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 TRHDE 29953 broad.mit.edu 37 12 72936070 72936070 + Splice_Site SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:72936070G>C ENST00000261180.4 + 7 1683 c.e7-1 NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CTTTCCTATAGGGTGCTGCTT 0.299000 12 23 0 0 0.479597 0 0 CITED2 10370 broad.mit.edu 37 6 139694818 139694818 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:139694818G>A ENST00000367651.2 - 2 479 c.264C>T c.(262-264)gcC>gcT p.A88A CITED2_ENST00000536159.1_Silent_p.A88A|CITED2_ENST00000537332.1_Silent_p.A88A NM_006079.4 NP_006070.2 Q99967 CITE2_HUMAN Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 88 adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination cytoplasm|nuclear chromatin|nucleus chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1)|lung(4) 5 Breast(32;0.226) GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134) TGGCCGCGGGGGCCAGCGCGC 0.672000 14 10 0 0 0.479597 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322393 79322393 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:79322393C>T ENST00000428286.1 - 8 4920 c.3720G>A c.(3718-3720)gtG>gtA p.V1240V PRUNE2_ENST00000376718.3_Silent_p.V1599V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1599 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTAAATCCTTCACTTTGGTAA 0.368000 6 24 0 0 0.217242 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 142 0 0 0.217242 0 0 CALML5 51806 broad.mit.edu 37 10 5541246 5541246 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:5541246G>T ENST00000380332.3 - 1 287 c.156C>A c.(154-156)ctC>ctA p.L52L NM_017422.4 NP_059118.2 Q9NZT1 CALL5_HUMAN calmodulin-like 5 52 EF-hand 2. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 CCTCGGAGATGAGTTTCCTTA 0.647000 11 51 2.27111e-07 2.57733e-07 0.411799 1 0 FAM47B 170062 broad.mit.edu 37 X 34961974 34961974 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:34961974C>A ENST00000329357.5 + 1 1062 c.1026C>A c.(1024-1026)tcC>tcA p.S342S NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 342 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 ATCGGGTGTCCAGTTTCCTAC 0.577000 28 7 1.06801e-11 1.33999e-11 0.740014 1 0 MYO1F 4542 broad.mit.edu 37 19 8619594 8619594 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:8619594G>T ENST00000338257.8 - 3 442 c.175C>A c.(175-177)Ccc>Acc p.P59T NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 59 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 TGCTTGAAGGGGTTTACAGAG 0.602000 42 18 6.4308e-24 9.9162e-24 0.870114 1 0 SCG2 7857 broad.mit.edu 37 2 224464016 224464016 + Splice_Site SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:224464016T>A ENST00000305409.2 - 2 219 c.e2-2 NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) AAAGATTTCCTTAAAACATAA 0.368000 18 37 0 0 0.592651 0 0 MPP4 58538 broad.mit.edu 37 2 202545596 202545596 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:202545596G>A ENST00000409474.3 - 10 1101 c.894C>T c.(892-894)tgC>tgT p.C298C MPP4_ENST00000428900.2_Silent_p.C298C|MPP4_ENST00000447335.2_Silent_p.C298C|MPP4_ENST00000409143.1_Silent_p.C271C|MPP4_ENST00000396886.3_Silent_p.C254C|MPP4_ENST00000359962.5_Silent_p.C298C|MPP4_ENST00000315506.7_Silent_p.C285C NM_033066.2 NP_149055.1 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) 298 SH3. cytoplasm protein binding kidney(1)|lung(11) 12 CAAGCCCAGCGCAGGTAGCAG 0.532000 OREG0015145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 14 0 0 0.520397 0 0 CLSTN2 64084 broad.mit.edu 37 3 140122646 140122646 + Silent SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:140122646A>T ENST00000458420.3 + 3 598 c.408A>T c.(406-408)acA>acT p.T136T NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 136 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCCACGAGACAGCCTGGAAAA 0.582000 HNSCC(16;0.037) 29 45 0 0 0.779181 0 0 EPHA5 2044 broad.mit.edu 37 4 66356194 66356194 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:66356194T>A ENST00000273854.3 - 5 1903 c.1303A>T c.(1303-1305)Aca>Tca p.T435S EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.T435S|EPHA5_ENST00000354839.4_Missense_Mutation_p.T435S NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 435 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTATAGTTTGTGTGAGCGAGT 0.517000 TSP Lung(17;0.13) 31 39 0 0 0.788014 0 0 MUC5B 727897 broad.mit.edu 37 11 1264283 1264283 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:1264283G>C ENST00000447027.1 + 31 6240 c.6182G>C c.(6181-6183)gGc>gCc p.G2061A MUC5B_ENST00000529681.1_Missense_Mutation_p.G2058A|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2058 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACAACCACGGGCTTCACAGCC 0.652000 37 149 0 0 0.853193 0 0 PSG2 5670 broad.mit.edu 37 19 43579556 43579556 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:43579556C>T ENST00000406487.1 - 3 757 c.659G>A c.(658-660)cGg>cAg p.R220Q NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 220 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CCCTGAGTTCCGTATTTCACA 0.502000 124 222 0 0 0.870114 0 0 FAM179A 165186 broad.mit.edu 37 2 29247040 29247040 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:29247040C>T ENST00000379558.4 + 13 2004 c.1653C>T c.(1651-1653)gcC>gcT p.A551A FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.A496A NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 551 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 CTCACCTGGCCATCAGCACCT 0.612000 10 7 0 0 0.435327 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145727030 145727030 + Missense_Mutation SNP C C A rs141554257 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:145727030C>A ENST00000292539.4 + 11 2248 c.1331C>A c.(1330-1332)cCc>cAc p.P444H PPP1R16A_ENST00000435887.1_Missense_Mutation_p.P444H Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 444 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) AGCACCACCCCCCACACCCTG 0.667000 5 36 5.18039e-06 5.72868e-06 0.278610 1 0 HPD 3242 broad.mit.edu 37 12 122284985 122284985 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:122284985C>T ENST00000543163.1 - 11 1060 c.615G>A c.(613-615)gcG>gcA p.A205A HPD_ENST00000543869.2_5'UTR|HPD_ENST00000289004.4_Silent_p.A244A NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 244 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) TCTTGCCAGGCGCTGGCTCAT 0.592000 26 93 0 0 0.750413 0 0 OR10K2 391107 broad.mit.edu 37 1 158390239 158390239 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:158390239C>T ENST00000314902.2 - 1 417 c.418G>A c.(418-420)Gtg>Atg p.V140M NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) CCCATACACACCCCATGTCCC 0.502000 29 177 0 0 0.796494 0 0 UBXN4 23190 broad.mit.edu 37 2 136528276 136528276 + Nonsense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:136528276C>T ENST00000272638.9 + 8 1104 c.793C>T c.(793-795)Cga>Tga p.R265* UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 265 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 TAGGGCAGCTCGAGAACGTAT 0.363000 8 22 0 0 0.361761 0 0 MAGI1 9223 broad.mit.edu 37 3 65425585 65425585 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:65425585C>T ENST00000330909.8 - 9 1238 c.1239G>A c.(1237-1239)caG>caA p.Q413Q MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 413 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgctgttgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 45 0 0 0.150653 0 0 CCKBR 887 broad.mit.edu 37 11 6292588 6292588 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:6292588C>A ENST00000525462.1 + 4 1369 c.1366C>A c.(1366-1368)Ccc>Acc p.P456T CCKBR_ENST00000532715.1_Missense_Mutation_p.P303T|CCKBR_ENST00000334619.2_Missense_Mutation_p.P387T P32239 GASR_HUMAN cholecystokinin B receptor 387 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CTGTGTCAACCCCCTGGTCTA 0.652000 25 109 2.90539e-05 3.13286e-05 0.729181 1 0 PKD2L2 27039 broad.mit.edu 37 5 137257391 137257391 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:137257391C>A ENST00000508883.1 + 9 1421 c.1395C>A c.(1393-1395)atC>atA p.I465I PKD2L2_ENST00000508638.1_Intron|PKD2L2_ENST00000502810.1_Silent_p.I443I|PKD2L2_ENST00000290431.5_Silent_p.I465I|PKD2L2_ENST00000350250.4_Silent_p.I431I Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 465 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CCAATCCTATCTTGGGACCCA 0.303000 33 8 1.69901e-12 2.18136e-12 0.812448 1 0 POTEE 445582 broad.mit.edu 37 2 131976233 131976233 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:131976233C>T ENST00000356920.5 + 1 352 c.258C>T c.(256-258)caC>caT p.H86H PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.H86H|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 86 ATP binding CTGGAGACCACGACGACTCTG 0.602000 34 82 0 0 0.864702 0 0 USP29 57663 broad.mit.edu 37 19 57642466 57642466 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:57642466A>T ENST00000254181.4 + 4 2877 c.2423A>T c.(2422-2424)aAg>aTg p.K808M USP29_ENST00000598197.1_Missense_Mutation_p.K808M NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 808 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGTGAAGCCAAGGAACTAACA 0.483000 9 12 0 0 0.335167 0 0 CACNA1A 773 broad.mit.edu 37 19 13414675 13414675 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:13414675G>A ENST00000360228.5 - 16 2009 c.2010C>T c.(2008-2010)aaC>aaT p.N670N CACNA1A_ENST00000573710.2_Silent_p.N671N 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 671 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) ACATGACCTCGTTCCAGTCTT 0.582000 100 147 0 0 0.870114 0 0 DNAH9 1770 broad.mit.edu 37 17 11687628 11687628 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:11687628C>A ENST00000262442.3 + 41 7901 c.7833C>A c.(7831-7833)agC>agA p.S2611R DNAH9_ENST00000454412.2_Missense_Mutation_p.S2611R NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2611 AAA 3 (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) GTCACTTCAGCGTGTTTGTCC 0.507000 87 380 6.23295e-54 1.12751e-53 0.870114 1 0 MYT1L 23040 broad.mit.edu 37 2 1926499 1926499 + Nonsense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:1926499C>A ENST00000399161.2 - 10 1789 c.1042G>T c.(1042-1044)Gag>Tag p.E348* MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E348* NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 348 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGATTCCTCTCCTGCGGGTTG 0.572000 13 42 6.31663e-08 7.29119e-08 0.479597 1 0 MARCH6 10299 broad.mit.edu 37 5 10402693 10402693 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:10402693G>A ENST00000274140.5 + 14 1303 c.1171G>A c.(1171-1173)Ggt>Agt p.G391S MARCH6_ENST00000510792.1_Missense_Mutation_p.G89S|MARCH6_ENST00000449913.2_Missense_Mutation_p.G343S|MARCH6_ENST00000503788.1_Missense_Mutation_p.G286S NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 391 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TCTCATTTGTGGTTGGTGGCT 0.363000 86 715 0 0 0.870114 0 0 OR13F1 138805 broad.mit.edu 37 9 107266605 107266605 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:107266605C>A ENST00000334726.2 + 1 151 c.62C>A c.