753770A>G ENST00000295878.3 - 6 965 c.e6+1 KIAA1407_ENST00000545063.1_Splice_Site NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 ACACTGGCTTACATTTTCCAT 0.428000 54 120 0 0 1 0 0 CIB2 10518 broad.mit.edu 37 15 78403582 78403582 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:78403582G>A ENST00000258930.3 - 3 451 c.123C>T c.(121-123)ctC>ctT p.L41L CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 41 calcium ion binding p.L41L(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 CCATTGGGACGAGGTTGGGGG 0.607000 79 17 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7335133 7335133 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:7335133G>A ENST00000318881.6 + 3 1242 c.1005G>A c.(1003-1005)agG>agA p.R335R SYT9_ENST00000396716.2_Silent_p.R303R NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 335 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) ATTTCCCCAGGGAGTGCATCC 0.468000 73 80 0 0 1 0 0 MEMO1 51072 broad.mit.edu 37 2 32093518 32093518 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:32093518G>A ENST00000295065.4 - 9 1115 c.806C>T c.(805-807)tCg>tTg p.S269L MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.S246L|MEMO1_ENST00000404530.1_Missense_Mutation_p.S269L|MEMO1_ENST00000379383.3_Missense_Mutation_p.S272L NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 269 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) ATTCAAAAACGAAAAACTCAT 0.423000 3 12 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334145 37334145 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:37334145C>T ENST00000262825.5 + 14 2530 c.2313C>T c.(2311-2313)ggC>ggT p.G771G CSF2RB_ENST00000406230.1_Silent_p.G771G|CSF2RB_ENST00000536485.1_Silent_p.G712G|CSF2RB_ENST00000403662.3_Silent_p.G765G NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 765 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GGTTTGAGGGCTATGTGGAGC 0.642000 30 35 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43376022 43376022 + Silent SNP G G A rs60442765 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:43376022G>A ENST00000244296.2 - 3 743 c.606C>T c.(604-606)ctC>ctT p.L202L PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Silent_p.L202L|PSG1_ENST00000595356.1_Silent_p.L202L|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000436291.2_Silent_p.L202L NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) CCAATAGAAAGAGGGTCCTGT 0.527000 209 373 0 0 1 0 0 FAM183B 340286 broad.mit.edu 37 7 38725306 38725306 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:38725306G>A ENST00000409072.3 - 2 1234 c.300C>T c.(298-300)gtC>gtT p.V100V family with sequence similarity 183, member B endometrium(1)|lung(7) 8 GTTCTGGGTCGACCAAGGCTT 0.522000 111 176 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96425206 96425206 + Silent SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:96425206G>T ENST00000359246.4 + 13 2083 c.1716G>T c.(1714-1716)ctG>ctT p.L572L PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 572 Lys-rich. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) AGAGTGTCCTGAGTGTGCCCA 0.502000 58 21 9.53978e-28 9.84168e-28 1 1 0 TSC22D4 81628 broad.mit.edu 37 7 100074963 100074963 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:100074963G>A ENST00000300181.2 - 2 1453 c.699C>T c.(697-699)tcC>tcT p.S233S TSC22D4_ENST00000393991.1_5'UTR|TSC22D4_ENST00000496728.1_5'UTR NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 233 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTTTCCTCCGGGACAGTGGAG 0.672000 38 43 0 0 1 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801406 140801406 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140801406G>A ENST00000398587.2 + 1 645 c.612G>A c.(610-612)gaG>gaA p.E204E PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.E204E|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACCGAGAGAAAGAGGCTG 0.547000 25 35 0 0 1 0 0 CCDC64B 146439 broad.mit.edu 37 16 3080524 3080524 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:3080524C>T ENST00000573514.1 - 3 2257 c.67G>A c.(67-69)Ggt>Agt p.G23S CCDC64B_ENST00000389347.4_Missense_Mutation_p.G230S|CCDC64B_ENST00000572449.1_Missense_Mutation_p.G230S A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 230 breast(1)|endometrium(2)|large_intestine(1) 4 CTGCCCTCACCCTTCTCCACC 0.672000 13 5 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224885 42224885 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:42224885C>T ENST00000221992.6 + 8 1929 c.1815C>T c.(1813-1815)taC>taT p.Y605Y CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.Y605Y|CEACAM5_ENST00000398599.4_Silent_p.Y604Y NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 605 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) ACTCGTCTTACCTTTCGGGAG 0.552000 107 134 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113301615 113301615 + Missense_Mutation SNP C C T rs138442191 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:113301615C>T ENST00000297405.5 - 57 9371 c.9127G>A c.(9127-9129)Gga>Aga p.G3043R CSMD3_ENST00000455883.2_Missense_Mutation_p.G2874R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3003R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2973R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3043 Sushi 21. 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 GGTTGTGATCCACTCCAATGG 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 45 81 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92139273 92139273 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:92139273T>C ENST00000256343.3 - 13 1222 c.1066A>G c.(1066-1068)Act>Gct p.T356A NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 356 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GTTAGCACAGTTGGAAAAATT 0.363000 53 99 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89521624 89521624 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:89521624C>T ENST00000336596.2 + 16 2926 c.2701C>T c.(2701-2703)Ctt>Ttt p.L901F EPHA3_ENST00000494014.1_Missense_Mutation_p.L901F NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 901 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GCCATCAAACCTTCTTCTGGA 0.468000 TSP Lung(6;0.00050) 59 172 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20067021 20067021 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:20067021C>T ENST00000400230.2 - 3 132 c.88G>A c.(88-90)Gga>Aga p.G30R TPTE2_ENST00000390680.2_Missense_Mutation_p.G30R|TPTE2_ENST00000255310.6_Missense_Mutation_p.G30R|TPTE2_ENST00000400103.2_Missense_Mutation_p.G30R|TPTE2_ENST00000382975.4_Missense_Mutation_p.G30R|TPTE2_ENST00000382977.4_Missense_Mutation_p.G30R|TPTE2_ENST00000457266.2_Missense_Mutation_p.G30R|TPTE2_ENST00000382978.1_Missense_Mutation_p.G30R Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 30 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AGGGCTGCTCCTTTAAATTCA 0.373000 21 194 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99894074 99894074 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:99894074C>T ENST00000327681.6 - 14 2106 c.1574G>A c.(1573-1575)gGa>gAa p.G525E USP45_ENST00000539675.1_Intron|USP45_ENST00000392738.2_Missense_Mutation_p.G205E|USP45_ENST00000369233.2_Missense_Mutation_p.G477E|USP45_ENST00000500704.2_Missense_Mutation_p.G525E NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 525 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) CACACCGGATCCACTACTGGA 0.493000 37 46 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230577 140230577 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140230577G>A ENST00000378122.3 + 1 3221 c.2497G>A c.(2497-2499)Gaa>Aaa p.E833K PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTTTTCTAGAAATCCAGCA 0.289000 78 202 0 0 1 0 0 MDP1 145553 broad.mit.edu 37 14 24684863 24684863 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:24684863C>T ENST00000288087.7 - 3 215 c.104G>A c.(103-105)gGa>gAa p.G35E NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.G35E|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.G52E NM_001199822.1|NM_138476.3 NP_001186751.1|NP_612485.2 magnesium-dependent phosphatase 1 breast(2)|large_intestine(2)|lung(3) 7 TCGTACAGTTCCATCACTGGA 0.617000 OREG0022620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 119 128 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92600267 92600267 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:92600267G>A ENST00000298047.6 + 21 12036 c.12019G>A c.(12019-12021)Gag>Aag p.E4007K FAT3_ENST00000533797.1_Missense_Mutation_p.E342K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4007K|FAT3_ENST00000525166.1_Missense_Mutation_p.E3857K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4007 Laminin G-like. 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) CAGCTTCGCGGAGGTGGTGGG 0.667000 TCGA Ovarian(4;0.039) 4 6 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154555396 154555396 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:154555396C>T ENST00000409959.3 + 33 4430 c.4381C>T c.(4381-4383)Cca>Tca p.P1461S KIAA0922_ENST00000440693.1_Missense_Mutation_p.P1377S|KIAA0922_ENST00000409663.3_Missense_Mutation_p.P1460S NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 1460 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CGCATACTGTCCATTGGAATT 0.423000 30 94 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96425208 96425208 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:96425208G>A ENST00000359246.4 + 13 2085 c.1718G>A c.(1717-1719)aGt>aAt p.S573N PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 573 Lys-rich. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) AGTGTCCTGAGTGTGCCCAAC 0.507000 56 21 0 0 1 0 0 SMARCD3 6604 broad.mit.edu 37 7 150937276 150937276 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:150937276C>T ENST00000392811.2 - 11 1530 c.1056G>A c.(1054-1056)gaG>gaA p.E352E SMARCD3_ENST00000262188.8_Silent_p.E365E|SMARCD3_ENST00000356800.2_Silent_p.E352E NM_003078.3 NP_003069.2 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 365 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTAATGGCTCCTCCACCTCCA 0.592000 36 52 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51915022 51915022 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:51915022G>A ENST00000371117.3 - 22 2487 c.2212C>T c.(2212-2214)Cct>Tct p.P738S PKHD1_ENST00000340994.4_Missense_Mutation_p.P738S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 738 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TAGACCGGAGGGGATCCCACC 0.557000 OREG0017493 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 60 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73047455 73047455 + RNA SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:73047455C>A ENST00000604411.1 + 0 35416 XIST_ENST00000429829.1_lincRNA NR_003255.2 TTAAAACGAACGAGAAGGGGA 0.398000 8 5 1 1 1 1 0 RAB3A 5864 broad.mit.edu 37 19 18313452 18313452 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:18313452C>T ENST00000222256.4 - 2 277 c.99G>A c.(97-99)gtG>gtA p.V33V RAB3A_ENST00000464076.2_Intron NM_002866.4 NP_002857.1 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 33 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 ACGTCTTGCCCACGCTGCTGT 0.552000 OREG0025360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 165 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71163195 71163195 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:71163195C>T ENST00000234396.4 + 1 184 c.111C>T c.(109-111)ccC>ccT p.P37P ATP6V1B1_ENST00000412314.1_Silent_p.P37P NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 37 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 TCACCCACCCCCGTGTCAGTG 0.652000 28 34 0 0 1 0 0 CYB5R4 51167 broad.mit.edu 37 6 84646087 84646087 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:84646087T>C ENST00000369681.4 + 12 1240 c.1100T>C c.(1099-1101)cTt>cCt p.L367P CYB5R4_ENST00000479164.1_3'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 367 FAD-binding FR-type. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) CTTGATCGTCTTCAGATTGGT 0.363000 25 30 0 0 1 0 0 CAP2 10486 broad.mit.edu 37 6 17539639 17539639 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:17539639C>T ENST00000229922.2 + 8 1308 c.776C>T c.(775-777)tCa>tTa p.S259L CAP2_ENST00000378990.2_Missense_Mutation_p.S233L|CAP2_ENST00000465994.1_Missense_Mutation_p.S195L|CAP2_ENST00000489374.1_Missense_Mutation_p.S147L|CAP2_ENST00000493172.1_Intron NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 259 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) TCTTCTCCTTCACGCTCAGCT 0.527000 53 78 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584437 82584437 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:82584437C>T ENST00000423517.2 - 5 6169 c.5832G>A c.(5830-5832)gaG>gaA p.E1944E PCLO_ENST00000333891.8_Silent_p.E1944E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1875 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 CATACAAAGGCTCTTTTTCAA 0.373000 21 51 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63064904 63064904 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:63064904C>T ENST00000544661.1 + 4 599 c.171C>T c.(169-171)atC>atT p.I57I SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Silent_p.I2I|SLC22A10_ENST00000332793.6_Silent_p.I212I|SLC22A10_ENST00000525620.1_3'UTR Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 212 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTTCCATGATCATTATATCAA 0.398000 43 75 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47856522 47856522 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:47856522G>A ENST00000328771.4 + 2 584 c.235G>A c.(235-237)Gag>Aag p.E79K NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 79 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CTCCAGGAAGGAGGAGAAAGA 0.532000 70 86 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179458819 179458819 + Missense_Mutation SNP T T G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179458819T>G ENST00000589042.1 - 297 58525 c.58301A>C c.(58300-58302)cAt>cCt p.H19434P TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H17793P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H10561P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H10494P|TTN_ENST00000342992.6_Missense_Mutation_p.H16866P|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H10369P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17793 Fibronectin type-III 41. 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) AGTCTTTATATGAGTGCGATC 0.468000 35 65 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118377097 118377097 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:118377097G>A ENST00000534358.1 + 27 10513 c.10490G>A c.(10489-10491)gGa>gAa p.G3497E KMT2A_ENST00000354520.4_Missense_Mutation_p.G3456E|KMT2A_ENST00000389506.5_Missense_Mutation_p.G3494E NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AATAGCATGGGACTGGAGCAG 0.542000 65 34 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57254704 57254704 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:57254704G>A ENST00000343433.6 - 3 941 c.861C>T c.(859-861)atC>atT p.I287I C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 287 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GGAGGTTCACGATGGGAGGTC 0.572000 48 93 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 1998971 1998971 + Missense_Mutation SNP G G A rs148337899 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:1998971G>A ENST00000262113.4 + 2 232 c.91G>A c.(91-93)Gaa>Aaa p.E31K MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 31 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCTGCTGGACGAATATGCGTC 0.493000 20 29 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53201466 53201466 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:53201466G>A ENST00000293774.4 - 7 1800 c.1530C>T c.(1528-1530)atC>atT p.I510I KRT4_ENST00000458244.2_Silent_p.I416I|KRT4_ENST00000551956.1_Silent_p.I436I B4DRS2 B4DRS2_HUMAN keratin 4 436 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GGTAGGTGGCGATCTCGATGT 0.597000 60 106 0 0 1 0 0 SLC39A1 27173 broad.mit.edu 37 1 153932814 153932814 + Silent SNP G G A rs3183512 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:153932814G>A ENST00000368623.3 - 3 1494 c.735C>T c.(733-735)ctC>ctT p.L245L SLC39A1_ENST00000537590.1_Silent_p.L143L|SLC39A1_ENST00000356205.4_Silent_p.L245L|SLC39A1_ENST00000310483.6_Silent_p.L245L|SLC39A1_ENST00000368621.1_Silent_p.L245L Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), member 1 245 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) TGCATGAGAAGAGGATCCCAC 0.627000 18 37 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40399994 40399994 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:40399994C>T ENST00000338305.6 - 2 1401 c.859G>A c.(859-861)Gag>Aag p.E287K NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 287 LRRCT. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) AGAGGCGGCTCGCACACAAAC 0.627000 40 43 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47410320 47410320 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:47410320G>A ENST00000361866.3 + 13 1100 c.986G>A c.(985-987)gGg>gAg p.G329E NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 329 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GGCATCGACGGGGTGGACGGC 0.652000 10 32 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7561561 7561561 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:7561561C>T ENST00000399429.3 - 5 874 c.734G>A c.(733-735)gGa>gAa p.G245E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 245 Collagen-like 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) ACCTGGATCTCCCTTCTCACA 0.383000 26 25 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692762 135692762 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:135692762C>T ENST00000513104.1 - 2 596 c.314G>A c.(313-315)cGg>cAg p.R105Q TRPC7_ENST00000355180.3_Missense_Mutation_p.R105Q|TRPC7_ENST00000426057.2_Missense_Mutation_p.R105Q NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 105 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCCCCCACCCGTGCCAGGTT 0.652000 63 62 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57005373 57005373 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:57005373G>T ENST00000179765.5 - 8 1763 c.1564C>A c.(1564-1566)Ctt>Att p.L522I BAZ2A_ENST00000551812.1_Missense_Mutation_p.L554I|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L552I|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L524I Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 554 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TGGAGGGGAAGACGAACTTCT 0.413000 17 26 2.4624e-09 2.50409e-09 1 1 0 TLR1 7096 broad.mit.edu 37 4 38800438 38800438 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:38800438G>A ENST00000308979.2 - 4 288 c.15C>T c.(13-15)ttC>ttT p.F5F TLR1_ENST00000502213.2_Silent_p.F5F NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 5 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TGGCAAAATGGAAGATGCTAG 0.323000 12 16 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34209070 34209070 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:34209070C>T ENST00000373381.4 - 14 2160 c.1984G>A c.(1984-1986)Gac>Aac p.D662N NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 622 CUB 4. 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) ACGTCAATGTCGTTGAAGGCC 0.602000 55 24 0 0 1 0 0 RCOR2 283248 broad.mit.edu 37 11 63679791 63679791 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:63679791C>T ENST00000301459.4 - 11 1630 c.1243G>A c.(1243-1245)Gag>Aag p.E415K NM_173587.3 NP_775858.2 Q8IZ40 RCOR2_HUMAN REST corepressor 2 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 TCATCTTCCTCTAGGGCTGGG 0.652000 34 58 0 0 1 0 0 VKORC1 79001 broad.mit.edu 37 16 31105790 31105790 + Silent SNP G G A rs141158294 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:31105790G>A ENST00000394971.3 - 1 80 c.33C>T c.(31-33)ccC>ccT p.P11P VKORC1_ENST00000498155.1_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000354895.4_Intron Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 0 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) TCCGTTCCCCGGGCACACCGA 0.637000 18 6 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7416820 7416820 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:7416820C>T ENST00000322644.6 + 29 5636 c.5237C>T c.(5236-5238)cCg>cTg p.P1746L NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1746 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) cccaccagcccGAACTATTCT 0.537000 199 253 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40247829 40247829 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:40247829G>T ENST00000263791.5 + 6 646 c.603G>T c.(601-603)ttG>ttT p.L201F EIF2AK4_ENST00000559624.1_Missense_Mutation_p.L201F|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.L201F NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 201 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) AGGAACGTTTGGAAATTGCTA 0.373000 23 7 3.62473e-10 3.6894e-10 1 1 0 ACTG1P17 283693 broad.mit.edu 37 15 83395389 83395389 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:83395389G>A ENST00000560958.1 - 0 897 NR_036446.1 CCATGCCCAGGAAGGAGGGCT 0.542000 14 3 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132939595 132939595 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:132939595C>T ENST00000265342.7 - 2 329 c.80G>A c.(79-81)gGa>gAa p.G27E NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 27 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTGCTGGTTCCTGGGTCCAT 0.537000 69 66 0 0 1 0 0 SLC2A4RG 56731 broad.mit.edu 37 20 62373917 62373917 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:62373917C>T ENST00000266077.2 + 6 961 c.909C>T c.(907-909)gtC>gtT p.V303V SLC2A4RG_ENST00000493772.1_3'UTR NM_020062.3 NP_064446.2 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 303 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) cgcccccTGTCCTGAGCACCG 0.726000 6 8 0 0 1 0 0 ANXA7 310 broad.mit.edu 37 10 75135928 75135928 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:75135928C>T ENST00000372921.4 - 13 1382 c.1326G>A c.(1324-1326)aaG>aaA p.K442K ANXA7_ENST00000535178.1_Silent_p.K312K NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 464 calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) TGCCCAGAGTCTTCTGATACA 0.378000 13 12 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20576416 20576416 + Silent SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:20576416A>T ENST00000399722.2 + 13 2370 c.2019A>T c.(2017-2019)atA>atT p.I673I RBBP8_ENST00000399725.2_Silent_p.I673I|RBBP8_ENST00000360790.5_Silent_p.I673I|RBBP8_ENST00000327155.5_Silent_p.I673I NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 673 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) TTACTGTAATAGATACAAAGG 0.358000 Homologous recombination 15 6 0 0 1 0 0 MIEF1 54471 broad.mit.edu 37 22 39907930 39907930 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:39907930C>T ENST00000325301.2 + 4 645 c.221C>T c.(220-222)cCc>cTc p.P74L SMCR7L_ENST00000402881.1_Missense_Mutation_p.P74L|SMCR7L_ENST00000404569.1_Missense_Mutation_p.P74L NM_019008.4 NP_061881.2 Q9NQG6 SMC7L_HUMAN 74 integral to membrane|mitochondrion central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1) 16 Melanoma(58;0.04) TGGGAAGAACCCAACTGGATG 0.602000 83 96 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296333 20296333 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:20296333C>T ENST00000315947.1 + 1 726 c.726C>T c.(724-726)acC>acT p.T242T OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CGTGCATCACCCATATCATTG 0.493000 53 54 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413693 178413693 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:178413693G>A ENST00000231188.5 - 8 1740 c.1562C>T c.(1561-1563)cCc>cTc p.P521L RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P521L NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 521 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|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) all cancers(165;0.245) CGGCCCGCAGGGCAGGCTGCA 0.677000 46 42 0 0 1 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42396404 42396404 + Silent SNP T T G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:42396404T>G ENST00000599846.1 + 6 452 c.327T>G c.(325-327)gtT>gtG p.V109V ARHGEF1_ENST00000354532.3_Silent_p.V109V|ARHGEF1_ENST00000378152.4_Silent_p.V91V|ARHGEF1_ENST00000347545.4_Silent_p.V76V|ARHGEF1_ENST00000337665.4_Silent_p.V124V|ARHGEF1_ENST00000596957.1_3'UTR Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 109 RGSL. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TTGAGCAGGTTCTCCGGGTGC 0.612000 73 138 0 0 1 0 0 C20orf197 284756 broad.mit.edu 37 20 58645095 58645095 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:58645095G>A ENST00000313426.1 + 3 372 c.66G>A c.(64-66)ctG>ctA p.L22L NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 22 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) GCCACAGGCTGAAGGTGAGTC 0.547000 23 32 0 0 1 0 0 CABP7 164633 broad.mit.edu 37 22 30125176 30125176 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:30125176G>A ENST00000216144.3 + 4 840 c.499G>A c.(499-501)Gag>Aag p.E167K NM_182527.2 NP_872333.1 Q86V35 CABP7_HUMAN calcium binding protein 7 167 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) CACAGCCGAGGAGTGTCCCGT 0.632000 7 8 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20024225 20024225 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:20024225C>T ENST00000400230.2 - 13 1008 c.964G>A c.(964-966)Gga>Aga p.G322R TPTE2_ENST00000390680.2_Missense_Mutation_p.G245R|TPTE2_ENST00000255310.6_Missense_Mutation_p.G245R|TPTE2_ENST00000400103.2_Missense_Mutation_p.G211R|TPTE2_ENST00000382975.4_Missense_Mutation_p.G282R|TPTE2_ENST00000382977.4_Missense_Mutation_p.G322R|TPTE2_ENST00000457266.2_Missense_Mutation_p.G211R|TPTE2_ENST00000382978.1_Missense_Mutation_p.G282R Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 322 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CCTTTGCCTCCTTTACAGTGA 0.328000 44 38 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53994417 53994417 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:53994417C>T ENST00000396328.1 - 12 1722 c.1483G>A c.(1483-1485)Gat>Aat p.D495N WDR72_ENST00000559418.1_Missense_Mutation_p.D505N|WDR72_ENST00000360509.5_Missense_Mutation_p.D495N|WDR72_ENST00000557913.1_Missense_Mutation_p.D492N NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 495 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GTAAAGATATCCCACAAGATC 0.393000 41 25 0 0 1 0 0 PRUNE 58497 broad.mit.edu 37 1 151006421 151006421 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:151006421C>T ENST00000271620.3 + 8 1229 c.1073C>T c.(1072-1074)gCc>gTc p.A358V PRUNE_ENST00000271619.8_Missense_Mutation_p.A146V|PRUNE_ENST00000368937.1_Missense_Mutation_p.A123V|PRUNE_ENST00000368934.1_Missense_Mutation_p.A123V|PRUNE_ENST00000368936.1_Missense_Mutation_p.A176V|PRUNE_ENST00000368935.1_Missense_Mutation_p.A73V NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 358 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTCCAGGAAGCCCTGTCAGCA 0.532000 75 123 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33704223 33704223 + Silent SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:33704223G>T ENST00000336934.5 - 5 707 c.591C>A c.(589-591)tcC>tcA p.S197S STARD13_ENST00000255486.4_Silent_p.S189S|STARD13_ENST00000399365.3_Silent_p.S79S NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 197 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CGCTGTGAATGGAGCAGACCT 0.622000 12 40 9.31168e-06 9.39401e-06 1 1 0 CTBP2 1488 broad.mit.edu 37 10 126715535 126715535 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:126715535G>A ENST00000309035.6 - 1 924 c.794C>T c.(793-795)cCa>cTa p.P265L CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 418 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CATCTTGGATGGGATGCTTTC 0.637000 61 28 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154744670 154744670 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:154744670G>A ENST00000271915.3 - 3 1544 c.1229C>T c.(1228-1230)cCc>cTc p.P410L KCNN3_ENST00000358505.2_Missense_Mutation_p.P97L|KCNN3_ENST00000361147.4_Missense_Mutation_p.P105L NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 415 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) CAGGAACATGGGGATAGACAG 0.612000 32 40 0 0 1 0 0 CYB561A3 220002 broad.mit.edu 37 11 61121425 61121425 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:61121425G>A ENST00000426130.2 - 5 1054 c.275C>T c.(274-276)cCc>cTc p.P92L CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000294072.4_Missense_Mutation_p.P75L|CYB561A3_ENST00000536915.1_Missense_Mutation_p.P75L|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.P75L|CYB561A3_ENST00000540317.1_5'UTR NM_001161454.1 NP_001154926.1 cytochrome b561 family, member A3 GGGCAGTTTGGGCCCCACCCA 0.612000 35 41 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038840 75038840 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:75038840C>T ENST00000326665.5 - 14 2772 c.2554G>A c.(2554-2556)Ggt>Agt p.G852S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 852 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCCCCTTCACCCAGCCTTCTG 0.532000 72 107 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57828169 57828169 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:57828169G>A ENST00000371030.2 + 4 4164 c.4164G>A c.(4162-4164)agG>agA p.R1388R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1388 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) GAATTGTCAGGGAAATGGACA 0.463000 43 93 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196311244 196311244 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:196311244C>T ENST00000367433.5 - 15 1619 c.1518G>A c.(1516-1518)aaG>aaA p.K506K KCNT2_ENST00000294725.8_Silent_p.K506K|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Silent_p.K117K|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 506 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ATGTAAAACTCTTTCCTTCAT 0.363000 20 49 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511679 169511679 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:169511679C>T ENST00000367796.3 - 13 2865 c.2664G>A c.(2662-2664)atG>atA p.M888I F5_ENST00000367797.3_Missense_Mutation_p.M883I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 883 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.M883I(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTAGTAATTTCATCCAGGAGA 0.473000 79 152 0 0 1 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58007140 58007140 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:58007140C>T ENST00000286494.4 + 3 866 c.406C>T c.(406-408)Cag>Tag p.Q136* AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Nonsense_Mutation_p.Q175*|AC025165.8_ENST00000356672.3_RNA NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 136 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 AGATAAGACGCAGGTGTGAGG 0.577000 32 52 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112187078 112187078 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:112187078C>T ENST00000455480.2 + 19 3016 c.2839C>T c.(2839-2841)Ccc>Tcc p.P947S ACAD10_ENST00000313698.4_Missense_Mutation_p.P916S NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 916 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CAGACTGGGCCCCGGCAGGAT 0.632000 63 21 0 0 1 0 0 GPR108 56927 broad.mit.edu 37 19 6731932 6731932 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:6731932G>A ENST00000264080.7 - 14 1296 c.1270C>T c.(1270-1272)Ctc>Ttc p.L424F GPR108_ENST00000430424.4_Missense_Mutation_p.L182F|GPR108_ENST00000598626.1_5'UTR NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 424 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 GCATCCTGGAGATGCCGGATG 0.672000 13 18 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28151401 28151401 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:28151401G>A ENST00000305242.5 - 18 2853 c.2761C>T c.(2761-2763)Cat>Tat p.H921Y ARMC4_ENST00000537576.1_Missense_Mutation_p.H613Y|ARMC4_ENST00000545014.1_Missense_Mutation_p.H446Y NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 921 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACAACTCCATGATCTGTGATA 0.348000 28 60 0 0 1 0 0 FBXO3 26273 broad.mit.edu 37 11 33795991 33795991 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:33795991G>A ENST00000530401.1 - 1 73 c.53C>T c.(52-54)aCc>aTc p.T18I FBXO3_ENST00000534136.1_Missense_Mutation_p.T18I|FBXO3_ENST00000265651.3_Missense_Mutation_p.T18I|FBXO3_ENST00000448981.2_Missense_Mutation_p.T18I Q9UK99 FBX3_HUMAN F-box protein 3 18 F-box. proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) CAGGGGATCGGTGGGCAGCGA 0.657000 4 14 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50724620 50724620 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:50724620C>T ENST00000404971.1 - 15 4189 c.2850G>A c.(2848-2850)aaG>aaA p.K950K NRXN1_ENST00000402717.3_Silent_p.K902K|NRXN1_ENST00000406316.2_Silent_p.K910K|NRXN1_ENST00000405472.3_Silent_p.K902K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.K910K|NRXN1_ENST00000401669.2_Silent_p.K910K NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 910 Laminin G-like 5. 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) TCGATTTGGTCTTGAAGGTGA 0.408000 14 26 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46656474 46656474 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:46656474G>A ENST00000253255.5 - 1 2745 c.2746C>T c.(2746-2748)Cct>Tct p.P916S NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 916 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity p.P916S(1) NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TTTAACCAAGGAAAGAGGTCA 0.413000 75 124 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21977350 21977350 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:21977350C>T ENST00000381418.4 - 14 4380 c.2900G>A c.(2899-2901)gGa>gAa p.G967E HR_ENST00000312841.8_Missense_Mutation_p.G967E NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 967 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GTTGAGTTTTCCATGGAGGGC 0.647000 53 22 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141335515 141335515 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:141335515G>A ENST00000231484.3 - 1 3112 c.1902C>T c.(1900-1902)ccC>ccT p.P634P NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 634 Cadherin 6. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGTAGAGGGGCTCTCCAT 0.567000 34 69 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36767919 36767919 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:36767919G>A ENST00000361475.2 - 9 1410 c.1237C>T c.(1237-1239)Cac>Tac p.H413Y TGM2_ENST00000536701.1_Missense_Mutation_p.H332Y|TGM2_ENST00000536724.1_Missense_Mutation_p.H353Y NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 413 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) ATGGATTTGTGCACAGACCCA 0.567000 24 62 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50530545 50530545 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:50530545G>A ENST00000262794.5 + 2 296 c.213G>A c.(211-213)ctG>ctA p.L71L MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.L71L|MOV10L1_ENST00000545383.1_Silent_p.L71L|MOV10L1_ENST00000540615.1_Silent_p.L51L|MOV10L1_ENST00000475190.1_3'UTR NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 71 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GAGTGCTTCTGAATGTTGGAC 0.428000 51 71 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127222361 127222361 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:127222361C>T ENST00000321407.2 - 2 2459 c.2035G>A c.(2035-2037)Gtc>Atc p.V679I NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 679 Golgi membrane|plasma membrane protein binding p.V679I(1) breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGCACCTCGACCTCCAGCCTG 0.587000 38 60 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106460745 106460745 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:106460745G>A ENST00000261402.2 - 7 3200 c.1821C>T c.(1819-1821)ttC>ttT p.F607F NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 607 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity 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 GGATCTGGAGGAAGTTTTCTG 0.612000 37 13 0 0 1 0 0 SCN2B 6327 broad.mit.edu 37 11 118047137 118047137 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:118047137C>T ENST00000278947.5 - 1 251 c.10G>A c.(10-12)Gat>Aat p.D4N NM_004588.4 NP_004579.1 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta subunit 4 synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) AGCCAGGCATCTCTGTGCATT 0.532000 49 31 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1099444 1099444 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:1099444C>T ENST00000441003.2 + 39 7312 c.7285C>T c.(7285-7287)Ctg>Ttg p.L2429L NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4791 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CAACACAGTCCTGGTGGAAGG 0.622000 4 9 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26423294 26423294 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:26423294C>T ENST00000466808.2 + 0 213 CTCAGTTCTCCCCTGCAGTGT 0.537000 43 59 0 0 1 0 0 RPL10L 140801 broad.mit.edu 37 14 47120740 47120740 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:47120740G>A ENST00000298283.3 - 1 288 c.200C>T c.(199-201)gCc>gTc p.A67V NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 67 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 AATACGGGCGGCCTCCAGGGC 0.512000 32 53 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857030 9857030 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:9857030C>A ENST00000396573.2 - 14 4680 c.4371G>T c.(4369-4371)atG>atT p.M1457I GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M1457I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M1457I|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1457 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGATACTAGGCATTTTCTTGT 0.368000 18 11 1.99824e-07 2.02306e-07 1 1 0 RASD2 23551 broad.mit.edu 37 22 35947705 35947705 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:35947705G>A ENST00000216127.4 + 3 1069 c.427G>A c.(427-429)Gac>Aac p.D143N NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 143 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CAACAAGAACGACCACGGCGA 0.622000 21 51 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98383006 98383006 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:98383006C>T ENST00000186436.5 - 34 4736 c.4508G>A c.(4507-4509)aGc>aAc p.S1503N NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1503 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 AGGAATCTTGCTTGGGAGATT 0.383000 50 84 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17052416 17052416 + Silent SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:17052416A>G ENST00000418129.2 + 2 1665 c.1200A>G c.(1198-1200)aaA>aaG p.K400K PLCL2_ENST00000432376.1_Silent_p.K400K|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Silent_p.K400K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 526 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GTTCCATTAAACAACAGAAGG 0.368000 16 27 0 0 1 0 0 MLH3 27030 broad.mit.edu 37 14 75514072 75514072 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:75514072T>C ENST00000355774.2 - 2 2502 c.2287A>G c.(2287-2289)Aag>Gag p.K763E MLH3_ENST00000556257.1_Missense_Mutation_p.K763E|MLH3_ENST00000556740.1_Missense_Mutation_p.K763E|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.K763E NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 763 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTTTCAACCTTCCCATATTGC 0.393000 Mismatch excision repair (MMR) 53 109 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276027 186276027 + Silent SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:186276027T>C ENST00000445192.2 + 7 1221 c.1176T>C c.(1174-1176)acT>acC p.T392T PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367485.4_Silent_p.T299T|PRG4_ENST00000367484.3_Silent_p.T351T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 392 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 CACCCACCACTCCCAAGGAGC 0.637000 8 151 0 0 1 0 0 OLFML1 283298 broad.mit.edu 37 11 7507224 7507224 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:7507224C>G ENST00000329293.3 + 1 512 c.118C>G c.(118-120)Cga>Gga p.R40G CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Missense_Mutation_p.R40G|OLFML1_ENST00000530135.1_Missense_Mutation_p.R40G NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 40 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CCAGCGCTTTCGAGTCTTGGA 0.502000 22 40 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101493406 101493406 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:101493406C>T ENST00000392979.3 + 21 2313 c.1952C>T c.(1951-1953)cCt>cTt p.P651L ANO4_ENST00000299222.9_Missense_Mutation_p.P206L|ANO4_ENST00000392977.3_Missense_Mutation_p.P686L|ANO4_ENST00000550015.1_Missense_Mutation_p.P206L NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 686 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GAACATGGACCTGAAAGGAAA 0.363000 HNSCC(74;0.22) 31 10 0 0 1 0 0 FAM222A 84915 broad.mit.edu 37 12 110206464 110206464 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:110206464T>C ENST00000538780.1 + 3 1446 c.730T>C c.(730-732)Tac>Cac p.Y244H FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.Y244H NM_032829.2 NP_116218.2 Q5U5X8 CL034_HUMAN family with sequence similarity 222, member A 244 Pro-rich. CAGCATGGCCTACTCGGCTGC 0.716000 5 5 0 0 1 0 0 CCDC68 80323 broad.mit.edu 37 18 52605227 52605227 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:52605227G>A ENST00000591504.1 - 5 580 c.306C>T c.(304-306)ctC>ctT p.L102L CCDC68_ENST00000432185.1_Silent_p.L102L|CCDC68_ENST00000337363.4_Silent_p.L102L NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 102 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TCATTTCTAAGAGCTGTAGGT 0.353000 17 11 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58725426 58725426 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:58725426G>A ENST00000305921.3 + 4 1232 c.1000G>A c.(1000-1002)Gag>Aag p.E334K NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 334 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GGACCAAGAGGAGAAAAAATA 0.378000 25 56 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5496342 5496342 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:5496342G>A ENST00000355029.4 + 9 1025 c.883G>A c.(883-885)Gag>Aag p.E295K NET1_ENST00000380359.3_Missense_Mutation_p.E241K|NET1_ENST00000542715.1_Missense_Mutation_p.E114K NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 295 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 GCGATGTCTCGAGTCTCCCTT 0.433000 29 47 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131371229 131371229 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:131371229C>T ENST00000372739.3 + 35 4678 c.4568C>T c.(4567-4569)tCt>tTt p.S1523F SPTAN1_ENST00000372731.4_Missense_Mutation_p.S1523F|SPTAN1_ENST00000358161.5_Missense_Mutation_p.S1523F NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1523 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGAGACATTTCTAGCCGGCGC 0.562000 136 195 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043400 74043400 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:74043400C>T ENST00000409561.1 + 3 2171 c.2050C>T c.(2050-2052)Ccg>Tcg p.P684S NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 684 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GGGTAAAGGCCCGGAGAAAAT 0.517000 33 59 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27442117 27442117 + Splice_Site SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:27442117C>T ENST00000527372.1 - 14 2499 c.2318_splice c.e14-1 p.R773_splice MYO18A_ENST00000354329.4_Splice_Site_p.R773_splice|MYO18A_ENST00000533112.1_Splice_Site_p.R773_splice|MYO18A_ENST00000531253.1_Splice_Site_p.R773_splice NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 773 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) ACTTGAGAGCCCTGGATAGGG 0.657000 11 14 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90070088 90070088 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:90070088C>T ENST00000405460.2 + 60 12467 c.12371C>T c.(12370-12372)tCa>tTa p.S4124L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4124 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) CAGCTGATATCAATTGATGAG 0.363000 26 41 0 0 1 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924251 45924251 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:45924251C>T ENST00000395629.2 + 5 1233 c.903C>T c.(901-903)tcC>tcT p.S301S MAPK8IP1_ENST00000241014.2_Silent_p.S311S Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 311 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) CAGTCAGCTCCGATCCAGACC 0.677000 13 20 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306714 41306714 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:41306714G>A ENST00000373198.3 - 7 1180 c.945C>T c.(943-945)atC>atT p.I315I PTPRT_ENST00000373201.1_Silent_p.I315I|PTPRT_ENST00000373193.3_Silent_p.I315I|PTPRT_ENST00000356100.2_Silent_p.I315I|PTPRT_ENST00000373187.1_Silent_p.I315I|PTPRT_ENST00000373190.1_Silent_p.I315I|PTPRT_ENST00000373184.1_Silent_p.I315I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 315 Fibronectin type-III 1. 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) GGCCATCCCCGATGATGGAGT 0.572000 29 41 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501938 140501938 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140501938T>A ENST00000194152.1 + 1 358 c.358T>A c.(358-360)Tta>Ata p.L120I NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 120 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAAGGAGAATTATTGATCCA 0.433000 66 66 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157475611 157475611 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:157475611G>A ENST00000389413.3 - 12 1823 c.1720C>T c.(1720-1722)Ctg>Ttg p.L574L PTPRN2_ENST00000389416.4_Silent_p.L586L|PTPRN2_ENST00000389418.4_Silent_p.L603L|PTPRN2_ENST00000404321.2_Silent_p.L626L|PTPRN2_ENST00000409483.1_Silent_p.L565L NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 603 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGAGGAGGCAGGAACTTGAGT 0.547000 16 29 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147624 6147624 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:6147624G>A ENST00000588304.1 + 3 531 c.85G>A c.(85-87)Gaa>Aaa p.E29K ACSBG2_ENST00000591403.1_Missense_Mutation_p.E79K|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E79K|ACSBG2_ENST00000586696.1_Missense_Mutation_p.E79K Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 79 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 CAAAAAGTGGGAAATTCTGAA 0.433000 94 158 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448660 91448660 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:91448660C>T ENST00000360468.3 + 2 330 c.312C>T c.(310-312)ccC>ccT p.P104P MAN2A2_ENST00000559717.1_Silent_p.P104P NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 104 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 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) CACCGGAGCCCCGGCCCAGCT 0.657000 46 40 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38149908 38149908 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:38149908C>T ENST00000308059.6 + 21 3052 c.3031C>T c.(3031-3033)Caa>Taa p.Q1011* DLEC1_ENST00000452631.2_Nonsense_Mutation_p.Q1011*|DLEC1_ENST00000346219.3_Nonsense_Mutation_p.Q1011* Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1011 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) CCTCGGACACCAAGCAGAATT 0.557000 10 23 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133257804 133257804 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:133257804C>T ENST00000320574.5 - 2 167 c.124G>A c.(124-126)Gat>Aat p.D42N POLE_ENST00000535270.1_Missense_Mutation_p.D42N NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 42 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCCATCTTATCCGTCCACTGA 0.517000 DNA polymerases (catalytic subunits) 56 30 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900818 123900818 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:123900818C>T ENST00000431524.1 + 1 522 c.489C>T c.(487-489)ttC>ttT p.F163F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 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) TATTGACTTTCCATTTGCCCT 0.552000 79 145 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25265187 25265187 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:25265187C>T ENST00000218548.6 + 8 1218 c.885C>T c.(883-885)gcC>gcT p.A295A ATP12A_ENST00000381946.3_Silent_p.A289A NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 289 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CCTCATTGGCCTCAGGAGTTG 0.512000 134 73 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30349830 30349830 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:30349830G>A ENST00000359358.4 - 2 1163 c.725C>T c.(724-726)tCc>tTc p.S242F AC012123.1_ENST00000426194.1_Missense_Mutation_p.D20N|KLHL14_ENST00000358095.4_Missense_Mutation_p.S242F NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 242 BACK. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 CCACAGCACGGACATCTGGAA 0.677000 30 8 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105150504 105150504 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:105150504G>A ENST00000428173.2 + 11 1246 c.943G>A c.(943-945)Gat>Aat p.D315N NRK_ENST00000243300.9_Missense_Mutation_p.D315N Q7Z2Y5 NRK_HUMAN Nik related kinase 315 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 ATTTGTTCGGGATATAAAAAA 0.338000 HNSCC(51;0.14) 5 5 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73076547 73076547 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:73076547C>T ENST00000263674.3 + 19 6013 c.5663C>T c.(5662-5664)cCa>cTa p.P1888L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1888 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CTCTACCATCCAGACACCTTT 0.577000 19 44 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203044805 203044805 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:203044805C>T ENST00000367240.2 + 28 3958 c.3431C>T c.(3430-3432)aCc>aTc p.T1144I PPFIA4_ENST00000599966.1_Missense_Mutation_p.T650I|PPFIA4_ENST00000295706.4_Missense_Mutation_p.T650I|PPFIA4_ENST00000414050.2_Missense_Mutation_p.T872I|PPFIA4_ENST00000447715.2_Missense_Mutation_p.T1143I|PPFIA4_ENST00000272198.6_Missense_Mutation_p.T659I O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 659 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 TCCGCGGAGACCCTCCCGGCG 0.706000 8 7 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131140257 131140257 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:131140257T>A ENST00000357668.1 - 15 1324 c.1297A>T c.(1297-1299)Agc>Tgc p.S433C ASAP1_ENST00000518721.1_Missense_Mutation_p.S433C Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 433 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 TCTTCCAGGCTGTTCTCTCCC 0.478000 23 43 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54799659 54799659 + Nonsense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:54799659C>A ENST00000293379.4 - 10 1219 c.958G>T c.(958-960)Gaa>Taa p.E320* RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 320 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CTTACCTGTTCCCCTGAGAAG 0.542000 51 91 9.59835e-30 9.91105e-30 1 1 0 LIPI 149998 broad.mit.edu 37 21 15537711 15537711 + Splice_Site SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:15537711C>T ENST00000344577.2 - 6 822 c.796_splice c.e6-1 p.G266_splice LIPI_ENST00000536861.1_Splice_Site_p.G245_splice NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 245 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) GAATTGAATTCCTTAAGGGTT 0.303000 17 26 0 0 1 0 0 THUMPD3 25917 broad.mit.edu 37 3 9424968 9424968 + Missense_Mutation SNP G G A rs77084156 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:9424968G>A ENST00000345094.3 + 8 1544 c.1210G>A c.(1210-1212)Gta>Ata p.V404I THUMPD3_ENST00000515662.2_Missense_Mutation_p.V404I|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.V404I NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 404 methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) GGATATTATTGTAACAGATTT 0.413000 28 23 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105436533 105436533 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:105436533C>T ENST00000351513.2 - 7 1309 c.1177G>A c.(1177-1179)Gga>Aga p.G393R NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 393 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCTATTCTTCCTTTTCTTGGA 0.378000 46 83 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958332 49958332 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:49958332C>T ENST00000376056.2 - 5 1155 c.1005G>A c.(1003-1005)atG>atA p.M335I AKAP4_ENST00000376064.3_Missense_Mutation_p.M335I|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.M344I Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 344 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GAGAGACCATCATGTCAGATG 0.483000 24 8 0 0 1 0 0 SPRY1 10252 broad.mit.edu 37 4 124323681 124323681 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:124323681C>T ENST00000394339.2 + 2 1275 c.935C>T c.(934-936)tCc>tTc p.S312F SPRY1_ENST00000339241.1_Missense_Mutation_p.S312F NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 312 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 AGCTGCCCCTCCCGGGGTCAG 0.468000 54 68 0 0 1 0 0 SOX13 9580 broad.mit.edu 37 1 204086823 204086823 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:204086823C>T ENST00000367204.1 + 7 872 c.763C>T c.(763-765)Ccc>Tcc p.P255S SOX13_ENST00000367203.4_3'UTR NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 255 Pro-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) TCAGCCCATTCCCTGCAAACC 0.577000 11 18 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212755 62212755 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:62212755C>T ENST00000519846.1 + 3 841 c.369C>T c.(367-369)atC>atT p.I123I RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Silent_p.I123I|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 123 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.I123M(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GGGCTCTGATCGATGGGTTCC 0.488000 29 45 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234863801 234863801 + Silent SNP G G A rs151229928 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:234863801G>A ENST00000324695.4 + 11 1309 c.1269G>A c.(1267-1269)aaG>aaA p.K423K AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Silent_p.K111K NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 423 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) AGCAAGACAAGGATAACTGGA 0.498000 37 8 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780616 37780616 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:37780616G>A ENST00000447769.1 + 4 910 c.621G>A c.(619-621)atG>atA p.M207I GPR141_ENST00000334425.1_Missense_Mutation_p.M207I|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 207 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 TTATGTTGATGGTGCAGAAGC 0.408000 68 87 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70515509 70515509 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:70515509G>A ENST00000381269.2 - 7 3135 c.2382C>T c.(2380-2382)ttC>ttT p.F794F SLC8A3_ENST00000533541.1_Silent_p.F151F|SLC8A3_ENST00000528359.1_Silent_p.F792F|SLC8A3_ENST00000394330.2_Silent_p.F151F|SLC8A3_ENST00000357887.3_Silent_p.F792F|SLC8A3_ENST00000356921.2_Silent_p.F788F|SLC8A3_ENST00000216568.7_Silent_p.F165F|SLC8A3_ENST00000534137.1_Silent_p.F791F NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 794 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) CAAATGCCACGAAAACAACAG 0.507000 7 21 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67682087 67682087 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:67682087G>A ENST00000334583.6 + 14 1532 c.1204G>A c.(1204-1206)Gga>Aga p.G402R RLTPR_ENST00000545661.1_Intron NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 402 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CTGGAGGGCGGGACGGGGAGG 0.692000 17 10 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118485072 118485072 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:118485072C>T ENST00000311085.8 + 18 3630 c.3550C>T c.(3550-3552)Cct>Tct p.P1184S DMXL1_ENST00000539542.1_Missense_Mutation_p.P1184S NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1184 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) CCTGGCATTTCCTCTCTGGGA 0.443000 110 115 0 0 1 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50723953 50723953 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:50723953A>T ENST00000515869.1 - 6 2732 c.2612T>A c.(2611-2613)aTt>aAt p.I871N PGBD3_ENST00000374127.3_Missense_Mutation_p.I403N|PGBD3_ENST00000508005.2_Missense_Mutation_p.I403N|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.I871N|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.I871N NM_001277059.1 NP_001263988.1 TTTGCCATCAATTCGATAATC 0.428000 40 82 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884229 23884229 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:23884229C>T ENST00000355349.3 - 37 5696 c.5534G>A c.(5533-5535)cGg>cAg p.R1845Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1845 R -> W (in MYOMS and SPMM; dbSNP:rs28933098). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTGATGCGCCGCTCGCTCTT 0.627000 107 137 0 0 1 0 0 TREX1 11277 broad.mit.edu 37 3 48508989 48508989 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:48508989C>T ENST00000296443.9 + 3 1822 c.935C>T c.(934-936)cCt>cTt p.P312L TREX1_ENST00000456089.1_Missense_Mutation_p.P173L|TREX1_ENST00000433541.1_Missense_Mutation_p.P173L|TREX1_ENST00000444177.1_Missense_Mutation_p.P302L|TREX1_ENST00000436480.2_Missense_Mutation_p.P312L|TREX1_ENST00000422277.2_Missense_Mutation_p.P367L Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 367 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CTGGCCACACCTGGGGAGTAG 0.592000 21 22 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129951878 129951878 + Splice_Site SNP G G A rs147548483 byFrequency TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:129951878G>A ENST00000222482.4 + 10 1022 c.993_splice c.e10-1 p.D332_splice CPA4_ENST00000493259.1_Splice_Site_p.D228_splice|CPA4_ENST00000445470.2_Splice_Site_p.D299_splice NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 332 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) CCCTTCCCAGGACAAGGTGGC 0.557000 10 32 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454805 114454805 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:114454805C>A ENST00000369563.3 + 4 2037 c.1591C>A c.(1591-1593)Ccc>Acc p.P531T DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 531 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) 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) ATACCATAAACCCTGCTGAAG 0.448000 Other identified genes with known or suspected DNA repair function 38 52 8.05096e-08 8.15821e-08 1 1 0 ABCB11 8647 broad.mit.edu 37 2 169833151 169833151 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:169833151C>T ENST00000263817.6 - 12 1368 c.1244G>A c.(1243-1245)cGa>cAa p.R415Q NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 415 R -> Q. 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) ACCCTTGATTCGATCCAACTT 0.413000 17 31 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122091463 122091463 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:122091463G>A ENST00000334010.7 - 14 2677 c.2256C>T c.(2254-2256)ctC>ctT p.L752L CADPS2_ENST00000449022.2_Silent_p.L751L|CADPS2_ENST00000313070.7_Silent_p.L748L|CADPS2_ENST00000412584.2_Silent_p.L748L NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 751 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 AAAGGGAAGAGAGTCTCTCTT 0.303000 20 29 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72926463 72926463 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:72926463C>T ENST00000331427.4 + 6 825 c.733C>T c.(733-735)Ccc>Tcc p.P245S OTOP2_ENST00000580223.1_Missense_Mutation_p.P245S NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 245 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) CTACCTATATCCCTTCAACAT 0.572000 114 220 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753419 13753419 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:13753419G>A ENST00000265104.4 - 63 10899 c.10795C>T c.(10795-10797)Cgt>Tgt p.R3599C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3599 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAAGGGTAACGAGATGCCTTC 0.373000 Kartagener syndrome 82 44 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474818 140474818 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140474818C>T ENST00000194155.4 + 1 592 c.444C>T c.(442-444)atC>atT p.I148I NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 148 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGAAAGTATCACTCCTGGAA 0.408000 23 40 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212662 26212662 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:26212662C>T ENST00000379034.1 + 2 848 c.699C>T c.(697-699)ttC>ttT p.F233F NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 233 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AGCCCTACTTCCCTCAGATCC 0.498000 57 22 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076527 9076527 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:9076527G>A ENST00000397910.4 - 3 11122 c.10919C>T c.(10918-10920)aCc>aTc p.T3640I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3641 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 GACCAGGCTGGTTCCAATGAC 0.458000 38 48 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52183738 52183738 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:52183738C>T ENST00000282588.6 + 8 1323 c.865C>T c.(865-867)Cga>Tga p.R289* NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 289 VWFA. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) TGACAATCATCGACTGAAGAA 0.428000 33 61 0 0 1 0 0 ISPD 729920 broad.mit.edu 37 7 16415867 16415867 + Splice_Site SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:16415867C>T ENST00000407010.2 - 3 534 c.e3-1 ISPD_ENST00000399310.3_Intron NM_001101426.3 NP_001094896.1 A4D126 ISPD_HUMAN isoprenoid synthase domain containing isoprenoid biosynthetic process nucleotidyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 CTCCTGCTGCCTGAAGAACAA 0.418000 Multiple Myeloma(15;0.18) 17 43 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97216949 97216949 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:97216949C>T ENST00000454558.2 + 7 1657 c.480C>T c.(478-480)tcC>tcT p.S160S ARID5A_ENST00000357485.3_Silent_p.S228S Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 228 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 CTTCTGTGTCCTTTGTGGGTG 0.597000 39 65 0 0 1 0 0 TOR4A 54863 broad.mit.edu 37 9 140173349 140173349 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:140173349G>A ENST00000357503.2 + 2 404 c.208G>A c.(208-210)Gac>Aac p.D70N NM_017723.2 NP_060193.2 Q9NXH8 CI167_HUMAN torsin family 4, member A 70 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity ACCGCGCGCGGACCTGGACCA 0.736000 4 4 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73152280 73152280 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:73152280C>T ENST00000377110.2 - 25 3956 c.3713G>A c.(3712-3714)aGa>aAa p.R1238K TRPM3_ENST00000360823.2_Missense_Mutation_p.R1100K|TRPM3_ENST00000357533.2_Missense_Mutation_p.R1242K|TRPM3_ENST00000423814.3_Missense_Mutation_p.R1265K|TRPM3_ENST00000396285.1_Missense_Mutation_p.R1097K|TRPM3_ENST00000396280.5_Missense_Mutation_p.R1087K|TRPM3_ENST00000408909.2_Missense_Mutation_p.R1097K|TRPM3_ENST00000396292.4_Missense_Mutation_p.R1110K|TRPM3_ENST00000377105.1_Missense_Mutation_p.R1097K|TRPM3_ENST00000377111.2_Missense_Mutation_p.R1238K|TRPM3_ENST00000377106.1_Missense_Mutation_p.R1110K|TRPM3_ENST00000358082.3_Missense_Mutation_p.R1100K NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1263 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GGAGTGCTCTCTCTCGTTGAC 0.602000 26 8 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448661 91448661 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:91448661C>T ENST00000360468.3 + 2 331 c.313C>T c.(313-315)Cgg>Tgg p.R105W MAN2A2_ENST00000559717.1_Missense_Mutation_p.R105W NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 105 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 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) ACCGGAGCCCCGGCCCAGCTT 0.657000 47 40 0 0 1 0 0 ABHD16B 140701 broad.mit.edu 37 20 62493878 62493878 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:62493878G>A ENST00000369916.3 + 1 1313 c.985G>A c.(985-987)Ggc>Agc p.G329S NM_080622.3 NP_542189.1 Q9H3Z7 ABHGB_HUMAN abhydrolase domain containing 16B 329 hydrolase activity endometrium(2)|kidney(1)|lung(3) 6 CAGCACTTCGGGCCGCCTGCG 0.697000 5 13 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53544340 53544340 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:53544340G>A ENST00000371500.3 + 10 1586 c.1245G>A c.(1243-1245)atG>atA p.M415I RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.M434I|PODN_ENST00000395871.2_Missense_Mutation_p.M292I NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 386 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 GCACCCTCATGATCCTGCACA 0.632000 90 154 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68620305 68620305 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:68620305G>A ENST00000234313.7 + 7 953 c.774G>A c.(772-774)agG>agA p.R258R NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 258 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) GGCATAGAAGGAAAAACTGGA 0.428000 54 127 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10252841 10252841 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:10252841G>A ENST00000340748.4 - 29 3359 c.3124C>T c.(3124-3126)Ctc>Ttc p.L1042F DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.L1042F|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1058F P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1042 BAH 2. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CTCCAGTAGAGCAGGTTGATG 0.627000 35 52 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45475630 45475630 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:45475630C>T ENST00000291574.4 + 5 709 c.534C>T c.(532-534)tcC>tcT p.S178S TRAPPC10_ENST00000380221.3_Silent_p.S178S NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 178 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 CTCAGGAATCCTGGAATGCCT 0.473000 76 133 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43052891 43052891 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:43052891G>A ENST00000316099.3 + 8 1215 c.1126G>A c.(1126-1128)Gga>Aga p.G376R HNF4A_ENST00000457232.1_Missense_Mutation_p.G354R|HNF4A_ENST00000443598.2_Missense_Mutation_p.G376R|HNF4A_ENST00000415691.1_Missense_Mutation_p.G376R NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 376 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GATGCTGCTGGGAGGTCCGTG 0.607000 9 21 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57005372 57005372 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:57005372A>T ENST00000179765.5 - 8 1764 c.1565T>A c.(1564-1566)cTt>cAt p.L522H BAZ2A_ENST00000551812.1_Missense_Mutation_p.L554H|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L552H|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L524H Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 554 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TTGGAGGGGAAGACGAACTTC 0.413000 17 26 0 0 1 0 0 OTOR 56914 broad.mit.edu 37 20 16729556 16729556 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:16729556G>A ENST00000246081.2 + 2 204 c.160G>A c.(160-162)Gac>Aac p.D54N NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin 54 SH3. sensory perception of sound extracellular region p.D54N(1) breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 TAATGCCCCGGACTGTAGATT 0.363000 18 32 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229772852 229772852 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:229772852C>T ENST00000258243.2 + 4 2628 c.2492C>T c.(2491-2493)tCa>tTa p.S831L NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 831 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 CAGCGTGACTCAGGTCTTGTC 0.493000 54 85 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113174322 113174322 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:113174322G>A ENST00000261965.3 - 15 1945 c.1759C>T c.(1759-1761)Cgt>Tgt p.R587C TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R587C NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 587 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton p.R587S(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 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) GTAGCTGGACGGACAAGTTCT 0.348000 120 91 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 5 40 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106130743 106130743 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:106130743G>A ENST00000369704.3 + 7 1155 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 341 p.E341*(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GCACCACACCGAAGATCAAAA 0.393000 23 8 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111636104 111636104 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:111636104C>T ENST00000527614.1 - 2 184 c.119G>A c.(118-120)cGa>cAa p.R40Q PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R40Q|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R40Q|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R40Q|PPP2R1B_ENST00000427203.2_5'UTR NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 40 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) ACTGTTGAGTCGGAGCTTCAG 0.373000 35 17 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55075817 55075817 + Nonsense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:55075817A>T ENST00000262288.3 + 10 1007 c.952A>T c.(952-954)Aga>Tga p.R318* NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 318 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) TGGCCCCATCAGAAAGAAGCT 0.443000 38 58 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9391729 9391729 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:9391729C>T ENST00000378501.2 + 21 2024 c.2009C>T c.(2008-2010)tCg>tTg p.S670L PLCB4_ENST00000278655.4_Missense_Mutation_p.S670L|PLCB4_ENST00000378493.1_Missense_Mutation_p.S670L|PLCB4_ENST00000414679.2_Missense_Mutation_p.S682L|PLCB4_ENST00000334005.3_Missense_Mutation_p.S670L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.S682L NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 670 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.S670L(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TATAATGGATCGTGCGGGTGA 0.363000 34 43 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38945876 38945876 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:38945876G>A ENST00000355481.4 + 14 1573 c.1440_splice c.e14-1 p.G481_splice RYR1_ENST00000360985.3_Splice_Site_p.G481_splice|RYR1_ENST00000359596.3_Splice_Site_p.G481_splice NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 481 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) TCATCCTAGGGGATGCTCTCC 0.502000 OREG0005269 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=RYR1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 41 94 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33666309 33666309 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:33666309G>A ENST00000355868.3 + 11 1326 c.1250G>A c.(1249-1251)aGa>aAa p.R417K WDR88_ENST00000361680.2_3'UTR NM_173479.3 NP_775750.3 Q6ZMY6 WDR88_HUMAN WD repeat domain 88 417 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) CAGTGCGAAAGATGTGACAGG 0.488000 53 128 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69798408 69798408 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:69798408G>A ENST00000251566.4 - 3 964 c.934C>T c.(934-936)Caa>Taa p.Q312* UGT2A3_ENST00000420231.2_Nonsense_Mutation_p.Q23* NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 312 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTAACATTTTGAAACAGTGAC 0.403000 105 86 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36691693 36691693 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:36691693C>T ENST00000216181.5 - 26 3573 c.3343G>A c.(3343-3345)Gaa>Aaa p.E1115K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1115 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TCCTGGAGTTCAGAGATCTGA 0.512000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 20 23 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7619900 7619900 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:7619900C>T ENST00000221249.6 + 25 3073 c.2642C>T c.(2641-2643)tCg>tTg p.S881L PNPLA6_ENST00000450331.3_Missense_Mutation_p.S881L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S854L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S929L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S919L NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 920 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 AGCTGGTGCTCGGGGCACCTG 0.711000 10 15 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79374023 79374023 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:79374023C>T ENST00000350881.2 + 17 2428 c.2238C>T c.(2236-2238)atC>atT p.I746I THBS4_ENST00000511733.1_Silent_p.I655I|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 746 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ATGCCCAGATCGATCCCAACT 0.587000 16 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641768 179641768 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179641768C>T ENST00000589042.1 - 28 5047 c.4823G>A c.(4822-4824)gGa>gAa p.G1608E TTN_ENST00000591111.1_Missense_Mutation_p.G1608E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G1562E|TTN_ENST00000359218.5_Missense_Mutation_p.G1562E|TTN_ENST00000360870.5_Missense_Mutation_p.G1608E|TTN_ENST00000342992.6_Missense_Mutation_p.G1608E|TTN_ENST00000460472.2_Missense_Mutation_p.G1562E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1344 Ig-like 7. 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) TCCCTTGGTTCCTTCAATTCT 0.398000 29 37 0 0 1 0 0 VN1R4 317703 broad.mit.edu 37 19 53770208 53770208 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:53770208G>A ENST00000311170.4 - 1 764 c.711C>T c.(709-711)atC>atT p.I237I NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 237 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) TGCTCACCAGGATGAGGATGC 0.502000 HNSCC(26;0.072) 8 16 0 0 1 0 0 LRRC20 55222 broad.mit.edu 37 10 72100313 72100313 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:72100313G>A ENST00000355790.4 - 3 705 c.228C>T c.(226-228)ctC>ctT p.L76L LRRC20_ENST00000395011.1_Intron|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000395010.1_Silent_p.L76L|LRRC20_ENST00000373224.1_Silent_p.L76L NM_001278212.1|NM_001278214.1|NM_207119.1 NP_001265141.1|NP_001265143.1|NP_997002.1 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 76 endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1) 9 GCCTACCTCGGAGCTGACTGA 0.597000 25 48 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967339 41967339 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:41967339G>A ENST00000298919.7 + 10 2366 c.1978G>A c.(1978-1980)Gaa>Aaa p.E660K PDZRN4_ENST00000539469.2_Missense_Mutation_p.E662K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E920K Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 920 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AAAGATCAAGGAAGAGCGGAG 0.527000 42 21 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233750226 233750226 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:233750226C>T ENST00000366621.3 + 1 477 c.309C>T c.(307-309)gaC>gaT p.D103D NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 103 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GGAACTGGGACTTCACCTCCG 0.677000 13 10 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17409438 17409438 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:17409438G>A ENST00000470360.1 + 8 1235 c.1118G>A c.(1117-1119)gGa>gAa p.G373E SLC7A2_ENST00000398090.3_Missense_Mutation_p.G373E|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G373E|SLC7A2_ENST00000494857.1_Missense_Mutation_p.G333E|SLC7A2_ENST00000522656.1_Missense_Mutation_p.G333E P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 333 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) GAATATGTGGGATGGGGTCCT 0.502000 33 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613026 179613026 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179613026C>T ENST00000360870.5 - 46 14323 c.14101G>A c.(14101-14103)Gaa>Aaa p.E4701K TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 813 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTCTTTTTCTAAAGAAATG 0.308000 30 39 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112655 148112655 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:148112655G>A ENST00000361727.3 + 24 4459 c.3943G>A c.(3943-3945)Gac>Aac p.D1315N CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D374N|CNTNAP2_ENST00000463592.2_3'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1315 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CATGAACAACGACCCCAACTT 0.547000 HNSCC(39;0.1) 45 56 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54626042 54626042 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:54626042T>A ENST00000545554.1 + 15 4572 c.4572T>A c.(4570-4572)ttT>ttA p.F1524L UNC13C_ENST00000537900.1_Missense_Mutation_p.F1522L|UNC13C_ENST00000260323.11_Missense_Mutation_p.F1524L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1524 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTATCACCTTTTTTAGGATGA 0.368000 7 3 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539327 55539327 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:55539327G>A ENST00000220676.1 + 4 3033 c.2885G>A c.(2884-2886)gGa>gAa p.G962E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 962 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) ACAAATTCTGGAAAAATAAGT 0.313000 36 50 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55331457 55331457 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:55331457C>T ENST00000391728.4 + 4 678 c.645C>T c.(643-645)atC>atT p.I215I KIR3DL1_ENST00000541392.1_Silent_p.I215I|KIR3DL1_ENST00000326542.7_Silent_p.I215I|KIR3DL1_ENST00000538269.1_Silent_p.I215I|KIR3DL1_ENST00000358178.4_Silent_p.I120I|KIR3DL1_ENST00000402254.2_Silent_p.I215I NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CCCTGGACATCGTGGTCACAG 0.527000 89 123 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8563776 8563776 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:8563776G>A ENST00000423345.4 - 2 1436 c.916C>T c.(916-918)Ccc>Tcc p.P306S PRAM1_ENST00000255612.3_Missense_Mutation_p.P306S Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 354 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GGCCTCTTGGGAAGCACGCTG 0.667000 15 19 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60785401 60785401 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:60785401C>T ENST00000313421.7 + 11 1939 c.1753C>T c.(1753-1755)Ccc>Tcc p.P585S CD6_ENST00000452451.2_Missense_Mutation_p.P544S|CD6_ENST00000346437.4_Missense_Mutation_p.P512S|CD6_ENST00000344028.5_Missense_Mutation_p.P553S|CD6_ENST00000352009.5_Missense_Mutation_p.P553S NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 585 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 TCCATGGAACCCCCAGGTGTT 0.582000 44 87 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84582036 84582036 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:84582036C>T ENST00000286744.5 + 16 2117 c.1893C>T c.(1891-1893)tcC>tcT p.S631S ADAMTSL3_ENST00000567476.1_Silent_p.S631S NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 631 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GCCCGGCCTCCCGAGAGCTAG 0.607000 25 23 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22068759 22068759 + Missense_Mutation SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:22068759A>G ENST00000261200.4 - 5 658 c.659T>C c.(658-660)gTg>gCg p.V220A ABCC9_ENST00000261201.4_Missense_Mutation_p.V220A|ABCC9_ENST00000345162.2_Missense_Mutation_p.V220A NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 220 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGCAAATTCACAAATGGTTG 0.378000 38 40 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127685680 127685680 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:127685680C>T ENST00000508053.1 - 28 3804 c.2830G>A c.(2830-2832)Ggg>Agg p.G944R FBN2_ENST00000262464.4_Missense_Mutation_p.G944R|FBN2_ENST00000508989.1_Missense_Mutation_p.G911R P35556 FBN2_HUMAN fibrillin 2 944 TB 4. 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) CTGGCAAGCCCTCTTGGGCAA 0.358000 35 29 0 0 1 0 0 METTL21B 25895 broad.mit.edu 37 12 58174276 58174276 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:58174276C>T ENST00000300209.8 + 3 653 c.528C>T c.(526-528)atC>atT p.I176I METTL21B_ENST00000333012.5_3'UTR|RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_5'UTR|RP11-571M6.15_ENST00000471530.1_Intron NM_015433.2 NP_056248.2 Q96AZ1 MT21B_HUMAN methyltransferase like 21B 176 integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 ATGGCACCATCTATCTGGCCT 0.587000 15 29 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33604796 33604796 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:33604796C>G ENST00000170564.2 + 14 2330 c.2016C>G c.(2014-2016)caC>caG p.H672Q NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 672 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) TATCACAGCACCGAGGTCCCG 0.527000 18 23 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82456635 82456635 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:82456635C>T ENST00000370728.1 + 25 4831 c.4186C>T c.(4186-4188)Ccc>Tcc p.P1396S LPHN2_ENST00000370723.1_Missense_Mutation_p.P1398S|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.P1368S|LPHN2_ENST00000335786.5_Missense_Mutation_p.P1353S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P1411S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P1340S|LPHN2_ENST00000394879.1_Missense_Mutation_p.P1398S|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370730.1_Missense_Mutation_p.P1353S|LPHN2_ENST00000319517.6_Missense_Mutation_p.P1340S|LPHN2_ENST00000370717.2_Missense_Mutation_p.P1411S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.P1368S|LPHN2_ENST00000370721.1_Missense_Mutation_p.P1321S O95490 LPHN2_HUMAN latrophilin 2 1396 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AGACCTCTCTCCCTCCAGGAG 0.502000 40 66 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100453015 100453015 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:100453015C>T ENST00000279907.7 - 14 2252 c.2040G>A c.(2038-2040)ttG>ttA p.L680L UHRF1BP1L_ENST00000545232.2_Silent_p.L330L NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 680 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TGTTTTTATTCAATTGGGGAG 0.343000 28 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542471 179542471 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179542471C>T ENST00000589042.1 - 146 34392 c.34168G>A c.(34168-34170)Gaa>Aaa p.E11390K TTN_ENST00000591111.1_Missense_Mutation_p.E11073K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10146K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11073 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGGAATTTCCTCTTCTTCA 0.433000 77 106 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183104852 183104852 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:183104852C>T ENST00000435564.1 - 3 583 c.383G>A c.(382-384)gGa>gAa p.G128E PDE1A_ENST00000331935.6_Missense_Mutation_p.G128E|PDE1A_ENST00000351439.5_Missense_Mutation_p.G112E|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.G94E|PDE1A_ENST00000456212.1_Missense_Mutation_p.G128E|PDE1A_ENST00000410103.1_Missense_Mutation_p.G128E|PDE1A_ENST00000409365.1_Missense_Mutation_p.G112E|PDE1A_ENST00000358139.2_Missense_Mutation_p.G128E|PDE1A_ENST00000536095.1_Missense_Mutation_p.G24E NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 128 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CACAAAAATTCCAGCTTGAAC 0.388000 32 55 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88420231 88420231 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:88420231C>T ENST00000394480.1 - 19 2734 c.2413G>A c.(2413-2415)Gag>Aag p.E805K NTRK3_ENST00000557856.1_Missense_Mutation_p.E797K|NTRK3_ENST00000360948.2_Missense_Mutation_p.E819K|NTRK3_ENST00000357724.2_Missense_Mutation_p.E811K|NTRK3_ENST00000355254.2_Missense_Mutation_p.E805K NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 819 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TTGTAGATCTCCTTGATGTTC 0.542000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 58 14 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128183669 128183669 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:128183669C>T ENST00000453608.2 + 6 717 c.709C>T c.(709-711)Cct>Tct p.P237S PROC_ENST00000409048.1_Missense_Mutation_p.P216S|PROC_ENST00000234071.3_Missense_Mutation_p.P182S|PROC_ENST00000422777.3_Missense_Mutation_p.P182S P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 182 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) AGTGAAGTTCCCTTGTGGGAG 0.592000 39 42 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49694044 49694044 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:49694044C>T ENST00000296452.4 + 5 7169 c.7055C>T c.(7054-7056)cCa>cTa p.P2352L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2352 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTCAGCCGGCCAGGGTTCGAG 0.647000 10 10 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38216753 38216753 + Silent SNP C C T rs146170943 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:38216753C>T ENST00000407257.1 + 6 1542 c.1395C>T c.(1393-1395)ctC>ctT p.L465L RMDN2_ENST00000234195.3_Silent_p.L465L|RMDN2_ENST00000417700.2_Silent_p.L142L|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Silent_p.L287L|RMDN2_ENST00000354545.2_Silent_p.L287L regulator of microtubule dynamics 2 ATGGGCACCTCTTCAAGGTAT 0.308000 24 40 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71495071 71495071 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:71495071C>T ENST00000296755.7 + 5 6187 c.5889C>T c.(5887-5889)acC>acT p.T1963T NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1963 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GTGAAAAGACCACCAGCCCCC 0.478000 85 79 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611406 179611406 + Missense_Mutation SNP C C T rs147119153 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179611406C>T ENST00000360870.5 - 46 15943 c.15721G>A c.(15721-15723)Gaa>Aaa p.E5241K TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8760 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E5241K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAGAAATTTCCAGTGAACAC 0.393000 28 74 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151775136 151775136 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:151775136G>A ENST00000368820.3 - 2 982 c.45C>T c.(43-45)ccC>ccT p.P15P NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 15 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AAAGGAGCGGGGGCCATGGGG 0.602000 5 8 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121748158 121748158 + Silent SNP C C T rs144803259 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:121748158C>T ENST00000452319.1 + 14 4728 c.4668C>T c.(4666-4668)atC>atT p.I1556I GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.I1556I P10070 GLI2_HUMAN GLI family zinc finger 2 1556 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) TGCCCTCCATCCCCGCAGGCA 0.627000 92 115 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30966411 30966411 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:30966411G>A ENST00000295055.8 - 13 1459 c.1283C>T c.(1282-1284)tCc>tTc p.S428F CAPN13_ENST00000534090.2_Missense_Mutation_p.S428F NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 428 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TCTGAACGAGGAAAAAAACAC 0.473000 64 83 0 0 1 0 0 MROH1 727957 broad.mit.edu 37 8 145223308 145223308 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:145223308C>T ENST00000528919.1 + 3 254 c.133C>T c.(133-135)Cgt>Tgt p.R45C MROH1_ENST00000398656.4_Missense_Mutation_p.R45C|MROH1_ENST00000423230.2_Missense_Mutation_p.R45C|MROH1_ENST00000326134.5_Missense_Mutation_p.R45C|MROH1_ENST00000534366.1_Missense_Mutation_p.R45C NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 GGAGACGCTCCGTGCCTGCGA 0.632000 24 36 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138377655 138377655 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:138377655C>T ENST00000356818.2 + 4 1848 c.1299C>T c.(1297-1299)acC>acT p.T433T PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.T433T|PPP1R26_ENST00000605660.1_Silent_p.T433T|PPP1R26_ENST00000605286.1_Silent_p.T433T|PPP1R26_ENST00000604351.1_Silent_p.T433T NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 433 nucleolus protein binding CCACCAAGACCATGGACCCTG 0.597000 22 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604308 179604308 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179604308G>A ENST00000589042.1 - 48 13876 c.13652C>T c.(13651-13653)cCt>cTt p.P4551L TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P4234L|TTN_ENST00000342175.6_Missense_Mutation_p.P4380L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4313L|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.P4188L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4234 Ig-like 25. 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) TTTAGTGACAGGTGTGGCATC 0.408000 29 32 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266758 65266758 + RNA SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:65266758T>C ENST00000534336.1 + 0 1526 NR_002819.2 AGATAAAAGGTTTCTAAAACA 0.313000 9 13 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114134037 114134037 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:114134037G>A ENST00000259335.4 - 44 5134 c.5135C>T c.(5134-5136)tCc>tTc p.S1712F KIAA0368_ENST00000338205.5_Missense_Mutation_p.S1534F|KIAA0368_ENST00000374378.3_5'UTR NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 CATTTTCCAGGACTGAGACTG 0.423000 65 27 0 0 1 0 0 CABP5 56344 broad.mit.edu 37 19 48547137 48547137 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:48547137C>T ENST00000293255.2 - 1 173 c.43G>A c.(43-45)Ggc>Agc p.G15S NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 15 signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) TCAGCAATGCCTTTCCTCAAG 0.642000 22 41 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10908841 10908841 + Missense_Mutation SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:10908841A>G ENST00000298232.7 - 22 1817 c.1450T>C c.(1450-1452)Ttt>Ctt p.F484L TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F464L|TPTE_ENST00000361285.4_Missense_Mutation_p.F502L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 502 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TTTTCAATAAAAGATGTGTGC 0.303000 16 28 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99945636 99945636 + Splice_Site SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:99945636C>T ENST00000372981.1 - 7 828 c.e7-1 SYTL4_ENST00000454200.2_Splice_Site|SYTL4_ENST00000263033.5_Splice_Site|SYTL4_ENST00000276141.6_Splice_Site|SYTL4_ENST00000372989.1_Splice_Site|SYTL4_ENST00000455616.1_Splice_Site Q96C24 SYTL4_HUMAN synaptotagmin-like 4 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGAGTCTCTCCTGGAGGTAGA 0.458000 20 8 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1546234 1546234 + Missense_Mutation SNP G G A rs145095981 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:1546234G>A ENST00000337415.3 + 16 2751 c.2660G>A c.(2659-2661)cGa>cAa p.R887Q TPO_ENST00000382198.1_Silent_p.P757P|TPO_ENST00000382201.3_Silent_p.P873P|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.P757P|TPO_ENST00000346956.3_Silent_p.P886P|TPO_ENST00000345913.4_Silent_p.P930P|TPO_ENST00000329066.4_Silent_p.P930P P07202 PERT_HUMAN thyroid peroxidase 0 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACAGGCTGCCGAGAGCCCTCT 0.493000 19 27 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189526145 189526145 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:189526145G>A ENST00000264731.3 + 4 498 c.409G>A c.(409-411)Gac>Aac p.D137N TP63_ENST00000440651.2_Missense_Mutation_p.D137N|TP63_ENST00000392460.3_Missense_Mutation_p.D137N|TP63_ENST00000437221.1_Missense_Mutation_p.D43N|TP63_ENST00000456148.1_Missense_Mutation_p.D43N|TP63_ENST00000354600.5_Missense_Mutation_p.D43N|TP63_ENST00000320472.5_Missense_Mutation_p.D137N|TP63_ENST00000418709.2_Missense_Mutation_p.D137N|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Missense_Mutation_p.D43N|TP63_ENST00000392461.3_Missense_Mutation_p.D43N NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 137 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CTATAACACAGACCACGCGCA 0.617000 HNSCC(45;0.13) 43 70 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908034 103908034 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:103908034G>A ENST00000302259.3 + 1 727 c.484G>A c.(484-486)Gaa>Aaa p.E162K PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 162 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CCTGCTCAAGGAACGCAACCC 0.622000 31 68 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85326718 85326718 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:85326718G>A ENST00000299927.3 + 1 834 c.812G>A c.(811-813)aGg>aAg p.R271K ZNF592_ENST00000560079.2_Missense_Mutation_p.R271K Q92610 ZN592_HUMAN zinc finger protein 592 271 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTCCCCCCTAGGCAGCGTCTA 0.557000 67 105 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47371546 47371546 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:47371546G>A ENST00000232766.5 + 4 527 c.507G>A c.(505-507)gaG>gaA p.E169E KLHL18_ENST00000455924.2_Silent_p.E57E NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 169 BACK. endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) ACTTTGTGGAGGTGTCCATGT 0.537000 27 49 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152512673 152512673 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:152512673C>T ENST00000427231.2 - 49 6691 c.6489G>A c.(6487-6489)caG>caA p.Q2163Q NEB_ENST00000172853.10_Silent_p.Q2163Q|NEB_ENST00000409198.1_Silent_p.Q2163Q|NEB_ENST00000603639.1_Silent_p.Q2163Q|NEB_ENST00000604864.1_Silent_p.Q2163Q|NEB_ENST00000397345.3_Silent_p.Q2163Q NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2163 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) TTACATCACTCTGTATGCGAT 0.438000 140 226 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8486364 8486364 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:8486364G>A ENST00000447869.1 - 3 1263 c.345C>T c.(343-345)atC>atT p.I115I STK33_ENST00000396673.1_Silent_p.I115I|STK33_ENST00000315204.1_Silent_p.I115I|STK33_ENST00000396672.1_Silent_p.I115I|STK33_ENST00000534493.1_Silent_p.I74I|STK33_ENST00000358872.3_5'UTR Q9BYT3 STK33_HUMAN serine/threonine kinase 33 115 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CAAAGGTATAGATTTCCTGGA 0.353000 33 53 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241461 3241461 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:3241461C>T ENST00000217939.6 - 5 2419 c.2265G>A c.(2263-2265)gaG>gaA p.E755E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 755 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) CAACATTGGTCTCTGGTTCTT 0.433000 60 24 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528298 20528298 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:20528298C>T ENST00000315683.1 + 1 95 c.95C>T c.(94-96)tCc>tTc p.S32F NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S32F(1) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GTGACATTTTCCCTGATCTAC 0.383000 54 110 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222298922 222298922 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:222298922G>A ENST00000281821.2 - 14 2477 c.2436C>T c.(2434-2436)atC>atT p.I812I EPHA4_ENST00000409854.1_Silent_p.I812I|EPHA4_ENST00000409938.1_Silent_p.I812I|EPHA4_ENST00000392071.4_Silent_p.I761I NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 812 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CCCACATAACGATTCCATAGC 0.433000 47 71 0 0 1 0 0 HTR5A-AS1 100128264 broad.mit.edu 37 7 154862852 154862852 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:154862852C>T ENST00000395731.2 - 1 415 c.162G>A c.(160-162)atG>atA p.M54I AC093726.4_ENST00000543018.1_Missense_Mutation_p.M54I|AC093726.4_ENST00000493904.1_5'UTR|HTR5A_ENST00000287907.2_Silent_p.S81S TGGTGGCATCCATGGCCGTCT 0.687000 14 31 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153588910 153588910 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:153588910G>A ENST00000422373.1 - 22 3501 c.3253C>T c.(3253-3255)Ccc>Tcc p.P1085S FLNA_ENST00000360319.4_Missense_Mutation_p.P1085S|FLNA_ENST00000344736.4_Missense_Mutation_p.P1085S|FLNA_ENST00000369850.3_Missense_Mutation_p.P1085S NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1085 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAGCGGGCGGGGGAGCCCGCA 0.687000 OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 43 12 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645996 51645996 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:51645996C>T ENST00000317643.6 + 1 439 c.370C>T c.(370-372)Cgt>Tgt p.R124C SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R124C|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R124C NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 124 cell adhesion integral to plasma membrane receptor activity|sugar binding p.R124C(1) 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) ATACTTCTTTCGTATGGAGAA 0.478000 47 65 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542055 55542055 + Silent SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:55542055T>C ENST00000220676.1 + 4 5761 c.5613T>C c.(5611-5613)ttT>ttC p.F1871F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1871 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) CTCATTCCTTTATTTCTGCTG 0.413000 37 39 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639732 149639732 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:149639732C>T ENST00000370401.2 + 4 2197 c.1887C>T c.(1885-1887)gcC>gcT p.A629A MAMLD1_ENST00000262858.5_Silent_p.A629A|MAMLD1_ENST00000426613.2_Silent_p.A604A|MAMLD1_ENST00000432680.2_Silent_p.A604A|MAMLD1_ENST00000455522.2_Silent_p.A110A Q13495 MAMD1_HUMAN mastermind-like domain containing 1 629 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) GATCAGTGGCCTCAGATTCCA 0.493000 55 25 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100998414 100998414 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:100998414T>C ENST00000325455.5 - 1 2841 c.1388A>G c.(1387-1389)tAc>tGc p.Y463C PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.Y463C NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 463 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CTCCGCTTTGTACAGGATGCA 0.761000 8 7 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49717509 49717509 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:49717509G>A ENST00000551245.1 + 2 229 c.118G>A c.(118-120)Gtg>Atg p.V40M TROAP_ENST00000548311.1_Missense_Mutation_p.V40M|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000550709.1_Missense_Mutation_p.V40M|TROAP_ENST00000257909.3_Missense_Mutation_p.V40M|TROAP_ENST00000549534.1_Missense_Mutation_p.V40M|TROAP_ENST00000549275.1_Missense_Mutation_p.V40M|TROAP_ENST00000380327.5_Missense_Mutation_p.V40M Q12815 TROAP_HUMAN trophinin associated protein 40 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 ATCGTGCGCCGTGGACCAGGA 0.547000 66 145 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48936978 48936978 + Nonsense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:48936978C>G ENST00000267163.4 + 8 884 c.746C>G c.(745-747)tCa>tGa p.S249* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 249 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTAATGGTTCACCTCGAACA 0.338000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 43 35 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33874911 33874911 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:33874911G>A ENST00000374408.3 - 4 1767 c.1671C>T c.(1669-1671)ctC>ctT p.L557L NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 557 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) CTCGGGACAGGAGATCCAGCT 0.662000 16 28 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7117251 7117251 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:7117251T>C ENST00000341500.5 - 21 3968 c.3929A>G c.(3928-3930)gAg>gGg p.E1310G INSR_ENST00000302850.5_Missense_Mutation_p.E1322G NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1322 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding p.E1322G(1) breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCCATGTCCTCAAACTCCAT 0.617000 51 75 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50131270 50131270 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:50131270A>T ENST00000347869.3 + 4 476 c.301A>T c.(301-303)Atg>Ttg p.M101L RBM5_ENST00000469838.1_Missense_Mutation_p.M101L NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 101 RRM 1. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAAGACCATCATGCTGCGCGG 0.502000 56 77 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1629868 1629868 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:1629868C>T ENST00000381580.1 - 2 340 c.161G>A c.(160-162)aGg>aAg p.R54K SIRPG_ENST00000344103.4_Missense_Mutation_p.R87K|SIRPG_ENST00000216927.4_Missense_Mutation_p.R87K|SIRPG_ENST00000381583.2_Missense_Mutation_p.R87K|SIRPG_ENST00000303415.3_Missense_Mutation_p.R87K Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 87 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TGTTGTTACCCTGGGGAAGTG 0.512000 48 82 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11583139 11583139 + Missense_Mutation SNP G G A rs140587305 byFrequency TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:11583139G>A ENST00000262442.3 + 18 3487 c.3419G>A c.(3418-3420)gGa>gAa p.G1140E DNAH9_ENST00000454412.2_Missense_Mutation_p.G1140E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1140 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTTGAAAAAGGAGATTTCCAA 0.423000 53 91 0 0 1 0 0 PHF8 23133 broad.mit.edu 37 X 54014369 54014369 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:54014369C>G ENST00000338154.6 - 15 2243 c.1739G>C c.(1738-1740)aGg>aCg p.R580T PHF8_ENST00000322659.8_Missense_Mutation_p.R580T|PHF8_ENST00000357988.5_Missense_Mutation_p.R616T|PHF8_ENST00000338946.6_Missense_Mutation_p.R479T NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 616 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 ACTCTTCACCCTTTTCGTACT 0.423000 17 7 0 0 1 0 0 LYSMD1 388695 broad.mit.edu 37 1 151133436 151133436 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:151133436G>A ENST00000368908.5 - 3 1266 c.606C>T c.