(61-63)cCc>cAc p.P21H NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TTTCACTACCCCAAAGTTCAG 0.408000 27 45 7.38237e-10 8.8239e-10 0.706142 1 0 GNG8 94235 broad.mit.edu 37 19 47137359 47137359 + Missense_Mutation SNP T T G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:47137359T>G ENST00000300873.4 - 2 189 c.187A>C c.(187-189)Aag>Cag p.K63Q NM_033258.1 NP_150283.1 Q9UK08 GBG8_HUMAN guanine nucleotide binding protein (G protein), gamma 8 63 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325) AAGAGGCGCTTGTCGCGGAAG 0.597000 23 22 0 0 0.693898 0 0 GJB3 2707 broad.mit.edu 37 1 35250702 35250702 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:35250702C>T ENST00000373366.2 + 2 954 c.339C>T c.(337-339)tgC>tgT p.C113C GJB3_ENST00000373362.3_Silent_p.C113C|RP1-34M23.5_ENST00000542839.1_RNA NM_024009.2 NP_076872.1 O75712 CXB3_HUMAN gap junction protein, beta 3, 31kDa 113 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GGGACCAGTGCGCCAAGCTGT 0.602000 30 62 0 0 0.760397 0 0 GATA6 2627 broad.mit.edu 37 18 19780748 19780748 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:19780748G>T ENST00000269216.3 + 7 2027 c.1750G>T c.(1750-1752)Gtg>Ttg p.V584L GATA6_ENST00000581694.1_Missense_Mutation_p.V584L|RP11-627G18.1_ENST00000583442.1_RNA NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 584 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) CACGTCCTCCGTGCGACCGGA 0.662000 23 21 7.38237e-10 8.8239e-10 0.706142 1 0 CD200R1L 344807 broad.mit.edu 37 3 112538736 112538736 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:112538736C>A ENST00000488794.1 - 7 1212 c.623G>T c.(622-624)aGa>aTa p.R208I CD200R1L_ENST00000398214.1_Missense_Mutation_p.R229I|CD200R1L_ENST00000448932.1_Missense_Mutation_p.R208I Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 229 Ig-like C2-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TCCTGAGGTTCTGAGACCTTT 0.348000 26 39 1.74807e-11 2.18419e-11 0.750413 1 0 SSPO 23145 broad.mit.edu 37 7 149521602 149521602 + RNA SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:149521602G>T ENST00000378016.2 + 0 13681 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGACCCAACTGGCCTCTCCCC 0.711000 22 55 1.08312e-15 1.47168e-15 0.740014 1 0 PLXNA4 91584 broad.mit.edu 37 7 131831290 131831290 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:131831290C>A ENST00000359827.3 - 28 5996 c.5034G>T c.(5032-5034)ctG>ctT p.L1678L PLXNA4_ENST00000321063.4_Silent_p.L1678L Q9HCM2 PLXA4_HUMAN plexin A4 1678 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGAGTCGGGTCAGGTAGATTT 0.562000 104 317 5.753e-54 1.04381e-53 0.870114 1 0 MIR129-1 406917 broad.mit.edu 37 7 127847924 127847924 + RNA SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:127847924T>A ENST00000384972.1 + 0 1 NR_029596.1 CTGTCTCCTTTGGATCTTTTT 0.607000 3 17 0 0 0.150653 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110463299 110463299 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:110463299C>A ENST00000378402.5 + 41 6375 c.6271C>A c.(6271-6273)Cca>Aca p.P2091T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2091 IPT/TIG 14. 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) GTCACTGACTCCACTCATCAC 0.517000 HNSCC(38;0.096) OREG0018931 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 69 2.32416e-17 3.26028e-17 0.624587 1 0 KCNJ16 3773 broad.mit.edu 37 17 68128272 68128272 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:68128272C>A ENST00000585558.1 + 4 537 c.149C>A c.(148-150)gCa>gAa p.A50E KCNJ16_ENST00000589377.1_Missense_Mutation_p.A15E|KCNJ16_ENST00000586462.1_Missense_Mutation_p.A54E|KCNJ16_ENST00000283936.1_Missense_Mutation_p.A15E|KCNJ16_ENST00000392670.1_Missense_Mutation_p.A15E|KCNJ16_ENST00000392671.1_Missense_Mutation_p.A15E Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 15 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) AATGCGGACGCAAAATACCCA 0.438000 14 63 2.62699e-14 3.49113e-14 0.479597 1 0 RYR2 6262 broad.mit.edu 37 1 237664091 237664091 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:237664091A>T ENST00000366574.2 + 21 2601 c.2284A>T c.(2284-2286)Agt>Tgt p.S762C RYR2_ENST00000360064.6_Missense_Mutation_p.S760C|RYR2_ENST00000542537.1_Missense_Mutation_p.S746C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 762 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTAGATCTGAGTGCCCCAAG 0.418000 78 263 0 0 0.870114 0 0 C10orf62 414157 broad.mit.edu 37 10 99350165 99350165 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:99350165C>T ENST00000370640.3 + 1 716 c.511C>T c.(511-513)Ctc>Ttc p.L171F HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron NM_001009997.2 NP_001009997.2 Q5T681 CJ062_HUMAN chromosome 10 open reading frame 62 171 protein binding endometrium(2)|kidney(1)|lung(1) 4 Colorectal(252;0.162) Epithelial(162;9.58e-11)|all cancers(201;8.62e-09) GCTGAGGGCCCTCGAGGAGGT 0.567000 36 57 0 0 0.870114 0 0 HAT1 8520 broad.mit.edu 37 2 172841109 172841109 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:172841109C>T ENST00000264108.4 + 9 873 c.837C>T c.(835-837)tcC>tcT p.S279S HAT1_ENST00000392584.1_Silent_p.S194S|SLC25A12_ENST00000472748.1_Intron NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 279 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) AAGATCCATCCAAAAGCTATG 0.328000 10 43 0 0 0.479597 0 0 ABCC9 10060 broad.mit.edu 37 12 22069983 22069983 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:22069983T>C ENST00000261200.4 - 4 460 c.461A>G c.(460-462)aAg>aGg p.K154R ABCC9_ENST00000345162.2_Missense_Mutation_p.K154R|ABCC9_ENST00000261201.4_Missense_Mutation_p.K154R NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 154 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) CTGACAGTACTTAACCAATTT 0.388000 12 534 0 0 0.520397 0 0 FLNC 2318 broad.mit.edu 37 7 128482943 128482943 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:128482943T>C ENST00000325888.8 + 16 2746 c.2485T>C c.(2485-2487)Ttc>Ctc p.F829L FLNC_ENST00000346177.6_Missense_Mutation_p.F829L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 829 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CAACGACACCTTCACCGTCAA 0.587000 21 64 0 0 0.667858 0 0 UTRN 7402 broad.mit.edu 37 6 144852199 144852199 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:144852199G>T ENST00000367545.3 + 41 5918 c.5918G>T c.(5917-5919)aGg>aTg p.R1973M NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1973 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TGTTTTGACAGGGCAATGGAA 0.378000 10 15 0.457914 0.45943 0.457914 1 0 ELP5 23587 broad.mit.edu 37 17 7155850 7155850 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:7155850G>T ENST00000574993.1 + 1 246 c.29G>T c.(28-30)gGg>gTg p.G10V ELP5_ENST00000354429.2_Missense_Mutation_p.G10V|ELP5_ENST00000396627.2_Missense_Mutation_p.G10V|ELP5_ENST00000574255.1_Missense_Mutation_p.G10V|ELP5_ENST00000356683.2_Missense_Mutation_p.G10V|ELP5_ENST00000396628.2_Missense_Mutation_p.G10V|ELP5_ENST00000573657.1_Missense_Mutation_p.G10V|RP1-4G17.5_ENST00000577138.1_Intron elongator acetyltransferase complex subunit 5 GCCAGAGCAGGGACCGGACGC 0.667000 26 37 6.07407e-21 8.97778e-21 0.717897 1 0 TACC2 10579 broad.mit.edu 37 10 123970691 123970691 + Missense_Mutation SNP G G C rs114482287 byFrequency TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:123970691G>C ENST00000369005.1 + 9 7091 c.6751G>C c.(6751-6753)Ggg>Cgg p.G2251R TACC2_ENST00000515603.1_Missense_Mutation_p.G2206R|TACC2_ENST00000360561.3_Missense_Mutation_p.G329R|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.G397R|TACC2_ENST00000453444.2_Missense_Mutation_p.G2255R|TACC2_ENST00000334433.3_Missense_Mutation_p.G2251R|TACC2_ENST00000369004.3_Missense_Mutation_p.G329R|TACC2_ENST00000368999.1_Missense_Mutation_p.G329R|TACC2_ENST00000515273.1_Missense_Mutation_p.G2255R|TACC2_ENST00000358010.1_Missense_Mutation_p.G397R|TACC2_ENST00000260733.3_Missense_Mutation_p.G329R|TACC2_ENST00000369001.1_5'UTR NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2251 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ATCGGATAGCGGGGGGCAAGA 0.597000 10 34 0 0 0.435327 0 0 RIMS2 9699 broad.mit.edu 37 8 104922627 104922627 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:104922627A>G ENST00000262231.10 + 3 1375 c.1127A>G c.(1126-1128)aAg>aGg p.K376R RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 599 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAGAGACAAAAGGAAATGATG 0.438000 HNSCC(12;0.0054) 4 110 0 0 0.248553 0 0 C1orf94 84970 broad.mit.edu 37 1 34663306 34663306 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:34663306G>T ENST00000488417.1 + 2 921 c.801G>T c.(799-801)aaG>aaT p.K267N C1orf94_ENST00000373374.3_Missense_Mutation_p.K77N NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 77 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GGGTCACCAAGGACTTCCTAC 0.572000 31 24 1.22384e-17 1.72075e-17 0.769981 1 0 PPCDC 60490 broad.mit.edu 37 15 75320694 75320694 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:75320694C>A ENST00000342932.3 + 2 179 c.35C>A c.(34-36)cCc>cAc p.P12H PPCDC_ENST00000567336.1_Missense_Mutation_p.P12H|PPCDC_ENST00000564923.1_Missense_Mutation_p.P12H|PPCDC_ENST00000568649.1_Missense_Mutation_p.P12H NM_021823.3 NP_068595.3 Q96CD2 COAC_HUMAN phosphopantothenoylcysteine decarboxylase 12 coenzyme A biosynthetic process|pantothenate metabolic process cytosol phosphopantothenoylcysteine decarboxylase activity breast(1)|cervix(1) 2 GCTGCTGCACCCTTGATGGAG 0.552000 13 25 6.72482e-11 8.33383e-11 0.479597 1 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032183 46032183 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr21:46032183T>C ENST00000334662.2 + 1 188 c.166T>C c.(166-168)Tgt>Cgt p.C56R TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 56 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 GCCCCGCTCCTGTGCCTCCAG 0.672000 31 90 0 0 0.750413 0 0 GPNMB 10457 broad.mit.edu 37 7 23296663 23296663 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:23296663A>G ENST00000258733.4 + 4 815 c.520A>G c.(520-522)Atc>Gtc p.I174V GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000381990.2_Missense_Mutation_p.I174V|GPNMB_ENST00000409458.3_Missense_Mutation_p.I174V|GPNMB_ENST00000539136.1_Missense_Mutation_p.I75V Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 174 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) ATGGAATTTCATCTACGTCTT 0.443000 37 88 0 0 0.870114 0 0 MYPN 84665 broad.mit.edu 37 10 69966659 69966659 + Splice_Site SNP C C A rs142307556 byFrequency TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:69966659C>A ENST00000358913.5 + 19 4280 c.3793_splice c.e19+1 p.Y1264_splice MYPN_ENST00000540630.1_Splice_Site_p.Y1264_splice|MYPN_ENST00000354393.2_Splice_Site_p.Y989_splice NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1264 Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TGGATATATACGGTAAGTGTA 0.443000 16 14 2.4624e-09 2.9088e-09 0.575678 1 0 DUSP26 78986 broad.mit.edu 37 8 33449635 33449635 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:33449635C>A ENST00000256261.4 - 4 1049 c.532G>T c.(532-534)Gcc>Tcc p.A178S DUSP26_ENST00000523956.1_Missense_Mutation_p.A178S NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 178 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) TTCTTGATGGCCTCCACGAGG 0.627000 31 18 9.17885e-22 1.37683e-21 0.779181 1 0 POU3F4 5456 broad.mit.edu 37 X 82763989 82763989 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:82763989G>T ENST00000373200.2 + 1 721 c.657G>T c.(655-657)ctG>ctT p.L219L RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 219 POU-specific. sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 GGTTGGCGCTGGGCACACTGT 0.522000 12 71 2.79863e-10 3.39194e-10 0.681144 1 0 CYP24A1 1591 broad.mit.edu 37 20 52775623 52775623 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:52775623G>C ENST00000216862.3 - 8 1423 c.1030C>G c.(1030-1032)Cgt>Ggt p.R344G CYP24A1_ENST00000395954.3_Missense_Mutation_p.R202G|CYP24A1_ENST00000395955.3_Missense_Mutation_p.R344G NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 344 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TGGGGATTACGGGATAAATTG 0.378000 56 31 0 0 0.870114 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558659 113558659 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:113558659C>A ENST00000284601.3 - 1 461 c.393G>T c.(391-393)gaG>gaT p.E131D NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 131 CBM21. 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 ACTCAGTTGACTCCAGTATTG 0.353000 19 52 1.10923e-09 1.32322e-09 0.639603 1 0 SOGA2 23255 broad.mit.edu 37 18 8825652 8825652 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:8825652G>A ENST00000359865.3 + 15 4286 c.4144G>A c.(4144-4146)Gaa>Aaa p.E1382K SOGA2_ENST00000306329.11_Missense_Mutation_p.E1701K|SOGA2_ENST00000306285.7_Missense_Mutation_p.E707K|SOGA2_ENST00000518815.1_Missense_Mutation_p.E707K|SOGA2_ENST00000400050.3_Missense_Mutation_p.E1341K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E1341K NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1692 GGCCAAGTTTGAACGCACATG 0.612000 9 25 0 0 0.387290 0 0 RIT1 6016 broad.mit.edu 37 1 155870234 155870234 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:155870234C>G ENST00000368323.3 - 6 809 c.605G>C c.(604-606)aGt>aCt p.S202T RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000539040.1_Missense_Mutation_p.S166T|RIT1_ENST00000368322.3_Missense_Mutation_p.S219T NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 202 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) CTTCCATACACTGTTTTTGGG 0.403000 79 507 0 0 0.870114 0 0 ZP4 57829 broad.mit.edu 37 1 238046127 238046127 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:238046127G>T ENST00000366570.4 - 11 1568 c.1410C>A c.(1408-1410)aaC>aaA p.N470K RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 470 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCTGAGAACTGTTGTCAAAAT 0.423000 17 62 4.7546e-09 5.57309e-09 0.500413 1 0 CCDC150 284992 broad.mit.edu 37 2 197541439 197541439 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:197541439A>G ENST00000389175.4 + 12 1559 c.1424A>G c.(1423-1425)gAa>gGa p.E475G CCDC150_ENST00000272831.7_Missense_Mutation_p.E143G|CCDC150_ENST00000423093.2_Missense_Mutation_p.E143G|CCDC150_ENST00000472405.2_3'UTR NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 475 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GAGGAGAAAGAAAGATTTCAG 0.373000 18 60 0 0 0.639603 0 0 P4HA1 5033 broad.mit.edu 37 10 74813307 74813307 + Nonsense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:74813307C>A ENST00000412021.2 - 7 838 c.505G>T c.(505-507)Gag>Tag p.E169* P4HA1_ENST00000394890.2_Nonsense_Mutation_p.E169*|P4HA1_ENST00000307116.2_Nonsense_Mutation_p.E169*|P4HA1_ENST00000263556.3_Nonsense_Mutation_p.E169*|P4HA1_ENST00000373008.2_Nonsense_Mutation_p.E169*|P4HA1_ENST00000440381.1_Nonsense_Mutation_p.E169* NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 169 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TTGCCCAACTCAAAGCAGTCC 0.398000 18 73 1.50039e-11 1.87859e-11 0.608945 1 0 NRCAM 4897 broad.mit.edu 37 7 107820809 107820809 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:107820809G>A ENST00000379028.3 - 25 3179 c.2709C>T c.(2707-2709)atC>atT p.I903I NRCAM_ENST00000425651.2_Silent_p.I903I|NRCAM_ENST00000413765.2_Silent_p.I884I|NRCAM_ENST00000379022.4_Silent_p.I903I|NRCAM_ENST00000379024.4_Silent_p.I884I|NRCAM_ENST00000351718.4_Silent_p.I887I Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 903 Fibronectin type-III 3. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 GGAAGGTGAGGATCTTTTTCT 0.473000 22 23 0 0 0.667858 0 0 SEPT1 1731 broad.mit.edu 37 16 30391298 30391298 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:30391298G>T ENST00000321367.3 - 8 801 c.756C>A c.(754-756)gaC>gaA p.D252E SEPT1_ENST00000605106.1_Missense_Mutation_p.D210E|SEPT1_ENST00000571393.1_Missense_Mutation_p.D205E NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 205 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) CTTCATCAGAGTCACATTCGG 0.507000 67 58 5.42381e-49 9.72434e-49 0.870114 1 0 PDGFRB 5159 broad.mit.edu 37 5 149509368 149509368 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:149509368G>A ENST00000261799.4 - 10 2000 c.1531C>T c.(1531-1533)Cgc>Tgc p.R511C NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 511 Ig-like C2-type 5. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ACAGCGTTGCGCAGCGTGCAG 0.622000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" OREG0016927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 6 0 0 0.819951 0 0 TRIM21 6737 broad.mit.edu 37 11 4411619 4411619 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:4411619C>A ENST00000254436.7 - 2 133 c.21G>T c.(19-21)ttG>ttT p.L7F TRIM21_ENST00000543625.1_Missense_Mutation_p.L7F NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 7 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) ACATCATTGTCAAGCGTGCTG 0.532000 17 82 3.8784e-16 5.30545e-16 0.608945 1 0 SMG6 23293 broad.mit.edu 37 17 2203823 2203823 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:2203823T>A ENST00000544865.1 - 2 641 c.131A>T c.(130-132)aAa>aTa p.K44I SMG6_ENST00000263073.5_Missense_Mutation_p.K75I Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 75 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AATTTCATCTTTGAATTCCTC 0.448000 39 60 0 0 0.870114 0 0 UNC13A 23025 broad.mit.edu 37 19 17753678 17753678 + Silent SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:17753678A>G ENST00000428389.2 - 21 2711 c.2712T>C c.(2710-2712)caT>caC p.H904H UNC13A_ENST00000519716.2_Silent_p.H816H|UNC13A_ENST00000252773.7_Silent_p.H816H|UNC13A_ENST00000552293.1_Silent_p.H816H|UNC13A_ENST00000551649.1_Silent_p.H816H|UNC13A_ENST00000550896.1_Silent_p.H814H Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 816 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TGTACTGGACATGGTACGGGG 0.592000 8 6 0 0 0.335167 0 0 PEAR1 375033 broad.mit.edu 37 1 156877971 156877971 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:156877971G>T ENST00000338302.3 + 10 1179 c.954G>T c.(952-954)acG>acT p.T318T PEAR1_ENST00000292357.7_Silent_p.T318T Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 318 EGF-like 4. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTGCTGAGACGTGCGACTGCG 0.716000 4 60 0.248553 0.250204 0.248553 1 0 ATG9B 285973 broad.mit.edu 37 7 150715482 150715482 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:150715482G>T ENST00000605938.1 - 7 1846 c.1771C>A c.(1771-1773)Cag>Aag p.Q591K ATG9B_ENST00000377974.2_Missense_Mutation_p.Q591K|ATG9B_ENST00000444312.1_Missense_Mutation_p.Q77K|ATG9B_ENST00000494791.1_5'UTR NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 591 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGGCTGTCTGCAGCAGGAGC 0.692000 OREG0018444 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 28 6.94344e-10 8.33213e-10 0.539581 1 0 PCDH7 5099 broad.mit.edu 37 4 30724787 30724787 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:30724787C>A ENST00000361762.2 + 1 2751 c.1743C>A c.(1741-1743)atC>atA p.I581I PCDH7_ENST00000543491.1_Silent_p.I581I NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 581 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TGATGGGGATCTTTGCCATCG 0.572000 17 31 8.00594e-06 8.78913e-06 0.557998 1 0 FRMD4A 55691 broad.mit.edu 37 10 13789739 13789739 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:13789739T>C ENST00000357447.2 - 9 913 c.545A>G c.(544-546)tAc>tGc p.Y182C FRMD4A_ENST00000342409.2_Missense_Mutation_p.Y198C|FRMD4A_ENST00000378503.1_Missense_Mutation_p.Y182C|FRMD4A_ENST00000358621.4_Missense_Mutation_p.Y167C|RP11-353M9.1_ENST00000449462.1_RNA NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 182 FERM. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GTCTTACCAGTAGGCCAGGGA 0.592000 20 75 0 0 0.592651 0 0 NTRK3 4916 broad.mit.edu 37 15 88690617 88690617 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:88690617C>A ENST00000394480.1 - 6 734 c.413G>T c.(412-414)cGg>cTg p.R138L NTRK3_ENST00000542733.2_Missense_Mutation_p.R40L|NTRK3_ENST00000357724.2_Missense_Mutation_p.R138L|NTRK3_ENST00000540489.2_Missense_Mutation_p.R138L|NTRK3_ENST00000557856.1_Missense_Mutation_p.R138L|NTRK3_ENST00000558676.1_Missense_Mutation_p.R138L|NTRK3_ENST00000360948.2_Missense_Mutation_p.R138L|NTRK3_ENST00000317501.3_Missense_Mutation_p.R138L|NTRK3_ENST00000355254.2_Missense_Mutation_p.R138L NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 138 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) TGTGGTGAGCCGGTTACTTGA 0.428000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 12 22 7.03913e-09 8.23496e-09 0.411799 1 0 ASRGL1 80150 broad.mit.edu 37 11 62156689 62156689 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:62156689A>T ENST00000415229.2 + 5 791 c.576A>T c.(574-576)aaA>aaT p.K192N ASRGL1_ENST00000535727.1_Missense_Mutation_p.K64N|ASRGL1_ENST00000301776.5_Missense_Mutation_p.K192N NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 192 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) TCGTTAATAAAATGGTCGGCC 0.552000 25 67 0 0 0.769981 0 0 DIP2C 22982 broad.mit.edu 37 10 329265 329265 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:329265C>A ENST00000280886.6 - 35 4328 c.4241G>T c.(4240-4242)cGc>cTc p.R1414L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1414 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GTAGCCTGTGCGTGCCCAGAT 0.547000 26 51 4.59853e-10 5.54018e-10 0.693898 1 0 ITGB2 3689 broad.mit.edu 37 21 46326915 46326915 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr21:46326915G>T ENST00000397850.2 - 5 695 c.243C>A c.(241-243)ccC>ccA p.P81P ITGB2_ENST00000355153.4_Silent_p.P81P|ITGB2_ENST00000302347.5_Silent_p.P81P|ITGB2_ENST00000397857.1_Silent_p.P81P|ITGB2_ENST00000397852.1_Silent_p.P81P|ITGB2_ENST00000397854.3_Silent_p.P81P P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 81 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) CGAGGCTTGTGGGGTCCATGA 0.617000 75 52 8.34767e-46 1.49224e-45 0.870114 1 0 CFH 3075 broad.mit.edu 37 1 196696020 196696020 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:196696020G>T ENST00000367429.4 + 14 2426 c.2186G>T c.(2185-2187)aGa>aTa p.R729I NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 729 Sushi 12. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ATTGGACACAGATCAATTACG 0.383000 26 141 6.00712e-18 8.48559e-18 0.760397 1 0 PCDHA10 56139 broad.mit.edu 37 5 140236161 140236161 + Silent SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:140236161T>C ENST00000307360.5 + 1 528 c.528T>C c.