(604-606)gtC>gtT p.V202V LYSMD1_ENST00000440902.2_Silent_p.V154V NM_212551.4 NP_997716.1 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain containing 1 202 cell wall macromolecule catabolic process endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGGACCTAGGACTGCTCGTT 0.572000 42 57 0 0 1 0 0 FASTKD1 79675 broad.mit.edu 37 2 170386370 170386370 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:170386370C>T ENST00000453153.2 - 15 2855 c.2509G>A c.(2509-2511)Gaa>Aaa p.E837K FASTKD1_ENST00000495505.1_5'UTR|FASTKD1_ENST00000453929.2_Missense_Mutation_p.E794K NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 837 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 AATATACATTCTCTCAGGTAG 0.338000 20 44 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94120810 94120810 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:94120810G>A ENST00000369303.4 - 3 425 c.241C>T c.(241-243)Caa>Taa p.Q81* EPHA7_ENST00000369297.1_Nonsense_Mutation_p.Q81* NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 81 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) CAGTTGTTTTGGTTGGGCTCC 0.428000 59 126 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298816 107298816 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:107298816C>T ENST00000374781.2 - 1 321 c.279G>A c.(277-279)ctG>ctA p.L93L NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AGAGGTTGCCCAGGAAGAAGT 0.393000 35 64 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201046079 201046079 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:201046079T>C ENST00000362061.3 - 12 2022 c.1796A>G c.(1795-1797)aAc>aGc p.N599S CACNA1S_ENST00000367338.3_Missense_Mutation_p.N599S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 599 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTGGGGAAAGTTGTCAAAGTT 0.537000 61 101 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908033 103908033 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:103908033G>A ENST00000302259.3 + 1 726 c.483G>A c.(481-483)aaG>aaA p.K161K PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 161 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CCCTGCTCAAGGAACGCAACC 0.622000 31 68 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61026747 61026747 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:61026747G>A ENST00000335613.5 - 20 2654 c.2268C>T c.(2266-2268)tcC>tcT p.S756S VWCE_ENST00000535710.1_Silent_p.S221S NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 756 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TTCCGTGAGGGGAGAGCCCCT 0.582000 27 50 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153677519 153677519 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:153677519G>A ENST00000297107.6 + 3 418 c.281G>A c.(280-282)aGa>aAa p.R94K GALNT10_ENST00000377661.2_Missense_Mutation_p.R94K|GALNT10_ENST00000425427.2_Missense_Mutation_p.R94K NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 94 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GAACAAGGAAGACCTTACCCC 0.418000 64 74 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597335 136597335 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:136597335G>A ENST00000531224.1 - 5 1580 c.1328C>T c.(1327-1329)tCa>tTa p.S443L BCLAF1_ENST00000392348.2_Missense_Mutation_p.S441L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S443L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S441L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S441L|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 443 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GCCTTTCAGTGAAACTTTGGA 0.398000 49 94 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 55 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23768735 23768735 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:23768735G>A ENST00000354639.3 + 6 745 c.281G>A c.(280-282)gGa>gAa p.G94E STK31_ENST00000428484.1_Missense_Mutation_p.G94E|STK31_ENST00000355870.3_Missense_Mutation_p.G117E|STK31_ENST00000433467.2_Missense_Mutation_p.G117E|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 117 Tudor. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ATTGACTATGGAAATACTGAA 0.358000 33 44 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141709478 141709478 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:141709478G>A ENST00000389484.3 - 19 3890 c.2919C>T c.(2917-2919)ttC>ttT p.F973F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 973 LDL-receptor class A 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTTGCATACGAATTGGGTTA 0.418000 TSP Lung(27;0.18) 23 37 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35129938 35129938 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:35129938C>T ENST00000436258.1 - 0 3431 TCACTTAGTTCTCACAACACA 0.318000 55 97 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54917207 54917207 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:54917207C>T ENST00000293373.6 + 19 1987 c.1908C>T c.(1906-1908)atC>atT p.I636I NCKAP1L_ENST00000545638.2_Silent_p.I586I NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 636 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CCACTACAATCAGCAAAGCCA 0.478000 89 143 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124281777 124281777 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:124281777G>A ENST00000360013.3 + 34 5144 c.5017G>A c.(5017-5019)Gta>Ata p.V1673I KALRN_ENST00000393496.1_Missense_Mutation_p.V46I NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1673 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGGGCAGACGGTAGAGCTGCT 0.662000 17 21 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20657730 20657730 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:20657730G>A ENST00000428453.1 - 0 2228 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TCACCAGGAGGAAGTGGGCTT 0.607000 19 24 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66204770 66204770 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:66204770C>T ENST00000503581.1 - 4 1071 c.534G>A c.(532-534)ctG>ctA p.L178L EYS_ENST00000393380.2_Silent_p.L178L|EYS_ENST00000370616.2_Silent_p.L178L|EYS_ENST00000370618.3_Silent_p.L178L|EYS_ENST00000342421.5_Silent_p.L178L|EYS_ENST00000370621.3_Silent_p.L178L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 178 EGF-like 1. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ATTCTGAACTCAGAGATTCCT 0.438000 37 36 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86310220 86310220 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:86310220G>A ENST00000263857.6 - 7 1180 c.802C>T c.(802-804)Ctg>Ttg p.L268L POLR1A_ENST00000409681.1_Silent_p.L268L O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 268 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 TTCTTCCACAGGGCAGAAAGG 0.453000 23 35 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952868 119952868 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:119952868C>T ENST00000307142.4 + 4 3134 c.2938C>T c.(2938-2940)Caa>Taa p.Q980* SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.Q980*|SYNPO2_ENST00000429713.2_Nonsense_Mutation_p.Q980*|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 980 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GTTTACTTTCCAACCTCCAGA 0.502000 15 34 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158324277 158324277 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:158324277G>A ENST00000368160.3 + 2 169 c.169G>A c.(169-171)Gga>Aga p.G57R CD1E_ENST00000368165.3_Missense_Mutation_p.G57R|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.G57R|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G55R|CD1E_ENST00000368155.3_Missense_Mutation_p.G57R|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G57R|CD1E_ENST00000368167.3_Missense_Mutation_p.G57R|CD1E_ENST00000368161.3_Missense_Mutation_p.G57R|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368154.1_Intron NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 57 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TGAGGGCTCAGGATGGCTGGG 0.562000 41 69 0 0 1 0 0 SNX24 28966 broad.mit.edu 37 5 122272495 122272495 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:122272495C>T ENST00000261369.4 + 2 312 c.127C>T c.(127-129)Cat>Tat p.H43Y SNX24_ENST00000395451.4_Missense_Mutation_p.H76Y|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Missense_Mutation_p.H43Y|SNX24_ENST00000513881.1_Missense_Mutation_p.H43Y NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 43 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) CAGCGAATTTCATGCTTTGCA 0.303000 29 46 0 0 1 0 0 LINC00202-2 731789 broad.mit.edu 37 10 26939635 26939635 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:26939635G>A ENST00000544033.1 + 0 5568 NR_026794.1 CGTCCCCcaggagaattgctt 0.522000 10 3 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88895799 88895799 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:88895799C>T ENST00000556553.1 + 8 1483 c.924C>T c.(922-924)tcC>tcT p.S308S SPATA7_ENST00000356583.5_Silent_p.S308S|SPATA7_ENST00000393545.4_Silent_p.S340S|SPATA7_ENST00000045347.7_Silent_p.S340S Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 340 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 TTCAGCATTCCTCACCAAGGT 0.358000 19 33 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49292840 49292840 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:49292840G>A ENST00000438782.1 + 7 786 c.550G>A c.(550-552)Gcc>Acc p.A184T CCDC36_ENST00000296449.5_Missense_Mutation_p.A184T|CCDC36_ENST00000452691.2_Missense_Mutation_p.A184T Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 184 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) GACTATACAGGCCCAGAATGA 0.458000 41 43 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160784358 160784358 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:160784358G>A ENST00000263285.5 + 4 909 c.879G>A c.(877-879)agG>agA p.R293R LY9_ENST00000368041.2_Silent_p.R253R|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.R293R NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 293 Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCAAAGAGAGGGAAGAAGCAG 0.542000 42 64 0 0 1 0 0 TP73-AS1 57212 broad.mit.edu 37 1 3659650 3659650 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:3659650G>A ENST00000452079.1 - 0 1820 TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA NR_033711.1 AAGCCGGAGAGGCCGCCGGGA 0.582000 6 1 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7649675 7649675 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:7649675C>T ENST00000359156.4 - 5 1035 c.833G>A c.(832-834)aGa>aAa p.R278K CD163_ENST00000396620.3_Missense_Mutation_p.R278K|CD163_ENST00000541972.1_Missense_Mutation_p.R266K|CD163_ENST00000432237.2_Missense_Mutation_p.R278K NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 278 SRCR 3. 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 CACTTCTAATCTTCCTGAACA 0.488000 49 92 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65269048 65269048 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:65269048C>T ENST00000534336.1 + 0 3816 NR_002819.2 ATGTTTTTTTCTAAGATTTTC 0.418000 43 51 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25958930 25958930 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:25958930G>A ENST00000356865.6 - 10 2346 c.2235C>T c.(2233-2235)gtC>gtT p.V745V NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 745 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCCTCTTGCGGACGGAATCGA 0.612000 46 16 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6836570 6836570 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:6836570C>T ENST00000304076.2 + 20 1999 c.1905C>T c.(1903-1905)aaC>aaT p.N635N VAV1_ENST00000602142.1_Silent_p.N635N|VAV1_ENST00000599806.1_Silent_p.N580N|VAV1_ENST00000596764.1_Silent_p.N603N|VAV1_ENST00000539284.1_Silent_p.N538N NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 635 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CTGAACAGAACTGGTGGGAGG 0.562000 19 27 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94160746 94160746 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:94160746C>T ENST00000553484.1 + 49 7873 c.7719C>T c.(7717-7719)acC>acT p.T2573T UNC79_ENST00000555664.1_Silent_p.T2512T|UNC79_ENST00000393151.2_Silent_p.T2551T|UNC79_ENST00000256339.4_Silent_p.T2374T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2551 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCAATTCGACCATTTTTGTCA 0.333000 24 28 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119739040 119739040 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:119739040T>A ENST00000313400.4 - 8 1716 c.1616A>T c.(1615-1617)tAt>tTt p.Y539F ASTN2_ENST00000361209.2_Missense_Mutation_p.Y488F|ASTN2_ENST00000373996.3_Missense_Mutation_p.Y539F|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 539 EGF-like 1. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GTCAGGGGCATAGCCTTCATG 0.493000 11 35 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95001394 95001394 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:95001394G>A ENST00000357742.4 + 19 2279 c.2279G>A c.(2278-2280)aGa>aAa p.R760K MCTP2_ENST00000451018.3_Missense_Mutation_p.R705K NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 760 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTGATTGAAAGAATCTATATG 0.299000 29 45 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76621384 76621384 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:76621384G>A ENST00000264917.5 + 3 465 c.420G>A c.(418-420)aaG>aaA p.K140K PDE8B_ENST00000340978.3_Silent_p.K140K|PDE8B_ENST00000342343.4_Silent_p.K120K|PDE8B_ENST00000333194.4_Silent_p.K140K|PDE8B_ENST00000346042.3_Silent_p.K140K NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 140 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TCTTTGCAAAGGAAGATAGTC 0.453000 71 99 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64881025 64881025 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:64881025C>T ENST00000169565.3 + 4 817 c.817C>T c.(817-819)Ctg>Ttg p.L273L CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 0 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GAGCTGTGTCCTGTGCAGACC 0.622000 34 67 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65343827 65343827 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:65343827C>T ENST00000309295.4 + 1 319 c.54C>T c.(52-54)ttC>ttT p.F18F NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 18 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CGGCCAAGTTCCAGTTCGTGG 0.682000 3 7 0 0 1 0 0 VIPAS39 63894 broad.mit.edu 37 14 77920439 77920439 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:77920439G>A ENST00000553888.1 - 2 517 c.7C>T c.(7-9)Cgg>Tgg p.R3W VIPAS39_ENST00000557658.1_Missense_Mutation_p.R3W|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R3W|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R29W|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R3W 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 CCCTTTGTCCGATTCATCTAC 0.453000 17 35 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152818550 152818550 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:152818550G>A ENST00000370186.1 + 11 2165 c.1839G>A c.(1837-1839)cgG>cgA p.R613R ATP2B3_ENST00000370181.2_Silent_p.R613R|ATP2B3_ENST00000393842.1_Silent_p.R613R|ATP2B3_ENST00000349466.2_Silent_p.R627R|ATP2B3_ENST00000359149.3_Silent_p.R627R|ATP2B3_ENST00000263519.4_Silent_p.R627R Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 627 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCGGGACCGGGACGACATGG 0.627000 33 14 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114134036 114134036 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:114134036G>A ENST00000259335.4 - 44 5135 c.5136C>T c.(5134-5136)tcC>tcT p.S1712S KIAA0368_ENST00000338205.5_Silent_p.S1534S|KIAA0368_ENST00000374378.3_5'UTR NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TCATTTTCCAGGACTGAGACT 0.428000 66 27 0 0 1 0 0 ATP6C 0 broad.mit.edu 37 16 2577838 2577838 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:2577838C>T ENST00000569317.1 + 4 478 c.339C>T c.(337-339)ctC>ctT p.113_113insL AMDHD2_ENST00000302956.4_Silent_p.L160L|AMDHD2_ENST00000293971.6_Silent_p.L160L|AMDHD2_ENST00000413459.3_Silent_p.L160L|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron AGGCCCACCTCCGCTCCTTCG 0.697000 18 8 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15234840 15234840 + Missense_Mutation SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:15234840G>C ENST00000395930.1 - 3 249 c.63C>G c.(61-63)aaC>aaG p.N21K TEKT3_ENST00000338696.2_Missense_Mutation_p.N21K NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 21 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CTGGTAGAAAGTTGGTTGGTG 0.478000 19 55 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72152312 72152312 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:72152312G>A ENST00000555818.1 + 10 3686 c.3338G>A c.(3337-3339)cGa>cAa p.R1113Q SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R588Q|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1113Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1113Q NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1113 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AACATCCCTCGAAGCATCTCC 0.557000 23 29 0 0 1 0 0 KLHL10 317719 broad.mit.edu 37 17 40004308 40004308 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:40004308G>A ENST00000293303.4 + 5 1729 c.1576G>A c.(1576-1578)Gat>Aat p.D526N NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 526 cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) CGAGGTGGTGGATGACCTCTT 0.473000 45 72 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55785911 55785911 + Splice_Site SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:55785911C>T ENST00000272313.5 - 14 2526 c.2199_splice c.e14+1 p.K733_splice SMEK2_ENST00000407823.3_Splice_Site_p.K786_splice|SMEK2_ENST00000345102.5_Splice_Site_p.K818_splice NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 818 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTTCACCTACCTTGGTGGCTG 0.378000 79 139 0 0 1 0 0 PTGIR 5739 broad.mit.edu 37 19 47124837 47124837 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:47124837C>T ENST00000291294.2 - 3 994 c.861G>A c.(859-861)ctG>ctA p.L287L PTGIR_ENST00000597185.1_Silent_p.L16L|PTGIR_ENST00000594275.1_Silent_p.L44L|PTGIR_ENST00000598865.1_Silent_p.L75L NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 287 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) CCCAGGGGTCCAGGATGGGGT 0.632000 40 63 0 0 1 0 0 AFF4 27125 broad.mit.edu 37 5 132233971 132233971 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:132233971C>A ENST00000265343.5 - 10 1719 c.1340G>T c.(1339-1341)aGt>aTt p.S447I AFF4_ENST00000378595.3_Missense_Mutation_p.S447I NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 447 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCACTGGAACTACTTTCACT 0.527000 11 92 0.0135373 0.0135969 1 1 0 CCDC60 160777 broad.mit.edu 37 12 119961555 119961555 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:119961555G>A ENST00000327554.2 + 11 1626 c.1161G>A c.(1159-1161)agG>agA p.R387R RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 387 p.R387S(1) endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) ACACCATGAGGGCCAAGTTTT 0.498000 21 12 0 0 1 0 0 SNUPN 10073 broad.mit.edu 37 15 75902231 75902231 + Splice_Site SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:75902231C>G ENST00000371091.5 - 5 986 c.534_splice c.e5+1 p.R178_splice SNUPN_ENST00000564644.1_Splice_Site_p.R136_splice|SNUPN_ENST00000564675.1_Splice_Site_p.R136_splice|SNUPN_ENST00000308588.5_Splice_Site_p.R136_splice|SNUPN_ENST00000567134.1_Splice_Site_p.R136_splice O95149 SPN1_HUMAN snurportin 1 136 ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 AGCTACTCACCCTGGAGGCCA 0.532000 7 21 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639731 149639731 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:149639731C>T ENST00000370401.2 + 4 2196 c.1886C>T c.(1885-1887)gCc>gTc p.A629V MAMLD1_ENST00000262858.5_Missense_Mutation_p.A629V|MAMLD1_ENST00000426613.2_Missense_Mutation_p.A604V|MAMLD1_ENST00000432680.2_Missense_Mutation_p.A604V|MAMLD1_ENST00000455522.2_Missense_Mutation_p.A110V Q13495 MAMD1_HUMAN mastermind-like domain containing 1 629 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CGATCAGTGGCCTCAGATTCC 0.498000 53 26 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38925239 38925239 + Missense_Mutation SNP C C T rs138784431 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:38925239C>T ENST00000335552.4 - 6 1127 c.1079G>A c.(1078-1080)cGa>cAa p.R360Q NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 360 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) TGTTTCTGTTCGAATCTGTTG 0.383000 30 32 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186330938 186330938 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:186330938C>T ENST00000411641.2 + 1 227 c.8C>T c.(7-9)tCc>tTc p.S3F AHSG_ENST00000273784.5_Missense_Mutation_p.S3F P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 3 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) GCCATGAAGTCCCTCGTCCTG 0.607000 9 28 0 0 1 0 0 MED6 10001 broad.mit.edu 37 14 71059684 71059684 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:71059684G>A ENST00000256379.5 - 5 408 c.379C>T c.(379-381)Cag>Tag p.Q127* MED6_ENST00000430055.2_Nonsense_Mutation_p.Q134*|MED6_ENST00000554963.1_Nonsense_Mutation_p.Q127*|MED6_ENST00000440435.2_Nonsense_Mutation_p.Q127*|MED6_ENST00000556044.1_5'UTR NM_005466.2 NP_005457.2 O75586 MED6_HUMAN mediator complex subunit 6 127 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) AAAGCTGACTGAATACCATGC 0.353000 52 67 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745857 140745857 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140745857C>T ENST00000518069.1 + 1 1960 c.1960C>T c.(1960-1962)Ctg>Ttg p.L654L PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_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) CCAGCCCCCTCTGTCAGCCAC 0.647000 209 193 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41010175 41010175 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:41010175C>T ENST00000399564.4 - 31 3592 c.3142G>A c.(3142-3144)Gag>Aag p.E1048K MROH2B_ENST00000506092.2_Missense_Mutation_p.E603K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CCTAAGATCTCCAATAGCTAA 0.418000 18 56 0 0 1 0 0 RAB3A 5864 broad.mit.edu 37 19 18313451 18313451 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:18313451C>T ENST00000222256.4 - 2 278 c.100G>A c.(100-102)Ggc>Agc p.G34S RAB3A_ENST00000464076.2_Intron NM_002866.4 NP_002857.1 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 34 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 GACGTCTTGCCCACGCTGCTG 0.552000 OREG0025360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 74 167 0 0 1 0 0 SOCS3 9021 broad.mit.edu 37 17 76354748 76354748 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:76354748G>A ENST00000330871.2 - 2 844 c.429C>T c.(427-429)ccC>ccT p.P143P NM_003955.3 NP_003946.3 O14543 SOCS3_HUMAN suppressor of cytokine signaling 3 143 anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) CCTCGGAGGAGGGTTCAGTAG 0.677000 22 47 0 0 1 0 0 ZNF557 79230 broad.mit.edu 37 19 7081464 7081464 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:7081464C>T ENST00000414706.1 + 6 814 c.341C>T c.(340-342)cCa>cTa p.P114L ZNF557_ENST00000252840.6_Missense_Mutation_p.P114L|ZNF557_ENST00000439035.2_Missense_Mutation_p.P107L NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) GGTACCTGTCCAGGTGAGCAC 0.458000 11 17 0 0 1 0 0 PRUNE 58497 broad.mit.edu 37 1 150998120 150998120 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:150998120C>T ENST00000271620.3 + 5 806 c.650C>T c.(649-651)tCc>tTc p.S217F PRUNE_ENST00000271619.8_Missense_Mutation_p.S58F|PRUNE_ENST00000368937.1_Missense_Mutation_p.S35F|PRUNE_ENST00000368934.1_Missense_Mutation_p.S35F|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368936.1_Missense_Mutation_p.S35F|PRUNE_ENST00000368935.1_Intron NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 217 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ATATTTGATTCCCTACAAAAG 0.393000 62 104 0 0 1 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242741286 242741286 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:242741286C>T ENST00000192314.6 + 3 341 c.210C>T c.(208-210)atC>atT p.I70I AC114730.5_ENST00000437438.1_RNA NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 70 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833) TGCTCAACATCCTCTACCGCT 0.672000 41 19 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147844692 147844692 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:147844692G>A ENST00000361727.3 + 17 3180 c.2664G>A c.(2662-2664)gaG>gaA p.E888E CNTNAP2_ENST00000538075.1_5'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 888 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCACTGCAGAGAGGAATGTCA 0.572000 HNSCC(39;0.1) 52 77 0 0 1 0 0 LINC00207 388910 broad.mit.edu 37 22 44965319 44965319 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:44965319G>A ENST00000605505.1 + 0 88 NR_028409.1 lung(3) 3 gtgtgacatgggagtaagttt 0.443000 30 54 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20799775 20799775 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:20799775G>A ENST00000359062.3 + 12 2496 c.2456G>A c.(2455-2457)gGg>gAg p.G819E PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 819 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGTCTGTCTGGGAATATCCCT 0.433000 66 107 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100649297 100649297 + Missense_Mutation SNP G G A rs142108260 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:100649297G>A ENST00000268070.4 - 14 2018 c.1913C>T c.(1912-1914)tCg>tTg p.S638L NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 638 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CCCGAGGGGCGAGCAGTAGAG 0.627000 27 9 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29256359 29256359 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:29256359C>A ENST00000379558.4 + 16 2506 c.2155C>A c.(2155-2157)Ccc>Acc p.P719T FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.P664T NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 719 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGATGAACTTCCCTCTGCCAA 0.517000 6 19 0.00307968 0.00309596 1 1 0 ANXA10 11199 broad.mit.edu 37 4 169060656 169060656 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:169060656G>A ENST00000359299.3 + 3 306 c.120G>A c.(118-120)ctG>ctA p.L40L NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 40 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) AAGACATGCTGATCAACATTC 0.403000 14 38 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175795 140175795 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140175795G>A ENST00000526136.1 + 1 1246 c.1246G>A c.(1246-1248)Gag>Aag p.E416K PCDHA2_ENST00000520672.2_Missense_Mutation_p.E416K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E416K NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGACCGCGAGAGCGTGTC 0.627000 88 200 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236716961 236716961 + Missense_Mutation SNP A A C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:236716961A>C ENST00000366582.3 - 43 6271 c.6157T>G c.(6157-6159)Tcg>Gcg p.S2053A HEATR1_ENST00000366581.2_Missense_Mutation_p.S1972A NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 2053 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATGGCCACCGAAAACTGTGCG 0.498000 32 58 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70601712 70601712 + Missense_Mutation SNP C C T rs139965533 byFrequency TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:70601712C>T ENST00000449580.1 + 9 1528 c.1477C>T c.(1477-1479)Cgg>Tgg p.R493W TAF1_ENST00000276072.3_Missense_Mutation_p.R514W|TAF1_ENST00000373790.4_Missense_Mutation_p.R493W|TAF1_ENST00000423759.1_Missense_Mutation_p.R514W P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 493 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GGCCATGCCCCGGCTGTTGGA 0.458000 40 17 0 0 1 0 0 IGHV5-51 28388 broad.mit.edu 37 14 107034877 107034877 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:107034877C>T ENST00000390626.2 - 0 261 ATAGATGATCCCCATCCACTC 0.567000 23 34 0 0 1 0 0 SFPQ 6421 broad.mit.edu 37 1 35656577 35656577 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:35656577T>A ENST00000357214.5 - 3 1135 c.1037A>T c.(1036-1038)gAa>gTa p.E346V NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 346 RRM 1. alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TTTGGCAATTTCAGCCAAAGC 0.438000 T TFE3 papillary renal cell 16 5 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723382 49723382 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:49723382G>A ENST00000449682.2 - 10 1522 c.1161C>T c.(1159-1161)ggC>ggT p.G387G MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 373 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTCCCCTGCGCCGTGGTAGC 0.706000 5 14 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135660 156135660 + Missense_Mutation SNP C C T rs151197683 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:156135660C>T ENST00000329476.3 + 2 1058 c.569C>T c.(568-570)tCg>tTg p.S190L NPY2R_ENST00000506608.1_Missense_Mutation_p.S190L NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 190 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CGGGAGTATTCGCTGATTGAG 0.527000 47 37 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46901894 46901894 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:46901894G>A ENST00000359759.4 + 13 2895 c.2874G>A c.(2872-2874)ccG>ccA p.P958P COL18A1_ENST00000355480.5_Silent_p.P723P|COL18A1_ENST00000400337.2_Silent_p.P543P P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 958 Triple-helical region 3 (COL3). 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) CAGGCCCTCCGGGAAGAGAGG 0.602000 27 25 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155148665 155148665 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:155148665C>T ENST00000392451.2 + 3 710 c.627C>T c.(625-627)gcC>gcT p.A209A TRIM46_ENST00000543729.1_Silent_p.A216A|TRIM46_ENST00000368382.1_Silent_p.A186A|TRIM46_ENST00000334634.4_Silent_p.A209A|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.A83A|TRIM46_ENST00000368383.3_Silent_p.A209A|TRIM46_ENST00000368385.4_Silent_p.A209A Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 209 intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCCAGAAGGCCCAGCATGAGC 0.657000 37 58 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73377105 73377105 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:73377105C>T ENST00000224721.6 + 10 1109 c.1104C>T c.(1102-1104)gtC>gtT p.V368V CDH23_ENST00000461841.3_Silent_p.V408V|CDH23_ENST00000398809.4_Silent_p.V363V|CDH23_ENST00000299366.7_Silent_p.V408V|CDH23_ENST00000398842.3_Silent_p.V363V NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 363 Cadherin 4. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGGCACAGGTCGGCTTTGCCC 0.562000 25 31 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195475813 195475813 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:195475813C>T ENST00000463781.3 - 24 16453 c.15994G>A c.(15994-15996)Gga>Aga p.G5332R MUC4_ENST00000349607.4_Missense_Mutation_p.G1045R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5280R|MUC4_ENST00000346145.4_Missense_Mutation_p.G1096R NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 2089 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) CACTGGCCTCCATGGTCACAG 0.637000 14 53 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325355 152325355 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:152325355C>T ENST00000388718.5 - 3 4979 c.4907G>A c.(4906-4908)gGa>gAa p.G1636E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1636 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGGACTGTCCATGACCAGA 0.502000 171 244 0 0 1 0 0 LGALS13 29124 broad.mit.edu 37 19 40093217 40093217 + Silent SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:40093217T>A ENST00000221797.4 + 1 54 c.9T>A c.(7-9)tcT>tcA p.S3S NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 3 lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CAATGTCTTCTTTACCCGTGA 0.403000 37 53 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22951289 22951289 + RNA SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:22951289C>G ENST00000514473.2 - 0 107 TRAJ54_ENST00000390484.1_RNA TTCAGGGAGCCCAGAAGCTGG 0.512000 16 25 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5777438 5777438 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:5777438C>A ENST00000328090.5 + 12 2001 c.1376C>A c.(1375-1377)tCt>tAt p.S459Y RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 459 GTGAAGAAATCTCCACAAAAA 0.383000 68 109 1.35869e-18 1.39663e-18 1 1 0 P2RX3 5024 broad.mit.edu 37 11 57118326 57118326 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:57118326G>A ENST00000263314.2 + 8 830 c.796G>A c.(796-798)Gac>Aac p.D266N NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 266 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity p.D266N(1) endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 CACCCGGCTCGACAGCGTTTC 0.567000 32 38 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221779 59221779 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:59221779G>A ENST00000262717.4 + 12 2655 c.2257G>A c.(2257-2259)Gac>Aac p.D753N CDH20_ENST00000536675.2_Missense_Mutation_p.D753N|CDH20_ENST00000538374.1_Missense_Mutation_p.D753N Q9HBT6 CAD20_HUMAN cadherin 20, type 2 753 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GTTCGAGGGGGACGGCTCTGT 0.652000 7 5 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202568427 202568427 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:202568427C>T ENST00000367267.1 - 8 1164 c.972G>A c.(970-972)aaG>aaA p.K324K SYT2_ENST00000367268.4_Silent_p.K324K NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 324 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) CGGTTGTCTTCTTCTTCTTGA 0.547000 56 136 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24835206 24835206 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:24835206G>A ENST00000376454.3 + 21 5815 c.5785G>A c.(5785-5787)Gga>Aga p.G1929R KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1335R|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1360R|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G1250R NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 1929 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGCACAGAATGGAAGTTCAAG 0.483000 40 40 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35832695 35832695 + Missense_Mutation SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:35832695A>G ENST00000085219.5 + 9 1928 c.1862A>G c.(1861-1863)aAc>aGc p.N621S CD22_ENST00000536635.2_Missense_Mutation_p.N533S|CD22_ENST00000341773.6_Missense_Mutation_p.N444S|CD22_ENST00000544992.2_Missense_Mutation_p.N621S|CD22_ENST00000419549.2_Missense_Mutation_p.N449S|CD22_ENST00000594250.1_Missense_Mutation_p.N444S|CD22_ENST00000270311.6_Missense_Mutation_p.N501S NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 621 Ig-like C2-type 6. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AGCGACGCCAACCCTCCCGTC 0.607000 22 53 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52967407 52967407 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:52967407C>T ENST00000549343.1 - 1 193 c.155G>A c.(154-156)aGc>aAc p.S52N KRT74_ENST00000305620.2_Missense_Mutation_p.S52N Q7RTS7 K2C74_HUMAN keratin 74 52 Gly-rich.|Head. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CCCTCCAAGGCTATAGAGGCT 0.622000 38 42 0 0 1 0 0 SNUPN 10073 broad.mit.edu 37 15 75902232 75902232 + Splice_Site SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:75902232C>T ENST00000371091.5 - 5 985 c.534_splice c.e5+1 p.R178_splice SNUPN_ENST00000564644.1_Splice_Site_p.R136_splice|SNUPN_ENST00000564675.1_Splice_Site_p.R136_splice|SNUPN_ENST00000308588.5_Splice_Site_p.R136_splice|SNUPN_ENST00000567134.1_Splice_Site_p.R136_splice O95149 SPN1_HUMAN snurportin 1 136 ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 GCTACTCACCCTGGAGGCCAC 0.532000 8 21 0 0 1 0 0 MOGAT1 116255 broad.mit.edu 37 2 223574553 223574553 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:223574553G>A ENST00000446656.3 + 6 952 c.952G>A c.(952-954)Gag>Aag p.E318K NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 318 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) GAAATTGTTTGAGGAACACAA 0.398000 47 68 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62021198 62021198 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:62021198C>T ENST00000435607.1 - 22 4001 c.3925G>A c.(3925-3927)Gac>Aac p.D1309N SCN4A_ENST00000578147.1_Missense_Mutation_p.D1309N NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1309 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) ATAAAGATGTCTTTCCCCCCT 0.542000 10 29 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36780084 36780084 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:36780084C>T ENST00000416516.2 - 2 557 c.67G>A c.(67-69)Gcc>Acc p.A23T NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 23 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 AGGGCCCGGGCTTTGTTGGGG 0.557000 53 122 0 0 1 0 0 SPI1 6688 broad.mit.edu 37 11 47381520 47381520 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:47381520C>T ENST00000378538.3 - 3 436 c.214G>A c.(214-216)Gag>Aag p.E72K SPI1_ENST00000227163.4_Missense_Mutation_p.E73K|SPI1_ENST00000533968.1_Missense_Mutation_p.E72K|SPI1_ENST00000533030.1_Intron NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 72 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) CTCTGGAGCTCCGTGAAGTTG 0.632000 21 22 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69692148 69692148 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:69692148G>A ENST00000265403.7 + 4 1047 c.1020G>A c.(1018-1020)ggG>ggA p.G340G UGT2B10_ENST00000458688.2_Silent_p.G256G NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 340 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.G340G(2) endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GATTTGATGGGAATAAACCAG 0.363000 24 47 0 0 1 0 0 LMCD1 29995 broad.mit.edu 37 3 8590329 8590329 + Missense_Mutation SNP C C T rs145385804 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:8590329C>T ENST00000157600.3 + 4 695 c.463C>T c.(463-465)Cgc>Tgc p.R155C LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.R155C|LMCD1_ENST00000397386.3_Missense_Mutation_p.R43C|LMCD1_ENST00000454244.1_Missense_Mutation_p.R82C NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 155 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) TTACCGCCGCCGCCAGCTCAT 0.562000 54 128 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169351662 169351662 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:169351662C>T ENST00000511577.1 - 13 1891 c.1644G>A c.(1642-1644)gaG>gaA p.E548E DDX60L_ENST00000505890.1_Silent_p.E548E|DDX60L_ENST00000260184.7_Silent_p.E548E Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 548 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CACTGGAATCCTCCTTTGGCC 0.348000 8 24 0 0 1 0 0 ELF5 2001 broad.mit.edu 37 11 34502425 34502425 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:34502425C>T ENST00000312319.2 - 6 824 c.595G>A c.(595-597)Gaa>Aaa p.E199K ELF5_ENST00000257832.2_Missense_Mutation_p.E189K|ELF5_ENST00000429939.2_Missense_Mutation_p.E94K NM_001243081.1|NM_198381.1 NP_001230010.1|NP_938195.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) 199 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) ATTCCTTGTTCCCTATCTTCC 0.428000 54 86 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23159421 23159421 + Missense_Mutation SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:23159421A>G ENST00000594710.1 - 4 863 c.718T>C c.(718-720)Ttc>Ctc p.F240L NM_001267716.1 NP_001254645.1 zinc finger protein 728 AGGATTGAGAACTTACTAAAG 0.408000 20 28 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186330939 186330939 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:186330939C>T ENST00000411641.2 + 1 228 c.9C>T c.(7-9)tcC>tcT p.S3S AHSG_ENST00000273784.5_Silent_p.S3S P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 3 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) CCATGAAGTCCCTCGTCCTGC 0.602000 9 27 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4443223 4443223 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:4443223G>A ENST00000254718.4 - 26 3780 c.3474C>T c.(3472-3474)ccC>ccT p.P1158P MYBBP1A_ENST00000381556.2_Silent_p.P1158P Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1158 Required for nuclear and nucleolar localization (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 GGGTGGCACTGGGGATCTCCT 0.582000 77 133 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65299917 65299917 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:65299917G>T ENST00000377990.2 + 3 1890 c.1687G>T c.(1687-1689)Gtc>Ttc p.V563F RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.V563F|CEP68_ENST00000537589.1_Missense_Mutation_p.V175F|CEP68_ENST00000497039.1_Intron|CEP68_ENST00000260569.4_Intron NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 563 centrosome organization centrosome p.V563I(1) breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 GCGCTCCTTCGTCCGTGCCCA 0.642000 80 88 9.61239e-26 9.89868e-26 1 1 0 TROAP 10024 broad.mit.edu 37 12 49717510 49717510 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:49717510T>A ENST00000551245.1 + 2 230 c.119T>A c.(118-120)gTg>gAg p.V40E TROAP_ENST00000548311.1_Missense_Mutation_p.V40E|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000550709.1_Missense_Mutation_p.V40E|TROAP_ENST00000257909.3_Missense_Mutation_p.V40E|TROAP_ENST00000549534.1_Missense_Mutation_p.V40E|TROAP_ENST00000549275.1_Missense_Mutation_p.V40E|TROAP_ENST00000380327.5_Missense_Mutation_p.V40E Q12815 TROAP_HUMAN trophinin associated protein 40 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 TCGTGCGCCGTGGACCAGGAG 0.547000 64 144 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61597289 61597289 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:61597289G>A ENST00000238508.3 + 6 560 c.501G>A c.(499-501)caG>caA p.Q167Q 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) GTAAAATCCAGAATCTCCTGC 0.378000 22 9 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60889663 60889663 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:60889663T>A ENST00000252999.3 - 61 8381 c.8315A>T c.(8314-8316)gAg>gTg p.E2772V NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2772 Laminin G-like 1. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCCCAGGCTCAGGCTCTGG 0.647000 38 69 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95057149 95057149 + Silent SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:95057149C>A ENST00000329597.7 + 5 1164 c.954C>A c.(952-954)ctC>ctA p.L318L SERPINA5_ENST00000554276.1_Silent_p.L318L|SERPINA5_ENST00000553780.1_Silent_p.L318L|SERPINA5_ENST00000554866.1_Silent_p.L318L NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 318 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) AGAAAGTCCTCCCCAGTCTGG 0.517000 26 32 3.01185e-09 3.06012e-09 1 1 0 NELFB 25920 broad.mit.edu 37 9 140151503 140151503 + Silent SNP C C T rs144287982 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:140151503C>T ENST00000343053.4 + 4 931 c.594C>T c.(592-594)ggC>ggT p.G198G NM_015456.3 NP_056271.2 negative elongation factor complex member B GGCGCCAGGGCGAGGTGAGGG 0.617000 19 27 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62784970 62784970 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:62784970C>T ENST00000280377.5 + 16 2052 c.1994C>T c.(1993-1995)tCc>tTc p.S665F USP15_ENST00000393654.3_Missense_Mutation_p.S640F|USP15_ENST00000353364.3_Missense_Mutation_p.S636F NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 665 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GATGATGAATCCAGCCAGGAT 0.323000 32 41 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108487281 108487281 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:108487281C>T ENST00000408999.3 + 20 2898 c.2821C>T c.(2821-2823)Ctt>Ttt p.L941F RGPD4_ENST00000354986.4_Missense_Mutation_p.L941F NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 941 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TGAAAAGCCTCTTGAAAATGA 0.413000 124 34 0 0 1 0 0 ETV3 2117 broad.mit.edu 37 1 157105388 157105388 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:157105388G>A ENST00000368192.4 - 3 223 c.159C>T c.(157-159)gtC>gtT p.V53V ETV3_ENST00000326786.4_Silent_p.V53V|ETV3_ENST00000460850.1_5'UTR NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 53 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) GCCAGGCGATGACATGGCGGA 0.572000 37 49 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450269 105450269 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:105450269C>T ENST00000337685.2 + 5 1629 c.844C>T c.(844-846)Cct>Tct p.P282S MUM1L1_ENST00000357175.2_Missense_Mutation_p.P282S|MUM1L1_ENST00000372552.1_Missense_Mutation_p.P282S NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 282 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TATTGAGGATCCTGGAGAGGG 0.502000 11 7 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105167132 105167132 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:105167132G>A ENST00000428173.2 + 18 2939 c.2636G>A c.(2635-2637)gGa>gAa p.G879E NRK_ENST00000243300.9_Missense_Mutation_p.G878E Q7Z2Y5 NRK_HUMAN Nik related kinase 878 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 TTTAAAGTAGGAAAAATATCA 0.403000 HNSCC(51;0.14) 103 30 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1582486 1582486 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:1582486G>A ENST00000572621.1 - 10 1689 c.1424C>T c.(1423-1425)tCc>tTc p.S475F PRPF8_ENST00000304992.6_Missense_Mutation_p.S475F Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 475 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGCTTTGAAGGAGCGGAACAA 0.532000 46 95 0 0 1 0 0 RPL10L 140801 broad.mit.edu 37 14 47120739 47120739 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:47120739G>A ENST00000298283.3 - 1 289 c.201C>T c.(199-201)gcC>gcT p.A67A NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 67 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 AAATACGGGCGGCCTCCAGGG 0.512000 33 53 0 0 1 0 0 NR5A1 2516 broad.mit.edu 37 9 127255311 127255311 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:127255311C>T ENST00000373588.4 - 5 1184 c.988G>A c.(988-990)Gag>Aag p.E330K NM_004959.4 NP_004950.2 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 330 Important for dimerization.|Ligand-binding. cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 CTGGTCACCTCCTGCCCGGTG 0.701000 9 7 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30309876 30309876 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:30309876C>T ENST00000376659.5 + 8 1905 c.1307C>T c.(1306-1308)gCc>gTc p.A436V TRIM39_ENST00000540416.1_Missense_Mutation_p.A436V|TRIM39_ENST00000396551.3_Missense_Mutation_p.A436V|TRIM39_ENST00000396548.1_Missense_Mutation_p.A436V|TRIM39_ENST00000376656.4_Missense_Mutation_p.A466V|TRIM39_ENST00000396547.1_Missense_Mutation_p.A466V|TRIM39-RPP21_ENST00000513556.1_Intron NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 GACTATGAGGCCGGCACACTG 0.483000 27 43 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141619581 141619581 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:141619581G>A ENST00000548136.1 + 1 965 c.906G>A c.(904-906)cgG>cgA p.R302R MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) AGGCCCTTCGGGATGGGGTGA 0.418000 55 59 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35805956 35805956 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:35805956T>C ENST00000342694.2 + 14 2432 c.2177T>C c.(2176-2178)tTg>tCg p.L726S NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 726 Protein kinase. 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) CCTTTCTACTTGGAGGGCCTG 0.532000 40 59 0 0 1 0 0 NPRL3 8131 broad.mit.edu 37 16 148260 148260 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:148260G>A ENST00000399953.3 - 8 1209 c.807C>T c.(805-807)tcC>tcT p.S269S NPRL3_ENST00000399951.3_Silent_p.S90S|NPRL3_ENST00000405960.3_5'UTR NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 269 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 CACCCAGCAAGGACTTCTCAT 0.567000 23 9 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121748159 121748159 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:121748159C>T ENST00000452319.1 + 14 4729 c.4669C>T c.(4669-4671)Ccc>Tcc p.P1557S GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1557S P10070 GLI2_HUMAN GLI family zinc finger 2 1557 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) GCCCTCCATCCCCGCAGGCAT 0.622000 91 116 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133622784 133622784 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:133622784G>A ENST00000253861.4 + 14 2197 c.2168G>A c.(2167-2169)cGa>cAa p.R723Q EXOC4_ENST00000539845.1_Missense_Mutation_p.R622Q|EXOC4_ENST00000545148.1_Missense_Mutation_p.R333Q|EXOC4_ENST00000541309.1_Missense_Mutation_p.R11Q NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 723 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) TTGGCAAGTCGAACAAAGTCA 0.453000 38 53 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941741 22941741 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:22941741G>A ENST00000397104.3 - 5 696 c.697C>T c.(697-699)Cat>Tat p.H233Y ZNF99_ENST00000596209.1_Missense_Mutation_p.H324Y 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) GCTGAGAAATGGTTAAAAGCT 0.393000 30 34 0 0 1 0 0 FBXO38 81545 broad.mit.edu 37 5 147821638 147821638 + Missense_Mutation SNP T T G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:147821638T>G ENST00000340253.5 + 22 3663 c.3495T>G c.(3493-3495)ttT>ttG p.F1165L FBXO38_ENST00000394370.3_Missense_Mutation_p.F1090L|FBXO38_ENST00000513826.1_Missense_Mutation_p.F920L|FBXO38_ENST00000296701.6_Missense_Mutation_p.F920L Q6PIJ6 FBX38_HUMAN F-box protein 38 1165 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGGTGTATTTCAGCGAGTAG 0.418000 64 67 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092787 147092787 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:147092787C>T ENST00000361727.3 + 10 2101 c.1585C>T c.(1585-1587)Caa>Taa p.Q529* NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 529 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGTGGACGATCAACTTGTAAA 0.428000 HNSCC(39;0.1) 88 125 0 0 1 0 0 PON2 5445 broad.mit.edu 37 7 95039346 95039346 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:95039346G>A ENST00000536183.1 - 6 808 c.625C>T c.(625-627)Cct>Tct p.P209S PON2_ENST00000433091.2_Missense_Mutation_p.P176S|PON2_ENST00000222572.3_Missense_Mutation_p.P188S|PON2_ENST00000483292.1_5'UTR NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 188 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) TTTAAGAAAGGATCAGAGAAG 0.373000 37 54 0 0 1 0 0 IL1A 3552 broad.mit.edu 37 2 113540313 113540313 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:113540313C>T ENST00000263339.3 - 3 231 c.76G>A c.(76-78)Gat>Aat p.D26N NM_000575.3 NP_000566.3 P01583 IL1A_HUMAN interleukin 1, alpha 26 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding breast(2)|large_intestine(1)|lung(9) 12 GACAGATGATCAATGGAGGAA 0.368000 26 46 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93796821 93796821 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:93796821C>T ENST00000315765.9 + 3 571 c.563C>T c.(562-564)tCg>tTg p.S188L NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 188 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GTGTACCATTCGCACATCGAC 0.542000 57 69 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8190815 8190815 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:8190815C>T ENST00000600128.1 - 22 3106 c.2692G>A c.