(526-528)taT>taC p.Y176Y PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.Y176Y|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAATGAGTATTTTGTTCTTG 0.408000 27 39 0 0 0.717897 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366681 40366681 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:40366681G>C ENST00000406785.1 - 7 2486 c.2297C>G c.(2296-2298)gCg>gGg p.A766G SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A802G|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A797G|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A766G|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A794G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A766G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A797G|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A766G|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A802G|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A766G|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 802 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AATGAAACACGCCCAGCCATT 0.507000 49 36 0 0 0.870114 0 0 PRKCG 5582 broad.mit.edu 37 19 54410140 54410140 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:54410140C>T ENST00000263431.3 + 18 2367 c.2085C>T c.(2083-2085)ccC>ccT p.P695P PRKCG_ENST00000542049.1_Silent_p.P546P|PRKCG_ENST00000540413.1_Silent_p.P695P NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 695 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TGCCTGTGCCCGTCATGTAAT 0.677000 OREG0025667 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 32 0 0 0.681144 0 0 ABCA13 154664 broad.mit.edu 37 7 48311621 48311621 + Silent SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:48311621T>C ENST00000435803.1 + 17 2382 c.2358T>C c.(2356-2358)tcT>tcC p.S786S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 786 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GAGACCCATCTGCCACTGATG 0.403000 7 28 0 0 0.278610 0 0 TRBV10-1 28585 broad.mit.edu 37 7 142231979 142231979 + RNA SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:142231979C>A ENST00000390364.3 - 0 111 CTCACCTGCCCACAGCAGACA 0.567000 22 44 1.2476e-16 1.7222e-16 0.706142 1 0 TRBV7-3 28595 broad.mit.edu 37 7 142247158 142247158 + RNA SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:142247158G>T ENST00000390361.3 - 0 347 CGCTCTGTGCGCTGGATCTTC 0.567000 30 92 8.73648e-17 1.20875e-16 0.796494 1 0 ASPA 443 broad.mit.edu 37 17 3384912 3384912 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:3384912A>C ENST00000263080.2 + 2 410 c.252A>C c.(250-252)gaA>gaC p.E84D SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.E84D NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 84 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) AAATGTCAGAAGATTTGCCAT 0.313000 8 17 0 0 0.361761 0 0 TP53 7157 broad.mit.edu 37 17 7576897 7576897 + Nonsense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:7576897G>A ENST00000420246.2 - 9 1081 c.949C>T c.(949-951)Cag>Tag p.Q317* TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 317 Interaction with CARM1.|Interaction with HIPK1 (By similarity). Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTTTGGCTGGGGAGAGGAG 0.473000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 85 10 0 0 0.870114 0 0 NLRP3 114548 broad.mit.edu 37 1 247582177 247582177 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:247582177G>T ENST00000366497.2 + 2 861 c.81G>T c.(79-81)atG>atT p.M27I NLRP3_ENST00000366496.2_Missense_Mutation_p.M27I|NLRP3_ENST00000391827.2_Missense_Mutation_p.M27I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.M27I|NLRP3_ENST00000348069.2_Missense_Mutation_p.M27I|NLRP3_ENST00000391828.3_Missense_Mutation_p.M27I NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 27 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AATTTAAGATGCACTTAGAGG 0.547000 15 24 0.000422831 0.000445628 0.500413 1 0 OR2H1 26716 broad.mit.edu 37 6 29430303 29430303 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:29430303G>C ENST00000377136.1 + 4 1222 c.757G>C c.(757-759)Gtc>Ctc p.V253L OR2H1_ENST00000396792.2_Missense_Mutation_p.V253L|OR2H1_ENST00000377132.1_Missense_Mutation_p.V253L|OR2H1_ENST00000377133.1_Missense_Mutation_p.V253L|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.V253L Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 CTACAGCTCAGTCATTGCTGT 0.537000 56 57 0 0 0.870114 0 0 IGFBP2 3485 broad.mit.edu 37 2 217525361 217525361 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:217525361G>T ENST00000233809.4 + 2 653 c.524G>T c.(523-525)aGt>aTt p.S175I IGFBP2_ENST00000456764.1_Missense_Mutation_p.S31I NM_000597.2 NP_000588.2 P18065 IBP2_HUMAN insulin-like growth factor binding protein 2, 36kDa 175 positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway extracellular space insulin-like growth factor I binding|insulin-like growth factor II binding endometrium(2)|large_intestine(1)|lung(2) 5 Renal(323;0.0458) Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968) GGGGGAGGCAGTGCTGGCCGG 0.612000 14 45 1.02788e-11 1.29501e-11 0.520397 1 0 ZIM3 114026 broad.mit.edu 37 19 57647194 57647194 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:57647194C>A ENST00000269834.1 - 5 896 c.511G>T c.(511-513)Gcc>Tcc p.A171S NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTTCTACAGGCATTACATTTC 0.378000 42 88 1.00776e-21 1.5079e-21 0.870114 1 0 NECAB2 54550 broad.mit.edu 37 16 84012099 84012099 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:84012099G>A ENST00000305202.4 + 3 294 c.277G>A c.(277-279)Gtc>Atc p.V93I NECAB2_ENST00000565691.1_Silent_p.A18A NM_019065.2 NP_061938.2 Q7Z6G3 NECA2_HUMAN N-terminal EF-hand calcium binding protein 2 93 EF-hand 1. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding p.V93I(1) endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 TGCAGATGGCGTCCTTAATGA 0.512000 39 113 0 0 0.870114 0 0 CCDC15 80071 broad.mit.edu 37 11 124857317 124857317 + Nonsense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:124857317G>T ENST00000529051.1 + 8 1454 c.1195G>T c.(1195-1197)Gag>Tag p.E399* CCDC15_ENST00000344762.5_Nonsense_Mutation_p.E399* Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 399 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CCAGAGTATTGAGCTAGAAGA 0.453000 33 48 6.19805e-25 9.60619e-25 0.812448 1 0 UNC5A 90249 broad.mit.edu 37 5 176305065 176305065 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:176305065C>A ENST00000329542.4 + 11 2080 c.1806C>A c.(1804-1806)gcC>gcA p.A602A UNC5A_ENST00000261961.3_Silent_p.A562A NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 602 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGCCGGTGGCCTGCACCTCCC 0.667000 22 40 1.5548e-18 2.23272e-18 0.693898 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885873 88885873 + Silent SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:88885873G>C ENST00000319675.3 - 1 423 c.327C>G c.(325-327)acC>acG p.T109T NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 109 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GGAGCTCAGGGGTCGTCAGGC 0.542000 69 58 0 0 0.870114 0 0 CARD6 84674 broad.mit.edu 37 5 40843720 40843720 + Silent SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:40843720A>T ENST00000254691.5 + 2 949 c.750A>T c.(748-750)tcA>tcT p.S250S CARD6_ENST00000381677.3_Silent_p.S250S NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 250 Asp/Glu-rich. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TCGAGAATTCAGAAACCACAG 0.458000 9 90 0 0 0.361761 0 0 CTSH 1512 broad.mit.edu 37 15 79215420 79215420 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:79215420C>A ENST00000220166.5 - 11 956 c.847G>T c.(847-849)Gta>Tta p.V283L CTSH_ENST00000534533.1_5'UTR NM_004390.3 NP_004381.2 P09668 CATH_HUMAN cathepsin H 283 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1) 10 ACAGCCAGTACTGCATGGTTT 0.443000 15 24 4.75885e-15 6.39437e-15 0.520397 1 0 MEGF10 84466 broad.mit.edu 37 5 126753489 126753489 + Missense_Mutation SNP T T G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:126753489T>G ENST00000274473.6 + 11 1557 c.1290T>G c.(1288-1290)tgT>tgG p.C430W MEGF10_ENST00000503335.2_Missense_Mutation_p.C430W|MEGF10_ENST00000508365.1_Missense_Mutation_p.C430W|MEGF10_ENST00000418761.2_Missense_Mutation_p.C430W NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 430 EGF-like 7.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AGTGCACCTGTGCCCCAGGAT 0.507000 23 5 0 0 0.729181 0 0 IGSF11 152404 broad.mit.edu 37 3 118648995 118648995 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:118648995C>A ENST00000354673.2 - 4 557 c.177G>T c.(175-177)atG>atT p.M59I IGSF11_ENST00000489689.1_Missense_Mutation_p.M60I|IGSF11_ENST00000425327.2_Missense_Mutation_p.M59I|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000393775.2_Missense_Mutation_p.M60I|IGSF11_ENST00000491903.1_Missense_Mutation_p.M60I|IGSF11_ENST00000441144.2_Missense_Mutation_p.M59I NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 60 Ig-like V-type. cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GAGGAGTGACCATCCAAATGA 0.522000 34 68 1.36161e-19 1.97875e-19 0.796494 1 0 PSG4 5672 broad.mit.edu 37 19 43708110 43708110 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:43708110A>G ENST00000405312.3 - 2 595 c.358T>C c.(358-360)Tac>Cac p.Y120H PSG4_ENST00000433626.2_Missense_Mutation_p.Y120H|PSG4_ENST00000244295.9_Missense_Mutation_p.Y120H NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 120 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TGTAAGGTGTAGGATCCTGCA 0.473000 78 131 0 0 0.870114 0 0 MAP3K14 9020 broad.mit.edu 37 17 43341989 43341989 + RNA SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:43341989G>T ENST00000344686.2 - 0 2963 MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TGGAGCCGGCGGTGGAGGGCA 0.662000 6 6 0.0293803 0.0300751 0.248553 1 0 GCM1 8521 broad.mit.edu 37 6 52999124 52999124 + Splice_Site SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:52999124T>C ENST00000259803.7 - 3 287 c.e3-2 NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) TTTCACGTTCTGATAGAAACA 0.473000 23 39 0 0 0.654019 0 0 BMPR2 659 broad.mit.edu 37 2 203242242 203242242 + Silent SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:203242242A>G ENST00000374580.4 + 1 584 c.45A>G c.(43-45)ccA>ccG p.P15P BMPR2_ENST00000374574.2_Silent_p.P15P NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 15 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 CCTGGCTACCATGGACCATCC 0.662000 30 92 0 0 0.769981 0 0 CSMD3 114788 broad.mit.edu 37 8 113678542 113678542 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:113678542G>T ENST00000297405.5 - 17 3024 c.2780C>A c.(2779-2781)gCt>gAt p.A927D CSMD3_ENST00000455883.2_Missense_Mutation_p.A823D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A927D|CSMD3_ENST00000343508.3_Missense_Mutation_p.A887D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 927 CUB 5. 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 TCCAGGTTCAGCTTCAATCAC 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 46 22 1.27862e-28 2.07733e-28 0.870114 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21011448 21011448 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:21011448G>T ENST00000381545.3 + 5 521 c.302G>T c.