(2692-2694)Gag>Aag p.E898K FBN3_ENST00000270509.2_Missense_Mutation_p.E898K|FBN3_ENST00000601739.1_Missense_Mutation_p.E898K Q75N90 FBN3_HUMAN fibrillin 3 898 EGF-like 11; 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 ATCAGGCCCTCTGGACACTCA 0.622000 44 55 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10352264 10352264 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:10352264C>T ENST00000255381.2 - 31 4392 c.4282G>A c.(4282-4284)Gaa>Aaa p.E1428K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1428 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCCTCTACTTCATTCTGTAGC 0.453000 29 40 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56370494 56370494 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:56370494C>T ENST00000301295.6 + 3 2157 c.1735C>T c.(1735-1737)Cat>Tat p.H579Y NLRP4_ENST00000587891.1_Missense_Mutation_p.H504Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.H579Y NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 579 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) AGCTAACTTTCATATTATTGA 0.428000 32 44 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98254427 98254427 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:98254427C>T ENST00000265634.3 + 3 1002 c.837C>T c.(835-837)atC>atT p.I279I NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 279 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CCAACGAGATCGTGCTGATCG 0.637000 54 70 0 0 1 0 0 SSBP2 23635 broad.mit.edu 37 5 80770324 80770324 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:80770324G>A ENST00000320672.4 - 7 700 c.490C>T c.(490-492)Cga>Tga p.R164* SSBP2_ENST00000509053.1_Nonsense_Mutation_p.R134*|SSBP2_ENST00000505980.1_Nonsense_Mutation_p.R144*|SSBP2_ENST00000515395.1_Nonsense_Mutation_p.R134*|SSBP2_ENST00000514493.1_Nonsense_Mutation_p.R134* NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 164 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) CCTTGTTGTCGAGTTGGATCC 0.348000 22 31 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929878 121929878 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:121929878G>A ENST00000265922.3 - 8 2231 c.1770C>T c.(1768-1770)atC>atT p.I590I DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 590 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TTTGGAGACGGATCTTCTCCC 0.527000 57 98 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584508 1584508 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:1584508C>T ENST00000381297.4 - 2 1154 c.944G>A c.(943-945)aGa>aAa p.R315K NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 315 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) CAGGGTGTCTCTGGGCACCCG 0.647000 T CRLF2 """B-ALL, Downs associated ALL""" 65 35 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108388966 108388966 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:108388966G>A ENST00000265843.4 - 5 737 c.627C>T c.(625-627)ttC>ttT p.F209F EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Silent_p.F21F|EXPH5_ENST00000525344.1_Silent_p.F202F|EXPH5_ENST00000428840.1_Silent_p.F133F NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 209 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ACTTACCTTGGAAAAACTCAT 0.403000 31 47 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11319449 11319449 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:11319449G>A ENST00000294618.7 - 39 5012 c.5001C>T c.(4999-5001)ccC>ccT p.P1667P DOCK6_ENST00000319867.7_Silent_p.P1006P|CTC-510F12.2_ENST00000588634.1_RNA NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1667 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.P1667P(1) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CCTCCTCGTCGGGCGACAGGA 0.627000 35 50 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151775135 151775135 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:151775135G>A ENST00000368820.3 - 2 983 c.46C>T c.(46-48)Ccg>Tcg p.P16S NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 16 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AAAAGGAGCGGGGGCCATGGG 0.607000 5 8 0 0 1 0 0 RPP25L 138716 broad.mit.edu 37 9 34610832 34610832 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:34610832G>A ENST00000297613.4 - 2 742 c.462C>T c.(460-462)tcC>tcT p.S154S RPP25L_ENST00000378959.4_Silent_p.S154S NM_148179.2 NP_680545.1 Q8N5L8 CI023_HUMAN ribonuclease P/MRP 25kDa subunit-like 154 nucleic acid binding CCCTTCTTCGGGAACGAGGGC 0.627000 65 71 0 0 1 0 0 FBXL14 144699 broad.mit.edu 37 12 1702393 1702393 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:1702393G>A ENST00000339235.3 - 1 938 c.840C>T c.(838-840)cgC>cgT p.R280R WNT5B_ENST00000537031.1_Intron NM_152441.2 NP_689654.1 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 280 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) GCCCCGAGAGGCGCAGGCTGC 0.607000 30 33 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534729 55534729 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:55534729G>A ENST00000220676.1 + 3 816 c.668G>A c.(667-669)gGa>gAa p.G223E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 223 Doublecortin 2. 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 p.G223V(1) 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) GTGGCGGCAGGAAGGGAGCCA 0.478000 19 35 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8399673 8399673 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:8399673C>T ENST00000471889.1 + 8 2280 c.1895C>T c.(1894-1896)tCg>tTg p.S632L SLC45A1_ENST00000377479.2_Missense_Mutation_p.S666L|SLC45A1_ENST00000289877.8_Missense_Mutation_p.S632L Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 632 carbohydrate transport integral to membrane symporter activity 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) GTGGTCCTGTCGCTCTGCATA 0.557000 101 40 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71227756 71227756 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:71227756G>A ENST00000554752.2 - 3 963 c.964C>T c.(964-966)Cgg>Tgg p.R322W MAP3K9_ENST00000554146.1_Missense_Mutation_p.R59W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R322W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R16W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R322W P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 322 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) ATGGAGGCCCGGATGACTTCG 0.547000 51 73 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132262764 132262764 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:132262764G>T ENST00000261674.4 + 14 2438 c.2297G>T c.(2296-2298)cGa>cTa p.R766L SFSWAP_ENST00000541286.1_Missense_Mutation_p.R766L NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 766 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AAAAGATCTCGAACAAGATCA 0.428000 20 8 3.99206e-14 4.08881e-14 1 1 0 OR5M11 219487 broad.mit.edu 37 11 56310120 56310120 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:56310120T>C ENST00000528616.2 - 1 637 c.614A>G c.(613-615)aAc>aGc p.N205S NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 GCTGGAGAGGTTGAAGCCAGC 0.498000 32 35 0 0 1 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34035785 34035785 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:34035785G>A ENST00000382065.3 - 2 1088 c.382C>T c.(382-384)Ccc>Tcc p.P128S C1QTNF3_ENST00000231338.7_Missense_Mutation_p.P55S NM_181435.5 NP_852100.3 Q9BXJ4 C1QT3_HUMAN C1q and tumor necrosis factor related protein 3 55 C1q. collagen breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) GGCCCAGGGGGGCCTTGGTAG 0.522000 13 69 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18347737 18347737 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:18347737G>A ENST00000441493.2 - 19 2885 c.2533C>T c.(2533-2535)Ctg>Ttg p.L845L MICAL3_ENST00000585038.1_Silent_p.L969L|MICAL3_ENST00000444520.1_Silent_p.L845L|MICAL3_ENST00000383094.3_Silent_p.L845L|MICAL3_ENST00000429452.1_Silent_p.L969L|MICAL3_ENST00000400561.2_Silent_p.L845L|MICAL3_ENST00000207726.7_Silent_p.L873L|MICAL3_ENST00000414725.2_Silent_p.L873L NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 845 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CCATCCTGCAGGGGTCCTTTG 0.542000 46 74 0 0 1 0 0 DISC1 27185 broad.mit.edu 37 1 231906813 231906813 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:231906813G>A ENST00000439617.2 + 6 1684 c.1631G>A c.(1630-1632)aGg>aAg p.R544K DISC1_ENST00000535983.1_Missense_Mutation_p.R544K|DISC1_ENST00000366636.4_Missense_Mutation_p.R544K|DISC1_ENST00000539444.1_Missense_Mutation_p.R544K|DISC1_ENST00000602873.1_Missense_Mutation_p.R194K|DISC1_ENST00000602281.1_Missense_Mutation_p.R544K|DISC1_ENST00000537876.1_Missense_Mutation_p.R544K|DISC1_ENST00000366637.3_5'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.R544K NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 544 Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GAAACCATAAGGAGGTACTGC 0.517000 5 10 0 0 1 0 0 PPP1R14D 54866 broad.mit.edu 37 15 41120748 41120748 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:41120748C>A ENST00000299174.5 - 1 159 c.92G>T c.(91-93)aGg>aTg p.R31M PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R31M NM_017726.7 NP_060196.1 Q9NXH3 PP14D_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14D 31 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity breast(1)|large_intestine(2)|lung(2)|skin(1) 6 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GGATGATGTCCTTCTCCTCCC 0.577000 36 22 2.47316e-13 2.52856e-13 1 1 0 TTN 7273 broad.mit.edu 37 2 179408030 179408030 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179408030C>T ENST00000589042.1 - 347 96894 c.96670G>A c.(96670-96672)Gaa>Aaa p.E32224K TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E30583K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23351K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23284K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29656K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23159K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30583 Protein kinase. 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) AGTGGTTTTTCCCAGGCAAGG 0.493000 54 93 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40464385 40464385 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:40464385G>A ENST00000301825.3 + 8 994 c.876G>A c.(874-876)cgG>cgA p.R292R ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.R292R|ENTPD3_ENST00000445129.1_Silent_p.R292R|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 292 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GTTACCCTCGGGATTATAGCA 0.438000 25 42 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051909 79051909 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:79051909C>T ENST00000388820.4 - 24 5125 c.4915G>A c.(4915-4917)Gac>Aac p.D1639N NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1639 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GACAGGCGGTCCCGCTCACAG 0.672000 15 7 0 0 1 0 0 HRASLS5 117245 broad.mit.edu 37 11 63233660 63233660 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:63233660G>A ENST00000540857.1 - 5 771 c.639C>T c.(637-639)atC>atT p.I213I HRASLS5_ENST00000539221.1_Silent_p.I223I|HRASLS5_ENST00000301790.4_Silent_p.I223I NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 223 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TGTACTGCACGATCTTGTTGA 0.517000 37 63 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038823 11038823 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:11038823G>A ENST00000470054.1 - 0 1380 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) GTAAGTTGTTGGCATGATGTT 0.458000 49 220 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512475 248512475 + Silent SNP C C T rs150366522 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:248512475C>T ENST00000317861.1 + 1 399 c.399C>T c.(397-399)atC>atT p.I133I NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 133 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 ACCCTGTGATCGTGAACTCTC 0.507000 33 28 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123624625 123624625 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:123624625G>A ENST00000327930.2 - 1 628 c.602C>T c.(601-603)aCc>aTc p.T201I NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 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;0.0279) CACAAGGATGGTTGCTATGAC 0.453000 66 80 0 0 1 0 0 MATN3 4148 broad.mit.edu 37 2 20205860 20205860 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:20205860G>A ENST00000407540.3 - 2 497 c.435C>T c.(433-435)tcC>tcT p.S145S MATN3_ENST00000421259.2_Silent_p.S145S NM_002381.4 NP_002372.1 O15232 MATN3_HUMAN matrilin 3 145 VWFA. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGCTTCAGGGACTGCTTAT 0.572000 23 33 0 0 1 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85147237 85147237 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:85147237G>A ENST00000448803.2 + 2 371 c.79G>A c.(79-81)Gag>Aag p.E27K ZSCAN2_ENST00000334141.3_Missense_Mutation_p.E27K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E27K|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E27K|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E27K|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E27K|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.E27K|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E27K NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 27 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) AGATAGACAGGAGGAGGAGGT 0.587000 59 6 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9520890 9520890 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:9520890C>T ENST00000281419.3 + 20 2309 c.1969C>T c.(1969-1971)Ccg>Tcg p.P657S ASAP2_ENST00000315273.4_Missense_Mutation_p.P657S NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 657 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 AGGAGAGACTCCGCTGGACAT 0.557000 73 102 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51749250 51749250 + Missense_Mutation SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:51749250G>C ENST00000395052.3 + 4 1695 c.1461G>C c.(1459-1461)tgG>tgC p.W487C GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 487 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TCATCCCATGGGCCTCACCCT 0.637000 10 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179621414 179621414 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179621414C>T ENST00000589042.1 - 46 11013 c.10789G>A c.(10789-10791)Gaa>Aaa p.E3597K TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3426K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3283 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) GACTTAATTTCCTTTTGAGAT 0.408000 19 46 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17699232 17699232 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:17699232G>A ENST00000353383.1 + 3 3439 c.2970G>A c.(2968-2970)gaG>gaA p.E990E RAI1_ENST00000261641.6_Silent_p.E990E NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 990 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) CAAAGAAAGAGCCTGTGCCAC 0.672000 22 7 0 0 1 0 0 NDUFB7 4713 broad.mit.edu 37 19 14676961 14676961 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:14676961G>T ENST00000215565.2 - 3 459 c.398C>A c.(397-399)cCc>cAc p.P133H NM_004146.5 NP_004137.2 P17568 NDUB7_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa 133 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 NADH(DB00157) GGCCACCTTGGGGTCCACTTC 0.637000 6 8 0.0215528 0.0216286 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124283897 124283897 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:124283897G>A ENST00000409039.3 + 13 1939 c.1914G>A c.(1912-1914)atG>atA p.M638I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 638 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAGCTCTCATGAAGAAGAGCC 0.498000 26 14 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34818158 34818158 + Missense_Mutation SNP G G A rs35436513 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:34818158G>A ENST00000360581.1 + 3 493 c.365G>A c.(364-366)cGa>cAa p.R122Q NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.R111Q|NPSR1_ENST00000381553.3_Missense_Mutation_p.R122Q|NPSR1_ENST00000381539.3_Missense_Mutation_p.R122Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.R122Q NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 122 R -> Q (in dbSNP:rs35436513). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity p.R122Q(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CTGGTTTGCCGAGTGGTCCGC 0.403000 30 33 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46901895 46901895 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:46901895G>A ENST00000359759.4 + 13 2896 c.2875G>A c.(2875-2877)Gga>Aga p.G959R COL18A1_ENST00000355480.5_Missense_Mutation_p.G724R|COL18A1_ENST00000400337.2_Missense_Mutation_p.G544R P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 959 Triple-helical region 3 (COL3). 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) AGGCCCTCCGGGAAGAGAGGG 0.602000 27 24 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128598594 128598594 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:128598594G>A ENST00000308982.7 + 1 141 c.60G>A c.(58-60)ctG>ctA p.L20L NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 20 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 GCCGGGGTCTGGTGGTCTCTA 0.642000 70 67 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585410 70585410 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:70585410G>A ENST00000260126.3 - 10 2947 c.2241C>T c.(2239-2241)ttC>ttT p.F747F SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 747 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TAAACCCAACGAATTTGAGGC 0.488000 66 97 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34025252 34025252 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:34025252C>T ENST00000374372.1 - 3 960 c.457G>A c.(457-459)Ggg>Agg p.G153R GDF5_ENST00000374369.3_Missense_Mutation_p.G153R P43026 GDF5_HUMAN growth differentiation factor 5 153 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CGTGGGGGCCCGGGCTCCCTG 0.632000 57 82 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102568881 102568881 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:102568881C>T ENST00000370296.2 + 8 1426 c.876C>T c.(874-876)tcC>tcT p.S292S PAX2_ENST00000355243.3_Silent_p.S269S|PAX2_ENST00000556085.1_Silent_p.S268S|PAX2_ENST00000428433.1_Silent_p.S292S|PAX2_ENST00000361791.3_Silent_p.S269S Q02962 PAX2_HUMAN paired box 2 292 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) ACGAGTACTCCCTCCCAGCCC 0.572000 91 29 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100211920 100211920 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:100211920G>A ENST00000524871.1 + 23 3303 c.3013G>A c.(3013-3015)Gaa>Aaa p.E1005K CNTN5_ENST00000528682.1_Missense_Mutation_p.E1005K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E1005K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E931K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 1005 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CAACGAATCTGAAGTTGTGGG 0.433000 45 85 0 0 1 0 0 SIX6 4990 broad.mit.edu 37 14 60976584 60976584 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:60976584C>A ENST00000327720.5 + 1 916 c.468C>A c.(466-468)agC>agA p.S156R NM_007374.2 NP_031400.2 O95475 SIX6_HUMAN SIX homeobox 6 156 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) CTAACCCCAGCAAAAAACGTG 0.602000 3 25 1 1 1 1 0 DNAH17 8632 broad.mit.edu 37 17 76490157 76490157 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:76490157G>A ENST00000389840.5 - 41 6451 c.6327C>T c.(6325-6327)tcC>tcT p.S2109S RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Silent_p.S2118S|RP11-559N14.5_ENST00000585969.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGATGAACACGGAGTGGCGGA 0.637000 13 29 0 0 1 0 0 NAALADL2 254827 broad.mit.edu 37 3 175473111 175473111 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:175473111G>A ENST00000454872.1 + 13 2222 c.2094G>A c.(2092-2094)aaG>aaA p.K698K NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 698 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) ATGATCCCAAGGAGAGAGCAC 0.493000 10 36 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32369581 32369581 + Splice_Site SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:32369581C>T ENST00000454136.3 - 4 715 c.709_splice c.e4-1 p.E237_splice BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000414363.1_Splice_Site_p.E27_splice|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374993.1_Splice_Site_p.E237_splice Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 237 Ig-like V-type 3. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 TCTGGAGTTTCTCTGGAAAAA 0.448000 14 26 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607227 84607227 + Silent SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:84607227G>C ENST00000344803.2 + 4 1889 c.1842G>C c.(1840-1842)cgG>cgC p.R614R NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ACGAGGCACGGTCTCTTTTGC 0.483000 41 12 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73679775 73679775 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:73679775C>T ENST00000264448.6 + 8 6229 c.6118C>T c.(6118-6120)Cag>Tag p.Q2040* ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q2040*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q1998* NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2040 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GACTCCATCCCAGACAGCTTT 0.388000 84 110 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101348391 101348391 + Missense_Mutation SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:101348391G>C ENST00000534062.1 - 1 2793 c.2735C>G c.(2734-2736)cCt>cGt p.P912R NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 912 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 AACCTCGATAGGGGAGATGTT 0.592000 11 19 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760924 92760924 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:92760924G>A ENST00000318238.4 - 5 5577 c.4361C>T c.(4360-4362)tCc>tTc p.S1454F SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1454F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1454F NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1454 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TCTATTTAAGGATGAAACATA 0.428000 75 146 0 0 1 0 0 NMRK1 54981 broad.mit.edu 37 9 77684849 77684849 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:77684849G>A ENST00000376811.1 - 6 753 c.291C>T c.(289-291)ccC>ccT p.P97P NMRK1_ENST00000376808.4_Silent_p.P93P|NMRK1_ENST00000361092.4_Silent_p.P93P Q9NWW6 NRK1_HUMAN nicotinamide riboside kinase 1 93 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|ribosylnicotinamide kinase activity TGATTAAAATGGGAATTTCCT 0.398000 37 22 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46976370 46976370 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:46976370C>T ENST00000264318.3 - 6 1582 c.600G>A c.(598-600)atG>atA p.M200I 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 4 200 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 p.M200I(1) 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) AGGTATAGATCATCTCACTCT 0.403000 16 56 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189950480 189950480 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:189950480C>T ENST00000374866.3 - 10 983 c.709G>A c.(709-711)Gga>Aga p.G237R NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 237 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) CCAGGAGGTCCTGTAGGTCCT 0.388000 15 23 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78925602 78925602 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:78925602C>T ENST00000545128.1 + 29 4176 c.3638C>T c.(3637-3639)tCc>tTc p.S1213F NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 865 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCCTGTGTTTCCTCCTGTCCC 0.512000 20 3 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121746728 121746728 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:121746728G>A ENST00000452319.1 + 14 3298 c.3238G>A c.(3238-3240)Gag>Aag p.E1080K GLI2_ENST00000314490.11_Missense_Mutation_p.E752K|GLI2_ENST00000361492.4_Missense_Mutation_p.E1080K P10070 GLI2_HUMAN GLI family zinc finger 2 1080 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 p.E1080*(1) 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) CGCTCTGGACGAGGGCACCGG 0.692000 51 100 0 0 1 0 0 PRLH 51052 broad.mit.edu 37 2 238475806 238475806 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:238475806C>T ENST00000165524.1 + 2 252 c.252C>T c.(250-252)tcC>tcT p.S84S NM_015893.1 NP_056977.1 P81277 PRRP_HUMAN prolactin releasing hormone 84 extracellular region endometrium(1)|large_intestine(1) 2 Lung NSC(271;0.142)|all_lung(227;0.175) Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249) CTATGTCGTCCCAGGATGGCT 0.637000 17 13 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79663933 79663933 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:79663933C>T ENST00000329138.4 + 18 1922 c.1787C>T c.(1786-1788)gCc>gTc p.A596V NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 596 Gln-rich.|Interaction with NF2. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TTCAGCCCTGCCGGCTCGGTG 0.692000 52 80 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176904 140176904 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140176904G>A ENST00000526136.1 + 1 2355 c.2355G>A c.(2353-2355)gaG>gaA p.E785E PCDHA2_ENST00000520672.2_Silent_p.E785E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.E785E NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCAGAAGAGAAACAGCTCT 0.453000 32 69 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672369 186672369 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:186672369C>T ENST00000343098.5 + 17 18603 c.18603C>T c.(18601-18603)atC>atT p.I6201I FSIP2_ENST00000424728.1_Silent_p.I6112I NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GATGCAAAATCCTTTCAGAAA 0.378000 39 94 0 0 1 0 0 ICAM4 3386 broad.mit.edu 37 19 10397970 10397970 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:10397970G>A ENST00000393717.2 + 1 291 c.282G>A c.(280-282)ccG>ccA p.P94P CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.P94P|ICAM4_ENST00000340992.4_Silent_p.P94P NM_022377.3 NP_071772.1 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 94 Ig-like C2-type 1. cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TCAGAGGGCCGGGTTGGGTGT 0.652000 3 46 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 6 97 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 55999642 55999642 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:55999642C>T ENST00000313264.4 - 1 1095 c.1020G>A c.(1018-1020)atG>atA p.M340I NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 340 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ACATTTTTTTCATTGAGTCTT 0.333000 36 42 0 0 1 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48198167 48198167 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:48198167G>A ENST00000396720.3 + 9 3100 c.2906G>A c.(2905-2907)gGa>gAa p.G969E CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 969 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GTGCCGTCCGGAATCATCCTC 0.677000 15 32 0 0 1 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27868344 27868344 + Missense_Mutation SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:27868344G>C ENST00000396319.2 + 17 2354 c.2266G>C c.(2266-2268)Gtg>Ctg p.V756L TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V557L|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V714L|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V780L|TAX1BP1_ENST00000488564.1_3'UTR|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V714L NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 756 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) TCACTGGAAGGTGTGCCCGAT 0.433000 48 81 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141734623 141734623 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:141734623C>T ENST00000475668.2 + 16 1995 c.1941C>T c.(1939-1941)aaC>aaT p.N647N MGAM_ENST00000549489.2_Silent_p.N647N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 647 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) TTGAGTTCAACCTTTTTGGCA 0.502000 16 39 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111080194 111080194 + Splice_Site SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:111080194G>C ENST00000551590.1 + 11 1487 c.1331_splice c.e11+1 p.R444_splice HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Splice_Site_p.R430_splice|TCTN1_ENST00000397659.4_Splice_Site_p.R444_splice|TCTN1_ENST00000377654.3_Intron Q2MV58 TECT1_HUMAN tectonic family member 1 444 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 TGTAAACTAAGGTAAAAGAGT 0.413000 24 21 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280121 152280121 + Missense_Mutation SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:152280121A>G ENST00000368799.1 - 3 7276 c.7241T>C c.(7240-7242)tTc>tCc p.F2414S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2414 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) CTGGTAGAGGAAAGACCCTGA 0.612000 Ichthyosis 141 220 0 0 1 0 0 FGF3 2248 broad.mit.edu 37 11 69625098 69625098 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:69625098G>A ENST00000334134.2 - 3 785 c.695C>T c.(694-696)tCc>tTc p.S232F NM_005247.2 NP_005238.1 P11487 FGF3_HUMAN fibroblast growth factor 3 232 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) CTCCAGCTGGGAGCCCAGTCT 0.672000 7 12 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6694576 6694576 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:6694576G>A ENST00000245907.6 - 24 3112 c.3020C>T c.(3019-3021)cCc>cTc p.P1007L NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1007 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GCAGCCCGAGGGGGTCACAAT 0.607000 35 59 0 0 1 0 0 PCYOX1 51449 broad.mit.edu 37 2 70486650 70486650 + Missense_Mutation SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:70486650G>C ENST00000433351.2 + 2 299 c.271G>C c.(271-273)Gtc>Ctc p.V91L PCYOX1_ENST00000545138.1_Missense_Mutation_p.V13L|PCYOX1_ENST00000505044.2_Missense_Mutation_p.V14L|PCYOX1_ENST00000264441.5_Missense_Mutation_p.V91L NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 91 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 AGGAGGTTCTGTCATCCATCC 0.488000 161 262 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41188156 41188156 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:41188156G>A ENST00000220509.5 + 2 451 c.112G>A c.(112-114)Gag>Aag p.E38K VPS18_ENST00000558474.1_Missense_Mutation_p.E38K NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 38 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TGCCCAGCTGGAGAAGGAAGT 0.507000 80 33 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74878370 74878370 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:74878370C>T ENST00000569840.2 + 3 893 c.319C>T c.(319-321)Ccc>Tcc p.P107S MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.P107S|MGAT5B_ENST00000428789.2_Missense_Mutation_p.P118S|MGAT5B_ENST00000565675.1_Missense_Mutation_p.P107S NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 107 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTGCACTTTCCCGCAGACAG 0.662000 15 15 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2857628 2857628 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:2857628C>T ENST00000602557.1 - 54 8613 c.8058G>A c.(8056-8058)ccG>ccA p.P2686P CSMD1_ENST00000400186.3_Silent_p.P2628P|CSMD1_ENST00000602723.1_Silent_p.P2628P|CSMD1_ENST00000542608.1_Silent_p.P2627P|CSMD1_ENST00000520002.1_Silent_p.P2686P|CSMD1_ENST00000537824.1_Silent_p.P2685P Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2686 Sushi 18. 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) CGTTCACAATCGGGTCTGGGG 0.423000 32 63 0 0 1 0 0 TMEM229B 161145 broad.mit.edu 37 14 67940434 67940434 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:67940434G>A ENST00000357461.2 - 3 616 c.207C>T c.(205-207)ggC>ggT p.G69G TMEM229B_ENST00000557006.1_Silent_p.G69G NM_182526.2 NP_872332.1 Q8NBD8 T229B_HUMAN transmembrane protein 229B 69 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GCGGGCAGCGGCCGCGCAGCC 0.637000 8 5 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124824947 124824947 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:124824947G>A ENST00000356219.3 - 37 5557 c.5402C>T c.(5401-5403)tCc>tTc p.S1801F NCOR2_ENST00000429285.2_Missense_Mutation_p.S1784F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1355F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1785F|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1784F|NCOR2_ENST00000405201.1_Missense_Mutation_p.S1794F NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1802 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) CTCCCGCTCGGACGAGGACGT 0.622000 25 8 0 0 1 0 0 RSC1A1 6248 broad.mit.edu 37 1 15987431 15987431 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:15987431G>A ENST00000345034.1 + 1 1068 c.1068G>A c.(1066-1068)ttG>ttA p.L356L DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 356 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|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) CGGCAGCCTTGAAAGAACTTC 0.428000 34 8 0 0 1 0 0 ZNF555 148254 broad.mit.edu 37 19 2852659 2852659 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:2852659C>T ENST00000334241.4 + 4 734 c.596C>T c.(595-597)cCc>cTc p.P199L AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.P198L NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) GGAGAGAGACCCTATGTGTGT 0.463000 51 87 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74287323 74287323 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:74287323T>A ENST00000262765.5 - 4 3166 c.2987A>T c.(2986-2988)gAc>gTc p.D996V NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 996 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 TAAGACTCGGTCGACGGAGTC 0.537000 35 69 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43106993 43106993 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:43106993C>T ENST00000230419.4 + 9 1703 c.1482C>T c.(1480-1482)gcC>gcT p.A494A PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Silent_p.A494A|PTK7_ENST00000352931.2_Silent_p.A494A|PTK7_ENST00000481273.1_Silent_p.A502A NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 494 Ig-like C2-type 5. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGGCGCAAGCCCGTGTCCAAG 0.622000 23 51 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 36993332 36993332 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:36993332G>A ENST00000217407.2 + 8 1008 c.847G>A c.(847-849)Gat>Aat p.D283N NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 283 D -> G (in dbSNP:rs2232607). 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) TGCCATCTCGGATTATGTCTT 0.468000 75 100 0 0 1 0 0 PRKRIP1 79706 broad.mit.edu 37 7 102036926 102036926 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:102036926T>A ENST00000496391.1 + 5 1378 c.68T>A c.(67-69)aTc>aAc p.I23N PRKRIP1_ENST00000354783.4_5'UTR|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.I23N|PRKRIP1_ENST00000482465.1_Intron Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 23 Interaction with EIF2AK2 (By similarity). nucleolus endometrium(1)|lung(4)|ovary(1) 6 ACGCTCGTCATCCCCAAGAAT 0.672000 25 39 0 0 1 0 0 RASSF4 83937 broad.mit.edu 37 10 45465704 45465704 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:45465704C>T ENST00000334940.6 + 2 188 c.54C>T c.(52-54)tcC>tcT p.S18S RASSF4_ENST00000374417.2_Silent_p.S18S|RASSF4_ENST00000340258.4_Silent_p.S18S Q9H2L5 RASF4_HUMAN Ras association (RalGDS/AF-6) domain family member 4 18 cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 ACAGCAAGTCCATTCAGAAGT 0.537000 39 98 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735579 158735579 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:158735579C>T ENST00000335094.2 - 1 913 c.894G>A c.(892-894)aaG>aaA p.K298K NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) TCACAGCCTCCTTGATCTCCT 0.562000 85 116 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48343058 48343058 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:48343058C>T ENST00000221996.7 + 4 940 c.734C>T c.(733-735)tCc>tTc p.S245F TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.S245F NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 245 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) GTGGGACCTTCCCTGGCCCAG 0.637000 107 205 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544905 82544905 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:82544905G>A ENST00000423517.2 - 7 12734 c.12397C>T c.(12397-12399)Cgt>Tgt p.R4133C PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GTCCCTCTACGAAATTCCTGT 0.408000 46 67 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36483101 36483101 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:36483101C>T ENST00000342292.4 - 11 6371 c.6351G>A c.(6349-6351)tgG>tgA p.W2117* GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2117 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) CTACCACTTCCCACAGACACA 0.587000 53 89 0 0 1 0 0 MARVELD2 153562 broad.mit.edu 37 5 68715383 68715383 + Silent SNP C C T rs142002229 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:68715383C>T ENST00000325631.5 + 2 245 c.171C>T c.(169-171)ttC>ttT p.F57F MARVELD2_ENST00000413223.2_Silent_p.F57F NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 57 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) AGCCACCATTCGGCCCAGACT 0.522000 63 46 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17432173 17432173 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:17432173G>A ENST00000302539.4 - 22 2712 c.2587C>T c.(2587-2589)Cat>Tat p.H863Y ABCC8_ENST00000389817.3_Missense_Mutation_p.H862Y NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 862 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TCACTCAGATGGATATCCAGA 0.547000 49 80 0 0 1 0 0 KLHL40 131377 broad.mit.edu 37 3 42730461 42730461 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:42730461C>T ENST00000287777.4 + 4 1622 c.1522C>T c.(1522-1524)Cat>Tat p.H508Y NM_152393.2 NP_689606.2 kelch-like family member 40 GGCCACTGTCCATGATGGCCG 0.552000 12 49 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57579590 57579590 + Missense_Mutation SNP C C T rs140707279 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:57579590C>T ENST00000243077.3 + 41 7206 c.6740C>T c.(6739-6741)aCc>aTc p.T2247I NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2247 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGGGCAGGCACCTCTCCGGGC 0.582000 40 68 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77700219 77700219 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:77700219C>T ENST00000296043.6 + 11 6833 c.5880C>T c.(5878-5880)ttC>ttT p.F1960F RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1960 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CCTCAGATTTCATTCCCAAGG 0.557000 24 63 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179470198 179470198 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179470198C>T ENST00000589042.1 - 279 54048 c.53824G>A c.(53824-53826)Gaa>Aaa p.E17942K TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16301K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9069K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9002K|TTN_ENST00000342992.6_Missense_Mutation_p.E15374K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8877K|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16301 Fibronectin type-III 30. 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) TCACCAATTTCATTGACAGCT 0.363000 27 64 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41577323 41577323 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:41577323G>A ENST00000396942.1 - 10 1046 c.963C>T c.(961-963)gtC>gtT p.V321V ANK1_ENST00000396945.1_Silent_p.V321V|ANK1_ENST00000352337.4_Silent_p.V321V|ANK1_ENST00000265709.8_Silent_p.V354V|ANK1_ENST00000289734.7_Silent_p.V321V|ANK1_ENST00000379758.2_Silent_p.V321V|ANK1_ENST00000347528.4_Silent_p.V321V P16157 ANK1_HUMAN ankyrin 1, erythrocytic 321 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ACAGGAGCCGGACACAGTCGA 0.577000 72 78 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73051547 73051547 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:73051547C>T ENST00000335350.6 + 10 2069 c.1653C>T c.(1651-1653)tgC>tgT p.C551C UNC5B_ENST00000373192.4_Silent_p.C540C NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 551 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CCTTTGGCTGCCTGGGTGGGA 0.682000 11 31 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10408294 10408294 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:10408294G>A ENST00000226207.5 - 22 2618 c.2524C>T c.(2524-2526)Ccc>Tcc p.P842S CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 842 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 TTGAGGAGGGGTTTGATCTTG 0.458000 53 69 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14024387 14024387 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:14024387G>A ENST00000318003.7 + 6 925 c.684G>A c.(682-684)ctG>ctA p.L228L CC2D1A_ENST00000589606.1_Silent_p.L228L NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 228 Pro-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGGTCACCCTGGAGGGACCTT 0.672000 27 35 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10362664 10362664 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:10362664G>A ENST00000255381.2 - 15 1601 c.1491C>T c.(1489-1491)ttC>ttT p.F497F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 497 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTCCAGCACGAACATGTGGT 0.483000 68 94 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195497107 195497107 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:195497107G>A ENST00000463781.3 - 6 13837 c.13378C>T c.(13378-13380)Cct>Tct p.P4460S MUC4_ENST00000349607.4_Missense_Mutation_p.P173S|MUC4_ENST00000475231.1_Intron|MUC4_ENST00000346145.4_Missense_Mutation_p.P224S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1217 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) CACTGGGCAGGATAGGCGTGG 0.592000 6 10 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39728057 39728057 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:39728057C>T ENST00000246662.4 - 1 253 c.188G>A c.(187-189)aGg>aAg p.R63K KRT9_ENST00000588431.1_Intron NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 63 Head. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) ACCGCCTCCCCTCCCACAGAC 0.612000 15 17 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150437134 150437134 + Nonsense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:150437134G>T ENST00000401000.4 + 9 1530 c.1465G>T c.(1465-1467)Gag>Tag p.E489* RPRD2_ENST00000539519.1_Nonsense_Mutation_p.E489*|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Nonsense_Mutation_p.E515* Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 515 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CTCCAAGGTGGAGATCACCCC 0.542000 OREG0013786 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 11 3.27435e-08 3.32388e-08 1 1 0 A2ML1 144568 broad.mit.edu 37 12 8991815 8991815 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:8991815G>A ENST00000299698.7 + 10 1257 c.1077G>A c.(1075-1077)ggG>ggA p.G359G NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 203 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 CCTTCAGTGGGAAGGTATGTT 0.408000 11 27 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30862999 30862999 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:30862999G>A ENST00000403066.1 - 7 595 c.312C>T c.(310-312)ttC>ttT p.F104F SEC14L3_ENST00000539629.1_Silent_p.F104F|SEC14L3_ENST00000215812.4_Silent_p.F163F|SEC14L3_ENST00000415957.2_Silent_p.F104F|SEC14L3_ENST00000540910.1_Silent_p.F86F|SEC14L3_ENST00000402286.1_Silent_p.F86F|SEC14L3_ENST00000401751.1_Silent_p.F104F Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 163 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) GAGGTTTCCAGAAGTGTTTCA 0.522000 39 65 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107361077 107361077 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:107361077G>A ENST00000374779.2 - 1 711 c.618C>T c.(616-618)ttC>ttT p.F206F NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 GTGTCAATAGGAACAATGTTG 0.398000 84 139 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726749 25726749 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:25726749C>T ENST00000297012.3 - 1 41 c.7G>A c.(7-9)Gga>Aga p.G3R NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 3 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 TTCCCTCGTCCAGACATCTCC 0.522000 54 113 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731610 92731610 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:92731610G>A ENST00000379958.2 - 3 4070 c.3801C>T c.(3799-3801)tcC>tcT p.S1267S NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1267 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) AAAAATCAAAGGACTTTTTCA 0.318000 39 46 0 0 1 0 0 CYP4V2 285440 broad.mit.edu 37 4 187130114 187130114 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:187130114C>T ENST00000378802.4 + 9 1490 c.1186C>T c.(1186-1188)Cct>Tct p.P396S CYP4V2_ENST00000502665.1_3'UTR NM_207352.3 NP_997235.3 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily V, polypeptide 2 396 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2) 20 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) TCCTTCTGTTCCTTTATTTGC 0.438000 24 52 0 0 1 0 0 SPRY1 10252 broad.mit.edu 37 4 124322915 124322915 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:124322915C>T ENST00000394339.2 + 2 509 c.169C>T c.(169-171)Cct>Tct p.P57S SPRY1_ENST00000339241.1_Missense_Mutation_p.P57S NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 57 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 CACAGAAGGGCCTTCGGTGGT 0.433000 27 124 0 0 1 0 0 C22orf42 150297 broad.mit.edu 37 22 32545752 32545752 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:32545752C>T ENST00000382097.3 - 8 742 c.670G>A c.(670-672)Gaa>Aaa p.E224K C22orf42_ENST00000490640.1_5'UTR NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 224 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 AGGTAATCTTCATATCTCTCC 0.338000 13 24 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46786383 46786383 + Splice_Site SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:46786383C>T ENST00000262738.3 - 17 6250 c.6250_splice c.e17-1 p.G2084_splice NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2084 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GACCGCATTTCCTGGGGAAGG 0.517000 OREG0026656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 13 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171765709 171765709 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:171765709G>A ENST00000311601.5 - 13 2570 c.2400C>T c.(2398-2400)gtC>gtT p.V800V SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 800 Pro-rich. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTTTGGAGGGACGAGGAGAG 0.617000 14 40 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5153889 5153889 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:5153889C>T ENST00000252321.3 + 1 805 c.576C>T c.(574-576)tcC>tcT p.S192S NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 192 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TCAACGTCTCCCTGGACGTGT 0.612000 35 45 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109771849 109771849 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:109771849G>A ENST00000277225.5 + 12 7502 c.7213G>A c.(7213-7215)Ggg>Agg p.G2405R RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.G1311R|ZNF462_ENST00000542028.1_Missense_Mutation_p.G362R|ZNF462_ENST00000457913.1_Missense_Mutation_p.G2465R Q96JM2 ZN462_HUMAN zinc finger protein 462 2405 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TTCTGACCACGGGGCTGCTCT 0.473000 29 37 0 0 1 0 0 EIF3K 27335 broad.mit.edu 37 19 39114828 39114828 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:39114828C>G ENST00000545173.2 + 3 346 c.270C>G c.(268-270)gaC>gaG p.D90E EIF3K_ENST00000588934.1_Missense_Mutation_p.D90E|EIF3K_ENST00000593149.1_Missense_Mutation_p.D3E|EIF3K_ENST00000248342.4_Missense_Mutation_p.D90E|EIF3K_ENST00000538434.1_Missense_Mutation_p.D3E|EIF3K_ENST00000592558.1_Missense_Mutation_p.D90E|EIF3K_ENST00000593062.1_3'UTR Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, subunit K 90 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity EIF3K/CYP39A1(2) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCATGATCGACCAGGCACATG 0.587000 18 43 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10433941 10433941 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:10433941G>A ENST00000293677.6 - 5 1090 c.1009C>T c.(1009-1011)Cgg>Tgg p.R337W NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 320 Interaction with PTBP1 (By similarity). cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CCCTTCCCCCGATTGAGGGCC 0.672000 19 29 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106124924 106124924 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:106124924G>A ENST00000375936.3 + 3 217 c.171G>A c.(169-171)agG>agA p.R57R DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR NM_001161812.1|NM_172370.3 NP_001155284.1|NP_758958.3 P59103 DAOA_HUMAN D-amino acid oxidase activator 57 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) CGGTAACAAGGAAAGAAGGAT 0.398000 13 39 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834450 101834450 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:101834450C>T ENST00000506729.1 - 1 270 c.99G>A c.(97-99)agG>agA p.R33R SLCO6A1_ENST00000389019.3_Silent_p.R33R|SLCO6A1_ENST00000379807.3_Silent_p.R33R|SLCO6A1_ENST00000379810.1_Silent_p.R33R|SLCO6A1_ENST00000513675.1_Silent_p.R33R Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 33 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CCTTGGCCCTCCTGTCCTTAG 0.607000 107 245 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127222362 127222362 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:127222362C>T ENST00000321407.2 - 2 2458 c.2034G>A c.(2032-2034)gaG>gaA p.E678E NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 678 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GCACCTCGACCTCCAGCCTGT 0.587000 37 60 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55693424 55693424 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:55693424C>T ENST00000376350.3 - 19 3180 c.3158G>A c.(3157-3159)aGg>aAg p.R1053K PTPRH_ENST00000263434.5_Missense_Mutation_p.R875K NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1053 Tyrosine-protein phosphatase. 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) TCTCATCTTCCTTACAAAGCT 0.632000 86 115 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147023 55147023 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:55147023G>A ENST00000370862.3 + 7 1442 c.1105_splice c.e7-1 p.G369_splice NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 369 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TGTTTGCCAGGAAAATTTCGA 0.438000 5 16 0 0 1 0 0 PMPCA 23203 broad.mit.edu 37 9 139317677 139317677 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:139317677G>A ENST00000371717.3 + 13 1548 c.1539G>A c.(1537-1539)aaG>aaA p.K513K PMPCA_ENST00000399219.3_Silent_p.K382K NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 513 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) TGTCGAGTAAGGACGGGCGCC 0.662000 17 31 0 0 1 0 0 YWHAG 7532 broad.mit.edu 37 7 75959290 75959290 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:75959290C>T ENST00000307630.3 - 2 570 c.348G>A c.(346-348)caG>caA p.Q116Q NM_012479.3 NP_036611.2 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 116 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 TGCTCTCGTACTGGGTCTCGC 0.547000 76 114 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145772573 145772573 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:145772573C>T ENST00000276826.5 - 4 2098 c.1897G>A c.(1897-1899)Gag>Aag p.E633K ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E633K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E633K Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 633 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 ACGCTCTTCTCCAGCAGGATC 0.662000 16 25 0 0 1 0 0 METTL17 64745 broad.mit.edu 37 14 21464746 21464746 + Nonsense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:21464746G>T ENST00000339374.6 + 13 1374 c.1141G>T c.(1141-1143)Gag>Tag p.E381* METTL17_ENST00000382985.4_Nonsense_Mutation_p.E381*|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Nonsense_Mutation_p.E381* NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 381 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 GTCTCCAGAGGAGGCTCATCG 0.488000 20 27 8.00594e-06 8.08387e-06 1 1 0 OR5D13 390142 broad.mit.edu 37 11 55541018 55541018 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:55541018C>T ENST00000361760.1 + 1 105 c.105C>T c.(103-105)ttC>ttT p.F35F NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 35 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) TTTTCTTGTTCGTCTACACAG 0.398000 54 108 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119044226 119044226 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:119044226G>A ENST00000334464.5 - 5 2257 c.2018C>T c.(2017-2019)tCg>tTg p.S673L PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 673 intracellular signal transduction metal ion binding p.S673L(1) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) ACGGTCGTCCGAACTGTCCTT 0.433000 37 16 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7172378 7172378 + Silent SNP G G T rs56135071 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:7172378G>T ENST00000341500.5 - 5 1230 c.1191C>A c.(1189-1191)atC>atA p.I397I INSR_ENST00000302850.5_Silent_p.I397I NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 397 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGATCGGCGGATTTTTAGAT 0.478000 61 82 3.74213e-36 3.87105e-36 1 1 0 APOB 338 broad.mit.edu 37 2 21235041 21235041 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:21235041C>T ENST00000233242.1 - 26 4826 c.4699G>A c.(4699-4701)Gag>Aag p.E1567K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1567 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) AAAGTCAGCTCGTAGTTCTCA 0.418000 21 42 0 0 1 0 0 SLC16A11 162515 broad.mit.edu 37 17 6946862 6946862 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:6946862G>A ENST00000308009.1 - 1 380 c.43C>T c.(43-45)Cac>Tac p.H15Y SLC16A11_ENST00000447225.1_5'UTR NM_153357.1 NP_699188.1 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 15 integral to membrane|plasma membrane symporter activity endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2) 9 AAACATCTGTGAGAGAAGCCT 0.716000 24 35 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32058099 32058099 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:32058099C>T ENST00000438447.1 + 12 2478 c.2090C>T c.(2089-2091)aCc>aTc p.T697I PDZD2_ENST00000282493.3_Missense_Mutation_p.T697I O15018 PDZD2_HUMAN PDZ domain containing 2 697 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AACTTCAATACCAGTGGGGGA 0.562000 82 45 0 0 1 0 0 SSTR5 6755 broad.mit.edu 37 16 1129540 1129540 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:1129540C>T ENST00000293897.4 + 1 760 c.672C>T c.(670-672)atC>atT p.I224I SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.I224I NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 224 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) ACCTGCTCATCGTGGTGAAGG 0.687000 23 10 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321791 79321791 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:79321791C>T ENST00000428286.1 - 8 5522 c.4322G>A c.(4321-4323)tGg>tAg p.W1441* PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.W1800* Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1800 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGATATTTGCCATGCAACATC 0.463000 7 4 0 0 1 0 0 TCEB3 6924 broad.mit.edu 37 1 24077922 24077922 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:24077922C>T ENST00000418390.2 + 4 1176 c.905C>T c.(904-906)tCc>tTc p.S302F NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 302 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AAGGCCCTCTCCAAAGAGGAG 0.552000 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 13 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46398990 46398990 + Translation_Start_Site SNP A A T rs34738867 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:46398990A>T ENST00000292301.4 + 0 457 CCR2_ENST00000400888.2_De_novo_Start_OutOfFrame|CCR2_ENST00000445132.2_De_novo_Start_OutOfFrame|CCR2_ENST00000465202.1_Intron NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GGATTGAACAAGGACGCATTT 0.433000 23 40 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189917479 189917479 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:189917479G>A ENST00000374866.3 - 40 2985 c.2711C>T c.(2710-2712)cCg>cTg p.P904L NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 904 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) ACTTACAGGCGGACCTTGGGT 0.408000 14 22 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43944838 43944838 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:43944838C>T ENST00000343694.3 + 10 1104 c.1032C>T c.(1030-1032)tgC>tgT p.C344C RBPJL_ENST00000372741.3_Silent_p.C344C|RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372743.1_Silent_p.C344C NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 344 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) CCTCTCCCTGCCCCAAGGAGG 0.617000 31 66 0 0 1 0 0 TMEM214 54867 broad.mit.edu 37 2 27263260 27263260 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:27263260G>A ENST00000238788.9 + 16 1901 c.1839G>A c.(1837-1839)ctG>ctA p.L613L TMEM214_ENST00000404032.3_Silent_p.L568L NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 613 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TCCGCTATCTGAGAGAGCTGC 0.587000 55 105 0 0 1 0 0 DEGS2 123099 broad.mit.edu 37 14 100613236 100613236 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:100613236C>T ENST00000553834.1 - 2 98 c.91G>A c.(91-93)Gat>Aat p.D31N DEGS2_ENST00000305631.5_Silent_p.K278K Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 31 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) CGGGCGCGATCTTCCGCACCT 0.662000 44 64 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161042633 161042633 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:161042633C>T ENST00000368012.3 - 9 1653 c.1351G>A c.(1351-1353)Gtg>Atg p.V451M PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.V160M NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 451 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) ATCTCCCTCACCGTGGTCAGC 0.582000 18 21 0 0 1 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27868343 27868343 + Silent SNP G G A rs77750724 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:27868343G>A ENST00000396319.2 + 17 2353 c.2265G>A c.(2263-2265)aaG>aaA p.K755K TAX1BP1_ENST00000433216.2_Silent_p.K556K|TAX1BP1_ENST00000543117.1_Silent_p.K713K|TAX1BP1_ENST00000409980.1_Silent_p.K779K|TAX1BP1_ENST00000488564.1_3'UTR|TAX1BP1_ENST00000265393.6_Silent_p.K713K NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 755 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) GTCACTGGAAGGTGTGCCCGA 0.433000 48 79 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161683033 161683033 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:161683033C>T ENST00000540926.1 + 6 1254 c.961C>T c.(961-963)Cct>Tct p.P321S FCRLA_ENST00000546024.1_Missense_Mutation_p.P243S|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198S|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148S|FCRLA_ENST00000367950.1_Missense_Mutation_p.P108S|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321S|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192S|FCRLA_ENST00000367959.2_Missense_Mutation_p.P338S|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97S|FCRLA_ENST00000349527.4_Missense_Mutation_p.P220S|FCRLA_ENST00000309691.6_Missense_Mutation_p.P226S|FCRLA_ENST00000236938.6_Missense_Mutation_p.P332S|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181S Q7L513 FCRLA_HUMAN Fc receptor-like A 315 cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GATGCCAGATCCTCATCTGTA 0.567000 33 82 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120428784 120428784 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:120428784C>T ENST00000222747.3 - 8 1387 c.780G>A c.(778-780)atG>atA p.M260I TSPAN12_ENST00000415871.1_Missense_Mutation_p.M260I NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 260 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) TCAAGGACATCATTTGGTCTG 0.468000 54 76 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95385332 95385332 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:95385332G>A ENST00000371447.3 + 5 1003 c.864_splice c.e5-1 p.E289_splice NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 289 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TTGCCTCCAGGAATTCTACGA 0.378000 22 7 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19020728 19020728 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:19020728G>A ENST00000304381.5 + 2 432 c.302G>A c.(301-303)cGg>cAg p.R101Q TMC7_ENST00000569532.1_Missense_Mutation_p.R101Q|TMC7_ENST00000421369.3_5'UTR NM_024847.3 NP_079123.3 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 101 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TCTGAGAAGCGGAGACTAAGG 0.473000 54 19 0 0 1 0 0 PPM1L 151742 broad.mit.edu 37 3 160786795 160786795 + Missense_Mutation SNP A A C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:160786795A>C ENST00000498165.1 + 4 1034 c.933A>C c.(931-933)gaA>gaC p.E311D PPM1L_ENST00000295839.9_Missense_Mutation_p.E184D|PPM1L_ENST00000464260.1_Missense_Mutation_p.E132D|PPM1L_ENST00000480117.1_3'UTR NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 311 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TCAGCAATGAAGAAGCAGTTC 0.473000 32 64 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451749 19451749 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:19451749G>A ENST00000396229.2 + 3 1138 c.389G>A c.(388-390)gGa>gAa p.G130E TMC5_ENST00000381414.4_Missense_Mutation_p.G130E|TMC5_ENST00000541464.1_Missense_Mutation_p.G130E|TMC5_ENST00000542583.2_Missense_Mutation_p.G130E NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 130 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GACTACCCTGGATCTCAACGA 0.493000 185 74 0 0 1 0 0 PIGU 128869 broad.mit.edu 37 20 33173355 33173355 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:33173355A>T ENST00000374820.2 - 8 772 c.752T>A c.(751-753)aTt>aAt p.I251N PIGU_ENST00000452740.2_Missense_Mutation_p.I271N|PIGU_ENST00000480175.1_Intron Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 271 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 GAAAAGACCAATGTTTGGAGT 0.378000 83 125 0 0 1 0 0 ANXA3 306 broad.mit.edu 37 4 79518495 79518495 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:79518495C>T ENST00000264908.6 + 10 1036 c.657C>T c.(655-657)atC>atT p.I219I ANXA3_ENST00000512884.1_Silent_p.I180I|ANXA3_ENST00000503570.2_Silent_p.I180I NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 219 I -> N (in dbSNP:rs5948). defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ACAGAAATATCAGCCAAAAGG 0.338000 18 57 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158227228 158227228 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:158227228G>A ENST00000289429.5 + 5 1434 c.901G>A c.(901-903)Ggc>Agc p.G301S NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 301 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex 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) CAGTTCCGTGGGCTTCATCAT 0.468000 93 133 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129951877 129951877 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:129951877G>A ENST00000222482.4 + 10 1021 c.e10-1 CPA4_ENST00000493259.1_Splice_Site|CPA4_ENST00000445470.2_Splice_Site NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) CCCCTTCCCAGGACAAGGTGG 0.562000 11 32 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026489 37026489 + Silent SNP G G A rs146333223 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:37026489G>A ENST00000358047.3 + 1 58 c.6G>A c.(4-6)ggG>ggA p.G2G NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 2 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 CCACCATGGGGGACCAGAGGC 0.662000 8 3 0 0 1 0 0 LRP3 4037 broad.mit.edu 37 19 33696367 33696367 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:33696367G>A ENST00000253193.7 + 5 893 c.691G>A c.(691-693)Gag>Aag p.E231K NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 231 LDL-receptor class A 2. receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) CCTGCCTGTGGAGCGGCGCTG 0.761000 11 17 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86310221 86310221 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:86310221G>A ENST00000263857.6 - 7 1179 c.801C>T c.(799-801)gcC>gcT p.A267A POLR1A_ENST00000409681.1_Silent_p.A267A O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 267 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 TCTTCCACAGGGCAGAAAGGT 0.453000 24 35 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9450702 9450702 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:9450702C>A ENST00000379719.3 + 14 1692 c.1550C>A c.(1549-1551)gCt>gAt p.A517D NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 517 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) AAAGTGGAAGCTGCCATTGCC 0.408000 42 64 6.45866e-13 6.59743e-13 1 1 0 CD109 135228 broad.mit.edu 37 6 74528124 74528124 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:74528124G>A ENST00000437994.2 + 31 4305 c.3874G>A c.(3874-3876)Ggt>Agt p.G1292S CD109_ENST00000422508.2_Missense_Mutation_p.G1232S|CD109_ENST00000287097.5_Missense_Mutation_p.G1309S NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1309 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTCGGGCCCGGGTAGGAGTGG 0.413000 21 63 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173352513 173352513 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:173352513G>A ENST00000375221.2 + 18 2622 c.2419G>A c.(2419-2421)Gat>Aat p.D807N ITGA6_ENST00000343713.4_Missense_Mutation_p.D763N|ITGA6_ENST00000264107.7_Missense_Mutation_p.D768N|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Missense_Mutation_p.D768N|ITGA6_ENST00000409532.1_Missense_Mutation_p.D649N|ITGA6_ENST00000264106.6_Missense_Mutation_p.D807N P23229 ITA6_HUMAN integrin, alpha 6 807 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) CCCAGATCTGGATATTAATCT 0.363000 26 45 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820325 159820325 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:159820325C>T ENST00000497452.1 - 0 517 AGCACCAGACCCCCTCCCAAC 0.458000 24 39 0 0 1 0 0 NDRG2 57447 broad.mit.edu 37 14 21490272 21490272 + Missense_Mutation SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:21490272A>G ENST00000556147.1 - 5 1233 c.293T>C c.(292-294)gTt>gCt p.V98A NDRG2_ENST00000298687.5_Missense_Mutation_p.V98A|NDRG2_ENST00000554143.1_Missense_Mutation_p.V84A|NDRG2_ENST00000397856.3_Missense_Mutation_p.V84A|NDRG2_ENST00000350792.3_Missense_Mutation_p.V84A|NDRG2_ENST00000397851.2_Missense_Mutation_p.V98A|NDRG2_ENST00000397855.3_Missense_Mutation_p.V84A|NDRG2_ENST00000555158.1_Missense_Mutation_p.V84A|NDRG2_ENST00000298684.5_Missense_Mutation_p.V84A|NDRG2_ENST00000553503.1_Missense_Mutation_p.V84A|NDRG2_ENST00000360463.3_Missense_Mutation_p.V84A|NDRG2_ENST00000397858.1_Missense_Mutation_p.V98A|NDRG2_ENST00000403829.3_Missense_Mutation_p.V94A|NDRG2_ENST00000397844.2_Missense_Mutation_p.V84A|NDRG2_ENST00000397853.3_Missense_Mutation_p.V98A|NDRG2_ENST00000554104.1_Missense_Mutation_p.V11A|NDRG2_ENST00000397847.2_Missense_Mutation_p.V98A Q9UN36 NDRG2_HUMAN NDRG family member 2 98 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ATCCACATGAACCCGCACAAA 0.488000 38 62 0 0 1 0 0 AADACL2-AS1 101928142 broad.mit.edu 37 3 151502041 151502041 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:151502041C>T ENST00000483843.2 - 0 439 RP11-454C18.2_ENST00000475855.1_RNA|RP11-64D22.2_ENST00000483636.1_RNA AATATGACATCTTAAGAGATG 0.443000 10 3 0 0 1 0 0 IGHV2-70 28454 broad.mit.edu 37 14 107179246 107179246 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:107179246G>A ENST00000390634.2 - 0 92 CAGGAGCGTGGAACAAAGTAT 0.517000 14 30 0 0 1 0 0 SLC23A1 9963 broad.mit.edu 37 5 138713172 138713172 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:138713172C>A ENST00000353963.3 - 13 1518 c.1480G>T c.(1480-1482)Gat>Tat p.D494Y SLC23A1_ENST00000348729.3_Missense_Mutation_p.D490Y NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 490 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) AGAATCTGATCCACTTCAAGA 0.527000 17 27 3.52763e-06 3.56513e-06 1 1 0 TMEM214 54867 broad.mit.edu 37 2 27263261 27263261 + Silent SNP A A C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:27263261A>C ENST00000238788.9 + 16 1902 c.1840A>C c.(1840-1842)Aga>Cga p.R614R TMEM214_ENST00000404032.3_Silent_p.R569R NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 614 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCGCTATCTGAGAGAGCTGCC 0.587000 56 103 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518083 113518083 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:113518083C>T ENST00000284601.3 - 4 3132 c.3064G>A c.(3064-3066)Gaa>Aaa p.E1022K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1022 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 CTTGCTTCTTCCATATTCTCA 0.388000 77 91 0 0 1 0 0 HMP19 51617 broad.mit.edu 37 5 173531263 173531263 + Silent SNP C C T rs148432334 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:173531263C>T ENST00000303177.3 + 4 508 c.246C>T c.(244-246)ttC>ttT p.F82F NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR NM_015980.4 NP_057064.1 CCCTAGCTTTCCTTGCGTGCA 0.512000 35 42 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64593991 64593991 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:64593991G>A ENST00000342711.5 - 36 4549 c.4550C>T c.(4549-4551)tCt>tTt p.S1517F NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1517 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 GCAGGACACAGACTCGCTGGA 0.572000 9 11 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7749463 7749463 + Missense_Mutation SNP C C T rs145085233 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:7749463C>T ENST00000254846.5 + 6 693 c.304C>T c.(304-306)Cgg>Tgg p.R102W KDM6B_ENST00000448097.2_Missense_Mutation_p.R102W NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 102 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GGCATTGCTCCGGGAGCCAGC 0.637000 12 26 0 0 1 0 0 OGFRL1 79627 broad.mit.edu 37 6 72011712 72011712 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:72011712C>T ENST00000370435.4 + 7 1450 c.1316C>T c.(1315-1317)cCt>cTt p.P439L RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 439 membrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 AATGAAAATCCTGGAAATACA 0.368000 58 104 0 0 1 0 0 SH2B2 10603 broad.mit.edu 37 7 101952183 101952183 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:101952183C>T ENST00000536178.1 + 4 1092 c.1047C>T c.(1045-1047)gaC>gaT p.D349D SH2B2_ENST00000306803.8_Silent_p.D306D O14492 SH2B2_HUMAN SH2B adaptor protein 2 306 blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 GCTGCGTGGACCCCGGGTGAG 0.597000 67 142 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454806 114454806 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:114454806C>A ENST00000369563.3 + 4 2038 c.1592C>A c.(1591-1593)cCc>cAc p.P531H DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 531 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) 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) TACCATAAACCCTGCTGAAGA 0.448000 Other identified genes with known or suspected DNA repair function 37 51 6.02501e-08 6.1107e-08 1 1 0 SLC13A5 284111 broad.mit.edu 37 17 6596477 6596477 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:6596477C>T ENST00000433363.2 - 9 1394 c.1161G>A c.(1159-1161)agG>agA p.R387R SLC13A5_ENST00000573648.1_Silent_p.R387R|SLC13A5_ENST00000381074.4_Silent_p.R344R|SLC13A5_ENST00000293800.6_Silent_p.R370R NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 387 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 ATGGAGTTTTCCTTTCTGGGA 0.498000 9 24 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144996418 144996418 + Missense_Mutation SNP A A C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:144996418A>C ENST00000322810.4 - 32 8151 c.7982T>G c.(7981-7983)gTg>gGg p.V2661G PLEC_ENST00000345136.3_Missense_Mutation_p.V2524G|PLEC_ENST00000354589.3_Missense_Mutation_p.V2524G|PLEC_ENST00000398774.2_Missense_Mutation_p.V2492G|PLEC_ENST00000527096.1_Missense_Mutation_p.V2547G|PLEC_ENST00000354958.2_Missense_Mutation_p.V2502G|PLEC_ENST00000357649.2_Missense_Mutation_p.V2528G|PLEC_ENST00000356346.3_Missense_Mutation_p.V2510G|PLEC_ENST00000436759.2_Missense_Mutation_p.V2551G NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2661 Central fibrous rod domain. 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 TGCCTTGGCCACCTCGTCCTG 0.647000 6 7 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112541914 112541914 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:112541914G>A ENST00000341068.3 - 41 5753 c.4981C>T c.(4981-4983)Cat>Tat p.H1661Y NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1661 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TTTAAAAGATGGAGTTCTGGA 0.438000 22 40 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112187079 112187079 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:112187079C>T ENST00000455480.2 + 19 3017 c.2840C>T c.(2839-2841)cCc>cTc p.P947L ACAD10_ENST00000313698.4_Missense_Mutation_p.P916L NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 916 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 AGACTGGGCCCCGGCAGGATC 0.632000 63 21 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97270005 97270005 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:97270005G>A ENST00000599854.1 - 17 2337 c.1870C>T c.(1870-1872)Cct>Tct p.P624S KANSL3_ENST00000440133.1_Missense_Mutation_p.P531S|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000431828.1_Missense_Mutation_p.P711S|KANSL3_ENST00000487070.1_5'UTR NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 737 GAGCTGCCAGGAGATGTGGCC 0.592000 14 19 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48429461 48429461 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:48429461C>T ENST00000224605.2 - 2 690 c.425G>A c.(424-426)tGg>tAg p.W142* NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 142 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CGCTCGAGGCCACCGAGGCGG 0.627000 23 34 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 3 21 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11595677 11595677 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:11595677G>A ENST00000304391.6 + 4 569 c.451G>A c.(451-453)Gaa>Aaa p.E151K PTCHD2_ENST00000389575.3_Silent_p.E1264E|PTCHD2_ENST00000294484.6_Silent_p.E1264E Q9P2K9 PTHD2_HUMAN patched domain containing 2 33 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity p.E1481E(1) 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) TGGCTGGAGAGAACCTGCCCC 0.657000 32 18 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280471 105280471 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:105280471C>A ENST00000327674.4 - 1 914 c.579G>T c.(577-579)aaG>aaT p.K193N SERPINA7_ENST00000372563.1_Missense_Mutation_p.K193N P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 193 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) TGGTGTTTGGCTTGAGGTCTT 0.428000 4 111 1 1 1 1 0 SPNS1 83985 broad.mit.edu 37 16 28986625 28986625 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:28986625C>T ENST00000311008.11 + 1 530 c.153C>T c.(151-153)acC>acT p.T51T SPNS1_ENST00000334536.8_Silent_p.T51T|SPNS1_ENST00000565975.1_Silent_p.T96T|SPNS1_ENST00000323081.8_5'UTR|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000352260.7_Silent_p.T51T|RP11-264B17.4_ENST00000567209.1_RNA NM_032038.2 NP_114427.1 Q9H2V7 SPNS1_HUMAN spinster homolog 1 (Drosophila) 51 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 AGCGCATCACCGGCCTGTCTC 0.667000 4 4 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72299936 72299936 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:72299936C>T ENST00000334456.5 - 13 1207 c.962G>A c.(961-963)aGc>aAc p.S321N PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000544570.1_Missense_Mutation_p.S314N|PDE2A_ENST00000418754.2_Missense_Mutation_p.S206N|PDE2A_ENST00000444035.2_Missense_Mutation_p.S312N|PDE2A_ENST00000540345.1_Missense_Mutation_p.S312N NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 321 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GCCCAACATGCTCTGCAGCTG 0.597000 19 40 0 0 1 0 0 IGHA1 3493 broad.mit.edu 37 14 106174163 106174163 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:106174163G>A ENST00000390547.2 - 0 625 CTTGGACTCGGGGTAGGCAGC 0.612000 23 67 0 0 1 0 0 RARA 5914 broad.mit.edu 37 17 38512373 38512373 + Silent SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:38512373G>C ENST00000254066.5 + 9 1739 c.1284G>C c.(1282-1284)ggG>ggC p.G428G RARA_ENST00000394081.3_Silent_p.G423G|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Silent_p.G428G|RARA_ENST00000394086.3_Silent_p.G444G|RARA_ENST00000425707.3_Silent_p.G331G NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 428 apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) GACAGCCGGGGGGTGGGGGGC 0.687000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 12 4 0 0 1 0 0 SNX29P2 440352 broad.mit.edu 37 16 29370523 29370523 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:29370523C>T ENST00000398878.3 + 0 1115 SNX29P2_ENST00000507381.1_RNA AATGGAATTTCCTGGTTAATG 0.438000 3 5 0 0 1 0 0 POLR2H 5437 broad.mit.edu 37 3 184085980 184085980 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:184085980C>T ENST00000456318.1 + 6 1400 c.351C>T c.(349-351)tcC>tcT p.S117S EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000429568.1_Silent_p.L139L|POLR2H_ENST00000452961.1_Silent_p.S81S|POLR2H_ENST00000438240.1_Silent_p.S81S|POLR2H_ENST00000443489.1_Silent_p.S53S|POLR2H_ENST00000430783.1_Silent_p.S89S|POLR2H_ENST00000296223.3_Silent_p.S117S NM_001278699.1 NP_001265628.1 P52434 RPAB3_HUMAN polymerase (RNA) II (DNA directed) polypeptide H 117 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA-directed RNA polymerase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGTACGTGTCCTATGGGGGCC 0.542000 44 54 0 0 1 0 0 PON2 5445 broad.mit.edu 37 7 95039345 95039345 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:95039345G>A ENST00000536183.1 - 6 809 c.626C>T c.(625-627)cCt>cTt p.P209L PON2_ENST00000433091.2_Missense_Mutation_p.P176L|PON2_ENST00000222572.3_Missense_Mutation_p.P188L|PON2_ENST00000483292.1_5'UTR NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 188 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) CTTTAAGAAAGGATCAGAGAA 0.373000 38 55 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73076500 73076500 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:73076500G>A ENST00000545377.1 + 7 1016 c.e7-1 ARHGEF28_ENST00000513042.2_Splice_Site|CTC-575I10.1_ENST00000506717.1_RNA|ARHGEF28_ENST00000426542.2_Splice_Site|ARHGEF28_ENST00000296794.6_Splice_Site|ARHGEF28_ENST00000287898.5_Splice_Site|ARHGEF28_ENST00000437974.1_Splice_Site NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 TTGTTTCCTAGGCCTTTGAGC 0.448000 3 4 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112969645 112969645 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:112969645C>T ENST00000495514.1 + 4 1045 c.341C>T c.(340-342)gCt>gTt p.A114V BOC_ENST00000485230.1_Missense_Mutation_p.A114V|BOC_ENST00000273395.4_Missense_Mutation_p.A114V|BOC_ENST00000484034.1_Missense_Mutation_p.A114V|BOC_ENST00000355385.3_Missense_Mutation_p.A114V Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 114 Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CCTGCGGGGGCTGTGGCCAGC 0.637000 27 31 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131219 72131219 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:72131219G>A ENST00000265381.4 - 2 1130 c.908C>T c.(907-909)cCc>cTc p.P303L NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 303 Munc-18-1 binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 cggggTAGGGGGACGCTCCAG 0.756000 4 1 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99126639 99126639 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:99126639G>A ENST00000370992.4 - 27 3186 c.3075C>T c.(3073-3075)ccC>ccT p.P1025P RRP12_ENST00000315563.6_Silent_p.P925P|RRP12_ENST00000414986.1_Silent_p.P964P|RRP12_ENST00000536831.1_Silent_p.P743P|RRP12_ENST00000479481.1_5'UTR NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 1025 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) GGTACTCCTCGGGCAACAGCC 0.612000 129 53 0 0 1 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43851128 43851128 + Missense_Mutation SNP A A C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:43851128A>C ENST00000420765.1 - 29 3432 c.3250T>G c.(3250-3252)Ttt>Gtt p.F1084V PPIP5K1_ENST00000334933.4_Missense_Mutation_p.F1059V|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.F1059V|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.F1017V|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.F1017V|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.F1084V|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.F1080V|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.F1060V NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1084 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 CACCCTTCAAACCCTGTTTGA 0.493000 42 19 0 0 1 0 0 CCDC77 84318 broad.mit.edu 37 12 542364 542364 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:542364G>A ENST00000239830.4 + 9 876 c.697G>A c.(697-699)Gga>Aga p.G233R CCDC77_ENST00000412006.2_Missense_Mutation_p.G201R|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000422000.1_Missense_Mutation_p.G201R|CCDC77_ENST00000540180.1_Missense_Mutation_p.G201R NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 233 centrosome p.L232_G233insGR(2) cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) GGCTCAGCTGGGAGAGCAGAC 0.483000 64 101 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25284645 25284645 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:25284645C>T ENST00000218548.6 + 20 3162 c.2829C>T c.(2827-2829)ttC>ttT p.F943F ATP12A_ENST00000381946.3_Silent_p.F937F NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 937 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) ACACGGCTTtctttgttggca 0.493000 51 92 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31599966 31599966 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:31599966G>A ENST00000379416.3 - 14 1428 c.1380C>T c.(1378-1380)gcC>gcT p.A460A NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 460 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) TGGTTCTGTTGGCCATTCCAC 0.478000 51 60 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180348047 180348047 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:180348047G>A ENST00000410066.1 - 6 1225 c.622C>T c.(622-624)Ccc>Tcc p.P208S ZNF385B_ENST00000409692.1_Missense_Mutation_p.P106S|ZNF385B_ENST00000409343.1_Missense_Mutation_p.P132S|ZNF385B_ENST00000336917.5_Missense_Mutation_p.P106S|ZNF385B_ENST00000466398.1_5'UTR NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 208 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GAGCAGCTGGGATTAGCCTTT 0.438000 33 38 0 0 1 0 0 VWC2 375567 broad.mit.edu 37 7 49842382 49842382 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:49842382G>A ENST00000340652.3 + 3 1328 c.772G>A c.(772-774)Gag>Aag p.E258K NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 258 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 TCCCCAGACGGAGTGTGTGGA 0.567000 41 59 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149931115 149931115 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:149931115G>A ENST00000445323.2 + 16 2056 c.1935G>A c.(1933-1935)cgG>cgA p.R645R MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000370390.3_Silent_p.R637R|MTMR1_ENST00000544228.1_Silent_p.R637R|MTMR1_ENST00000541925.1_Silent_p.R543R Q13613 MTMR1_HUMAN myotubularin related protein 1 637 Poly-Ser. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GCCTACAGCGGGAGGTGGCCA 0.657000 53 26 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159033452 159033452 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:159033452T>C ENST00000368130.4 - 5 1117 c.829A>G c.(829-831)Aag>Gag p.K277E AIM2_ENST00000481829.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 277 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) ATGTTTTTCTTCTTTTCTGTT 0.398000 42 59 0 0 1 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829597 106829597 + RNA SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:106829597C>G ENST00000390616.2 - 0 396 CTGTGCCTCTCGCACAGTAAT 0.587000 98 185 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73076546 73076546 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:73076546C>T ENST00000263674.3 + 19 6012 c.5662C>T c.(5662-5664)Cca>Tca p.P1888S NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1888 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TCTCTACCATCCAGACACCTT 0.577000 19 43 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112777075 112777075 + Missense_Mutation SNP G G A rs147779020 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:112777075G>A ENST00000295408.4 + 16 2422 c.2165G>A c.(2164-2166)cGa>cAa p.R722Q MERTK_ENST00000421804.2_Missense_Mutation_p.R722Q|MERTK_ENST00000409780.1_Missense_Mutation_p.R546Q Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 722 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TTTCTTCATCGAGATTTAGCT 0.463000 67 91 0 0 1 0 0 ZNF652 22834 broad.mit.edu 37 17 47394691 47394691 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:47394691C>T ENST00000362063.2 - 2 715 c.397G>A c.(397-399)Ggg>Agg p.G133R ZNF652_ENST00000430262.2_Missense_Mutation_p.G133R NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 133 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) CCCTTTTCCCCTTTAGATACA 0.433000 51 92 0 0 1 0 0 MFSD7 84179 broad.mit.edu 37 4 676658 676658 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:676658G>A ENST00000322224.4 - 9 1486 c.1173C>T c.(1171-1173)atC>atT p.I391I MFSD7_ENST00000404286.2_Silent_p.I392I|MFSD7_ENST00000515118.1_Silent_p.I295I|MFSD7_ENST00000503156.1_Silent_p.I327I|MFSD7_ENST00000347950.5_Silent_p.I273I Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 392 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 TTGCCAGCATGATGAGTATTC 0.632000 12 9 0 0 1 0 0 ZNF627 199692 broad.mit.edu 37 19 11727605 11727605 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:11727605C>T ENST00000361113.5 + 4 495 c.287C>T c.(286-288)cCt>cTt p.P96L ZNF627_ENST00000588174.1_3'UTR NM_145295.3 NP_660338.1 Q7L945 ZN627_HUMAN zinc finger protein 627 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 AAGAAAACTCCTGGAGTAAAA 0.438000 6 139 0 0 1 0 0 ACSL6 23305 broad.mit.edu 37 5 131308459 131308459 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:131308459C>T ENST00000379264.2 - 13 1404 c.1296G>A c.(1294-1296)agG>agA p.R432R ACSL6_ENST00000357096.1_Silent_p.R332R|ACSL6_ENST00000379255.1_Silent_p.R332R|ACSL6_ENST00000379249.3_Silent_p.R407R|ACSL6_ENST00000379246.1_Silent_p.R418R|ACSL6_ENST00000379272.2_Silent_p.R422R|ACSL6_ENST00000544770.1_Silent_p.R316R|ACSL6_ENST00000543479.1_Silent_p.R407R|ACSL6_ENST00000379240.1_Silent_p.R407R|ACSL6_ENST00000431707.1_Silent_p.R387R|ACSL6_ENST00000296869.4_Silent_p.R432R|ACSL6_ENST00000379244.1_Silent_p.R407R NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 407 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TACTATCATTCCTGATGATTC 0.448000 31 88 0 0 1 0 0 PAPL 390928 broad.mit.edu 37 19 39589288 39589288 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:39589288G>A ENST00000331256.5 + 3 586 c.312G>A c.(310-312)ggG>ggA p.G104G PAPL_ENST00000594229.1_Silent_p.G104G NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 104 extracellular region acid phosphatase activity|metal ion binding TGCTGCCAGGGGTTCAGTATG 0.637000 13 36 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82434923 82434923 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:82434923C>T ENST00000370728.1 + 17 3218 c.2573C>T c.(2572-2574)tCc>tTc p.S858F LPHN2_ENST00000370723.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S845F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S858F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S858F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S858F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S845F|LPHN2_ENST00000394879.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S845F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S858F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S845F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S858F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.S858F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S783F O95490 LPHN2_HUMAN latrophilin 2 858 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATTGTCATTTCCCTTGTTTGC 0.398000 60 102 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154543971 154543971 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:154543971C>T ENST00000368476.3 + 5 936 c.672C>T c.(670-672)atC>atT p.I224I NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 224 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) ACGTGGACATCACGTATGACT 0.582000 47 84 0 0 1 0 0 OGFRL1 79627 broad.mit.edu 37 6 72011711 72011711 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:72011711C>T ENST00000370435.4 + 7 1449 c.1315C>T c.(1315-1317)Cct>Tct p.P439S RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 439 membrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 CAATGAAAATCCTGGAAATAC 0.368000 59 104 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83933329 83933329 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:83933329C>T ENST00000345382.2 - 4 759 c.674G>A c.(673-675)gGa>gAa p.G225E RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G218E NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 225 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GCTGGGGTTTCCTTTGTCCAC 0.498000 139 18 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587037 179587037 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179587037C>T ENST00000589042.1 - 77 22701 c.22477G>A c.(22477-22479)Gct>Act p.A7493T TTN_ENST00000591111.1_Missense_Mutation_p.A7176T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6249T|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7176 Ig-like 57. 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) GGGTTGGAAGCTGAGCAAGAG 0.403000 22 43 0 0 1 0 0 ODF4 146852 broad.mit.edu 37 17 8249104 8249104 + Silent SNP G G A rs138113934 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:8249104G>A ENST00000328248.2 + 3 896 c.708G>A c.(706-708)acG>acA p.T236T ODF4_ENST00000584943.1_Silent_p.T121T NM_153007.4 NP_694552.2 Q2M2E3 ODFP4_HUMAN outer dense fiber of sperm tails 4 236 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1) 8 GGGCACAGACGATCACAGACA 0.522000 49 62 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2698150 2698150 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:2698150C>T ENST00000324666.5 + 16 2815 c.2464C>T c.(2464-2466)Ctg>Ttg p.L822L FAM193A_ENST00000382839.3_Silent_p.L822L|FAM193A_ENST00000502458.1_Silent_p.L844L|FAM193A_ENST00000545951.1_Silent_p.L822L|FAM193A_ENST00000505311.1_Silent_p.L822L NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 822 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TCGCTTACGGCTGACCAAGAG 0.418000 18 54 0 0 1 0 0 OXGR1 27199 broad.mit.edu 37 13 97639852 97639852 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:97639852C>T ENST00000298440.1 - 4 405 c.162G>A c.(160-162)gtG>gtA p.V54V OXGR1_ENST00000543457.1_Silent_p.V54V NM_080818.3 NP_543008.3 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 54 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) AAGTGGATATCACTACTGCAT 0.453000 22 46 0 0 1 0 0 INO80C 125476 broad.mit.edu 37 18 33077797 33077797 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:33077797G>A ENST00000592173.1 - 1 100 c.42C>T c.(40-42)ccC>ccT p.P14P INO80C_ENST00000590757.1_Silent_p.P14P|INO80C_ENST00000441607.2_Silent_p.P14P|RP11-322E11.6_ENST00000589258.1_Silent_p.P14P|INO80C_ENST00000334598.7_Silent_p.P14P Q6PI98 IN80C_HUMAN INO80 complex subunit C 14 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1) 8 GGACTATTCCGGGAGTGGAAG 0.607000 9 7 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10914379 10914379 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:10914379G>A ENST00000298232.7 - 20 1653 c.1286C>T c.(1285-1287)tCa>tTa p.S429L TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S409L|TPTE_ENST00000361285.4_Missense_Mutation_p.S447L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 447 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TTTTCCTAATGAAATAGTGGA 0.328000 13 25 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798371 160798371 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:160798371G>A ENST00000283243.7 - 30 4516 c.4310C>T c.(4309-4311)cCt>cTt p.P1437L PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1437 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 AGGATAGTAAGGATTCCGAAA 0.393000 24 32 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29745331 29745331 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:29745331G>A ENST00000357586.2 - 11 1499 c.1313C>T c.(1312-1314)tCc>tTc p.S438F AP1B1_ENST00000402502.1_Missense_Mutation_p.S438F|AP1B1_ENST00000317368.7_Missense_Mutation_p.S438F|AP1B1_ENST00000415447.1_Missense_Mutation_p.S438F|AP1B1_ENST00000356015.2_Missense_Mutation_p.S438F|AP1B1_ENST00000432560.2_Missense_Mutation_p.S438F|AP1B1_ENST00000405198.1_Missense_Mutation_p.S438F NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 438 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 CTCATCCAGGGAGTCCAGATT 0.587000 47 64 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14190064 14190064 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:14190064G>A ENST00000285021.7 - 13 2632 c.2418C>T c.(2416-2418)ccC>ccT p.P806P XPC_ENST00000449060.2_Silent_p.P769P NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 806 DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCACGCACACGGGATGGGAGT 0.607000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 21 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134239782 134239782 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:134239782C>T ENST00000250160.6 + 5 1039 c.933C>T c.(931-933)atC>atT p.I311I WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000220856.6_Silent_p.I224I|WISP1_ENST00000377863.2_Silent_p.I139I|WISP1_ENST00000519433.1_Silent_p.I66I NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 311 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GGTGCTGCATCCCCTACAAGT 0.522000 49 71 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155654153 155654153 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:155654153C>T ENST00000496455.1 + 15 2169 c.1834C>T c.(1834-1836)Ccg>Tcg p.P612S GMPS_ENST00000295920.7_Missense_Mutation_p.P513S NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 612 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAGCCAGATGCCGGTGATTTT 0.418000 T MLL AML 29 44 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94650561 94650561 + Missense_Mutation SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:94650561T>C ENST00000260526.6 - 18 2158 c.1976A>G c.(1975-1977)cAt>cGt p.H659R ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 659 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AAGTTTCTGATGACCACAAAT 0.333000 15 46 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2473485 2473485 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:2473485G>A ENST00000258711.6 + 2 1346 c.1211G>A c.(1210-1212)gGc>gAc p.G404D NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 404 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GTTCTCTTCGGCTACCCCAAG 0.572000 56 78 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56712947 56712947 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:56712947G>A ENST00000425394.2 - 24 3677 c.3301C>T c.(3301-3303)Ctt>Ttt p.L1101F PAN2_ENST00000440411.3_Missense_Mutation_p.L1097F|PAN2_ENST00000257931.5_Missense_Mutation_p.L1100F|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000548043.1_Missense_Mutation_p.L1101F NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 1101 Exonuclease. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ACAGTGTCAAGGACTTGGTCC 0.498000 33 59 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145416847 145416847 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:145416847C>T ENST00000336751.5 + 4 1430 c.1192C>T c.(1192-1194)Ccc>Tcc p.P398S HFE2_ENST00000357836.5_Missense_Mutation_p.P285S|HFE2_ENST00000497365.1_Missense_Mutation_p.P172S|HFE2_ENST00000475797.1_Missense_Mutation_p.P172S NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 398 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCATCTCTTCCCCTCAGATGC 0.522000 39 71 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47856301 47856301 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:47856301G>A ENST00000328771.4 + 2 363 c.14G>A c.(13-15)aGa>aAa p.R5K NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 5 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCTCCTCCTAGAACAAGGGAG 0.532000 14 27 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120307135 120307135 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:120307135C>T ENST00000369406.3 - 2 268 c.219G>A c.(217-219)ctG>ctA p.L73L HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.L73L NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 73 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TATACTTCTCCAGGTCAGTTT 0.547000 43 55 0 0 1 0 0 RP11-467H10.2 0 broad.mit.edu 37 7 76681226 76681226 + RNA SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:76681226G>C ENST00000459742.1 + 0 58 TGTCACACTTGAAGGAGGCAG 0.453000 3 7 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39787157 39787157 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:39787157C>T ENST00000553728.1 + 21 3220 c.3007C>T c.(3007-3009)Cgg>Tgg p.R1003W CTAGE5_ENST00000396165.4_Missense_Mutation_p.R439W|CTAGE5_ENST00000557038.1_Missense_Mutation_p.R388W|CTAGE5_ENST00000280083.3_Missense_Mutation_p.R468W|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R468W|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R439W|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R456W|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R439W|CTAGE5_ENST00000348007.3_Missense_Mutation_p.R468W|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R393W|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R473W GTTGGCAGCTCGGAATGCTGA 0.249000 24 40 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75055760 75055760 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:75055760C>T ENST00000326665.5 - 12 1949 c.1731G>A c.(1729-1731)atG>atA p.M577I RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.M380I NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 577 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AAGCAGTTTTCATATCTACAA 0.353000 11 5 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552398 1552398 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:1552398C>T ENST00000381605.4 - 3 783 c.719G>A c.(718-720)cGt>cAt p.R240H RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 240 Ig-like C1-type 1. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGCAGTCCCACGAAGAGGGTC 0.622000 37 55 0 0 1 0 0 PEG10 23089 broad.mit.edu 37 7 94293208 94293208 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:94293208G>A ENST00000482108.1 + 2 819 c.340G>A c.(340-342)Gat>Aat p.D114N PEG10_ENST00000488574.1_Missense_Mutation_p.D114N NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 114 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TTTCTCAGTTGATCGTGTCCG 0.557000 35 40 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104667 168104667 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:168104667G>A ENST00000409195.1 + 9 6854 c.6765G>A c.(6763-6765)atG>atA p.M2255I XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M2033I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M2255I|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2080 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 ACTTTCTAATGAAAACAAATA 0.373000 35 63 0 0 1 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420715 55420715 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:55420715G>A ENST00000242994.3 + 2 870 c.492G>A c.(490-492)caG>caA p.Q164Q NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 164 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 GGCTCTCTCAGCCCACAAGCA 0.522000 33 46 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088327 17088327 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:17088327C>T ENST00000443236.1 - 15 1781 c.1750G>A c.(1750-1752)Gag>Aag p.E584K CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 537 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ACGTCGACCTCAGCTTCTGGG 0.592000 22 41 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058878 79058878 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:79058878C>T ENST00000388820.4 - 19 3585 c.3375G>A c.(3373-3375)ctG>ctA p.L1125L NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1125 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 ACCAAGGTCCCAGTACCCCCT 0.687000 15 26 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23234568 23234568 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:23234568C>T ENST00000400191.3 + 12 2277 c.2259C>T c.(2257-2259)ctC>ctT p.L753L EPHB2_ENST00000374627.1_Silent_p.L748L|EPHB2_ENST00000374630.3_Silent_p.L753L|EPHB2_ENST00000374632.3_Silent_p.L754L NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 753 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) GCAACATCCTCGTCAACAGCA 0.567000 69 32 0 0 1 0 0 SPRY1 10252 broad.mit.edu 37 4 124322916 124322916 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:124322916C>T ENST00000394339.2 + 2 510 c.170C>T c.(169-171)cCt>cTt p.P57L SPRY1_ENST00000339241.1_Missense_Mutation_p.P57L NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 57 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 ACAGAAGGGCCTTCGGTGGTG 0.433000 26 125 0 0 1 0 0 C14orf93 60686 broad.mit.edu 37 14 23457125 23457125 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:23457125C>T ENST00000299088.6 - 6 1613 c.1184G>A c.(1183-1185)aGt>aAt p.S395N C14orf93_ENST00000406429.2_Missense_Mutation_p.S395N|C14orf93_ENST00000341470.4_Missense_Mutation_p.S395N|C14orf93_ENST00000397377.1_Missense_Mutation_p.S215N|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.S395N|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.S395N NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 395 extracellular region kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) ATATCGGCGACTTCGAAGTTT 0.478000 50 62 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14190065 14190065 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:14190065G>A ENST00000285021.7 - 13 2631 c.2417C>T c.