(301-303)tGt>tTt p.C101F SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.C101F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.C101F|LST3_ENST00000381541.3_Missense_Mutation_p.C101F|LST3_ENST00000540229.1_Missense_Mutation_p.C101F|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.C101F NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 101 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GGAATTGGTTGTCTCCTTATG 0.333000 8 344 0.000274275 0.000289566 0.307466 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530628 80530628 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:80530628C>A ENST00000295057.3 - 2 973 c.317G>T c.(316-318)gGg>gTg p.G106V CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G106V|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 106 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AAAGGCGTCCCCCTGCACGGA 0.592000 HNSCC(69;0.2) 71 65 6.11987e-43 1.07497e-42 0.870114 1 0 LPPR4 9890 broad.mit.edu 37 1 99753707 99753707 + Splice_Site SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:99753707G>C ENST00000370185.3 + 2 905 c.e2+1 LPPR4_ENST00000457765.1_Splice_Site NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TGCAATTACGGTAAGAATTAC 0.408000 12 61 0 0 0.411799 0 0 GHR 2690 broad.mit.edu 37 5 42695191 42695191 + Splice_Site SNP G G T rs45501892 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:42695191G>T ENST00000230882.4 + 5 629 c.439_splice c.e5+1 p.V147_splice GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Splice_Site_p.V125_splice NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 147 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGATGAAATAGGTAAATCACA 0.353000 29 95 3.86903e-22 5.83242e-22 0.769981 1 0 MAMDC2 256691 broad.mit.edu 37 9 72833383 72833383 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:72833383T>A ENST00000377182.4 + 12 2399 c.1782T>A c.(1780-1782)acT>acA p.T594T SMC5-AS1_ENST00000594708.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 594 MAM 4. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 GAGGGGGCACTGGCCTGCTGA 0.498000 22 31 0 0 0.681144 0 0 DTX4 23220 broad.mit.edu 37 11 58972340 58972340 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:58972340C>A ENST00000227451.3 + 9 1922 c.1818C>A c.(1816-1818)gcC>gcA p.A606A DTX4_ENST00000532982.1_Silent_p.A500A NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 606 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) AACTGGCTGCCCAGGGCATCT 0.557000 7 6 0.0477658 0.0485672 0.307466 1 0 HGSNAT 138050 broad.mit.edu 37 8 43028855 43028855 + Splice_Site SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:43028855G>A ENST00000458501.2 + 9 904 c.e9-1 HGSNAT_ENST00000379644.4_Splice_Site Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TTGTTCTGCAGGGCTGACAGT 0.468000 19 16 0 0 0.667858 0 0 OR56A4 120793 broad.mit.edu 37 11 6023421 6023421 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:6023421T>A ENST00000330728.4 - 1 1003 c.958A>T c.(958-960)Agg>Tgg p.R320W NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCTCTTCCTGGCCAGGTTA 0.542000 21 47 0 0 0.706142 0 0 ZNF229 7772 broad.mit.edu 37 19 44933222 44933222 + Silent SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:44933222C>G ENST00000291187.4 - 6 2038 c.1716G>C c.(1714-1716)ggG>ggC p.G572G ZNF229_ENST00000588931.1_Silent_p.G578G|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GGAAGCCCTTCCCACACTCAC 0.567000 22 31 0 0 0.717897 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414889 14414889 + RNA SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr21:14414889G>C ENST00000507941.1 + 0 95 TAGATAGAAAGTGCCAGCTTG 0.448000 7 58 0 0 0.278610 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763898 110763898 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:110763898G>T ENST00000368919.3 - 4 798 c.732C>A c.(730-732)gtC>gtA p.V244V SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Silent_p.V244V|SLC22A16_ENST00000330550.4_Silent_p.V210V NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 244 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) AATGCAAATGGACAGACGCCC 0.473000 32 7 1.99505e-19 2.87858e-19 0.760397 1 0 CALHM1 255022 broad.mit.edu 37 10 105218327 105218327 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:105218327G>T ENST00000329905.5 - 1 318 c.182C>A c.(181-183)cCc>cAc p.P61H RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 61 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 GAGCACCAGGGGTGGCGCCAG 0.662000 19 33 9.39395e-14 1.22688e-13 0.706142 1 0 ZNF519 162655 broad.mit.edu 37 18 14106161 14106161 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:14106161C>T ENST00000590202.1 - 3 530 c.378G>A c.(376-378)aaG>aaA p.K126K ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 ACTGAGGCTTCTTCTGAAATA 0.299000 6 50 0 0 0.335167 0 0 LAMC1 3915 broad.mit.edu 37 1 183093764 183093764 + Splice_Site SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:183093764A>T ENST00000258341.4 + 14 2658 c.e14-1 NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCATCCCCAGGTAAGAGAT 0.473000 31 118 0 0 0.864702 0 0 PCDH20 64881 broad.mit.edu 37 13 61987355 61987355 + Nonsense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:61987355C>A ENST00000409186.1 - 5 2982 c.877G>T c.(877-879)Gag>Tag p.E293* PCDH20_ENST00000409204.4_Nonsense_Mutation_p.E293* Q8N6Y1 PCD20_HUMAN protocadherin 20 266 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CCACCATCCTCAGCTATGATG 0.507000 13 21 7.93312e-07 8.88627e-07 0.457914 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768999 31768999 + Nonsense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:31768999G>T ENST00000240587.4 - 2 2027 c.1700C>A c.(1699-1701)tCg>tAg p.S567* NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 567 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GCTCTTCCCCGACGAGCCCAG 0.587000 37 89 1.52319e-26 2.38514e-26 0.840704 1 0 PRSS55 203074 broad.mit.edu 37 8 10388829 10388829 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:10388829G>T ENST00000328655.3 + 3 412 c.372G>T c.(370-372)ctG>ctT p.L124L PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.L124L NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 124 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 GTGTCGTGCTGGGGACCAACG 0.507000 44 135 2.43139e-17 3.39499e-17 0.870114 1 0 ADIPOR1 51094 broad.mit.edu 37 1 202911196 202911196 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:202911196G>A ENST00000340990.5 - 7 1254 c.956C>T c.(955-957)gCt>gTt p.A319V ADIPOR1_ENST00000436244.1_Missense_Mutation_p.A319V NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 319 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) AGGAATTCGAGCAGCATAAAG 0.493000 50 61 0 0 0.870114 0 0 HTR3E 285242 broad.mit.edu 37 3 183824006 183824006 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:183824006A>T ENST00000415389.2 + 8 1482 c.1016A>T c.(1015-1017)cAg>cTg p.Q339L HTR3E_ENST00000425359.2_Missense_Mutation_p.Q324L|HTR3E_ENST00000335304.2_Missense_Mutation_p.Q354L|HTR3E_ENST00000436361.2_Missense_Mutation_p.Q339L|HTR3E_ENST00000440596.2_Missense_Mutation_p.Q365L NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 339 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCCACCACCCAGCCCCCACCC 0.652000 50 81 0 0 0.870114 0 0 CYFIP1 23191 broad.mit.edu 37 15 22939184 22939184 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:22939184G>T ENST00000313077.7 + 10 1035 c.910G>T c.(910-912)Gtg>Ttg p.V304L CYFIP1_ENST00000560848.1_Missense_Mutation_p.V304L NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 304 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GCAACTCCAGGTGGTTCCGCT 0.388000 53 95 1.10103e-14 1.46966e-14 0.870114 1 0 OR6X1 390260 broad.mit.edu 37 11 123624358 123624358 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:123624358A>G ENST00000327930.2 - 1 895 c.869T>C c.(868-870)aTt>aCt p.I290T NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 290 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) CTTGTTTCTAATAGTATAAAT 0.413000 10 67 0 0 0.411799 0 0 WNK3 65267 broad.mit.edu 37 X 54275344 54275344 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:54275344G>A ENST00000354646.2 - 17 3875 c.3437C>T c.(3436-3438)tCt>tTt p.S1146F WNK3_ENST00000375159.2_Missense_Mutation_p.S1146F|WNK3_ENST00000375169.3_Missense_Mutation_p.S1146F NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1146 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 AGCAGAGGAAGAAAATGGAGA 0.438000 109 8 0 0 0.870114 0 0 ZNF83 55769 broad.mit.edu 37 19 53116752 53116752 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:53116752G>T ENST00000597597.1 - 2 3319 c.1066C>A c.(1066-1068)Cgc>Agc p.R356S ZNF83_ENST00000536937.1_Missense_Mutation_p.R356S|ZNF83_ENST00000541777.2_Missense_Mutation_p.R356S|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Missense_Mutation_p.R328S|ZNF83_ENST00000301096.3_Missense_Mutation_p.R356S|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.R356S|ZNF83_ENST00000545872.1_Missense_Mutation_p.R356S P51522 ZNF83_HUMAN zinc finger protein 83 356 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TATGAATTGCGACTGAAGACC 0.408000 48 65 9.57592e-29 1.55995e-28 0.870114 1 0 RC3H1 149041 broad.mit.edu 37 1 173931080 173931080 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:173931080T>A ENST00000367696.2 - 12 2336 c.1985A>T c.(1984-1986)tAc>tTc p.Y662F RC3H1_ENST00000367694.2_Missense_Mutation_p.Y662F|RC3H1_ENST00000258349.4_Missense_Mutation_p.Y662F Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 662 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TATAGGTGGGTACTGCTGTGG 0.498000 72 108 0 0 0.870114 0 0 POLD2 5425 broad.mit.edu 37 7 44156479 44156479 + Silent SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:44156479G>C ENST00000406581.2 - 7 1366 c.717C>G c.(715-717)tcC>tcG p.S239S POLD2_ENST00000223361.3_Silent_p.S239S|POLD2_ENST00000452185.1_Silent_p.S239S NM_001256879.1 NP_001243808.1 P49005 DPOD2_HUMAN polymerase (DNA directed), delta 2, accessory subunit 239 base-excision repair|DNA strand elongation involved in DNA replication|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 DNA binding|DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 GGATAACCCGGGAGACGTGGG 0.652000 16 45 0 0 0.557998 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146213 156146213 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:156146213G>C ENST00000368285.3 + 15 1978 c.1711G>C c.(1711-1713)Gtc>Ctc p.V571L SEMA4A_ENST00000368284.1_Missense_Mutation_p.V439L|SEMA4A_ENST00000355014.2_Missense_Mutation_p.V571L|SEMA4A_ENST00000368282.1_Missense_Mutation_p.V571L|SEMA4A_ENST00000368286.2_Missense_Mutation_p.V439L NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 571 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) AGTCCTGGCTGTCCCCAACTC 0.527000 22 43 0 0 0.681144 0 0 OPN5 221391 broad.mit.edu 37 6 47763178 47763178 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:47763178C>A ENST00000489301.2 + 4 720 c.635C>A c.(634-636)aCg>aAg p.T212K OPN5_ENST00000371211.2_Missense_Mutation_p.T212K|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.T212K Q6U736 OPN5_HUMAN opsin 5 212 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 TTGCTCCCAACGGCTGTGATC 0.537000 32 93 2.20474e-14 2.93642e-14 0.788014 1 0 PENK 5179 broad.mit.edu 37 8 57358302 57358302 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:57358302G>A ENST00000518770.1 - 3 364 c.211C>T c.