(2416-2418)cCc>cTc p.P806L XPC_ENST00000449060.2_Missense_Mutation_p.P769L NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 806 DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complex. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CACGCACACGGGATGGGAGTA 0.612000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 21 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991826 144991826 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:144991826G>A ENST00000322810.4 - 32 12743 c.12574C>T c.(12574-12576)Cct>Tct p.P4192S PLEC_ENST00000345136.3_Missense_Mutation_p.P4055S|PLEC_ENST00000354589.3_Missense_Mutation_p.P4055S|PLEC_ENST00000398774.2_Missense_Mutation_p.P4023S|PLEC_ENST00000527096.1_Missense_Mutation_p.P4078S|PLEC_ENST00000354958.2_Missense_Mutation_p.P4033S|PLEC_ENST00000357649.2_Missense_Mutation_p.P4059S|PLEC_ENST00000356346.3_Missense_Mutation_p.P4041S|PLEC_ENST00000436759.2_Missense_Mutation_p.P4082S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4192 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 CTCTCCTCAGGGTCGATGATG 0.637000 38 47 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31124988 31124988 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:31124988G>A ENST00000304166.4 + 9 889 c.600G>A c.(598-600)gcG>gcA p.A200A ADCYAP1R1_ENST00000409363.1_Silent_p.A179A|ADCYAP1R1_ENST00000396211.2_Silent_p.A200A|ADCYAP1R1_ENST00000409489.1_Silent_p.A200A NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 200 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TGCTGAGGGCGATCTCCGTCT 0.527000 54 76 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30961161 30961161 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:30961161G>A ENST00000399914.1 - 10 2043 c.1522C>T c.(1522-1524)Cac>Tac p.H508Y GRIK1_ENST00000399909.1_Missense_Mutation_p.H508Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.H523Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.H508Y|GRIK1_ENST00000327783.4_Missense_Mutation_p.H523Y|GRIK1_ENST00000399907.1_Missense_Mutation_p.H523Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.H525Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.H523Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.H525Y P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 523 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TTACTTACGTGATCTATGAGT 0.363000 25 73 0 0 1 0 0 C20orf112 140688 broad.mit.edu 37 20 31041379 31041379 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:31041379G>A ENST00000359676.5 - 4 715 c.573_splice c.e4+1 p.N191_splice C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 191 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 CGGTGCTCACGTTGAAGGCCT 0.582000 15 35 0 0 1 0 0 RPS6KB1 6198 broad.mit.edu 37 17 58009056 58009056 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:58009056C>T ENST00000225577.4 + 7 682 c.661C>T c.(661-663)Ccg>Tcg p.P221S RPS6KB1_ENST00000443572.2_Missense_Mutation_p.P198S|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.P221S|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.P168S NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2 NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 1 221 Protein kinase. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) AGACCTGAAGCCGGAGAATAT 0.383000 16 34 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39604026 39604026 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:39604026C>T ENST00000265708.4 - 19 2242 c.2139G>A c.(2137-2139)agG>agA p.R713R ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000521880.1_Silent_p.R650R|ADAM2_ENST00000379853.2_Silent_p.R557R NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 713 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCCATTTTTTCCTTTGGAAAT 0.284000 40 49 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125438296 125438296 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:125438296G>A ENST00000304820.2 + 1 982 c.888G>A c.(886-888)atG>atA p.M296I NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 ACAAAGACATGAAACGGGGCT 0.378000 11 40 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9251204 9251204 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:9251204G>A ENST00000318602.7 - 15 2157 c.1851_splice c.e15+1 p.S617_splice NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 617 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GGAACTCACCGAGGACGCCGA 0.552000 4 10 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142486217 142486217 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:142486217C>T ENST00000430863.1 - 0 1556 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GCTGAGACTTCCTTTCCAAGT 0.607000 3 8 0 0 1 0 0 KCTD7 154881 broad.mit.edu 37 7 66098385 66098385 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:66098385G>A ENST00000275532.3 + 2 452 c.268G>A c.(268-270)Gac>Aac p.D90N KCTD7_ENST00000443322.1_Missense_Mutation_p.D90N NM_001167961.2|NM_153033.4 NP_001161433.1|NP_694578.1 Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 90 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 CATCCCCACGGACTCCGAGGG 0.557000 16 39 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52822256 52822256 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:52822256G>A ENST00000252245.5 - 7 1386 c.1166C>T c.(1165-1167)tCc>tTc p.S389F RP11-1020M18.10_ENST00000548135.1_RNA NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 389 Coil 2.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TTGCAAGCTGGAACACTGTAA 0.577000 14 21 0 0 1 0 0 PDCD10 11235 broad.mit.edu 37 3 167405098 167405098 + Nonsense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:167405098C>A ENST00000392750.2 - 8 898 c.481G>T c.(481-483)Gaa>Taa p.E161* PDCD10_ENST00000497056.2_Nonsense_Mutation_p.E161*|PDCD10_ENST00000471885.1_Nonsense_Mutation_p.E161*|PDCD10_ENST00000470131.1_Nonsense_Mutation_p.E161*|PDCD10_ENST00000473645.2_Nonsense_Mutation_p.E161*|PDCD10_ENST00000487947.2_Nonsense_Mutation_p.E161*|PDCD10_ENST00000461494.1_Nonsense_Mutation_p.E161*|PDCD10_ENST00000492396.1_Nonsense_Mutation_p.E98* NM_007217.3 NP_009148.2 Q9BUL8 PDC10_HUMAN programmed cell death 10 161 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2) 12 TTTTGGTGTTCAAGTGCCTAC 0.308000 6 29 3.59834e-05 3.62694e-05 1 1 0 COL4A6 1288 broad.mit.edu 37 X 107413865 107413865 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:107413865C>T ENST00000394872.2 - 35 3701 c.3470G>A c.(3469-3471)gGa>gAa p.G1157E COL4A6_ENST00000545689.1_Missense_Mutation_p.G1156E|COL4A6_ENST00000334504.7_Missense_Mutation_p.G1156E|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1156E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1157E Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1157 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCCGGGGGATCCTAGAGGCCC 0.498000 Alport syndrome with Diffuse Leiomyomatosis 161 84 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117376191 117376191 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:117376191C>T ENST00000321322.6 - 9 2221 c.2220G>A c.(2218-2220)cgG>cgA p.R740R DSCAML1_ENST00000527706.1_Silent_p.R470R NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 680 Ig-like C2-type 8. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCTGGCGCTCCCGGCTCACGG 0.602000 35 19 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72200466 72200466 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:72200466C>T ENST00000555818.1 + 19 5356 c.5008C>T c.(5008-5010)Ctg>Ttg p.L1670L SIPA1L1_ENST00000537413.1_Silent_p.L1124L|SIPA1L1_ENST00000381232.3_Silent_p.L1649L|SIPA1L1_ENST00000358550.2_Silent_p.L1649L|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1670 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CCTGATGCCCCTGCCTGACAC 0.602000 20 59 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124824946 124824946 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:124824946G>A ENST00000356219.3 - 37 5558 c.5403C>T c.(5401-5403)tcC>tcT p.S1801S NCOR2_ENST00000429285.2_Silent_p.S1784S|NCOR2_ENST00000404121.2_Silent_p.S1355S|NCOR2_ENST00000397355.1_Silent_p.S1785S|NCOR2_ENST00000404621.1_Silent_p.S1784S|NCOR2_ENST00000405201.1_Silent_p.S1794S NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1802 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) GCTCCCGCTCGGACGAGGACG 0.622000 26 8 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34158635 34158635 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:34158635C>T ENST00000373381.4 - 25 4123 c.3947G>A c.(3946-3948)aGa>aAa p.R1316K CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R189K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1276 CUB 8. 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) CACCTCTCCTCTCACTGTCCC 0.577000 71 33 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143559619 143559619 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:143559619C>T ENST00000517894.1 + 7 2353 c.1459C>T c.(1459-1461)Cga>Tga p.R487* BAI1_ENST00000323289.5_Nonsense_Mutation_p.R487* O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 487 TSP type-1 4. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTCCCAGGGCCGACAGCAGCG 0.677000 9 21 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78318783 78318783 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:78318783G>A ENST00000582970.1 + 29 6791 c.6648G>A c.(6646-6648)cgG>cgA p.R2216R RNF213_ENST00000336301.6_Silent_p.R289R|RNF213_ENST00000508628.2_Silent_p.R2265R NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CAGAGCTTCGGAACTTTGCTC 0.502000 65 84 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69358639 69358639 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:69358639C>T ENST00000337103.4 + 2 1810 c.218C>T c.(217-219)tCa>tTa p.S73L C8orf34_ENST00000523686.1_Missense_Mutation_p.S98L|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Missense_Mutation_p.S98L|C8orf34_ENST00000518698.1_Missense_Mutation_p.S184L|C8orf34_ENST00000348340.2_Missense_Mutation_p.S98L Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 98 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CCTAAAAAATCAAAAAGTGAC 0.328000 28 43 0 0 1 0 0 MGARP 84709 broad.mit.edu 37 4 140188177 140188177 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:140188177G>A ENST00000398955.1 - 4 478 c.299C>T c.(298-300)gCg>gTg p.A100V NM_032623.3 NP_116012.2 Q8TDB4 CD049_HUMAN mitochondria-localized glutamic acid-rich protein 100 integral to membrane CTCAGTTTCCGCAACATTCTC 0.413000 4 183 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72292494 72292494 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:72292494G>A ENST00000263563.6 + 6 1019 c.751G>A c.(751-753)Gag>Aag p.E251K NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 GCATGTGACGGAGGAGGTGTA 0.627000 61 97 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18822094 18822094 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:18822094C>T ENST00000361511.4 + 14 1644 c.1150C>T c.(1150-1152)Cca>Tca p.P384S PPEF1_ENST00000359763.6_Missense_Mutation_p.P331S|PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000544635.1_Missense_Mutation_p.P319S|PPEF1_ENST00000543630.1_Intron NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 384 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) CTATTTTGGACCAGATGTTAC 0.423000 75 28 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25265186 25265186 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:25265186C>T ENST00000218548.6 + 8 1217 c.884C>T c.(883-885)gCc>gTc p.A295V ATP12A_ENST00000381946.3_Missense_Mutation_p.A289V NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 289 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GCCTCATTGGCCTCAGGAGTT 0.517000 134 70 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706415 96706415 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:96706415G>A ENST00000389672.5 + 3 730 c.692G>A c.(691-693)gGa>gAa p.G231E EPHA6_ENST00000542517.1_Missense_Mutation_p.G137E|EPHA6_ENST00000470610.2_Missense_Mutation_p.G231E NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 136 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GAGTCCCACGGAATTAAATTC 0.403000 73 156 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22784227 22784227 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:22784227C>T ENST00000600260.1 + 0 661 NR_033899.1 CATGGCTCTCCCTGAGGAAGG 0.587000 4 14 0 0 1 0 0 C12orf10 60314 broad.mit.edu 37 12 53696850 53696850 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:53696850C>T ENST00000267103.5 + 3 414 c.362C>T c.(361-363)cCt>cTt p.P121L C12orf10_ENST00000548632.1_Missense_Mutation_p.P97L|C12orf10_ENST00000549488.1_Intron NM_021640.3 NP_067653.3 Q86UA3 Q86UA3_HUMAN chromosome 12 open reading frame 10 121 cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 20 TCCCTGTCCCCTGGGAAGCCG 0.577000 79 134 0 0 1 0 0 GAL3ST2 64090 broad.mit.edu 37 2 242741287 242741287 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:242741287C>T ENST00000192314.6 + 3 342 c.211C>T c.(211-213)Ctc>Ttc p.L71F AC114730.5_ENST00000437438.1_RNA NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 71 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833) GCTCAACATCCTCTACCGCTT 0.672000 41 18 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91672026 91672026 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:91672026A>T ENST00000359028.2 + 21 5364 c.5139A>T c.(5137-5139)aaA>aaT p.K1713N AKAP9_ENST00000356239.3_Missense_Mutation_p.K1701N|AKAP9_ENST00000358100.2_Missense_Mutation_p.K1713N Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1713 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAACATTTAAAGAAAAGGAAT 0.328000 T BRAF papillary thyroid 33 53 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118187 4118187 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:4118187C>T ENST00000324333.10 - 3 1019 c.826G>A c.(826-828)Gaa>Aaa p.E276K GLIS3_ENST00000381971.3_Missense_Mutation_p.E431K NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 276 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TCCAGGCGTTCGGTCTTGAAC 0.726000 12 3 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 124999873 124999873 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:124999873G>A ENST00000431078.1 + 3 648 c.284G>A c.(283-285)gGa>gAa p.G95E NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 95 F5/8 type C. 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) GCCACGCAGGGAAGATACGGA 0.527000 10 16 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922440 17922440 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:17922440G>A ENST00000318683.6 + 3 775 c.628G>A c.(628-630)Gat>Aat p.D210N B3GNT3_ENST00000595387.1_Missense_Mutation_p.D210N NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 210 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 GCTCAACGGGGATGATGACGT 0.587000 25 38 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161042634 161042634 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:161042634C>T ENST00000368012.3 - 9 1652 c.1350G>A c.(1348-1350)acG>acA p.T450T PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Silent_p.T159T NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 450 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TCTCCCTCACCGTGGTCAGCG 0.587000 18 21 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55626539 55626539 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:55626539C>T ENST00000373965.2 - 28 3995 c.3601G>A c.(3601-3603)Gga>Aga p.G1201R PCDH15_ENST00000395433.1_Missense_Mutation_p.G1172R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1194R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1123R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1157R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1194R|PCDH15_ENST00000395430.1_Missense_Mutation_p.G1194R|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Missense_Mutation_p.G805R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1201R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1194R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1199R|PCDH15_ENST00000395440.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1194 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.G1199*(2)|p.G1194*(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACTACAAATCCTTCTTTTCCC 0.378000 HNSCC(58;0.16) 33 63 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413644 61413644 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:61413644G>A ENST00000395348.3 - 5 1776 c.1140C>T c.(1138-1140)atC>atT p.I380I SLC16A9_ENST00000395347.1_Silent_p.I380I NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 380 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 GGCCCATGATGATTAAGGTAG 0.418000 58 76 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712147 121712147 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:121712147C>T ENST00000273691.3 - 6 1422 c.1317G>A c.(1315-1317)gaG>gaA p.E439E ILDR1_ENST00000393631.1_Silent_p.E394E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.E451E|ILDR1_ENST00000344209.5_Silent_p.E483E NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 483 Arg-rich. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) TCTCCTTGTCCTCTTCAGAGC 0.682000 18 24 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115783140 115783140 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:115783140G>A ENST00000343348.6 - 19 3049 c.2262C>T c.(2260-2262)gcC>gcT p.A754A SEMA6A_ENST00000513137.1_Silent_p.A181A|SEMA6A_ENST00000257414.8_Silent_p.A771A|SEMA6A_ENST00000510263.1_Silent_p.A754A|SEMA6A_ENST00000282394.6_Silent_p.A231A|SEMA6A_ENST00000503865.1_Silent_p.A133A NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 754 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GGGTGGGGAGGGCCGTCAGGT 0.632000 106 222 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215916588 215916588 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:215916588G>A ENST00000366943.2 - 59 11865 c.11479C>T c.(11479-11481)Caa>Taa p.Q3827* USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q3827* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3827 Fibronectin type-III 23. 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) AGGGTGGATTGATGATGACCA 0.438000 HNSCC(13;0.011) 65 62 0 0 1 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171832 68171832 + Missense_Mutation SNP C C T rs104894578 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:68171832C>T ENST00000243457.3 + 2 1035 c.652C>T c.(652-654)Cgg>Tgg p.R218W KCNJ2_ENST00000535240.1_Missense_Mutation_p.R218W NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 218 R -> W (in LQT7; loss of function and dominant-negative effect in current). 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) GGGCAATCTTCGGAAAAGCCA 0.468000 39 39 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9407499 9407499 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:9407499G>A ENST00000591998.1 - 6 809 c.581C>T c.(580-582)tCc>tTc p.S194F ZNF699_ENST00000308650.3_Missense_Mutation_p.S194F Q32M78 ZN699_HUMAN zinc finger protein 699 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCATTCACAGGATTTTACTTC 0.403000 42 99 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359217 64359217 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:64359217C>T ENST00000377574.1 + 1 936 c.189C>T c.(187-189)atC>atT p.I63I SLC22A12_ENST00000336464.7_Silent_p.I63I|SLC22A12_ENST00000377572.1_Silent_p.I63I|SLC22A12_ENST00000377567.2_Silent_p.I63I|SLC22A12_ENST00000473690.1_5'UTR NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 63 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 AGGCCAGCATCCTAGGGAGCT 0.682000 33 31 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45454088 45454088 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:45454088C>T ENST00000321429.4 + 31 4416 c.4009C>T c.(4009-4011)Cgg>Tgg p.R1337W CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1337W|DUOX1_ENST00000561166.1_Missense_Mutation_p.R983W NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 1337 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CCTGCACATCCGGGCAGCAGG 0.642000 30 16 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722321 64722321 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:64722321C>T ENST00000338957.4 + 5 1810 c.1743C>T c.(1741-1743)ctC>ctT p.L581L ZC3H12B_ENST00000423889.3_Silent_p.L570L NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 570 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATCCTAACCTCTGTTCTGACA 0.468000 14 3 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78318782 78318782 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:78318782G>T ENST00000582970.1 + 29 6790 c.6647G>T c.(6646-6648)cGg>cTg p.R2216L RNF213_ENST00000336301.6_Missense_Mutation_p.R289L|RNF213_ENST00000508628.2_Missense_Mutation_p.R2265L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TCAGAGCTTCGGAACTTTGCT 0.502000 64 84 6.20203e-27 6.39252e-27 1 1 0 FRY 10129 broad.mit.edu 37 13 32676119 32676119 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:32676119C>T ENST00000380250.3 + 3 786 c.290C>T c.(289-291)tCt>tTt p.S97F NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 97 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) TTGACAAAATCTCTGCAACGT 0.328000 39 49 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228846444 228846444 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:228846444C>T ENST00000392056.3 - 12 5138 c.5092G>A c.(5092-5094)Gaa>Aaa p.E1698K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1669K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1698 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) TATCCCAGTTCCAAGAGCCAG 0.428000 37 51 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123451944 123451944 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:123451944C>T ENST00000360772.3 - 12 1693 c.1315G>A c.(1315-1317)Ggg>Agg p.G439R MYLK_ENST00000359169.1_Missense_Mutation_p.G439R|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.G439R|MYLK_ENST00000475616.1_Missense_Mutation_p.G439R Q15746 MYLK_HUMAN myosin light chain kinase 439 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TTTGGAATCCCGGAAACTACA 0.562000 7 15 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50293694 50293694 + Missense_Mutation SNP C C T rs137853226 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:50293694C>T ENST00000313601.6 + 5 919 c.535C>T c.(535-537)Cgc>Tgc p.R179C GNAI2_ENST00000536647.1_Missense_Mutation_p.R98C|GNAI2_ENST00000440628.1_Missense_Mutation_p.R127C|GNAI2_ENST00000266027.5_Missense_Mutation_p.R163C|GNAI2_ENST00000422163.1_Missense_Mutation_p.R163C|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Missense_Mutation_p.R142C NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 179 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) GCTACGGACCCGCGTAAAGAC 0.592000 37 40 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34059678 34059678 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:34059678G>A ENST00000374181.3 - 2 887 c.718C>T c.(718-720)Cag>Tag p.Q240* GRM4_ENST00000455714.2_Nonsense_Mutation_p.Q100*|GRM4_ENST00000535756.1_Nonsense_Mutation_p.Q107*|GRM4_ENST00000538487.1_Nonsense_Mutation_p.Q240*|GRM4_ENST00000374177.3_Nonsense_Mutation_p.Q171*|GRM4_ENST00000544773.1_Nonsense_Mutation_p.Q71* NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 240 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CGGGACTTCTGGATGAAGGCC 0.637000 13 24 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144893367 144893367 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:144893367G>A ENST00000356994.2 - 10 1061 c.1055C>T c.(1054-1056)cCa>cTa p.P352L SCRIB_ENST00000320476.3_Missense_Mutation_p.P352L|SCRIB_ENST00000377533.3_Missense_Mutation_p.P271L NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 352 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGCCAGCTCTGGTGGCAGGAC 0.701000 9 21 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175832 140175832 + Missense_Mutation SNP G G A rs148429256 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140175832G>A ENST00000526136.1 + 1 1283 c.1283G>A c.(1282-1284)cGg>cAg p.R428Q PCDHA2_ENST00000520672.2_Missense_Mutation_p.R428Q|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R428Q NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGACCGCACGGGACGGGGGC 0.627000 128 122 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62290459 62290459 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:62290459G>A ENST00000378024.4 - 5 11704 c.11430C>T c.(11428-11430)ccC>ccT p.P3810P AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3810 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) TGCTGAACTTGGGCATTTTCA 0.522000 171 314 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695273 247695273 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:247695273C>T ENST00000366487.3 - 2 902 c.541G>A c.(541-543)Gag>Aag p.E181K GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 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;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGGGGCATCTCGCAAAAGAAG 0.567000 22 17 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103173935 103173935 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:103173935C>T ENST00000375735.2 + 76 11353 c.11209C>T c.(11209-11211)Ctt>Ttt p.L3737F DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3744F|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3737 AAA 6 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTCTCAGGAACTTCAAGAACT 0.418000 18 39 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168115737 168115737 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:168115737A>T ENST00000409728.1 + 11 2869 c.2780A>T c.(2779-2781)aAt>aTt p.N927I XIRP2_ENST00000409756.2_Missense_Mutation_p.N894I|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.N894I|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.N672I|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.N927I NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 GCCCGCAATAATGAAAACACA 0.423000 58 75 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339891 55339891 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:55339891G>A ENST00000314634.3 + 1 288 c.288G>A c.(286-288)atG>atA p.M96I NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) GCGAGTGCATGATCCAAGTCT 0.468000 89 177 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201081319 201081319 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:201081319C>T ENST00000362061.3 - 1 375 c.149G>A c.(148-150)tGg>tAg p.W50* CACNA1S_ENST00000367338.3_Nonsense_Mutation_p.W50* NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 50 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGGATACTTCCATTCTACAAT 0.607000 31 39 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34180931 34180931 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:34180931A>T ENST00000435224.2 - 14 3033 c.2609T>A c.(2608-2610)tTc>tAc p.F870Y ABTB2_ENST00000298992.2_Missense_Mutation_p.F684Y NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 684 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) TAGTGTCTTGAACCTGGAGCA 0.488000 17 43 0 0 1 0 0 CCDC61 729440 broad.mit.edu 37 19 46498701 46498701 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:46498701C>T ENST00000263284.2 + 2 99 c.99C>T c.(97-99)tcC>tcT p.S33S coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) ACGCCGGATCCTGGGGCGGGG 0.622000 7 14 0 0 1 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99217285 99217285 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:99217285C>T ENST00000394152.2 + 4 383 c.56C>T c.(55-57)cCt>cTt p.P19L ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P19L|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.P19L NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 TTGGGTATTCCTGTGGTGAAA 0.537000 98 151 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52858225 52858225 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:52858225G>A ENST00000266041.4 - 9 1248 c.1152C>T c.(1150-1152)acC>acT p.T384T ITIH4_ENST00000406595.1_Silent_p.T384T|ITIH4_ENST00000485816.1_Silent_p.T384T|ITIH4_ENST00000346281.5_Silent_p.T384T|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Silent_p.T296T NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 384 VWFA. 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) GGTCGCCATCGGTGAGCAGGA 0.632000 57 61 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40104657 40104657 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:40104657C>T ENST00000261435.6 + 4 1608 c.1192C>T c.(1192-1194)Cca>Tca p.P398S NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 398 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 CTACACATTTCCACCCTCAGT 0.428000 26 78 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135490920 135490920 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:135490920C>T ENST00000429442.2 - 16 3535 c.3391G>A c.(3391-3393)Gga>Aga p.G1131R ZFAT_ENST00000520356.1_Silent_p.Q1081Q|ZFAT_ENST00000520214.1_Silent_p.Q1167Q|ZFAT_ENST00000520727.1_Silent_p.Q1167Q|ZFAT_ENST00000377838.3_Silent_p.Q1179Q|ZFAT_ENST00000523399.1_Silent_p.Q1117Q Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 1143 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GGACCGTCTCCTGGATCATGA 0.637000 4 7 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75980210 75980210 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:75980210C>T ENST00000308508.5 - 3 3288 c.3196G>A c.(3196-3198)Ggc>Agc p.G1066S NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1066 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 ACGATACTGCCAAAGAGGAGG 0.627000 81 22 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46782007 46782007 + Missense_Mutation SNP G G T rs116998681 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:46782007G>T ENST00000394809.4 - 1 214 c.99C>A c.(97-99)aaC>aaA p.N33K MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 33 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) CCACCTTCTCGTTCAGCATGT 0.582000 50 31 1.0442e-30 1.07919e-30 1 1 0 OSBPL3 26031 broad.mit.edu 37 7 24932042 24932042 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:24932042G>A ENST00000313367.2 - 2 501 c.50C>T c.(49-51)cCt>cTt p.P17L OSBPL3_ENST00000353930.1_Missense_Mutation_p.P17L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P17L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P17L|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P17L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P17L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P17L NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 17 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GCTCCTTGAAGGTGATACCAA 0.418000 31 38 0 0 1 0 0 RGL2 5863 broad.mit.edu 37 6 33263166 33263166 + Missense_Mutation SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:33263166A>T ENST00000497454.1 - 8 1549 c.1054T>A c.(1054-1056)Tat>Aat p.Y352N RGL2_ENST00000444031.2_Missense_Mutation_p.Y270N|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 352 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 ACCACGGCATAAACTGAAGAG 0.607000 7 8 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26423293 26423293 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:26423293C>T ENST00000466808.2 + 0 212 TCTCAGTTCTCCCCTGCAGTG 0.537000 42 59 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111857905 111857905 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:111857905G>A ENST00000369740.1 + 6 431 c.328G>A c.(328-330)Gtt>Att p.V110I CHIA_ENST00000483391.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.V110I|CHIA_ENST00000430615.1_Missense_Mutation_p.V2I|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000353665.6_Intron NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 110 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) CACTGCCATGGTTTCTACTCC 0.517000 108 145 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475301 120475301 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:120475301G>A ENST00000355622.6 + 3 996 c.895G>A c.(895-897)Gat>Aat p.D299N TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D259N NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 299 D -> G (in allele TLR4*B; reduced LPS- response; associated with an increased risk for ARMD10 in Caucasian patients carriers; dbSNP:rs4986790). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CTACCTCGATGATATTATTGA 0.348000 29 70 0 0 1 0 0 EFNB1 1947 broad.mit.edu 37 X 68060446 68060446 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:68060446C>T ENST00000204961.4 + 5 1770 c.990C>T c.(988-990)atC>atT p.I330I NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 330 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 CTGTCTACATCGTCCAAGAGA 0.617000 20 4 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181701793 181701793 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:181701793G>A ENST00000526775.1 + 19 2679 c.2514G>A c.(2512-2514)aaG>aaA p.K838K CACNA1E_ENST00000367573.2_Silent_p.K857K|CACNA1E_ENST00000357570.5_Silent_p.K808K|CACNA1E_ENST00000358338.5_Silent_p.K789K|CACNA1E_ENST00000360108.3_Silent_p.K838K|CACNA1E_ENST00000367570.1_Silent_p.K857K|CACNA1E_ENST00000367567.4_Silent_p.K464K NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 857 LAL -> WP (in Ref. 1; AAA72125). 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 GGTCCCTCAAGGGGGATGGAG 0.677000 5 8 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5485360 5485360 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:5485360G>A ENST00000345221.3 - 3 1025 c.471C>T c.(469-471)taC>taT p.Y157Y NLRP1_ENST00000269280.4_Silent_p.Y157Y|NLRP1_ENST00000354411.3_Silent_p.Y157Y|NLRP1_ENST00000262467.5_Silent_p.Y157Y|NLRP1_ENST00000577119.1_Silent_p.Y157Y|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Silent_p.Y157Y NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 157 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GAAGAGCTTGGTAGAGGAGTG 0.483000 13 20 0 0 1 0 0 PPT1 5538 broad.mit.edu 37 1 40544325 40544325 + Silent SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:40544325G>T ENST00000433473.3 - 7 1097 c.633C>A c.(631-633)atC>atA p.I211I PPT1_ENST00000530076.1_5'UTR|PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000449045.2_Silent_p.I108I NM_000310.3 NP_000301.1 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 211 brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGGACTCATTGATACCCTGAA 0.478000 38 22 8.73648e-17 8.97239e-17 1 1 0 EPHA6 285220 broad.mit.edu 37 3 96706414 96706414 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:96706414G>A ENST00000389672.5 + 3 729 c.691G>A c.(691-693)Gga>Aga p.G231R EPHA6_ENST00000542517.1_Missense_Mutation_p.G137R|EPHA6_ENST00000470610.2_Missense_Mutation_p.G231R NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 136 integral to plasma membrane ATP binding|ephrin receptor activity p.G137*(2)|p.G231*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGAGTCCCACGGAATTAAATT 0.398000 71 155 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35993912 35993912 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:35993912G>A ENST00000297866.5 + 15 2661 c.2595G>A c.(2593-2595)atG>atA p.M865I NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 865 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 GCTTCTTCATGAAAACATGTT 0.438000 83 39 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76957851 76957851 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:76957851C>T ENST00000380887.2 + 6 921 c.849C>T c.(847-849)atC>atT p.I283I ESRRB_ENST00000261532.7_Silent_p.I283I|ESRRB_ENST00000556177.1_Silent_p.I283I|ESRRB_ENST00000509242.1_Silent_p.I283I A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 283 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) GGATGGAAATCCTCATCCTGG 0.622000 11 12 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205027704 205027704 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:205027704G>A ENST00000331830.4 + 5 684 c.400G>A c.(400-402)Gaa>Aaa p.E134K NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 134 Ig-like C2-type 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGTTCTGCAGGAATTCTCCAA 0.602000 25 37 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149227929 149227929 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:149227929C>T ENST00000407073.1 + 9 3414 c.2417C>T c.(2416-2418)tCc>tTc p.S806F MBD5_ENST00000404807.1_Missense_Mutation_p.S806F NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 806 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) TTAGGAAATTCCTTACATCCC 0.458000 71 85 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56249692 56249692 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:56249692C>T ENST00000332836.2 - 1 76 c.49G>A c.(49-51)Gag>Aag p.E17K NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 17 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TTTCTGAGCTCCTTCAGATAC 0.448000 100 109 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3446640 3446640 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:3446640C>T ENST00000382774.3 + 8 1051 c.936C>T c.(934-936)tcC>tcT p.S312S HGFAC_ENST00000511533.1_Silent_p.S312S NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 312 Kringle. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTGGAACTCCGATCTGCTCT 0.701000 11 5 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211109 59211109 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:59211109C>T ENST00000302030.2 + 1 493 c.468C>T c.(466-468)ttC>ttT p.F156F NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TTGGTGGCTTCCTGAGCTCCC 0.562000 161 248 0 0 1 0 0 KIAA1279 26128 broad.mit.edu 37 10 70748821 70748821 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:70748821C>T ENST00000361983.4 + 1 335 c.233C>T c.(232-234)gCt>gTt p.A78V NM_015634.3 NP_056449.1 Q96EK5 KBP_HUMAN KIAA1279 78 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 14 GGGCTGCCGGCTGAGGTGGTG 0.721000 48 40 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150275209 150275209 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:150275209G>A ENST00000446148.2 - 7 2067 c.1640C>T c.(1639-1641)tCt>tTt p.S547F ZNF300_ENST00000394226.2_Missense_Mutation_p.S531F|ZNF300_ENST00000418587.2_Missense_Mutation_p.S495F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.S531F NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 531 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGACTTCTGAGAGAAGGCTTT 0.448000 21 44 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 78 0 0 1 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48198166 48198166 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:48198166G>A ENST00000396720.3 + 9 3099 c.2905G>A c.(2905-2907)Gga>Aga p.G969R CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 969 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GGTGCCGTCCGGAATCATCCT 0.682000 15 32 0 0 1 0 0 P2RY14 9934 broad.mit.edu 37 3 150931682 150931682 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:150931682C>T ENST00000309170.3 - 3 735 c.423G>A c.(421-423)ctG>ctA p.L141L MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.L141L|MED12L_ENST00000474524.1_Intron NM_001081455.1|NM_014879.3 NP_001074924.1|NP_055694.3 Q15391 P2Y14_HUMAN purinergic receptor P2Y, G-protein coupled, 14 141 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTATCACTGACAGAAGTTTGC 0.388000 28 53 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560610 44560610 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:44560610G>A ENST00000332567.4 - 1 1378 c.1026C>T c.(1024-1026)aaC>aaT p.N342N KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 342 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCTCTCGGTCGTTGGAAAGCT 0.577000 45 25 0 0 1 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142119896 142119896 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:142119896C>T ENST00000390377.1 - 0 270 GAGATGGATCCCTCAGGCCTC 0.567000 38 55 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981790 201981790 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:201981790G>A ENST00000359651.3 + 4 3693 c.501G>A c.(499-501)caG>caA p.Q167Q ELF3_ENST00000367283.3_Silent_p.Q167Q|ELF3_ENST00000367284.5_Silent_p.Q167Q|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 167 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CCTTTGCCCAGGAGCTGCTGG 0.667000 38 64 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220501064 220501064 + Silent SNP C C T rs113725667 byFrequency TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:220501064C>T ENST00000358055.3 + 15 2744 c.2232C>T c.(2230-2232)atC>atT p.I744I SLC4A3_ENST00000317151.3_Silent_p.I744I|SLC4A3_ENST00000273063.6_Silent_p.I771I|SLC4A3_ENST00000373760.2_Silent_p.I744I|SLC4A3_ENST00000373762.3_Silent_p.I771I P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 744 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCGAGCTGATCGTGTCCACCG 0.612000 65 97 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14024388 14024388 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:14024388G>A ENST00000318003.7 + 6 926 c.685G>A c.(685-687)Gag>Aag p.E229K CC2D1A_ENST00000589606.1_Missense_Mutation_p.E229K NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 229 Pro-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGTCACCCTGGAGGGACCTTC 0.677000 27 34 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50131271 50131271 + Missense_Mutation SNP T T G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:50131271T>G ENST00000347869.3 + 4 477 c.302T>G c.(301-303)aTg>aGg p.M101R RBM5_ENST00000469838.1_Missense_Mutation_p.M101R NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 101 RRM 1. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AAGACCATCATGCTGCGCGGC 0.498000 55 77 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36909302 36909302 + Silent SNP A A T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:36909302A>T ENST00000451493.1 - 2 883 c.666T>A c.(664-666)atT>atA p.I222I SPG20_ENST00000494062.2_Silent_p.I222I|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Silent_p.I222I|SPG20_ENST00000355182.4_Silent_p.I222I NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 222 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTGGTATCAAAATCAATTCAT 0.433000 36 98 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51225337 51225337 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:51225337T>A ENST00000245441.5 - 18 2601 c.2411A>T c.(2410-2412)gAa>gTa p.E804V NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.E804V|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.E804V|NIN_ENST00000324330.9_Missense_Mutation_p.E804V|NIN_ENST00000453196.1_Missense_Mutation_p.E804V NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 804 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) ACACTCTGTTTCCATTTTTTC 0.423000 T PDGFRB MPD 19 34 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19937298 19937298 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:19937298G>A ENST00000255006.6 + 4 494 c.345G>A c.(343-345)gaG>gaA p.E115E RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.E66E NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 66 SH2. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CCGAGGAAGAGGACGTGAAGA 0.572000 11 17 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39522860 39522860 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:39522860G>A ENST00000251646.3 - 3 499 c.450C>T c.(448-450)tcC>tcT p.S150S NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 150 Coil 1B.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) GCTGCCGCAGGGACTGCTCCG 0.547000 40 52 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486604 36486604 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:36486604C>T ENST00000342292.4 - 11 2868 c.2848G>A c.(2848-2850)Gag>Aag p.E950K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 950 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) ATCCTTGGCTCTCCCAGGCCC 0.632000 10 10 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35631824 35631824 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:35631824G>A ENST00000287272.2 + 15 2299 c.2279G>A c.(2278-2280)cGa>cAa p.R760Q UNC5D_ENST00000453357.2_Missense_Mutation_p.R824Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.R405Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.R762Q|UNC5D_ENST00000404895.2_Missense_Mutation_p.R829Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.R834Q Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 829 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TAGAGTGAACGAGAAACCATC 0.423000 36 21 0 0 1 0 0 PPP1R14D 54866 broad.mit.edu 37 15 41120747 41120747 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:41120747C>T ENST00000299174.5 - 1 160 c.93G>A c.(91-93)agG>agA p.R31R PPP1R14D_ENST00000427255.2_Silent_p.R31R NM_017726.7 NP_060196.1 Q9NXH3 PP14D_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14D 31 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity breast(1)|large_intestine(2)|lung(2)|skin(1) 6 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TGGATGATGTCCTTCTCCTCC 0.582000 37 20 0 0 1 0 0 CXorf65 158830 broad.mit.edu 37 X 70325935 70325935 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:70325935C>T ENST00000374251.4 - 3 212 c.165G>A c.(163-165)atG>atA p.M55I CXorf65_ENST00000485951.1_5'UTR A6NEN9 CX065_HUMAN chromosome X open reading frame 65 55 breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3) 10 GATTGGGCTTCATCAGGAAAA 0.498000 42 10 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72110207 72110207 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:72110207G>A ENST00000540303.2 + 5 306 c.274G>A c.(274-276)Ggg>Agg p.G92R HPR_ENST00000228226.8_Missense_Mutation_p.G129R|HPR_ENST00000561690.1_Missense_Mutation_p.G92R|HPR_ENST00000356967.5_Missense_Mutation_p.G92R NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 92 proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) GACAGTATGTGGGAAGCCCAA 0.547000 10 5 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130270437 130270437 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:130270437G>A ENST00000373312.3 - 12 1690 c.1477C>T c.(1477-1479)Cgg>Tgg p.R493W FAM129B_ENST00000373314.3_Missense_Mutation_p.R480W|FAM129B_ENST00000468379.1_Intron NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 493 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 AGCGCCTCCCGGAAGAACCTC 0.632000 57 72 0 0 1 0 0 PRSS45 377047 broad.mit.edu 37 3 46784427 46784427 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:46784427G>A ENST00000442359.2 - 3 428 c.429C>T c.(427-429)acC>acT p.T143T PRSS50_ENST00000460241.1_Intron NM_199183.2 NP_954652.2 Q7RTY3 PRS45_HUMAN protease, serine, 45 175 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 CCCCATAATTGGTGGCACAGA 0.542000 17 15 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209782415 209782415 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:209782415C>T ENST00000009105.1 + 8 971 c.726C>T c.(724-726)ttC>ttT p.F242F CAMK1G_ENST00000361322.2_Silent_p.F242F|CAMK1G_ENST00000494990.1_3'UTR Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 242 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) AGTCTCCATTCTGGGATGACA 0.478000 61 118 0 0 1 0 0 METRNL 284207 broad.mit.edu 37 17 81042985 81042985 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:81042985C>T ENST00000571814.1 + 1 1037 c.96C>T c.(94-96)tcC>tcT p.S32S METRNL_ENST00000320095.7_Silent_p.S114S|METRNL_ENST00000570778.1_Silent_p.S32S Q641Q3 METRL_HUMAN meteorin, glial cell differentiation regulator-like 114 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TCACGGACTCCTCGGGGGCCA 0.592000 34 71 0 0 1 0 0 ASNA1 439 broad.mit.edu 37 19 12856446 12856446 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:12856446C>T ENST00000591090.1 + 5 584 c.482C>T c.(481-483)tCg>tTg p.S161L ASNA1_ENST00000357332.3_Missense_Mutation_p.S161L O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) 161 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding endometrium(1)|lung(6)|ovary(3) 10 Adenosine triphosphate(DB00171) ATGAACTTCTCGGTGGTGGTA 0.657000 51 50 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122631187 122631187 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:122631187G>A ENST00000195173.4 - 19 3028 c.2725C>T c.(2725-2727)Cgg>Tgg p.R909W SEMA5B_ENST00000451055.2_Missense_Mutation_p.R964W|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R910W Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 910 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) CAAGCACCCCGAACTGCAAGG 0.647000 10 10 0 0 1 0 0 NXPH2 11249 broad.mit.edu 37 2 139428746 139428746 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:139428746C>T ENST00000272641.3 - 2 647 c.541G>A c.(541-543)Gaa>Aaa p.E181K NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 181 V (Cys-rich). neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) GATTTGGATTCCTTGGTCTCC 0.473000 14 25 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118377096 118377096 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:118377096G>A ENST00000534358.1 + 27 10512 c.10489G>A c.(10489-10491)Gga>Aga p.G3497R KMT2A_ENST00000354520.4_Missense_Mutation_p.G3456R|KMT2A_ENST00000389506.5_Missense_Mutation_p.G3494R NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TAATAGCATGGGACTGGAGCA 0.542000 65 34 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128341804 128341804 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:128341804G>A ENST00000389524.4 + 13 1504 c.1451G>A c.(1450-1452)tGg>tAg p.W484* MYO7B_ENST00000428314.1_Nonsense_Mutation_p.W484*|MYO7B_ENST00000409816.2_Nonsense_Mutation_p.W484* Q6PIF6 MYO7B_HUMAN myosin VIIB 484 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AACATCTCCTGGGACTATATC 0.577000 36 44 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37785448 37785448 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:37785448G>A ENST00000264741.5 + 22 2612 c.2356G>A c.(2356-2358)Gag>Aag p.E786K NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 786 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TGTATATGGCGAGTCCGTGGA 0.512000 33 41 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45860758 45860758 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:45860758G>A ENST00000397928.1 + 31 4801 c.4356G>A c.(4354-4356)caG>caA p.Q1452Q TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.Q1398Q|TRPM2_ENST00000300482.5_Silent_p.Q1452Q|TRPM2_ENST00000397932.2_Silent_p.Q1502Q NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1452 Nudix hydrolase. 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 TCCAGGACCAGAATGACGTGG 0.632000 44 93 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054860 29054860 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:29054860G>A ENST00000377173.2 - 1 230 c.166C>T c.(166-168)Cat>Tat p.H56Y NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 ATGGGAGTATGAAGTTTGGGA 0.393000 50 106 0 0 1 0 0 SPATA6 54558 broad.mit.edu 37 1 48764537 48764537 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:48764537G>A ENST00000371847.3 - 13 1479 c.1315C>T c.(1315-1317)Cat>Tat p.H439Y SPATA6_ENST00000396199.3_Missense_Mutation_p.H367Y|SPATA6_ENST00000371843.3_Missense_Mutation_p.H423Y NM_019073.2 NP_061946.1 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 439 cell differentiation|multicellular organismal development|spermatogenesis extracellular region breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TCATCCAAATGGAAAGTGCCA 0.398000 65 94 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97216948 97216948 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:97216948C>T ENST00000454558.2 + 7 1656 c.479C>T c.(478-480)tCc>tTc p.S160F ARID5A_ENST00000357485.3_Missense_Mutation_p.S228F Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 228 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 TCTTCTGTGTCCTTTGTGGGT 0.597000 39 66 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83839352 83839352 + Missense_Mutation SNP A A G rs140616270 byFrequency TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:83839352A>G ENST00000302236.5 + 5 2038 c.1987A>G c.(1987-1989)Att>Gtt p.I663V LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 663 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) TGACATTTCAATTGCTCGAAG 0.398000 31 74 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2582822 2582822 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:2582822C>T ENST00000358864.1 + 11 1303 c.1288C>T c.(1288-1290)Cgt>Tgt p.R430C TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 430 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AAGATTTCTTCGTGTCCTGGC 0.388000 37 46 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190250829 190250829 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:190250829G>A ENST00000367462.3 - 3 519 c.288C>T c.(286-288)ttC>ttT p.F96F RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 96 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GAGAGCCAAGGAAATTTCTTC 0.403000 27 51 0 0 1 0 0 OR6C75 390323 broad.mit.edu 37 12 55758928 55758928 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:55758928C>T ENST00000343399.3 + 1 34 c.34C>T c.(34-36)Ctt>Ttt p.L12F NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 AGACTTTATTCTTCTTGGATT 0.343000 79 118 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6191021 6191021 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:6191021G>A ENST00000530810.1 - 1 617 c.536C>T c.(535-537)tCc>tTc p.S179F RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCACAGTAGGAGTGAGGAAC 0.488000 11 30 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7749462 7749462 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:7749462C>T ENST00000254846.5 + 6 692 c.303C>T c.(301-303)ctC>ctT p.L101L KDM6B_ENST00000448097.2_Silent_p.L101L NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 101 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 AGGCATTGCTCCGGGAGCCAG 0.637000 12 26 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36763662 36763662 + Missense_Mutation SNP G G A rs142388741 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:36763662G>A ENST00000431169.1 - 1 392 c.92C>T c.(91-93)tCc>tTc p.S31F AOAH_ENST00000258749.5_Missense_Mutation_p.S31F|AOAH_ENST00000535891.1_Missense_Mutation_p.S31F NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 31 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GCTGGGCCTGGACTGGTCATC 0.493000 24 28 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17468991 17468991 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:17468991G>A ENST00000400588.1 - 3 652 c.545C>T c.(544-546)tCc>tTc p.S182F GAB4_ENST00000523144.1_Intron NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 182 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) GTGCTGATGGGAGCAGCTGGG 0.602000 22 41 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132290185 132290185 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:132290185G>A ENST00000331898.7 - 7 1518 c.940C>T c.(940-942)Cct>Tct p.P314S OPCML_ENST00000524381.1_Missense_Mutation_p.P307S|OPCML_ENST00000541867.1_Missense_Mutation_p.P323S|OPCML_ENST00000374778.4_Missense_Mutation_p.P273S|OPCML_ENST00000529038.1_5'UTR NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 314 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) ACTGCTCCAGGCCCTGTGTAG 0.502000 33 32 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178392334 178392334 + Missense_Mutation SNP T T G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:178392334T>G ENST00000320129.3 + 5 1232 c.929T>G c.(928-930)gTg>gGg p.V310G ZNF454_ENST00000519564.1_Missense_Mutation_p.V310G NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) AAAGCCTTTGTGTGCAGGGCA 0.378000 21 68 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51914469 51914469 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:51914469C>T ENST00000353836.5 - 10 1914 c.1693G>A c.(1693-1695)Gag>Aag p.E565K SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E507K|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E602K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E517K|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E482K|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E660K|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.E660K|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E417K|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E475K 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 10 660 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) TCTTGGCTCTCCTGGGATTCT 0.562000 91 116 0 0 1 0 0 NKD2 85409 broad.mit.edu 37 5 1033572 1033572 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:1033572C>T ENST00000296849.5 + 5 517 c.288C>T c.(286-288)cgC>cgT p.R96R NKD2_ENST00000537972.1_Silent_p.R96R|NKD2_ENST00000274150.4_Silent_p.R96R NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 96 Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) CAGCAAACCGCGAGGGCCCGC 0.692000 5 12 0 0 1 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114098849 114098849 + Silent SNP G G A rs138609269 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:114098849G>A ENST00000356501.4 - 2 199 c.24C>T c.(22-24)atC>atT p.I8I ADPRHL1_ENST00000375418.3_Silent_p.I90I NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 90 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) GCTTCTCAACGATTTCCACAT 0.547000 84 202 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70205419 70205419 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:70205419G>A ENST00000269503.4 - 5 1440 c.667C>T c.(667-669)Cct>Tct p.P223S CBLN2_ENST00000585159.1_Missense_Mutation_p.P223S|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000581073.1_Missense_Mutation_p.P109S|CBLN2_ENST00000584764.1_Missense_Mutation_p.P107S NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 223 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GTTTATAGAGGAAACACCAAG 0.507000 46 14 0 0 1 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924250 45924250 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:45924250C>T ENST00000395629.2 + 5 1232 c.902C>T c.(901-903)tCc>tTc p.S301F MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.S311F Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 311 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) TCAGTCAGCTCCGATCCAGAC 0.672000 13 20 0 0 1 0 0 TJAP1 93643 broad.mit.edu 37 6 43466819 43466819 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:43466819G>A ENST00000372444.2 + 5 513 c.80G>A c.(79-81)gGa>gAa p.G27E TJAP1_ENST00000438588.2_Missense_Mutation_p.G27E|TJAP1_ENST00000436109.2_Missense_Mutation_p.G27E|TJAP1_ENST00000372445.5_Missense_Mutation_p.G27E|TJAP1_ENST00000372449.1_Missense_Mutation_p.G27E|TJAP1_ENST00000372452.1_Missense_Mutation_p.G27E|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000259751.1_Missense_Mutation_p.G27E NM_001146018.1 NP_001139490.1 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 (peripheral) 27 Golgi apparatus|tight junction protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2) 21 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GAAATTCCTGGATCCCGGCTT 0.602000 23 46 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273352 125273352 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:125273352C>T ENST00000335302.5 + 1 272 c.272C>T c.(271-273)tCg>tTg p.S91L NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S91L(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 AAGTACAAATCGATCCTCTAT 0.408000 48 80 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52864092 52864092 + RNA SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:52864092A>G ENST00000451298.1 - 0 77 RP11-64P12.8_ENST00000606031.1_RNA AGCCACATCCAACAAGATCAG 0.299000 13 12 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8215408 8215408 + Silent SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:8215408T>C ENST00000361926.3 + 2 161 c.51T>C c.(49-51)ccT>ccC p.P17P ARHGEF15_ENST00000421050.1_Silent_p.P17P NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 17 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AGAAGCCCCCTCGGATCATCC 0.627000 6 92 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55569128 55569128 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:55569128C>T ENST00000395445.1 - 36 5076 c.4682G>A c.(4681-4683)gGa>gAa p.G1561E PCDH15_ENST00000395442.1_Missense_Mutation_p.G426E|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.G757E|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.G495E NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTCAACGATTCCTCTTTTATC 0.428000 HNSCC(58;0.16) 27 92 0 0 1 0 0 BLZF1 8548 broad.mit.edu 37 1 169351352 169351352 + Missense_Mutation SNP T T G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:169351352T>G ENST00000367808.3 + 6 1273 c.850T>G c.(850-852)Tcc>Gcc p.S284A BLZF1_ENST00000329281.2_Missense_Mutation_p.S284A Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 284 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) GCAAACTTACTCCCCTAGTGT 0.423000 58 100 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924867 188924867 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:188924867G>A ENST00000326866.4 + 4 1314 c.906G>A c.(904-906)acG>acA p.T302T ZFP42_ENST00000509524.1_Silent_p.T302T NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 302 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) ATGCAAATACGAACAAGAATG 0.428000 8 59 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53908026 53908026 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:53908026C>T ENST00000396328.1 - 15 2616 c.2377G>A c.(2377-2379)Gac>Aac p.D793N WDR72_ENST00000559418.1_Missense_Mutation_p.D803N|WDR72_ENST00000360509.5_Missense_Mutation_p.D793N|WDR72_ENST00000557913.1_Missense_Mutation_p.D790N NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 793 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TTTGCTGTGTCTATTGTGAGA 0.373000 120 72 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216068 149216068 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:149216068C>T ENST00000309241.5 + 8 2082 c.2050C>T c.(2050-2052)Ccc>Tcc p.P684S PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P684S|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P620S|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P645S NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 684 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.P684S(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCAGAAGCGTCCCTTCTCCTG 0.622000 76 70 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4443224 4443224 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:4443224G>T ENST00000254718.4 - 26 3779 c.3473C>A c.(3472-3474)cCc>cAc p.P1158H MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P1158H Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1158 Required for nuclear and nucleolar localization (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 GGTGGCACTGGGGATCTCCTT 0.577000 77 133 1.42074e-37 1.47102e-37 1 1 0 KIAA0895L 653319 broad.mit.edu 37 16 67211966 67211966 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:67211966T>A ENST00000290881.7 - 7 2124 c.1198A>T c.(1198-1200)Att>Ttt p.I400F KIAA0895L_ENST00000561621.1_Silent_p.A396A|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.I400F|KIAA0895L_ENST00000561679.1_Missense_Mutation_p.I245F|KIAA0895L_ENST00000563831.2_Intron Q68EN5 K895L_HUMAN KIAA0895-like 400 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 TGTCGCAGAATGCGCACGATG 0.662000 19 9 0 0 1 0 0 MPP1 4354 broad.mit.edu 37 X 154009980 154009980 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:154009980G>A ENST00000413259.3 - 11 1346 c.954C>T c.(952-954)ttC>ttT p.F318F MPP1_ENST00000369534.3_Silent_p.F348F|MPP1_ENST00000393531.1_Silent_p.F328F NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 348 Guanylate kinase-like.|Interaction with MPP5. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding p.F348F(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAAACTCCAAGAACTCATTGG 0.478000 126 55 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72130978 72130978 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:72130978C>T ENST00000265381.4 - 2 1371 c.1149G>A c.(1147-1149)caG>caA p.Q383Q NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 383 LIN-2/CASK binding.|Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GGCTAATGTCCTGGCGCATGA 0.617000 78 25 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37534725 37534725 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:37534725C>T ENST00000299824.1 + 7 999 c.810C>T c.(808-810)gcC>gcT p.A270A PPP1R16B_ENST00000373331.2_Intron NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 270 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) ATGCAGCTGCCTTCTGGGGAC 0.597000 32 49 0 0 1 0 0 SCYL1 57410 broad.mit.edu 37 11 65304507 65304507 + Missense_Mutation SNP G G C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:65304507G>C ENST00000524944.1 + 14 1900 c.1867G>C c.(1867-1869)Ggc>Cgc p.G623R SCYL1_ENST00000527009.1_Missense_Mutation_p.G480R|SCYL1_ENST00000420247.2_Splice_Site|SCYL1_ENST00000527630.1_Splice_Site|SCYL1_ENST00000533862.1_Missense_Mutation_p.G623R|SCYL1_ENST00000270176.5_Missense_Mutation_p.G623R|SCYL1_ENST00000525364.1_Missense_Mutation_p.G623R|SCYL1_ENST00000279270.6_Missense_Mutation_p.G623R Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 623 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 TACAACCTCAGGCCACTGGGA 0.642000 6 68 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13670534 13670534 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:13670534G>A ENST00000404922.3 + 12 2818 c.2699G>A c.(2698-2700)gGg>gAg p.G900E FBLN2_ENST00000295760.7_Missense_Mutation_p.G853E|FBLN2_ENST00000535798.1_Missense_Mutation_p.G879E|FBLN2_ENST00000492059.1_Missense_Mutation_p.G900E NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 896 EGF-like 6; 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) AGCGATGATGGGACCAAGTGT 0.687000 13 24 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47855834 47855834 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:47855834G>A ENST00000371754.4 - 15 3883 c.3430C>T c.(3430-3432)Ctc>Ttc p.L1144F DDX27_ENST00000371764.4_Missense_Mutation_p.R650K|ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 0 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAGCCCGAGAGGAGCTGGTTC 0.507000 17 22 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128359223 128359223 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:128359223C>T ENST00000392668.3 - 5 565 c.497G>A c.(496-498)gGg>gAg p.G166E ETS1_ENST00000526145.1_Missense_Mutation_p.G122E|ETS1_ENST00000345075.4_Missense_Mutation_p.G122E|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000531611.1_Missense_Mutation_p.G122E|ETS1_ENST00000319397.5_Missense_Mutation_p.G122E NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 122 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) TAAGATGTCCCCAACAAAGTC 0.502000 100 127 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33604797 33604797 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:33604797C>T ENST00000170564.2 + 14 2331 c.2017C>T c.(2017-2019)Cga>Tga p.R673* NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 673 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) ATCACAGCACCGAGGTCCCGA 0.522000 18 22 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120306804 120306804 + Missense_Mutation SNP A A C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:120306804A>C ENST00000369406.3 - 2 599 c.550T>G c.(550-552)Tcc>Gcc p.S184A HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.S184A NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 184 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CCATCCCAGGAACTGGACTCC 0.493000 37 44 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70724135 70724135 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:70724135C>T ENST00000229195.3 + 6 1034 c.455C>T c.(454-456)cCt>cTt p.P152L CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.P152L NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 152 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ATTGGAATTCCTAGCAGGACA 0.453000 58 74 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30419444 30419444 + Splice_Site SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:30419444A>G ENST00000333027.3 + 19 3642 c.e19-1 CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Splice_Site|MTMR3_ENST00000323630.5_Intron|MTMR3_ENST00000401950.2_Intron|MTMR3_ENST00000351488.3_Intron NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CCCTCCTTGCAGGGACACTGA 0.478000 39 67 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76906068 76906068 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:76906068G>T ENST00000380887.2 + 2 444 c.372G>T c.(370-372)aaG>aaT p.K124N ESRRB_ENST00000261532.7_Missense_Mutation_p.K124N|ESRRB_ENST00000556177.1_Missense_Mutation_p.K124N|ESRRB_ENST00000509242.1_Missense_Mutation_p.K124N|ESRRB_ENST00000507951.1_3'UTR A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 124 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) AGGCTTGCAAGGCCTTCTTCA 0.657000 18 23 0.00074312 0.000747707 1 1 0 CRYBA4 1413 broad.mit.edu 37 22 27021580 27021580 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:27021580C>T ENST00000354760.3 + 4 329 c.294C>T c.(292-294)gcC>gcT p.A98A CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 98 Beta/gamma crystallin 'Greek key' 2. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 GGCCTGCGGCCTGTGCTGTAA 0.597000 78 119 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47410319 47410319 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:47410319G>A ENST00000361866.3 + 13 1099 c.985G>A c.(985-987)Ggg>Agg p.G329R NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 329 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TGGCATCGACGGGGTGGACGG 0.652000 12 32 0 0 1 0 0 RANBP3 8498 broad.mit.edu 37 19 5933471 5933471 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:5933471G>A ENST00000340578.6 - 6 483 c.426C>T c.(424-426)ttC>ttT p.F142F RANBP3_ENST00000034275.8_Silent_p.F74F|RANBP3_ENST00000541471.1_Silent_p.F14F|RANBP3_ENST00000591092.1_Silent_p.F74F|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000439268.2_Silent_p.F142F NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 142 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 GCTTCAACCGGAAGCCACTGC 0.617000 31 40 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124272495 124272495 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:124272495C>T ENST00000409039.3 + 10 1408 c.1383C>T c.(1381-1383)ttC>ttT p.F461F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 461 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGCGGCTGTTCGAGAGGACGG 0.597000 3 2 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459847 142459847 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:142459847C>T ENST00000486171.1 + 4 482 c.465C>T c.(463-465)atC>atT p.I155I PRSS1_ENST00000311737.7_Silent_p.I141I P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 141 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) AGTGCCTCATCTCTGGCTGGG 0.567000 47 77 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66190156 66190156 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:66190156C>T ENST00000311034.2 + 4 618 c.442C>T c.(442-444)Cgc>Tgc p.R148C NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 148 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 TCGCCTCTTCCGCTGCCGCTT 0.547000 22 56 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28823695 28823695 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:28823695C>T ENST00000422425.2 + 35 2505 c.2461C>T c.(2461-2463)Caa>Taa p.Q821* PLB1_ENST00000327757.5_Nonsense_Mutation_p.Q832* NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 832 4 X 308-326 AA approximate repeats. G -> R (in dbSNP:rs10201128). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GAGCCAAGTCCAaactctgat 0.418000 40 45 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736453 140736453 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140736453C>T ENST00000571252.1 + 1 1686 c.1686C>T c.(1684-1686)atC>atT p.I562I PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCTGAGATCCTGTACCCCA 0.582000 61 401 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9520891 9520891 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:9520891C>T ENST00000281419.3 + 20 2310 c.1970C>T c.(1969-1971)cCg>cTg p.P657L ASAP2_ENST00000315273.4_Missense_Mutation_p.P657L NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 657 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 GGAGAGACTCCGCTGGACATT 0.562000 71 102 0 0 1 0 0 ADCK4 79934 broad.mit.edu 37 19 41206336 41206336 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:41206336G>A ENST00000324464.3 - 11 1215 c.914C>T c.(913-915)cCc>cTc p.P305L ADCK4_ENST00000450541.1_Missense_Mutation_p.P264L|ADCK4_ENST00000243583.6_Missense_Mutation_p.P264L NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 305 Protein kinase. integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CCGGAAGAAGGGGTCATTTGC 0.632000 13 23 0 0 1 0 0 YTHDF2 51441 broad.mit.edu 37 1 29069261 29069261 + Nonsense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:29069261T>A ENST00000373812.3 + 4 841 c.479T>A c.(478-480)tTa>tAa p.L160* YTHDF2_ENST00000542507.1_Nonsense_Mutation_p.L160*|YTHDF2_ENST00000541996.1_Nonsense_Mutation_p.L110*|YTHDF2_ENST00000478283.1_3'UTR NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 160 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CCTAGCTCCTTAGGTGGAGCC 0.468000 53 26 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25294296 25294296 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:25294296G>A ENST00000400358.4 + 19 2437 c.2380G>A c.(2380-2382)Gag>Aag p.E794K SGSM1_ENST00000400359.4_Missense_Mutation_p.E849K NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 849 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GAGCATGGACGAGTTCATGTC 0.617000 25 47 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39170406 39170406 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:39170406C>G ENST00000301819.6 + 14 2080 c.1903C>G c.(1903-1905)Cgg>Ggg p.R635G TTC21A_ENST00000431162.2_Missense_Mutation_p.R634G|TTC21A_ENST00000440121.1_Missense_Mutation_p.R586G NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 634 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGAGGCCCTCCGGCTGAATGG 0.572000 34 39 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19070893 19070893 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:19070893G>A ENST00000569532.1 + 15 2313 c.2183G>A c.(2182-2184)tGg>tAg p.W728* TMC7_ENST00000304381.5_Intron|TMC7_ENST00000421369.3_Intron Q7Z402 TMC7_HUMAN transmembrane channel-like 7 117 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CTGTTTTCCTGGGAGGGAGTG 0.537000 11 3 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4389419 4389419 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:4389419G>A ENST00000408920.2 - 1 197 c.107C>T c.(106-108)tCc>tTc p.S36F NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGACATAGGAAATGAAGAA 0.517000 24 31 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 36993331 36993331 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:36993331G>A ENST00000217407.2 + 8 1007 c.846G>A c.(844-846)tcG>tcA p.S282S NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 282 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) TTGCCATCTCGGATTATGTCT 0.473000 78 102 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807291 15807291 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:15807291C>T ENST00000550308.1 + 12 1746 c.1366C>T c.(1366-1368)Ctg>Ttg p.L456L CYP4F12_ENST00000324632.9_Silent_p.L456L NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GAGGTCACCTCTGGCTTTTAT 0.557000 103 144 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53223127 53223127 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:53223127C>T ENST00000394729.2 + 16 1936 c.1608C>T c.(1606-1608)gtC>gtT p.V536V PRKCD_ENST00000330452.3_Silent_p.V536V NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 536 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CTTTCGGGGTCCTTCTGTACG 0.572000 11 32 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73748721 73748721 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:73748721G>A ENST00000334126.7 - 30 5909 c.5683C>T c.(5683-5685)Cag>Tag p.Q1895* C2CD3_ENST00000313663.7_Nonsense_Mutation_p.Q1895* Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1895 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CTCTGAATCTGATCAAGCTCA 0.488000 6 25 0 0 1 0 0 CEACAM16 388551 broad.mit.edu 37 19 45206902 45206902 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:45206902C>T ENST00000587331.1 + 3 536 c.321C>T c.(319-321)atC>atT p.I107I CEACAM16_ENST00000405314.2_Silent_p.I107I|CTB-171A8.1_ENST00000590796.1_RNA NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 107 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) GCACCTACATCCTGCAGACCT 0.677000 8 7 0 0 1 0 0 RPF1 80135 broad.mit.edu 37 1 84945089 84945089 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:84945089C>T ENST00000370654.5 + 1 140 c.125C>T c.(124-126)cCc>cTc p.P42L RPF1_ENST00000370656.1_Missense_Mutation_p.P42L NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 42 rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 GGGGTCCAACCCCCGAAAGCG 0.572000 27 56 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687571 61687571 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:61687571G>A ENST00000577390.1 - 12 3295 c.2341C>T c.(2341-2343)Ccc>Tcc p.P781S CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 781 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) TTAAAGCGGGGACCCCAGTCA 0.488000 47 14 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42482945 42482945 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:42482945G>A ENST00000545399.1 - 12 1635 c.1482C>T c.(1480-1482)tcC>tcT p.S494S ATP1A3_ENST00000302102.5_Silent_p.S481S|ATP1A3_ENST00000602133.1_Silent_p.S451S|ATP1A3_ENST00000543770.1_Silent_p.S492S NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 481 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TCTCATGGATGGAGAGCTGGG 0.652000 38 44 0 0 1 0 0 TRBV3-1 28619 broad.mit.edu 37 7 142008762 142008762 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:142008762G>A ENST00000390387.3 + 0 282 AAATGAAACAGTTCCAAATCG 0.378000 64 80 0 0 1 0 0 FBXO3 26273 broad.mit.edu 37 11 33795990 33795990 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:33795990G>A ENST00000530401.1 - 1 74 c.54C>T c.(52-54)acC>acT p.T18T FBXO3_ENST00000534136.1_Silent_p.T18T|FBXO3_ENST00000265651.3_Silent_p.T18T|FBXO3_ENST00000448981.2_Silent_p.T18T Q9UK99 FBX3_HUMAN F-box protein 3 18 F-box. proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) GCAGGGGATCGGTGGGCAGCG 0.657000 4 14 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65022098 65022098 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:65022098C>T ENST00000394156.3 - 7 1414 c.961G>A c.(961-963)Gac>Aac p.D321N CDH11_ENST00000268603.4_Missense_Mutation_p.D321N|CDH11_ENST00000566827.1_Missense_Mutation_p.D195N P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 321 Cadherin 3. 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) GTTTCATAGTCCGTTGTGATT 0.438000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 92 42 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152688434 152688434 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:152688434C>T ENST00000367255.5 - 62 10492 c.9891G>A c.(9889-9891)acG>acA p.T3297T SYNE1_ENST00000448038.1_Silent_p.T3304T|SYNE1_ENST00000423061.1_Silent_p.T3304T|SYNE1_ENST00000341594.5_Silent_p.T3336T|SYNE1_ENST00000265368.4_Silent_p.T3297T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3297 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) GAATCGCATCCGTCATCCAGT 0.458000 HNSCC(10;0.0054) 103 26 0 0 1 0 0 SFTPB 6439 broad.mit.edu 37 2 85893848 85893848 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:85893848G>A ENST00000393822.3 - 5 420 c.321C>T c.(319-321)ttC>ttT p.F107F SFTPB_ENST00000409383.1_Silent_p.F107F|SFTPB_ENST00000519937.2_Silent_p.F95F|SFTPB_ENST00000342375.3_Silent_p.F95F P07988 PSPB_HUMAN surfactant protein B 95 Saposin B-type 1. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 CCTGCTCCAGGAACTTCCTCA 0.622000 90 116 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564925 47564925 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:47564925G>A ENST00000334194.3 + 8 1039 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 346 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TGAAATCAGGGAACTCCTAGG 0.448000 26 25 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28970753 28970753 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:28970753G>A ENST00000359747.4 + 6 681 c.652G>A c.(652-654)Gtc>Atc p.V218I RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.V218I|RP11-534N16.1_ENST00000581452.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 218 Cadherin 2. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CACTGGAGAAGTCTGCACCAT 0.383000 17 3 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102183090 102183090 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:102183090C>T ENST00000306176.1 + 7 904 c.804C>T c.(802-804)ttC>ttT p.F268F ZPLD1_ENST00000466937.1_Silent_p.F252F|ZPLD1_ENST00000491959.1_Silent_p.F252F NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 252 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATGATCTTTTCCTTAGGTAAG 0.313000 36 39 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50293693 50293693 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:50293693C>T ENST00000313601.6 + 5 918 c.534C>T c.(532-534)acC>acT p.T178T GNAI2_ENST00000536647.1_Silent_p.T97T|GNAI2_ENST00000440628.1_Silent_p.T126T|GNAI2_ENST00000266027.5_Silent_p.T162T|GNAI2_ENST00000422163.1_Silent_p.T162T|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Silent_p.T141T NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 178 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) TGCTACGGACCCGCGTAAAGA 0.597000 38 40 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27938585 27938585 + Splice_Site SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:27938585G>A ENST00000299340.4 - 2 519 c.176_splice c.e2+1 p.S59_splice CYYR1_ENST00000435845.2_Splice_Site_p.S167_splice|CYYR1_ENST00000400043.3_Splice_Site_p.S59_splice|AP001597.1_ENST00000357401.3_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 59 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GAATACTCACGAGAGGATATT 0.433000 10 22 0 0 1 0 0 KHNYN 23351 broad.mit.edu 37 14 24901602 24901602 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:24901602C>T ENST00000251343.5 + 3 1274 c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W KHNYN_ENST00000556842.1_Missense_Mutation_p.R379W|KHNYN_ENST00000553935.1_Missense_Mutation_p.R379W O15037 KHNYN_HUMAN KH and NYN domain containing 379 kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 CTGCGGAGACCGGGGAGACGT 0.687000 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 36 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155732402 155732402 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:155732402C>T ENST00000159060.2 - 11 1503 c.1401G>A c.(1399-1401)ggG>ggA p.G467G NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 467 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AGTGAGTTTTCCCCTGCTCAC 0.423000 38 9 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345849 92345849 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr13:92345849C>T ENST00000377067.3 + 3 1106 c.734C>T c.(733-735)tCc>tTc p.S245F NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 245 S -> F (in Ref. 2; AAC12261). anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CTGCACTTCTCCAAAGAGTGC 0.547000 30 26 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128471489 128471489 + Silent SNP A A C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:128471489A>C ENST00000322313.4 - 18 3134 c.2976T>G c.(2974-2976)ggT>ggG p.G992G NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 992 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AGTCCTGGCCACCCCGGAAAG 0.662000 14 150 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16257608 16257608 + Nonsense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:16257608G>T ENST00000375759.3 + 11 5077 c.4873G>T c.(4873-4875)Gag>Tag p.E1625* NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1625 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATCTGCTCCTGAGAATAAAGA 0.453000 91 44 5.50736e-56 5.71784e-56 1 1 0 CT47B1 643311 broad.mit.edu 37 X 120009153 120009153 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:120009153G>A ENST00000371311.3 - 1 626 c.372C>T c.(370-372)ttC>ttT p.F124F NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 124 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CCAGGTACAGGAACACGAAGC 0.652000 29 18 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100374001 100374001 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:100374001C>T ENST00000273352.3 + 12 1970 c.1702C>T c.(1702-1704)Ctt>Ttt p.L568F GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.L273F NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 568 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GCATTTCATTCTTTTCATCTC 0.388000 31 64 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20799776 20799776 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:20799776G>A ENST00000359062.3 + 12 2497 c.2457G>A c.(2455-2457)ggG>ggA p.G819G PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 819 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GTCTGTCTGGGAATATCCCTG 0.433000 68 108 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230398 56230398 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:56230398C>T ENST00000279791.1 - 1 479 c.480G>A c.(478-480)tgG>tgA p.W160* NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) AGCCATAAGTCCATAGTGTGC 0.438000 40 61 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36763661 36763661 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:36763661G>A ENST00000431169.1 - 1 393 c.93C>T c.(91-93)tcC>tcT p.S31S AOAH_ENST00000258749.5_Silent_p.S31S|AOAH_ENST00000535891.1_Silent_p.S31S NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 31 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GGCTGGGCCTGGACTGGTCAT 0.498000 25 25 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153896810 153896810 + Silent SNP C C T rs138008286 byFrequency TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:153896810C>T ENST00000511601.1 + 12 2555 c.2367C>T c.(2365-2367)acC>acT p.T789T FHDC1_ENST00000260008.3_Silent_p.T789T Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 789 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CAGAGGGAACCGACTCCAGAC 0.612000 59 66 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303099 53303099 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:53303099C>T ENST00000438150.2 - 2 2733 c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K ZNF28_ENST00000457749.2_Missense_Mutation_p.E667K|ZNF28_ENST00000414252.2_Missense_Mutation_p.E614K|ZNF28_ENST00000360272.4_Missense_Mutation_p.E614K P17035 ZNF28_HUMAN zinc finger protein 28 667 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TTGCCACATTCATTACACTTG 0.423000 58 111 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 6 129 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 62055071 62055071 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:62055071C>T ENST00000577390.1 - 2 1191 c.237G>A c.(235-237)ccG>ccA p.P79P CDH8_ENST00000577730.1_Silent_p.P79P|CDH8_ENST00000299345.6_Silent_p.P79P|CDH8_ENST00000584337.1_Silent_p.P79P NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 79 Cadherin 1. 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) CAACAAGAATCGGTTCAGGTC 0.408000 32 19 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20959930 20959930 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:20959930C>T ENST00000261383.3 - 57 11217 c.11218G>A c.(11218-11220)Gat>Aat p.D3740N DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3740 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCTTTGTCATCAGTCACTCTG 0.498000 14 15 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177250406 177250406 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:177250406G>A ENST00000361539.4 + 8 2406 c.2094G>A c.(2092-2094)cgG>cgA p.R698R FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 698 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 ATGCTATCCGGGACTTAATTC 0.498000 71 107 0 0 1 0 0 CLEC4E 26253 broad.mit.edu 37 12 8687402 8687402 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:8687402G>A ENST00000299663.3 - 6 657 c.492C>T c.(490-492)ttC>ttT p.F164F CLEC4E_ENST00000545274.1_Silent_p.F119F|CLEC4E_ENST00000446457.2_3'UTR NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 164 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) CTACATCCCAGAAGCTGAAAA 0.408000 29 48 0 0 1 0 0 ZNF846 162993 broad.mit.edu 37 19 9869117 9869117 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:9869117G>A ENST00000397902.2 - 6 1049 c.636C>T c.(634-636)tcC>tcT p.S212S ZNF846_ENST00000592859.1_Silent_p.S83S|ZNF846_ENST00000588267.1_Silent_p.S83S|ZNF846_ENST00000586293.1_3'UTR NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 GTAACTTAAGGGATGACTGAT 0.368000 28 44 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857636 9857636 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:9857636C>T ENST00000396573.2 - 14 4074 c.3765G>A c.(3763-3765)caG>caA p.Q1255Q GRIN2A_ENST00000404927.2_Silent_p.Q1255Q|GRIN2A_ENST00000396575.2_Silent_p.Q1255Q|GRIN2A_ENST00000330684.3_Silent_p.Q1255Q|GRIN2A_ENST00000535259.1_Silent_p.Q1098Q|GRIN2A_ENST00000562109.1_Silent_p.Q1255Q NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1255 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TACCTGTCTCCTGAAGCATCT 0.542000 28 15 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139410090 139410090 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:139410090C>T ENST00000277541.6 - 11 1823 c.1748G>A c.(1747-1749)gGc>gAc p.G583D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 583 EGF-like 15; 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) GGTGGCGACGCCGTCCTTGCA 0.701000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 11 13 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31859912 31859912 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:31859912G>A ENST00000397525.1 - 5 563 c.340C>T c.(340-342)Ctc>Ttc p.L114F RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.L114F|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.L114F|RP11-247I13.11_ENST00000483736.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 114 L -> F (in Ref. 1; AAF81693). nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGAGGGCTGAGAACAACATCT 0.498000 41 61 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88204514 88204514 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:88204514C>G ENST00000357081.3 - 20 2795 c.2651G>C c.(2650-2652)gGa>gCa p.G884A AGTPBP1_ENST00000376083.3_Missense_Mutation_p.G844A|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.G896A Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 884 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GCAGCTGTTTCCAGACAGGGT 0.368000 47 20 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58892779 58892779 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:58892779G>A ENST00000343597.3 + 4 1400 c.1209G>A c.(1207-1209)ccG>ccA p.P403P FAM111B_ENST00000411426.1_Silent_p.P373P|FAM111B_ENST00000529618.1_Silent_p.P373P NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 403 catalytic activity p.P403P(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 ATCAGTATCCGAATTTTAAAG 0.358000 55 86 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158142597 158142597 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:158142597G>A ENST00000259056.4 + 3 2177 c.1692G>A c.(1690-1692)gaG>gaA p.E564E NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 564 Catalytic subdomain A. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GCCTCAAAGAGAGACATGGCT 0.343000 17 26 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720735 140720735 + Missense_Mutation SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:140720735A>G ENST00000394576.2 + 1 2197 c.2197A>G c.(2197-2199)Aca>Gca p.T733A PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCAGCTTGACAGGCATGCA 0.637000 57 129 0 0 1 0 0 JDP2 122953 broad.mit.edu 37 14 75904815 75904815 + Silent SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:75904815G>T ENST00000435893.2 + 2 465 c.192G>T c.(190-192)gtG>gtT p.V64V JDP2_ENST00000419727.2_Silent_p.V64V|JDP2_ENST00000267569.5_Silent_p.V75V|JDP2_ENST00000559773.1_3'UTR|JDP2_ENST00000437176.1_Silent_p.V64V NM_001135047.1|NM_130469.3 NP_001128519.1|NP_569736.1 Q8WYK2 JDP2_HUMAN Jun dimerization protein 2 64 nucleus sequence-specific DNA binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.0296) CCCAGCCCGTGAAAAGTGAGG 0.562000 5 9 5.9392e-07 6.00765e-07 1 1 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796645 62796645 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:62796645G>A ENST00000582986.1 - 0 1275 NR_024386.1 CAGGTCTGAGGGAGAGAGGCA 0.657000 44 67 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44777326 44777326 + Missense_Mutation SNP T T G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:44777326T>G ENST00000391958.2 + 5 640 c.513T>G c.(511-513)aaT>aaG p.N171K ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GCATAAAAAATCAAGAGCTTC 0.408000 33 58 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3441340 3441340 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:3441340C>T ENST00000344733.5 + 18 5177 c.4273C>T c.(4273-4275)Cct>Tct p.P1425S RGS12_ENST00000338806.4_Missense_Mutation_p.P777S NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1425 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATCAGACCTCCCTGGCTTGGG 0.692000 11 15 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137676919 137676919 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:137676919C>T ENST00000371817.3 + 30 2983 c.2569C>T c.(2569-2571)Cct>Tct p.P857S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 857 Triple-helical 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) TGACCCCGGTCCTCTGGGACC 0.642000 28 37 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89869856 89869856 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr15:89869856G>A ENST00000268124.5 - 9 2032 c.1699C>T c.(1699-1701)Cct>Tct p.P567S POLG_ENST00000442287.2_Missense_Mutation_p.P567S NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 567 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) GGGTGTCCAGGAAGGTGCTGG 0.612000 DNA polymerases (catalytic subunits) 35 45 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129012229 129012229 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:129012229C>T ENST00000326639.6 + 6 643 c.432C>T c.(430-432)atC>atT p.I144I LARP1B_ENST00000394288.3_Silent_p.I144I|LARP1B_ENST00000512292.1_Silent_p.I144I|LARP1B_ENST00000441387.1_Silent_p.I144I|LARP1B_ENST00000432347.2_Silent_p.I144I|LARP1B_ENST00000264584.5_Silent_p.I97I|LARP1B_ENST00000427266.1_Silent_p.I144I|LARP1B_ENST00000354456.3_5'UTR NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 144 Arg-rich. RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 GTGGTAATATCCGAGGTTCCT 0.398000 55 45 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143306 56143306 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:56143306G>A ENST00000302270.1 + 1 207 c.207G>A c.(205-207)gtG>gtA p.V69V NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TAGCTTTTGTGGATTTCTGTT 0.398000 77 139 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870960 51870960 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:51870960G>A ENST00000371497.5 + 2 1850 c.963G>A c.(961-963)aaG>aaA p.K321K TSHZ2_ENST00000329613.6_Silent_p.K318K|TSHZ2_ENST00000603338.2_Silent_p.K318K NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 321 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCCCGGCTAAGAAACGCGTTT 0.443000 52 71 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 305972 305972 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:305972G>A ENST00000428720.1 - 11 1895 c.1152C>T c.(1150-1152)ttC>ttT p.F384F SLC6A12_ENST00000397296.2_Silent_p.F384F|SLC6A12_ENST00000359674.4_Silent_p.F384F|SLC6A12_ENST00000424061.2_Silent_p.F384F|SLC6A12_ENST00000536824.1_Silent_p.F384F NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 384 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GCATGATAAAGAACAGGCAGG 0.582000 44 76 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196274467 196274467 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:196274467G>A ENST00000367433.5 - 21 2521 c.2420C>T c.(2419-2421)tCc>tTc p.S807F KCNT2_ENST00000294725.8_Missense_Mutation_p.S831F|KCNT2_ENST00000367431.4_Missense_Mutation_p.S757F|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 831 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ACTGAGACTGGAAAACAACCT 0.363000 18 41 0 0 1 0 0 STK38L 23012 broad.mit.edu 37 12 27467549 27467549 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:27467549C>T ENST00000389032.3 + 7 799 c.630C>T c.(628-630)atC>atT p.I210I STK38L_ENST00000539577.1_Silent_p.I117I NM_015000.3 NP_055815.1 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 210 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) TGGGTTTCATCCATCGGGATA 0.413000 23 40 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240421273 240421273 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:240421273C>T ENST00000319653.9 + 7 4324 c.4094C>T c.(4093-4095)tCa>tTa p.S1365L FMN2_ENST00000545751.1_Intron NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1365 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AACAAAAGATCACAAGCAGTT 0.299000 21 35 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141721530 141721530 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:141721530C>T ENST00000475668.2 + 6 757 c.703C>T c.(703-705)Cgt>Tgt p.R235C MGAM_ENST00000549489.2_Missense_Mutation_p.R235C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 235 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) AAGCAACAATCGTGTTTTGTA 0.433000 42 93 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107578495 107578495 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:107578495G>A ENST00000374736.3 - 25 4061 c.3667C>T c.(3667-3669)Cat>Tat p.H1223Y NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1223 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCAATCTCATGAAAGAGTTCC 0.502000 111 152 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82508656 82508656 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:82508656C>T ENST00000423517.2 - 10 13988 c.13651G>A c.(13651-13653)Gaa>Aaa p.E4551K PCLO_ENST00000333891.8_Missense_Mutation_p.E4551K|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4440 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTCTTACCTTCCATAAGCTTC 0.378000 13 21 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110791115 110791115 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:110791115C>A ENST00000327908.3 + 4 1425 c.661C>A c.(661-663)Cct>Act p.P221T LRIT3_ENST00000379920.3_Missense_Mutation_p.P359T|LRIT3_ENST00000594814.1_Missense_Mutation_p.P404T|LRIT3_ENST00000409621.2_Missense_Mutation_p.P221T Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 359 Ig-like. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) tactttgtctcctccctctac 0.473000 32 32 1.80694e-10 1.84082e-10 1 1 0 KCNA5 3741 broad.mit.edu 37 12 5153888 5153888 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:5153888C>T ENST00000252321.3 + 1 804 c.575C>T c.(574-576)tCc>tTc p.S192F NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 192 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GTCAACGTCTCCCTGGACGTG 0.612000 35 43 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71247488 71247488 + Silent SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:71247488G>T ENST00000318789.4 - 6 570 c.45C>A c.(43-45)gcC>gcA p.A15A FOXP1_ENST00000475937.1_Silent_p.A15A|FOXP1_ENST00000484350.1_Silent_p.A15A|FOXP1_ENST00000468577.1_Silent_p.A15A|FOXP1_ENST00000498215.1_Silent_p.A15A|FOXP1_ENST00000493089.1_Silent_p.A15A|FOXP1_ENST00000318779.3_Silent_p.A15A NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 15 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CATTCTGGATGGCTGAACCGT 0.577000 T PAX5 ALL 84 112 4.90379e-48 5.08656e-48 1 1 0 NXF3 56000 broad.mit.edu 37 X 102337987 102337987 + Silent SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:102337987T>C ENST00000395065.3 - 7 737 c.636A>G c.(634-636)caA>caG p.Q212Q NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.Q123Q NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 212 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CATCACACTGTTGGTTCATGG 0.507000 187 70 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79663934 79663934 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:79663934C>T ENST00000329138.4 + 18 1923 c.1788C>T c.(1786-1788)gcC>gcT p.A596A NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 596 Gln-rich.|Interaction with NF2. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TCAGCCCTGCCGGCTCGGTGG 0.692000 50 82 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101971114 101971114 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:101971114C>T ENST00000543253.1 + 5 2236 c.1317C>T c.(1315-1317)gcC>gcT p.A439A GPRASP2_ENST00000332262.5_Silent_p.A439A|GPRASP2_ENST00000535209.1_Silent_p.A439A NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 GAGAAGAGGCCAAGCCGGAGT 0.562000 69 46 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52827650 52827650 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:52827650C>G ENST00000252245.5 - 1 659 c.439G>C c.(439-441)Gcc>Ccc p.A147P NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 147 Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CGCTCCTCGGCCCGCACCCGC 0.587000 71 111 0 0 1 0 0 ZNF652 22834 broad.mit.edu 37 17 47394690 47394690 + Missense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:47394690C>A ENST00000362063.2 - 2 716 c.398G>T c.(397-399)gGg>gTg p.G133V ZNF652_ENST00000430262.2_Missense_Mutation_p.G133V NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 133 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) ACCCTTTTCCCCTTTAGATAC 0.438000 52 92 3.76343e-11 3.83742e-11 1 1 0 KRT75 9119 broad.mit.edu 37 12 52827652 52827652 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:52827652C>G ENST00000252245.5 - 1 657 c.437G>C c.(436-438)cGg>cCg p.R146P NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 146 Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CTCCTCGGCCCGCACCCGCTG 0.587000 73 114 0 0 1 0 0 RPP25L 138716 broad.mit.edu 37 9 34610831 34610831 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:34610831G>A ENST00000297613.4 - 2 743 c.463C>T c.(463-465)Cga>Tga p.R155* RPP25L_ENST00000378959.4_Nonsense_Mutation_p.R155* NM_148179.2 NP_680545.1 Q8N5L8 CI023_HUMAN ribonuclease P/MRP 25kDa subunit-like 155 nucleic acid binding GCCCTTCTTCGGGAACGAGGG 0.632000 66 72 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46060340 46060340 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:46060340C>T ENST00000295452.4 - 7 977 c.810G>A c.