(211-213)Cgg>Tgg p.R71W PENK_ENST00000451791.2_Intron|PENK_ENST00000314922.3_Intron|PENK_ENST00000523051.1_Intron P01210 PENK_HUMAN proenkephalin 130 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) GCGGTGGGCCGGAGGCAGTCC 0.672000 18 84 0 0 0.539581 0 0 ALPK1 80216 broad.mit.edu 37 4 113333137 113333137 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:113333137C>G ENST00000458497.1 + 5 710 c.431C>G c.(430-432)gCc>gGc p.A144G ALPK1_ENST00000177648.9_Missense_Mutation_p.A144G|ALPK1_ENST00000504176.2_Missense_Mutation_p.A66G|ALPK1_ENST00000505912.1_3'UTR NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 144 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ACGCCAATTGCCCCGCAGGTG 0.602000 27 62 0 0 0.796494 0 0 KDM4D 55693 broad.mit.edu 37 11 94731474 94731474 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:94731474G>T ENST00000335080.5 + 3 1770 c.938G>T c.(937-939)gGg>gTg p.G313V KDM4D_ENST00000536741.1_Missense_Mutation_p.G313V NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 313 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TGTAGCTGTGGGGAGGCAAGG 0.547000 18 28 8.00594e-06 8.78913e-06 0.557998 1 0 PCDHB17P 54661 broad.mit.edu 37 5 140536977 140536977 + Silent SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:140536977C>G ENST00000539533.1 + 1 1401 c.1401C>G c.(1399-1401)ccC>ccG p.P467P ACAACAGCCCCGCCCTGCACA 0.637000 60 138 0 0 0.870114 0 0 SLC10A2 6555 broad.mit.edu 37 13 103703661 103703661 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:103703661G>T ENST00000245312.3 - 4 1303 c.707C>A c.(706-708)gCg>gAg p.A236E NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 236 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGAGTAACCCGCCACAGGAAA 0.433000 96 30 4.46965e-45 7.94312e-45 0.870114 1 0 C1orf85 112770 broad.mit.edu 37 1 156264222 156264222 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:156264222G>A ENST00000362007.1 - 3 539 c.513C>T c.(511-513)gcC>gcT p.A171A C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Silent_p.A85A NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 171 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) CTTGAAATGTGGCACTCAGGG 0.517000 21 105 0 0 0.654019 0 0 LRFN2 57497 broad.mit.edu 37 6 40399890 40399890 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:40399890G>T ENST00000338305.6 - 2 1505 c.963C>A c.(961-963)caC>caA p.H321Q NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 321 Ig-like. 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) GGGCTACCCAGTGGATAAGGG 0.592000 15 42 8.00594e-06 8.78913e-06 0.557998 1 0 MUC16 94025 broad.mit.edu 37 19 9075689 9075689 + Silent SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:9075689A>C ENST00000397910.4 - 3 11960 c.11757T>G c.(11755-11757)acT>acG p.T3919T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3920 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 TTGGGGATGAAGTCGTCCCAG 0.463000 9 7 0 0 0.361761 0 0 DNHD1 144132 broad.mit.edu 37 11 6588453 6588453 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:6588453G>T ENST00000254579.6 + 36 12278 c.11714G>T c.(11713-11715)aGc>aTc p.S3905I DNHD1_ENST00000527990.2_Missense_Mutation_p.S3905I NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 3905 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GACCTGGCCAGCCATCTACTG 0.582000 38 120 2.35958e-20 3.46225e-20 0.847076 1 0 SPTBN1 6711 broad.mit.edu 37 2 54858111 54858111 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:54858111A>G ENST00000333896.5 + 15 3273 c.2888A>G c.(2887-2889)aAg>aGg p.K963R SPTBN1_ENST00000356805.4_Missense_Mutation_p.K976R NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 976 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GAAAAGACCAAGGTCATCGAG 0.582000 30 21 0 0 0.769981 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390472 208390472 + Missense_Mutation SNP C C A rs138081202 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:208390472C>A ENST00000367033.3 - 2 1553 c.796G>T c.(796-798)Gtg>Ttg p.V266L NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 266 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TTGATGGCCACACCCTCAGGG 0.577000 32 160 5.71845e-15 7.66677e-15 0.812448 1 0 MIDN 90007 broad.mit.edu 37 19 1255633 1255633 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:1255633G>T ENST00000300952.2 + 7 1584 c.1069G>T c.(1069-1071)Gct>Tct p.A357S MIDN_ENST00000591446.2_Missense_Mutation_p.A357S NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 357 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) GAAGCTCACGGCTGCCCCCTC 0.736000 10 18 0.000219431 0.000232069 0.457914 1 0 TCF21 6943 broad.mit.edu 37 6 134210643 134210643 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:134210643G>T ENST00000367882.4 + 1 368 c.108G>T c.(106-108)gaG>gaT p.E36D RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E36D NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 36 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) CTTCCAACGAGAGCACCGAGG 0.587000 32 33 1.06801e-11 1.33999e-11 0.740014 1 0 LILRA3 11026 broad.mit.edu 37 19 54803067 54803067 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:54803067C>A ENST00000391745.1 - 8 977 c.661G>T c.(661-663)Gct>Tct p.A221S LILRA3_ENST00000251390.3_Missense_Mutation_p.A204S|LILRA3_ENST00000391744.3_Intron leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACATAGGGAGCGCGCGAGTCA 0.607000 36 44 3.05275e-18 4.36312e-18 0.864702 1 0 CETP 1071 broad.mit.edu 37 16 57003901 57003901 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:57003901A>G ENST00000200676.3 + 5 645 c.515A>G c.(514-516)cAa>cGa p.Q172R CETP_ENST00000379780.2_Missense_Mutation_p.Q172R|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000566128.1_Missense_Mutation_p.Q107R NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 172 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 CTGCATCTCCAAGGGGAGCGA 0.597000 18 29 0 0 0.592651 0 0 PRTG 283659 broad.mit.edu 37 15 55970154 55970154 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:55970154C>T ENST00000389286.4 - 8 1269 c.1222G>A c.(1222-1224)Gcc>Acc p.A408T NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 408 Ig-like 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GTCAGTCTGGCTCTAGATAAA 0.413000 23 26 0 0 0.681144 0 0 MUC17 140453 broad.mit.edu 37 7 100677758 100677758 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:100677758A>G ENST00000306151.4 + 3 3125 c.3061A>G c.(3061-3063)Agt>Ggt p.S1021G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1021 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACTGAAGCCAGTTCACCTCC 0.522000 154 872 0 0 0.870114 0 0 ANKS1B 56899 broad.mit.edu 37 12 100048923 100048923 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:100048923C>A ENST00000547776.2 - 9 1193 c.1194G>T c.(1192-1194)acG>acT p.T398T ANKS1B_ENST00000329257.7_Silent_p.T398T|ANKS1B_ENST00000547010.1_5'UTR NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 398 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ATGGCCCACACGTATTTTCAT 0.383000 7 27 1.58986e-06 1.7776e-06 0.361761 1 0 LILRA2 11027 broad.mit.edu 37 19 55086784 55086784 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:55086784C>G ENST00000251377.3 + 6 850 c.717C>G c.(715-717)agC>agG p.S239R LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R|LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CCGGGGAGAGCCTGACCCTCC 0.577000 34 48 0 0 0.796494 0 0 DPP6 1804 broad.mit.edu 37 7 154263993 154263993 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:154263993G>T ENST00000404039.1 + 5 1014 c.427G>T c.(427-429)Gtg>Ttg p.V143L DPP6_ENST00000427557.1_Missense_Mutation_p.V145L|DPP6_ENST00000406326.1_Missense_Mutation_p.V207L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Missense_Mutation_p.V207L|DPP6_ENST00000332007.3_Missense_Mutation_p.V145L NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 207 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TTCATACAATGTGGAACCCGT 0.294000 3 31 0.150653 0.152925 0.150653 1 0 POU4F2 5458 broad.mit.edu 37 4 147561660 147561660 + Silent SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:147561660T>C ENST00000281321.3 + 2 1178 c.930T>C c.(928-930)aaT>aaC p.N310N NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 310 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) TGTCCCACAATAATATGATCG 0.607000 39 59 0 0 0.870114 0 0 LAMA2 3908 broad.mit.edu 37 6 129618872 129618872 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:129618872T>A ENST00000421865.2 + 21 2948 c.2899T>A c.(2899-2901)Tgc>Agc p.C967S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 967 Laminin EGF-like 10. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTGTGTTCCCTGCAACTGCAA 0.468000 28 8 0 0 0.769981 0 0 DCDC1 341019 broad.mit.edu 37 11 31086605 31086605 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:31086605G>T ENST00000597505.1 - 17 2393 c.2394C>A c.(2392-2394)acC>acA p.T798T DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GATGAGCTGTGGTCCAGGCAC 0.443000 22 39 3.01185e-09 3.53717e-09 0.667858 1 0 CRX 1406 broad.mit.edu 37 19 48342786 48342786 + Silent SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:48342786C>G ENST00000221996.7 + 4 668 c.462C>G c.(460-462)acC>acG p.T154T CRX_ENST00000539067.1_Silent_p.T154T|TPRX2P_ENST00000535362.1_Intron NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 154 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) GCTCCCCAACCACGGCAGTGG 0.667000 34 55 0 0 0.853193 0 0 DIS3 22894 broad.mit.edu 37 13 73348154 73348154 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:73348154C>A ENST00000377767.4 - 7 1131 c.1031G>T c.(1030-1032)aGa>aTa p.R344I DIS3_ENST00000377780.4_Missense_Mutation_p.R314I|DIS3_ENST00000545453.1_Missense_Mutation_p.R182I NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 344 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding p.R344T(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCCTACAACTCTACCTGTAGG 0.333000 Multiple Myeloma(4;0.011) 15 34 3.62473e-10 4.38441e-10 0.608945 1 0 PSD3 23362 broad.mit.edu 37 8 18729545 18729545 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:18729545C>A ENST00000440756.2 - 3 931 c.829G>T c.(829-831)Ggg>Tgg p.G277W PSD3_ENST00000523619.1_Missense_Mutation_p.G212W|PSD3_ENST00000327040.8_Missense_Mutation_p.G277W Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 277 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TGCTCTCTCCCAAGAGCAGAC 0.572000 17 43 6.49762e-13 8.39564e-13 0.539581 1 0 NLRP6 171389 broad.mit.edu 37 11 281566 281566 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:281566A>G ENST00000534750.1 + 4 2037 c.1832A>G c.(1831-1833)gAg>gGg p.E611G NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGGAGGAGGAGGGAGAGGAG 0.662000 7 147 0 0 0.411799 0 0 CDH18 1016 broad.mit.edu 37 5 19838969 19838969 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:19838969C>A ENST00000507958.1 - 5 1117 c.127G>T c.