(808-810)atG>atA p.M270I NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 270 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) TGAAATATCCCATTCTTCTGC 0.328000 22 29 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962477 69962477 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:69962477C>T ENST00000305231.7 + 1 285 c.239C>T c.(238-240)tCt>tTt p.S80F UGT2B7_ENST00000508661.1_Missense_Mutation_p.S80F|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 80 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TATCCCACATCTTTAACTAAA 0.363000 37 38 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33137173 33137173 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:33137173G>A ENST00000341947.2 - 51 4012 c.3785C>T c.(3784-3786)cCc>cTc p.P1262L COL11A2_ENST00000374708.4_Missense_Mutation_p.P1176L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1215L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1202L|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1236L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1155L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1241L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1181L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1262 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 GTTCCCTTTGGGGCCATCATC 0.627000 34 43 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49150050 49150050 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:49150050G>A ENST00000453664.1 - 18 2800 c.2482C>T c.(2482-2484)Cgt>Tgt p.R828C USP19_ENST00000417901.1_Missense_Mutation_p.R840C|USP19_ENST00000398888.2_Missense_Mutation_p.R737C|USP19_ENST00000398892.3_Missense_Mutation_p.R777C|USP19_ENST00000398896.1_Missense_Mutation_p.R545C|USP19_ENST00000398898.2_Missense_Mutation_p.R777C|USP19_ENST00000434032.2_Missense_Mutation_p.R838C NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 737 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGATGAAAACGATTCTTAATT 0.522000 18 49 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95519079 95519079 + RNA SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:95519079C>T ENST00000432432.2 - 0 472 NR_040113.1 CGCCATGTTTCAGCAGAATAA 0.443000 90 136 0 0 1 0 0 C2orf62 375307 broad.mit.edu 37 2 219222449 219222449 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:219222449C>T ENST00000289388.3 + 3 340 c.311C>T c.(310-312)tCc>tTc p.S104F C2orf62_ENST00000481940.1_3'UTR|AC021016.8_ENST00000411433.1_RNA NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 104 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCGGAAATTCCCTCCTGGGT 0.537000 30 64 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66829101 66829101 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:66829101C>T ENST00000423207.2 + 10 1571 c.1086C>T c.(1084-1086)ctC>ctT p.L362L PDE4B_ENST00000480109.2_Silent_p.L144L|PDE4B_ENST00000371049.3_Silent_p.L377L|PDE4B_ENST00000329654.4_Silent_p.L377L|PDE4B_ENST00000371045.5_Silent_p.L205L NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 377 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) AAAGAGACCTCCTAAAGACAT 0.353000 20 34 0 0 1 0 0 SLC35C1 55343 broad.mit.edu 37 11 45827680 45827680 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:45827680G>A ENST00000314134.3 + 1 1724 c.328G>A c.(328-330)Gac>Aac p.D110N SLC35C1_ENST00000456334.1_Missense_Mutation_p.D97N|SLC35C1_ENST00000442528.2_Missense_Mutation_p.D97N NM_018389.4 NP_060859.4 Q96A29 FUCT1_HUMAN solute carrier family 35 (GDP-fucose transporter), member C1 110 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GBM - Glioblastoma multiforme(35;0.227) CTTGCGCCTGGACCTCAGGGT 0.632000 44 59 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21757460 21757460 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:21757460G>A ENST00000261195.2 - 1 321 c.67C>T c.(67-69)Ctt>Ttt p.L23F NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 23 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCCACAGGAAGTTCTTCGACT 0.498000 49 74 0 0 1 0 0 MIR520B 574473 broad.mit.edu 37 19 54204492 54204492 + RNA SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:54204492G>A ENST00000384989.1 + 0 12 NR_030195.1 CCTCTACAGGGAAGCGCTTTC 0.418000 17 42 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118598702 118598702 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:118598702G>A ENST00000360388.4 + 6 1041 c.840G>A c.(838-840)tgG>tgA p.W280* NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 280 transport integral to membrane p.W280*(1) breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) CCTGGGACTGGCAAATAGGTA 0.433000 4 145 0 0 1 0 0 C11orf16 56673 broad.mit.edu 37 11 8947244 8947244 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:8947244C>T ENST00000326053.5 - 5 1076 c.970G>A c.(970-972)Gag>Aag p.E324K C11orf16_ENST00000525780.1_Missense_Mutation_p.E324K NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 324 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GCTACTTTCTCCTCTTTAGGA 0.552000 52 80 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6694577 6694577 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:6694577G>A ENST00000245907.6 - 24 3111 c.3019C>T c.(3019-3021)Ccc>Tcc p.P1007S NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1007 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CAGCCCGAGGGGGTCACAATG 0.607000 35 59 0 0 1 0 0 GFM1 85476 broad.mit.edu 37 3 158363444 158363444 + Silent SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:158363444T>C ENST00000486715.1 + 2 465 c.108T>C c.(106-108)tcT>tcC p.S36S GFM1_ENST00000478576.1_Silent_p.S36S|GFM1_ENST00000264263.5_Silent_p.S36S NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 36 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) GCCGATGGTCTTCATCAGGGG 0.373000 24 32 0 0 1 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39418882 39418882 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:39418882C>G ENST00000216099.7 + 2 480 c.73C>G c.(73-75)Ccc>Gcc p.P25A APOBEC3D_ENST00000427494.2_Missense_Mutation_p.P25A|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.P25A NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 25 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) TGAAAACGAACCCATCCTCTA 0.522000 46 94 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606122 84606122 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:84606122C>T ENST00000344803.2 + 4 784 c.737C>T c.(736-738)cCc>cTc p.P246L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CTTCCCTTTCCCCTTCTCCCA 0.542000 174 77 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5282926 5282926 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:5282926G>A ENST00000546004.1 - 3 1161 c.915C>T c.(913-915)ttC>ttT p.F305F PROKR2_ENST00000217270.3_Silent_p.F305F Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 305 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TTTCCTTCACGAACACAGTGG 0.537000 HNSCC(71;0.22) 48 56 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202264132 202264132 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:202264132G>A ENST00000332624.3 - 5 876 c.448C>T c.(448-450)Ctg>Ttg p.L150L TRAK2_ENST00000430254.1_Silent_p.L150L NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 150 early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 TGCTCCTCCAGGGATTCGTTC 0.398000 35 37 0 0 1 0 0 FUCA1 2517 broad.mit.edu 37 1 24186370 24186370 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:24186370G>A ENST00000374479.3 - 4 693 c.686C>T c.(685-687)tCt>tTt p.S229F NM_000147.4 NP_000138.2 P04066 FUCO_HUMAN fucosidase, alpha-L- 1, tissue 229 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) CTCCCCATCAGACCAGATCAG 0.388000 37 21 0 0 1 0 0 FGF11 2256 broad.mit.edu 37 17 7344826 7344826 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:7344826G>A ENST00000293829.4 + 2 824 c.230G>A c.(229-231)tGc>tAc p.C77Y RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000572907.1_5'UTR|FGF11_ENST00000575082.1_5'UTR|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_5'UTR|FGF11_ENST00000575331.1_5'UTR|FGF11_ENST00000575398.1_5'UTR NM_004112.2 NP_004103.1 Q92914 FGF11_HUMAN fibroblast growth factor 11 77 cell-cell signaling|nervous system development|signal transduction growth factor activity central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1) 6 Prostate(122;0.157) AAACTGTTCTGCCGCCAGGGT 0.542000 24 40 0 0 1 0 0 ANXA9 8416 broad.mit.edu 37 1 150956828 150956828 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:150956828C>T ENST00000368947.4 + 6 815 c.339C>T c.(337-339)ccC>ccT p.P113P ANXA9_ENST00000474997.1_3'UTR NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 113 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGCTGCAGCCCACAGCCCAGT 0.567000 62 111 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11338875 11338875 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:11338875G>A ENST00000315872.6 - 24 3384 c.2936C>T c.(2935-2937)aCt>aTt p.T979I ROCK2_ENST00000401753.1_Missense_Mutation_p.T736I NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 979 RHOA binding (By similarity). axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) AACATCACTAGTTAGTGTCCT 0.264000 6 22 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64388724 64388724 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:64388724C>T ENST00000476120.1 + 4 1089 c.1018C>T c.(1018-1020)Cat>Tat p.H340Y ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.H275Y NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) TAAGATAATTCATACTGGAGA 0.343000 21 31 0 0 1 0 0 PLRG1 5356 broad.mit.edu 37 4 155469997 155469997 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:155469997G>A ENST00000499023.2 - 2 226 c.100C>T c.(100-102)Cct>Tct p.P34S PLRG1_ENST00000393905.2_Missense_Mutation_p.P34S|PLRG1_ENST00000302078.5_Missense_Mutation_p.P34S NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 34 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) TCATCTAAAGGCACAGGTTTT 0.388000 25 10 0 0 1 0 0 SYNPR 132204 broad.mit.edu 37 3 63600994 63600994 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:63600994C>T ENST00000478300.1 + 6 1106 c.695C>T c.(694-696)tCa>tTa p.S232L SYNPR_ENST00000460711.1_Missense_Mutation_p.S223L|SYNPR_ENST00000295894.5_Missense_Mutation_p.S212L|SYNPR_ENST00000465156.1_Missense_Mutation_p.S148L|SYNPR_ENST00000479198.1_3'UTR NM_001130003.1 NP_001123475.1 Q8TBG9 SYNPR_HUMAN synaptoporin 212 5 X approximate repeats. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) AGATATCTTTCAGATCCAATG 0.468000 9 31 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21098807 21098807 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr10:21098807C>T ENST00000377122.4 - 25 2935 c.2539G>A c.(2539-2541)Gat>Aat p.D847N NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 847 Linker. 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 GAGCCAGGATCTGTGCGCCAA 0.388000 39 58 0 0 1 0 0 INTS12 57117 broad.mit.edu 37 4 106604163 106604163 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:106604163G>A ENST00000451321.2 - 7 1595 c.1116C>T c.(1114-1116)ggC>ggT p.G372G INTS12_ENST00000394735.1_Silent_p.G372G|INTS12_ENST00000340139.5_Silent_p.G372G NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 372 Ser-rich. snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) AGCGACTAAGGCCAGTTTTAC 0.453000 98 95 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89735075 89735075 + Missense_Mutation SNP A A C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:89735075A>C ENST00000343435.5 - 3 700 c.164T>G c.(163-165)aTg>aGg p.M55R RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.M55R NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 55 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) CAGCTTGTTCATCAGGTAGGA 0.502000 64 110 0 0 1 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68029230 68029230 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:68029230C>T ENST00000329153.5 + 7 1014 c.882C>T c.(880-882)ctC>ctT p.L294L NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 294 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GAGGGATGCTCCCTGGGACAA 0.602000 11 20 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6692231 6692231 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:6692231G>A ENST00000309577.6 - 26 4356 c.4193C>T c.(4192-4194)tCa>tTa p.S1398L RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.S1395L|CHD4_ENST00000357008.2_Missense_Mutation_p.S1370L|CHD4_ENST00000544040.1_Missense_Mutation_p.S1363L|CHD4_ENST00000540960.1_5'UTR Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1370 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACCTTCCTCTGAAGCCACTGA 0.502000 56 60 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2473484 2473484 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:2473484G>A ENST00000258711.6 + 2 1345 c.1210G>A c.(1210-1212)Ggc>Agc p.G404S NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 404 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) TGTTCTCTTCGGCTACCCCAA 0.572000 56 78 0 0 1 0 0 KCNQ1 3784 broad.mit.edu 37 11 2606501 2606501 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:2606501C>T ENST00000155840.5 + 8 1200 c.1092C>T c.(1090-1092)ttC>ttT p.F364F KCNQ1_ENST00000335475.5_Silent_p.F237F NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 364 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) AGAAGCACTTCAACCGGCAGA 0.592000 43 67 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157508948 157508948 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:157508948C>T ENST00000361835.3 - 7 1487 c.1330G>A c.(1330-1332)Ggg>Agg p.G444R FCRL5_ENST00000368190.3_Missense_Mutation_p.G444R|FCRL5_ENST00000368191.3_Missense_Mutation_p.G359R|FCRL5_ENST00000356953.4_Missense_Mutation_p.G444R|FCRL5_ENST00000368189.3_Missense_Mutation_p.G444R NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 444 Ig-like C2-type 4. 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) TAGTAGTTCCCTGAATGCTCT 0.587000 14 37 0 0 1 0 0 SOX13 9580 broad.mit.edu 37 1 204086824 204086824 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:204086824C>T ENST00000367204.1 + 7 873 c.764C>T c.(763-765)cCc>cTc p.P255L SOX13_ENST00000367203.4_3'UTR NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 255 Pro-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CAGCCCATTCCCTGCAAACCA 0.572000 11 18 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49743012 49743012 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:49743012C>T ENST00000327697.6 + 24 2348 c.2204C>T c.(2203-2205)cCc>cTc p.P735L RNF123_ENST00000432042.1_Missense_Mutation_p.P589L NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 735 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GGGCGGCCCCCCGAGGAGCCT 0.647000 24 22 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53657952 53657952 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:53657952C>T ENST00000342160.3 - 11 1254 c.797G>A c.(796-798)gGc>gAc p.G266D HUWE1_ENST00000218328.8_Missense_Mutation_p.G266D|HUWE1_ENST00000262854.6_Missense_Mutation_p.G266D Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 266 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ATTAGAAAAGCCATGGGCCAG 0.378000 36 15 0 0 1 0 0 SPARC 6678 broad.mit.edu 37 5 151047129 151047129 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:151047129C>G ENST00000231061.4 - 7 797 c.484G>C c.(484-486)Gaa>Caa p.E162Q SPARC_ENST00000537849.1_5'UTR NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 162 ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) AGGGGGAATTCGGTCAGCTCA 0.617000 18 38 0 0 1 0 0 POMT2 29954 broad.mit.edu 37 14 77743784 77743784 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:77743784G>A ENST00000261534.4 - 21 2390 c.2188C>T c.(2188-2190)Ccc>Tcc p.P730S NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 730 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) TGGGCCAGGGGACCAACCATC 0.587000 29 45 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100654466 100654466 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:100654466C>T ENST00000358544.2 + 34 5834 c.5723C>T c.(5722-5724)cCt>cTt p.P1908L VPS13B_ENST00000357162.2_Missense_Mutation_p.P1883L|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1908 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) ATTTCTTTTCCTTCAGGGAAA 0.438000 81 128 0 0 1 0 0 SCAMP4 113178 broad.mit.edu 37 19 1917808 1917808 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:1917808C>T ENST00000316097.8 + 3 390 c.123C>T c.(121-123)taC>taT p.Y41Y SCAMP4_ENST00000414057.2_3'UTR|SCAMP4_ENST00000409472.1_Silent_p.Y41Y NM_079834.2 NP_524558.1 Q969E2 SCAM4_HUMAN secretory carrier membrane protein 4 41 protein transport integral to membrane Ovarian(11;2.11e-07)|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) AGAGGATCTACCGGCTGTGGA 0.652000 21 10 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086224 56086224 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:56086224C>T ENST00000312711.1 + 1 442 c.442C>T c.(442-444)Cct>Tct p.P148S NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GGTAGCAATCCCTTACCTCTA 0.428000 34 53 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21245098 21245098 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr16:21245098C>T ENST00000311620.5 + 1 113 c.40C>T c.(40-42)Ctg>Ttg p.L14L NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 14 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) TGATAGTTACCTGGAACTTCT 0.498000 75 44 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17280681 17280681 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:17280681C>T ENST00000331428.5 - 3 671 c.569G>A c.(568-570)cGa>cAa p.R190Q NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 190 integral to membrane|plasma membrane p.R190L(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGGCCATTCTCGTATAGTGAG 0.358000 57 91 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344286 56344286 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:56344286C>T ENST00000526812.2 - 1 977 c.912G>A c.(910-912)atG>atA p.M304I NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 304 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 TTCCCCTAATCATTTGTTGTA 0.373000 103 173 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17483187 17483187 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:17483187G>A ENST00000302539.4 - 5 890 c.765C>T c.(763-765)atC>atT p.I255I ABCC8_ENST00000389817.3_Silent_p.I255I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 255 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCCTCATGGCGATGGGCAGCT 0.587000 54 68 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1719913 1719913 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:1719913C>T ENST00000313871.3 + 5 1710 c.1514C>T c.(1513-1515)gCc>gTc p.A505V NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 505 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 CACCCAGAGGCCGACGGCGCT 0.716000 9 6 0 0 1 0 0 CD8A 925 broad.mit.edu 37 2 87016531 87016531 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:87016531G>A ENST00000409511.2 - 7 1570 c.540C>T c.(538-540)gcC>gcT p.A180A CD8A_ENST00000538832.1_Silent_p.A221A|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000352580.3_Intron|CD8A_ENST00000283635.3_Silent_p.A180A|CD8A_ENST00000409781.1_Silent_p.A143A NM_001145873.1 NP_001139345.1 P01732 CD8A_HUMAN CD8a molecule 180 antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 8 AGATATCACAGGCGAAGTCCA 0.607000 27 57 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13397435 13397435 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:13397435G>A ENST00000360228.5 - 20 3434 c.3435C>T c.(3433-3435)atC>atT p.I1145I CACNA1A_ENST00000573710.2_Silent_p.I1146I 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 1146 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGTTGGTGACGATAAGGCTAT 0.662000 13 25 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053937 11053937 + Missense_Mutation SNP C C T rs140683647 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:11053937C>T ENST00000295082.1 + 1 1875 c.1385C>T c.(1384-1386)cCg>cTg p.P462L NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 462 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) AAGGAGGCGCCGAGCTGCAGC 0.662000 17 38 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21977351 21977351 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:21977351C>T ENST00000381418.4 - 14 4379 c.2899G>A c.(2899-2901)Gga>Aga p.G967R HR_ENST00000312841.8_Missense_Mutation_p.G967R NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 967 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TTGAGTTTTCCATGGAGGGCG 0.642000 53 23 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043401 74043401 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:74043401C>T ENST00000409561.1 + 3 2172 c.2051C>T c.(2050-2052)cCg>cTg p.P684L NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 684 p.P684Q(1)|p.P654Q(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GGTAAAGGCCCGGAGAAAATT 0.517000 33 62 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97529719 97529719 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:97529719G>A ENST00000305476.5 - 11 1406 c.1274C>T c.(1273-1275)gCc>gTc p.A425V NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 425 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 AACCCGGTCGGCCACCAGGTG 0.612000 21 14 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28823694 28823694 + Silent SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:28823694C>G ENST00000422425.2 + 35 2504 c.2460C>G c.(2458-2460)gtC>gtG p.V820V PLB1_ENST00000327757.5_Silent_p.V831V NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 831 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGAGCCAAGTCCAaactctga 0.418000 40 47 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4575311 4575311 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:4575311G>A ENST00000301396.4 - 16 3632 c.3407C>T c.(3406-3408)cCc>cTc p.P1136L PELP1_ENST00000574876.1_Missense_Mutation_p.P992L|PELP1_ENST00000436683.2_Intron|PELP1_ENST00000269230.7_Missense_Mutation_p.P902L|PELP1_ENST00000572293.1_Missense_Mutation_p.P1042L Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 992 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 CACCTTTGGGGGAGACTCAGG 0.642000 8 6 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24188211 24188211 + Nonsense_Mutation SNP C C A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:24188211C>A ENST00000396671.2 - 7 835 c.487G>T c.(487-489)Gaa>Taa p.E163* THRB_ENST00000416420.1_Nonsense_Mutation_p.E163*|THRB_ENST00000356447.4_Nonsense_Mutation_p.E163*|THRB_ENST00000280696.5_Nonsense_Mutation_p.E178* NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 163 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) AAGCGACATTCCTGGCACTGA 0.363000 38 30 1.67305e-13 1.71206e-13 1 1 0 SUPT7L 9913 broad.mit.edu 37 2 27876607 27876607 + Silent SNP C C T rs138396494 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:27876607C>T ENST00000337768.5 - 6 1559 c.990G>A c.(988-990)gaG>gaA p.E330E SUPT7L_ENST00000406540.1_Silent_p.E328E|SUPT7L_ENST00000404798.2_Silent_p.E195E|SUPT7L_ENST00000464789.2_Silent_p.E328E|SUPT7L_ENST00000405491.1_Silent_p.E328E NM_014860.1 NP_055675.1 O94864 ST65G_HUMAN suppressor of Ty 7 (S. cerevisiae)-like 330 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 16 Acute lymphoblastic leukemia(172;0.155) AAGCATTTACCTCTGCACCTA 0.433000 57 91 0 0 1 0 0 PPP2R3C 55012 broad.mit.edu 37 14 35560353 35560353 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:35560353G>A ENST00000261475.5 - 11 1389 c.1036C>T c.(1036-1038)Cta>Tta p.L346L NM_017917.2 NP_060387.2 Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma 346 EF-hand 2. centrosome|nucleus calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) ATATATTGTAGAGCTGCAGGT 0.343000 17 39 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688494 30688494 + Missense_Mutation SNP G G A rs145310510 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:30688494G>A ENST00000215790.7 - 9 1561 c.1397C>T c.(1396-1398)cCa>cTa p.P466L TBC1D10A_ENST00000403362.1_Missense_Mutation_p.P378L|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.P473L|RP1-130H16.18_ENST00000447976.1_Intron NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 466 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity p.P466Q(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CACATGCTGTGGGGGACATGC 0.637000 99 149 0 0 1 0 0 ZRSR1 7310 broad.mit.edu 37 5 112228452 112228452 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:112228452G>A ENST00000391338.1 + 1 1140 c.1116G>A c.(1114-1116)atG>atA p.M372I REEP5_ENST00000513339.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000379638.4_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_3'UTR NM_001204199.1 NP_001191128.1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 breast(1)|skin(1)|stomach(2) 4 GGGAGAAGATGGGCCACCACG 0.493000 20 42 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8862482 8862482 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:8862482G>A ENST00000338037.6 + 32 3664 c.3637G>A c.(3637-3639)Gat>Aat p.D1213N PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1213 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AAAAGAATTTGATACTCCTCT 0.532000 44 71 0 0 1 0 0 HERC5 51191 broad.mit.edu 37 4 89414189 89414189 + Nonsense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:89414189T>A ENST00000264350.3 + 17 2313 c.2160T>A c.(2158-2160)taT>taA p.Y720* HERC5_ENST00000508159.1_Nonsense_Mutation_p.Y358* NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 720 HECT. 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) AAATTGGGTATGACCTCGGAG 0.408000 22 12 0 0 1 0 0 PRLH 51052 broad.mit.edu 37 2 238475807 238475807 + Nonsense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:238475807C>T ENST00000165524.1 + 2 253 c.253C>T c.(253-255)Cag>Tag p.Q85* NM_015893.1 NP_056977.1 P81277 PRRP_HUMAN prolactin releasing hormone 85 extracellular region endometrium(1)|large_intestine(1) 2 Lung NSC(271;0.142)|all_lung(227;0.175) Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249) TATGTCGTCCCAGGATGGCTG 0.632000 17 13 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185198098 185198098 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:185198098G>A ENST00000265026.3 + 13 2914 c.2580G>A c.(2578-2580)gaG>gaA p.E860E TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Silent_p.E653E|MAP3K13_ENST00000443863.1_Silent_p.E716E|MAP3K13_ENST00000424227.1_Silent_p.E860E|MAP3K13_ENST00000535426.1_Silent_p.E716E NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 860 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) ATGGAGAAGAGGGAAATACCA 0.493000 33 90 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87970907 87970907 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:87970907C>T ENST00000369577.3 + 8 7603 c.7560C>T c.(7558-7560)tgC>tgT p.C2520C ZNF292_ENST00000339907.4_Silent_p.C2515C NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ATAACCTCTGCCAGTCAGAAA 0.303000 19 38 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39103614 39103614 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:39103614C>T ENST00000379907.4 + 17 1958 c.1831C>T c.(1831-1833)Cgt>Tgt p.R611C ADAM32_ENST00000519315.1_Missense_Mutation_p.R505C|ADAM32_ENST00000437682.2_Missense_Mutation_p.R512C NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 611 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TTGTGTAAATCGTGAATGTGT 0.343000 16 11 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99441484 99441484 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:99441484C>T ENST00000287042.4 + 2 1627 c.1277C>T c.(1276-1278)gCc>gTc p.A426V KCNS2_ENST00000521839.1_Missense_Mutation_p.A426V NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 426 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) CTTGAGAGTGCCATGCGCAGC 0.498000 96 131 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455077 187455077 + Silent SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:187455077T>C ENST00000307161.5 - 2 1020 c.819A>G c.(817-819)ccA>ccG p.P273P RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 273 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) ACAGCCACTCTGGGATCCTAG 0.498000 54 53 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10969106 10969106 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr21:10969106C>T ENST00000361285.4 - 7 471 c.142G>A c.(142-144)Gga>Aga p.G48R TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000342420.5_Intron NM_199261.2 NP_954870.2 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 48 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) CGGGCTGCTCCTTTAAATTCA 0.468000 54 168 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227945200 227945200 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:227945200G>A ENST00000396625.3 - 24 1969 c.1762C>T c.(1762-1764)Cgg>Tgg p.R588W COL4A4_ENST00000329662.7_Missense_Mutation_p.R588W NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 588 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGTCCATCCCGACCATGTGAT 0.453000 53 95 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36873814 36873814 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr17:36873814C>G ENST00000325718.7 + 11 1872 c.1781C>G c.(1780-1782)tCc>tGc p.S594C CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 594 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CTCAGCCGCTCCCCGTTCACC 0.682000 T MLL AL 35 35 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110465850 110465850 + Missense_Mutation SNP G G T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr1:110465850G>T ENST00000329608.6 + 6 998 c.607G>T c.(607-609)Gcc>Tcc p.A203S CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Missense_Mutation_p.A203S|CSF1_ENST00000369802.3_Missense_Mutation_p.A203S|CSF1_ENST00000344188.5_Missense_Mutation_p.A203S NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 203 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGTGACCCGGCCTCTGTCTC 0.602000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 73 2.67592e-24 2.75313e-24 1 1 0 ITGA4 3676 broad.mit.edu 37 2 182347105 182347105 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:182347105G>A ENST00000397033.2 + 8 1289 c.859G>A c.(859-861)Gat>Aat p.D287N NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 287 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATTCAGCATTGATGAAAAAGA 0.308000 16 23 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44533686 44533686 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr20:44533686C>T ENST00000477313.1 - 8 1371 c.777G>A c.(775-777)gaG>gaA p.E259E PLTP_ENST00000420868.2_Silent_p.E164E|PLTP_ENST00000372420.1_Silent_p.E171E|PLTP_ENST00000372431.3_Silent_p.E259E|PLTP_ENST00000542937.1_Silent_p.E279E|PLTP_ENST00000354050.4_Silent_p.E207E P55058 PLTP_HUMAN phospholipid transfer protein 259 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) TCCGCTCTTCCTCCTGCAGCT 0.637000 33 76 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31326522 31326522 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:31326522C>T ENST00000269197.5 + 12 6710 c.6710C>T c.(6709-6711)cCt>cTt p.P2237L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGCATAGGTCCTTCAAAACTT 0.468000 54 24 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55161422 55161422 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:55161422G>A ENST00000257290.5 + 23 3584 c.3253G>A c.(3253-3255)Gaa>Aaa p.E1085K FIP1L1_ENST00000507166.1_Missense_Mutation_p.E845K NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 1085 Ser-rich. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.E1085K(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AGACCTGGTGGAAGACAGCTT 0.517000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 68 59 0 0 1 0 0 PDE12 201626 broad.mit.edu 37 3 57545484 57545484 + Missense_Mutation SNP A A G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:57545484A>G ENST00000311180.8 + 3 1686 c.1583A>G c.(1582-1584)gAa>gGa p.E528G PDE12_ENST00000487257.1_3'UTR NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 528 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) GGGGAGGAGGAAAGATGCAAT 0.418000 50 50 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104054126 104054126 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:104054126G>A ENST00000388887.2 + 16 1956 c.1752G>A c.(1750-1752)ctG>ctA p.L584L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 584 FAS1 2. 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 GGAAGCTTCTGGAACTCGTCA 0.433000 117 54 0 0 1 0 0 LHFPL2 10184 broad.mit.edu 37 5 77784749 77784749 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:77784749C>T ENST00000380345.2 - 5 1333 c.658G>A c.(658-660)Gag>Aag p.E220K LHFPL2_ENST00000515007.2_Missense_Mutation_p.E220K NM_005779.2 NP_005770.1 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 220 integral to membrane endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 6 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) TTTTTCCCCTCTTCAATTTCT 0.433000 26 85 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121328221 121328221 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:121328221C>T ENST00000297848.3 + 40 4914 c.4644C>T c.(4642-4644)ggC>ggT p.G1548G COL14A1_ENST00000309791.4_Silent_p.G1548G|COL14A1_ENST00000247781.3_Silent_p.G1453G NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1548 Triple-helical region 1 (COL2). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GACGTGATGGCTCACCAGGCC 0.502000 15 26 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51749249 51749249 + Nonsense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:51749249G>A ENST00000395052.3 + 4 1694 c.1460G>A c.(1459-1461)tGg>tAg p.W487* GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 487 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CTCATCCCATGGGCCTCACCC 0.632000 11 10 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143747527 143747527 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:143747527C>T ENST00000408906.2 + 1 67 c.33C>T c.(31-33)ttC>ttT p.F11F NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 11 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) TCACAGAATTCATTCTCCTGG 0.502000 49 85 0 0 1 0 0 SMCO1 255798 broad.mit.edu 37 3 196234913 196234913 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:196234913C>T ENST00000397537.2 - 3 646 c.490G>A c.(490-492)Gat>Aat p.D164N NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 AACGTGACATCCCTGATGTAC 0.463000 37 97 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189864227 189864227 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:189864227C>T ENST00000304636.3 + 31 2323 c.2153C>T c.(2152-2154)gCt>gTt p.A718V COL3A1_ENST00000317840.5_Missense_Mutation_p.A718V NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 718 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) CCACCTGGTGCTGCTGGTACT 0.448000 40 72 0 0 1 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99217284 99217284 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr7:99217284C>T ENST00000394152.2 + 4 382 c.55C>T c.(55-57)Cct>Tct p.P19S ZSCAN25_ENST00000334715.3_Missense_Mutation_p.P19S|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.P19S NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 GTTGGGTATTCCTGTGGTGAA 0.537000 98 149 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995045 140995045 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:140995045G>A ENST00000285879.4 + 4 2141 c.1855G>A c.(1855-1857)Gag>Aag p.E619K MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 619 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTTCAGGGGGAGGAATTCCA 0.572000 HNSCC(15;0.026) 228 96 0 0 1 0 0 UPK1B 7348 broad.mit.edu 37 3 118905613 118905613 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:118905613C>T ENST00000264234.3 + 2 174 c.25C>T c.(25-27)Cgt>Tgt p.R9C UPK1B_ENST00000497685.1_Intron|UPK1B_ENST00000460625.1_Missense_Mutation_p.R9C|RP11-484M3.5_ENST00000490594.1_Intron NM_006952.3 NP_008883.2 O75841 UPK1B_HUMAN uroplakin 1B 9 epithelial cell differentiation integral to membrane structural molecule activity breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14 GBM - Glioblastoma multiforme(114;0.222) CTCAACTGTTCGTTGCTTCCA 0.393000 21 50 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74489343 74489343 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:74489343C>T ENST00000394019.2 - 11 1129 c.732G>A c.(730-732)cgG>cgA p.R244R SLC4A5_ENST00000359484.4_Silent_p.R180R|SLC4A5_ENST00000423644.1_Silent_p.R244R|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Silent_p.R244R|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.R244R|SLC4A5_ENST00000358683.4_Silent_p.R180R|SLC4A5_ENST00000357822.5_Silent_p.R244R|SLC4A5_ENST00000346834.4_Silent_p.R244R NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 244 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CACCAGGGCTCCGGGCAGGAC 0.567000 25 36 0 0 1 0 0 TBC1D5 9779 broad.mit.edu 37 3 17226659 17226659 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:17226659C>T ENST00000253692.7 - 19 3458 c.1794G>A c.(1792-1794)caG>caA p.Q598Q TBC1D5_ENST00000446818.2_Silent_p.Q620Q|TBC1D5_ENST00000429383.4_Silent_p.Q598Q|TBC1D5_ENST00000429924.2_Silent_p.Q572Q|TBC1D5_ENST00000414318.2_5'UTR NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 598 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GGTCATTCAACTGCCCTTGAA 0.383000 31 48 0 0 1 0 0 C11orf87 399947 broad.mit.edu 37 11 109294853 109294853 + Missense_Mutation SNP C C T rs143230091 by1000genomes TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr11:109294853C>T ENST00000327419.6 + 2 897 c.494C>T c.(493-495)cCg>cTg p.P165L 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 87 165 integral to membrane p.P165L(1) breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 TGTGCTCCTCCGCCTCCACCG 0.657000 29 36 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193209159 193209159 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:193209159C>T ENST00000342695.4 - 6 884 c.562G>A c.(562-564)Gat>Aat p.D188N ATP13A4_ENST00000295548.3_Missense_Mutation_p.D188N|ATP13A4_ENST00000392443.3_Missense_Mutation_p.D188N NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 188 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ACTTCAACATCGATAGTATTA 0.363000 32 70 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28576878 28576878 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr18:28576878G>A ENST00000434452.1 - 15 2526 c.2372C>T c.(2371-2373)tCc>tTc p.S791F DSC3_ENST00000360428.4_Missense_Mutation_p.S791F NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 791 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CCCCCGGCAGGATTCCAAGGT 0.507000 31 17 0 0 1 0 0 ESR2 2100 broad.mit.edu 37 14 64724025 64724025 + Missense_Mutation SNP T T A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:64724025T>A ENST00000557772.1 - 5 1009 c.1010A>T c.(1009-1011)gAg>gTg p.E337V ESR2_ENST00000555278.1_Missense_Mutation_p.E337V|ESR2_ENST00000554572.1_Missense_Mutation_p.E337V|ESR2_ENST00000553796.1_Missense_Mutation_p.E337V|ESR2_ENST00000542956.1_Missense_Mutation_p.E337V|ESR2_ENST00000358599.5_Missense_Mutation_p.E337V|ESR2_ENST00000357782.2_Missense_Mutation_p.E337V|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Missense_Mutation_p.E337V|ESR2_ENST00000341099.4_Missense_Mutation_p.E337V|ESR2_ENST00000267525.6_Intron NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 337 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CATTAACACCTCCATCCAACA 0.547000 50 105 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177142361 177142361 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:177142361G>A ENST00000296525.3 - 5 728 c.615C>T c.(613-615)ctC>ctT p.L205L ASB5_ENST00000512254.1_Silent_p.L152L NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 205 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) AAGCTACATAGAGAGGAGTTC 0.418000 33 31 0 0 1 0 0 LRP10 26020 broad.mit.edu 37 14 23346513 23346513 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:23346513C>G ENST00000359591.4 + 7 2610 c.1919C>G c.(1918-1920)cCa>cGa p.P640R LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 640 Pro-rich. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GCCCCAGGGCCACTGCCCTCA 0.677000 76 114 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153896809 153896809 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr4:153896809C>T ENST00000511601.1 + 12 2554 c.2366C>T c.(2365-2367)aCc>aTc p.T789I FHDC1_ENST00000260008.3_Missense_Mutation_p.T789I Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 789 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) TCAGAGGGAACCGACTCCAGA 0.612000 60 66 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123165123 123165123 + Silent SNP T T C TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr9:123165123T>C ENST00000349780.4 - 34 5447 c.5268A>G c.(5266-5268)caA>caG p.Q1756Q CDK5RAP2_ENST00000360190.4_Silent_p.Q1677Q|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Silent_p.Q1715Q|CDK5RAP2_ENST00000360822.3_Silent_p.Q1724Q NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1756 Interaction with CDK5R1 (By similarity).|Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 TGGGAGCCTCTTGGGTTTGAA 0.582000 26 32 0 0 1 0 0 RASD2 23551 broad.mit.edu 37 22 35947954 35947954 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr22:35947954G>A ENST00000216127.4 + 3 1318 c.676G>A c.(676-678)Gac>Aac p.D226N NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 226 Interaction with GNB1, GNB2 and GNB3. locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CAAGGAGATGGACGCCTATGG 0.647000 30 47 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17799532 17799532 + Missense_Mutation SNP C C G TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:17799532C>G ENST00000378814.5 - 22 2754 c.2755G>C c.(2755-2757)Gat>Cat p.D919H KIF13A_ENST00000378816.5_Missense_Mutation_p.D919H|KIF13A_ENST00000378826.2_Missense_Mutation_p.D919H|KIF13A_ENST00000378843.2_Missense_Mutation_p.D919H|KIF13A_ENST00000259711.6_Missense_Mutation_p.D919H NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 919 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TACTGGGCATCCTTGGACTGT 0.502000 18 18 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779647 36779647 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:36779647C>T ENST00000416516.2 - 2 994 c.504G>A c.(502-504)aaG>aaA p.K168K NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 168 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 ACATTGGGCCCTTCCCCATAT 0.562000 42 88 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179408973 179408973 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:179408973C>T ENST00000589042.1 - 345 96207 c.95983G>A c.(95983-95985)Gaa>Aaa p.E31995K TTN_ENST00000591111.1_Missense_Mutation_p.E30354K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23122K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23055K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29427K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22930K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30354 Ig-like 142. 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) TCGCTGTATTCGCTCATACCC 0.408000 36 51 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13759047 13759047 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:13759047C>T ENST00000265104.4 - 61 10431 c.10327G>A c.(10327-10329)Gat>Aat p.D3443N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3443 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTCTGCAGATCCTGCATGGCC 0.547000 Kartagener syndrome 58 228 0 0 1 0 0 C2orf15 150590 broad.mit.edu 37 2 99763946 99763946 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:99763946G>A ENST00000302513.2 + 3 652 c.16G>A c.(16-18)Ggg>Agg p.G6R TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Missense_Mutation_p.G6R NM_144706.2 NP_653307.1 Q8WU43 CB015_HUMAN chromosome 2 open reading frame 15 6 autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1) 6 CTCAACTCTGGGGAAGTTAAG 0.398000 30 61 0 0 1 0 0 SLC25A27 9481 broad.mit.edu 37 6 46623636 46623636 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:46623636C>T ENST00000371347.5 + 2 415 c.163C>T c.(163-165)Ctt>Ttt p.L55F SLC25A27_ENST00000411689.2_Missense_Mutation_p.L55F|SLC25A27_ENST00000452689.2_5'UTR NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 55 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) AGAAGCAGCTCTTGCTCGGTT 0.483000 57 62 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103410646 103410646 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:103410646G>A ENST00000361246.2 - 30 4278 c.3990C>T c.(3988-3990)ctC>ctT p.L1330L NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1330 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CCGTGGCCATGAGCTGGCAGC 0.567000 13 27 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112630426 112630426 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr12:112630426G>A ENST00000550722.1 - 59 9187 c.8792C>T c.(8791-8793)cCc>cTc p.P2931L HECTD4_ENST00000430131.2_Missense_Mutation_p.P2655L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P2905L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGCGGTGGGGGGAGGTGCAAG 0.617000 16 3 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49666134 49666134 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:49666134C>T ENST00000339139.4 - 7 594 c.358G>A c.(358-360)Gat>Aat p.D120N NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 120 extracellular space p.D120H(1) kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TAGACAAAATCTAGGATCTCG 0.423000 59 67 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180432442 180432442 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:180432442G>A ENST00000342868.6 + 8 1155 c.971G>A c.(970-972)aGa>aAa p.R324K NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 324 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TCTGAGAAGAGATTTACAAGG 0.512000 44 82 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10426508 10426508 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr5:10426508G>A ENST00000274140.5 + 24 2512 c.2380G>A c.(2380-2382)Gca>Aca p.A794T MARCH6_ENST00000510792.1_Missense_Mutation_p.A492T|MARCH6_ENST00000503788.1_Missense_Mutation_p.A689T|MARCH6_ENST00000449913.2_Missense_Mutation_p.A746T NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 794 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding p.A794T(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TCAGGTTTACGCAAATGGCAT 0.413000 138 85 0 0 1 0 0 MON1A 84315 broad.mit.edu 37 3 49947863 49947863 + Silent SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:49947863C>T ENST00000417270.1 - 5 1785 c.1092G>A c.(1090-1092)tcG>tcA p.S364S MON1A_ENST00000296473.3_Silent_p.S453S|MON1A_ENST00000455683.2_Silent_p.S291S|CTD-2330K9.3_ENST00000419183.1_Intron Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 356 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CGCGAAAGGACGAGGAGGAAC 0.602000 21 39 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 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 CATTTTGTCTTCCTCCTCCTCCT 0.542 7 264 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 5 5 --- --- --- --- C2orf82 389084 broad.mit.edu 37 2 233740763 233740763 + Frame_Shift_Del DEL C C - TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr2:233740763delC ENST00000409230.1 + 3 434 c.187delC c.(187-189)ccfs p.P64fs C2orf82_ENST00000331342.2_Frame_Shift_Del_p.P64fs|C2orf82_ENST00000409533.1_Frame_Shift_Del_p.P64fs Q6UX34 CB082_HUMAN chromosome 2 open reading frame 82 64 integral to membrane GGACACCGGTCCCCCAGCCCC 0.781 2 4 --- --- --- --- RAD54L2 23132 broad.mit.edu 37 3 51661637 51661637 + Frame_Shift_Del DEL C C - TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:51661637delC ENST00000409535.1 + 3 333 c.208delC c.(208-210)ggfs p.R70fs NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 70 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GCAGCCGCCGCGGTGCACTTC 0.547 4 6 --- --- --- --- CD96 10225 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 5 --- --- --- --- NRROS 375387 broad.mit.edu 37 3 196388426 196388426 + Frame_Shift_Del DEL C C - TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr3:196388426delC ENST00000328557.4 + 3 2115 c.1912delC c.(1912-1914)ctfs p.P638fs NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CGGAGGTGTGCCTCGGGACTG 0.672 62 70 --- --- --- --- DOPEY1 23033 broad.mit.edu 37 6 83832631 83832633 + In_Frame_Del DEL CTT CTT - TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr6:83832631_83832633delCTT ENST00000349129.2 + 12 1530_1532 c.1270_1272delCTT c.(1270-1272)del p.L425del DOPEY1_ENST00000369739.3_In_Frame_Del_p.L416del|DOPEY1_ENST00000237163.5_In_Frame_Del_p.L416del NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 425 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AACTGCTAACCTTCTCTTTAATT 0.281 6 3 --- --- --- --- LINCR-0001 101929191 broad.mit.edu 37 8 10335889 10335903 + RNA DEL GGCTGCAGTGGTTGT GGCTGCAGTGGTTGT - rs55641852 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr8:10335889_10335903delGGCTGCAGTGGTTGT ENST00000517732.1 + 0 223 RP11-981G7.3_ENST00000520494.1_lincRNA GTGGTTGTCAGGCTGCAGTGGTTGTGGCTGCAGTG 0.586 5 5 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409539 22409539 + RNA DEL C C - rs2178778 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:22409539delC ENST00000390441.2 + 0 102 ctctctctctctTTTTTTTTT 0.428 4 5 --- --- --- --- ADCK1 57143 broad.mit.edu 37 14 78399663 78399679 + Frame_Shift_Del DEL CGTGTGAAGGGGTTGAA CGTGTGAAGGGGTTGAA - rs143349230 TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr14:78399663_78399679delCGTGTGAAGGGGTTGAA ENST00000238561.5 + 11 1600_1616 c.1501_1517delCGTGTGAAGGGGTTGAA c.(1501-1518)gfs p.RVKGLK501fs ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Frame_Shift_Del_p.RVKGLK433fs NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 508 extracellular region ATP binding|protein serine/threonine kinase activity p.G436G(1)|p.G504G(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) GCTCATCCTGCGTGTGAAGGGGTTGAAGCTGGCTGAC 0.525 19 98 --- --- --- --- ZNF181 339318 broad.mit.edu 37 19 35232496 35232496 + Frame_Shift_Del DEL C C - TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chr19:35232496delC ENST00000392232.3 + 6 1510 c.1342delC c.(1342-1344)aafs p.Q448fs ZNF181_ENST00000492450.1_Frame_Shift_Del_p.Q404fs|ZNF181_ENST00000459757.1_Frame_Shift_Del_p.Q403fs Q2M3W8 ZN181_HUMAN zinc finger protein 181 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TATGGAGAAACAATATGAATG 0.383 32 67 --- --- --- --- PRICKLE3 4007 broad.mit.edu 37 X 49036095 49036095 + Frame_Shift_Del DEL C C - TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:49036095delC ENST00000376317.3 - 4 467 c.373delG c.(373-375)agfs p.E125fs PRICKLE3_ENST00000376310.3_Frame_Shift_Del_p.E125fs|PRICKLE3_ENST00000536904.1_Intron|PRICKLE3_ENST00000540849.1_Frame_Shift_Del_p.E57fs|PRICKLE3_ENST00000538114.1_Intron NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 125 PET. protein binding|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 CTGTATTTCTCCCCAGGACTG 0.542 2 4 --- --- --- --- AMMECR1 9949 broad.mit.edu 37 X 109561058 109561060 + In_Frame_Del DEL CCG CCG - TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx e103dfb4-279c-40fd-a08f-c47997512d46 d020b46e-6365-4ac8-9874-88cbf9316bf7 g.chrX:109561058_109561060delCCG ENST00000262844.5 - 1 407_409 c.240_242delCGG c.(238-243)ggg>gg p.GG80del AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 80 Gly/Ser-rich. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 GGCGATCCCCCCGCCGCCGCCGC 0.734 2 4 --- --- --- ---