(127-129)Ggt>Tgt p.G43C CDH18_ENST00000382275.1_Missense_Mutation_p.G43C|CDH18_ENST00000506372.1_Missense_Mutation_p.G43C|CDH18_ENST00000502796.1_Missense_Mutation_p.G43C|CDH18_ENST00000274170.4_Missense_Mutation_p.G43C|CDH18_ENST00000511273.1_Missense_Mutation_p.G43C Q13634 CAD18_HUMAN cadherin 18, type 2 43 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCGGTTTCACCTTCAATGTGT 0.448000 20 150 1.96895e-08 2.27707e-08 0.639603 1 0 PSD4 23550 broad.mit.edu 37 2 113940672 113940672 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:113940672A>C ENST00000245796.6 + 2 834 c.639A>C c.(637-639)gaA>gaC p.E213D PSD4_ENST00000441564.2_Missense_Mutation_p.E213D NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 213 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACTCAGGGGAAGACAGCAGTG 0.627000 10 27 0 0 0.411799 0 0 ADAM23 8745 broad.mit.edu 37 2 207310211 207310211 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:207310211T>C ENST00000264377.3 + 2 723 c.395T>C c.(394-396)cTt>cCt p.L132P ADAM23_ENST00000374415.3_Missense_Mutation_p.L132P|ADAM23_ENST00000374416.1_Missense_Mutation_p.L132P NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 132 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TATCACGTTCTTGACACAAAG 0.383000 49 120 0 0 0.870114 0 0 TTLL7 79739 broad.mit.edu 37 1 84417870 84417870 + Splice_Site SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:84417870C>A ENST00000260505.8 - 2 402 c.25_splice c.e2+1 p.V9_splice TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 9 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) ATTTCCCTACCTCCTTCTTGA 0.353000 51 47 2.34191e-24 3.6204e-24 0.870114 1 0 GABRA6 2559 broad.mit.edu 37 5 161128659 161128659 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:161128659C>A ENST00000523217.1 + 9 1454 c.1212C>A c.(1210-1212)acC>acA p.T404T GABRA6_ENST00000274545.5_Silent_p.T414T NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 414 P -> S (in dbSNP:rs34907804). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTGGAGGCACCAGTAAAATAG 0.463000 TCGA Ovarian(5;0.080) 19 37 1.96895e-08 2.27707e-08 0.639603 1 0 SRPX 8406 broad.mit.edu 37 X 38080662 38080662 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:38080662C>T ENST00000343800.6 - 1 34 c.35G>A c.(34-36)aGt>aAt p.S12N TM4SF2_ENST00000465127.1_Intron|RP13-43E11.1_ENST00000423919.1_RNA P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 0 cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 gggactggaacttaggtgtgt 0.463000 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 6 0 0 0.387290 0 0 PDHA2 5161 broad.mit.edu 37 4 96762441 96762441 + Silent SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:96762441A>T ENST00000295266.4 + 1 1203 c.1140A>T c.(1138-1140)ccA>ccT p.P380P NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 380 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GTGCAAATCCATGGATCAAGT 0.418000 23 52 0 0 0.740014 0 0 OR8B3 390271 broad.mit.edu 37 11 124267042 124267042 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:124267042A>T ENST00000354597.3 - 1 222 c.206T>A c.(205-207)aTt>aAt p.I69N NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ACAGAGATCAATGAAGGAGAG 0.388000 7 58 0 0 0.248553 0 0 FAM179A 165186 broad.mit.edu 37 2 29247039 29247039 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:29247039C>A ENST00000379558.4 + 13 2003 c.1652C>A c.(1651-1653)gCc>gAc p.A551D FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A496D NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 551 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 TCTCACCTGGCCATCAGCACC 0.612000 10 7 1.36491e-13 1.77497e-13 0.435327 1 0 C2orf71 388939 broad.mit.edu 37 2 29296486 29296486 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:29296486C>A ENST00000331664.5 - 1 641 c.642G>T c.(640-642)ctG>ctT p.L214L NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 214 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 TGGGCTGCAGCAGCTCCCGGG 0.547000 26 196 2.68265e-12 3.42972e-12 0.769981 1 0 PSMA7 5688 broad.mit.edu 37 20 60714829 60714829 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:60714829G>A ENST00000370858.3 - 3 482 c.356C>T c.(355-357)gCc>gTc p.A119V PSMA7_ENST00000370873.4_Intron|PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Intron O14818 PSA7_HUMAN proteasome (prosome, macropain) subunit, alpha type, 7 124 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity large_intestine(1)|lung(2) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) AAGCGGGCAGGCACCCACCTG 0.607000 12 51 0 0 0.411799 0 0 HSD3B2 3284 broad.mit.edu 37 1 119958096 119958096 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:119958096C>A ENST00000543831.1 + 2 303 c.54C>A c.(52-54)atC>atA p.I18I HSD3B2_ENST00000369416.3_Silent_p.I18I|HSD3B2_ENST00000471656.1_3'UTR NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 18 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GTCAGAGGATCGTCCGCCTGT 0.512000 39 40 4.14481e-20 6.06704e-20 0.819951 1 0 NAV2 89797 broad.mit.edu 37 11 20136343 20136343 + Splice_Site SNP T T G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:20136343T>G ENST00000396085.1 + 38 7534 c.e38+2 NAV2_ENST00000540292.1_Splice_Site|NAV2_ENST00000533917.1_Splice_Site|NAV2_ENST00000527559.2_Splice_Site|NAV2_ENST00000396087.3_Splice_Site|NAV2_ENST00000311043.8_Splice_Site|NAV2_ENST00000360655.4_Splice_Site|NAV2_ENST00000349880.4_Splice_Site NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GACCCGCTGGTGAGTCCTCAG 0.552000 9 24 0 0 0.411799 0 0 ZC3H4 23211 broad.mit.edu 37 19 47589764 47589764 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:47589764G>T ENST00000253048.5 - 6 784 c.747C>A c.(745-747)ggC>ggA p.G249G ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 249 Gly-rich. nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GGCTTCCTCGGCCCCTGTAGC 0.662000 11 25 1.36491e-13 1.77497e-13 0.435327 1 0 SLC25A40 55972 broad.mit.edu 37 7 87473179 87473179 + Splice_Site SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:87473179C>A ENST00000341119.5 - 9 978 c.e9-1 NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) CAGTACATTGCTATAAAAACA 0.289000 5 27 0.184627 0.186163 0.184627 1 0 IGHV3-53 28420 broad.mit.edu 37 14 107048679 107048679 + RNA SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:107048679C>A ENST00000390627.2 - 0 561 GTCTCTCGCACAGTAATACAC 0.572000 37 90 1.10255e-20 1.62566e-20 0.870114 1 0 PHEX 5251 broad.mit.edu 37 X 22108604 22108604 + Nonsense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:22108604G>T ENST00000379374.4 + 6 1286 c.721G>T c.(721-723)Gaa>Taa p.E241* PHEX_ENST00000537599.1_Nonsense_Mutation_p.E241*|PHEX_ENST00000535894.1_Nonsense_Mutation_p.E144* NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 241 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 TAACAGTACAGAAGCCAAGTC 0.438000 19 5 2.39556e-15 3.23321e-15 0.639603 1 0 CUL2 8453 broad.mit.edu 37 10 35300818 35300818 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:35300818C>A ENST00000374748.1 - 21 2377 c.2064G>T c.(2062-2064)atG>atT p.M688I CUL2_ENST00000374742.1_Intron|CUL2_ENST00000374746.1_Intron|CUL2_ENST00000374751.3_Missense_Mutation_p.M688I|CUL2_ENST00000374749.3_Missense_Mutation_p.M688I|CUL2_ENST00000537177.1_Missense_Mutation_p.M707I|CUL2_ENST00000602371.1_Missense_Mutation_p.M631I Q13617 CUL2_HUMAN cullin 2 688 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 TTCGTGCTTTCATGATACGAA 0.438000 4 19 0.00909568 0.00937412 0.150653 1 0 TRIM48 79097 broad.mit.edu 37 11 55032777 55032777 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:55032777C>A ENST00000417545.2 + 2 532 c.446C>A c.(445-447)gCt>gAt p.A149D NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 133 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GAGTGGGCTGCTGAGGAACAC 0.493000 41 47 3.73646e-36 6.41443e-36 0.870114 1 0 IGKV3D-20 28874 broad.mit.edu 37 2 90078019 90078019 + RNA SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:90078019C>A ENST00000390270.2 + 0 153 TCAGATACCACCGGAGAAATT 0.473000 60 48 1.55545e-33 2.61833e-33 0.870114 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84607144 84607144 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:84607144C>A ENST00000344803.2 + 4 1806 c.1759C>A c.(1759-1761)Cca>Aca p.P587T NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ACCTCAATCTCCATTCCGAGC 0.527000 19 52 0.00229938 0.002386 0.624587 1 0 RMI1 80010 broad.mit.edu 37 9 86616177 86616177 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:86616177G>A ENST00000325875.3 + 3 608 c.276G>A c.(274-276)ttG>ttA p.L92L NM_024945.2 NP_079221.2 Q9H9A7 RMI1_HUMAN RecQ mediated genome instability 1 92 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 TTAATTCCTTGGTTGATGTAA 0.393000 29 42 0 0 0.760397 0 0 FAM209B 388799 broad.mit.edu 37 20 55108546 55108546 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:55108546A>T ENST00000371325.1 + 1 245 c.149A>T c.(148-150)gAg>gTg p.E50V NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 50 integral to membrane AACCTACCAGAGCACACCCAA 0.502000 51 82 0 0 0.870114 0 0 NKX6-2 84504 broad.mit.edu 37 10 134598456 134598456 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:134598456G>T ENST00000368592.5 - 3 901 c.798C>A c.(796-798)gtC>gtA p.V266V NM_177400.2 NP_796374.1 Q9C056 NKX62_HUMAN NK6 homeobox 2 266 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|lung(2) 3 all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05) CGCACGGGCTGACCAGCGCCA 0.677000 10 16 0.0167234 0.0171769 0.435327 1 0 FPGT 8790 broad.mit.edu 37 1 74670341 74670341 + Nonsense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:74670341G>T ENST00000370898.2 + 4 647 c.610G>T c.(610-612)Gga>Tga p.G204* FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370894.4_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 TACCACACATGGAGTATTTGT 0.363000 40 23 5.13769e-22 7.72565e-22 0.870114 1 0 PHKG1 5260 broad.mit.edu 37 7 56156616 56156616 + Translation_Start_Site SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:56156616G>T ENST00000537360.1 - 0 168 PHKG1_ENST00000452681.2_Missense_Mutation_p.L7M|PHKG1_ENST00000297373.2_Missense_Mutation_p.L7M|PHKG1_ENST00000489604.1_5'UTR Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAGTCCGGCAGTGCCTCGTCC 0.547000 16 17 1.28384e-07 1.47071e-07 0.608945 1 0 ZNF883 169834 broad.mit.edu 37 9 115760149 115760149 + RNA SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:115760149C>T ENST00000427548.1 - 0 1664 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding AAAGCTTTCCCACATTCATTA 0.378000 11 12 0 0 0.500413 0 0 USH2A 7399 broad.mit.edu 37 1 216380628 216380628 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:216380628A>C ENST00000366943.2 - 16 3689 c.3303T>G c.(3301-3303)gaT>gaG p.D1101E USH2A_ENST00000366942.3_Missense_Mutation_p.D1101E|USH2A_ENST00000307340.3_Missense_Mutation_p.D1101E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1101 Fibronectin type-III 1. 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) ATGGGTATTGATCCTCTGTTG 0.378000 HNSCC(13;0.011) 18 87 0 0 0.539581 0 0 TG 7038 broad.mit.edu 37 8 133913625 133913625 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:133913625G>A ENST00000220616.4 + 16 3501 c.3461G>A c.(3460-3462)aGt>aAt p.S1154N TG_ENST00000377869.1_Missense_Mutation_p.S1154N NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1154 Thyroglobulin type-1 10. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTGCTCAAGAGTGGAGTCCTC 0.612000 45 212 0 0 0.870114 0 0 OR2L2 26246 broad.mit.edu 37 1 248202414 248202414 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:248202414C>A ENST00000366479.2 + 1 941 c.845C>A c.(844-846)cCa>cAa p.P282Q OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATCCTCACCCCAATGCTCAAC 0.463000 26 137 6.00712e-18 8.48559e-18 0.760397 1 0 CRISPLD2 83716 broad.mit.edu 37 16 84884260 84884260 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:84884260G>T ENST00000262424.5 + 5 803 c.579G>T c.(577-579)gcG>gcT p.A193A CRISPLD2_ENST00000567845.1_Silent_p.A193A|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Silent_p.A193A NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 193 extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 GGGAGAACGCGGTCTACTTTG 0.502000 32 100 1.04352e-10 1.2827e-10 0.788014 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146829410 146829410 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:146829410T>A ENST00000361727.3 + 8 1673 c.1157T>A c.(1156-1158)gTg>gAg p.V386E NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 386 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) TACCTGGAGGTGCCCGGACGG 0.473000 HNSCC(39;0.1) 20 68 0 0 0.639603 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39428305 39428305 + Missense_Mutation SNP G G T rs149444818 by1000genomes TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr22:39428305G>T ENST00000216099.7 + 7 1552 c.1145G>T c.(1144-1146)cGg>cTg p.R382L APOBEC3D_ENST00000427494.2_Missense_Mutation_p.R198L|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.R382L NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 382 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) AGAAGGCTACGGGAGATTCTC 0.512000 50 66 1.08141e-31 1.80036e-31 0.870114 1 0 EMILIN2 84034 broad.mit.edu 37 18 2890834 2890834 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:2890834A>T ENST00000254528.3 + 4 868 c.709A>T c.(709-711)Acc>Tcc p.T237S NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 237 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CAAGCCTGACACCACTGTTAG 0.517000 51 52 0 0 0.870114 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768654 31768654 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:31768654C>A ENST00000240587.4 - 2 2372 c.2045G>T c.(2044-2046)aGc>aTc p.S682I NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 682 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGCGAGGGGGCTCCCATCCTT 0.652000 12 94 1.5842e-08 1.83913e-08 0.435327 1 0 VIP 7432 broad.mit.edu 37 6 153078256 153078256 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:153078256C>A ENST00000367244.3 + 6 665 c.493C>A c.(493-495)Cca>Aca p.P165T VIP_ENST00000367243.3_Missense_Mutation_p.P164T NM_003381.3 NP_003372.1 P01282 VIP_HUMAN vasoactive intestinal peptide 165 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1) 6 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) TCCCGACTTTCCAGAAGAGTT 0.398000 21 9 2.24059e-21 3.34434e-21 0.706142 1 0 NBEAL2 23218 broad.mit.edu 37 3 47037928 47037928 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:47037928G>T ENST00000450053.3 + 16 2498 c.2319G>T c.(2317-2319)gtG>gtT p.V773V NBEAL2_ENST00000292309.5_Silent_p.V773V|NBEAL2_ENST00000383740.2_5'UTR NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 773 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CCGGGCTGGTGGCCCCCCTGC 0.716000 20 0 3.99206e-14 5.2591e-14 0.557998 1 0 RASGRP3 25780 broad.mit.edu 37 2 33749040 33749040 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:33749040G>T ENST00000403687.3 + 8 1351 c.611G>T c.(610-612)tGg>tTg p.W204L RASGRP3_ENST00000407811.1_Missense_Mutation_p.W204L|RASGRP3_ENST00000402538.3_Missense_Mutation_p.W204L NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 204 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity p.W204L(1) large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) ATCTCTAAGTGGGTCCAGTTG 0.423000 55 237 6.3091e-27 9.93069e-27 0.870114 1 0 CEP250 11190 broad.mit.edu 37 20 34091823 34091823 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:34091823G>T ENST00000397527.1 + 30 6346 c.5626G>T c.(5626-5628)Gca>Tca p.A1876S CEP250_ENST00000342580.4_Missense_Mutation_p.A1820S NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1876 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGAAGAGCTGGCAGTGGAGGG 0.617000 21 2 6.44725e-10 7.75205e-10 0.624587 1 0 SLC17A2 10246 broad.mit.edu 37 6 25917231 25917231 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:25917231T>A ENST00000377850.3 - 7 1258 c.734A>T c.(733-735)gAa>gTa p.E245V SLC17A2_ENST00000265425.3_Missense_Mutation_p.E245V|SLC17A2_ENST00000360488.3_Missense_Mutation_p.E245V O00624 NPT3_HUMAN solute carrier family 17, member 2 245 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GTGCTCCTTTTCCCTAACACT 0.527000 21 67 0 0 0.592651 0 0 SGPP2 130367 broad.mit.edu 37 2 223423135 223423135 + Missense_Mutation SNP G G C rs141548793 by1000genomes TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:223423135G>C ENST00000321276.7 + 5 804 c.718G>C c.(718-720)Gac>Cac p.D240H NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 240 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) GACCTTCATCGACTGCCTGGA 0.537000 4 222 0 0 0.150653 0 0 CASS4 57091 broad.mit.edu 37 20 55027604 55027604 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:55027604C>A ENST00000371336.3 + 5 1573 c.1372C>A c.(1372-1374)Ctg>Atg p.L458M CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.L458M NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 458 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 TGTCGCTGGCCTGATGCTCTT 0.527000 11 44 0.0135373 0.013928 0.411799 1 0 FAM135B 51059 broad.mit.edu 37 8 139163985 139163985 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:139163985C>A ENST00000395297.1 - 13 2903 c.2733G>T c.(2731-2733)ttG>ttT p.L911F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 911 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GACCCACATTCAAGTCTTTAG 0.473000 HNSCC(54;0.14) 22 148 3.00307e-07 3.39526e-07 0.729181 1 0 ITK 3702 broad.mit.edu 37 5 156670710 156670710 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:156670710G>T ENST00000422843.3 + 12 1290 c.1138G>T c.(1138-1140)Ggc>Tgc p.G380C ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 380 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGTGCATCTGGGCTACTGGCT 0.498000 T SYK peripheral T-cell lymphoma 45 70 1.86277e-20 2.7399e-20 0.870114 1 0 MASP1 5648 broad.mit.edu 37 3 186954176 186954176 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:186954176C>G ENST00000296280.6 - 11 1708 c.1483G>C c.(1483-1485)Gca>Cca p.A495P MASP1_ENST00000392472.2_Missense_Mutation_p.A382P|MASP1_ENST00000495249.1_Splice_Site|MASP1_ENST00000337774.5_Intron NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 488 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ACATGAGCTGCTGTGAGGATC 0.587000 23 24 0 0 0.681144 0 0 GPC5 2262 broad.mit.edu 37 13 92797109 92797109 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:92797109T>A ENST00000377067.3 + 7 1800 c.1428T>A c.(1426-1428)ccT>ccA p.P476P NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 476 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) CACCCAAACCTGACAAGTGGG 0.418000 26 109 0 0 0.769981 0 0 ZNF354C 30832 broad.mit.edu 37 5 178506242 178506242 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:178506242A>C ENST00000315475.6 + 5 1115 c.809A>C c.(808-810)aAa>aCa p.K270T NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|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;0.247) ACTGGAGAGAAACCTTACAAG 0.398000 27 42 0 0 0.706142 0 0 ZNF519 162655 broad.mit.edu 37 18 14106130 14106130 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:14106130C>T ENST00000590202.1 - 3 561 c.409G>A c.(409-411)Gaa>Aaa p.E137K ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 ATACATGGTTCTGTAGGAGCA 0.279000 6 42 0 0 0.278610 0 0 OR56A3 390083 broad.mit.edu 37 11 5969254 5969254 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:5969254G>T ENST00000329564.6 + 1 685 c.678G>T c.(676-678)ctG>ctT p.L226L NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTTCATTCTGCGAGCTGTGC 0.522000 44 172 2.74695e-27 4.38067e-27 0.870114 1 0 NOS1 4842 broad.mit.edu 37 12 117665347 117665347 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:117665347G>T ENST00000317775.6 - 23 4190 c.3505C>A c.(3505-3507)Ctg>Atg p.L1169M NOS1_ENST00000338101.4_Missense_Mutation_p.L1203M|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1169 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGCTGGGTCAGGAGCAGGGTG 0.582000 125 87 4.4197e-54 8.04307e-54 0.870114 1 0 ANKRD33 341405 broad.mit.edu 37 12 52284917 52284917 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:52284917G>T ENST00000301190.6 + 5 1414 c.1187G>T c.(1186-1188)aGg>aTg p.R396M ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Intron|ANKRD33_ENST00000538991.1_Intron NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) ACCAGCCCCAGGCCCCAAGTC 0.617000 56 41 2.73361e-28 4.40577e-28 0.870114 1 0 SLC25A40 55972 broad.mit.edu 37 7 87473180 87473180 + Splice_Site SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:87473180T>A ENST00000341119.5 - 9 978 c.e9-2 NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) AGTACATTGCTATAAAAACAG 0.289000 5 27 0 0 0.217242 0 0 MYO10 4651 broad.mit.edu 37 5 16670930 16670930 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:16670930C>T ENST00000513610.1 - 39 6042 c.5588G>A c.(5587-5589)cGc>cAc p.R1863H MYO10_ENST00000505695.1_Missense_Mutation_p.R1202H|MYO10_ENST00000274203.9_Missense_Mutation_p.R1220H|MYO10_ENST00000515803.1_Missense_Mutation_p.R1202H|MYO10_ENST00000427430.2_Missense_Mutation_p.R1220H NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1863 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CTGGCTGATGCGGGCCTTGAG 0.587000 11 98 0 0 0.435327 0 0 PANK1 53354 broad.mit.edu 37 10 91359022 91359022 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:91359022C>G ENST00000307534.4 - 3 1452 c.1297G>C c.(1297-1299)Gtt>Ctt p.V433L PANK1_ENST00000371774.2_Missense_Mutation_p.V235L|PANK1_ENST00000342512.3_Missense_Mutation_p.V208L|PANK1_ENST00000322191.6_Missense_Mutation_p.V208L NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 433 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) GTCCCTGTAACTCTTTTATAG 0.408000 47 54 0 0 0.870114 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174068 207174068 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:207174068C>T ENST00000374423.3 + 5 5202 c.4816C>T c.(4816-4818)Cgg>Tgg p.R1606W NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1606 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 AATAATAAACCGGAAGAAGGA 0.373000 6 14 0 0 0.248553 0 0 RHPN2 85415 broad.mit.edu 37 19 33490573 33490573 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:33490573G>T ENST00000254260.3 - 10 1179 c.1144C>A c.(1144-1146)Ctg>Atg p.L382M RHPN2_ENST00000400226.4_Missense_Mutation_p.L231M NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 382 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) AGCTGGGACAGGCACTTCTCC 0.597000 5 76 0.00198382 0.00206208 0.248553 1 0 RAB9B 51209 broad.mit.edu 37 X 103080685 103080685 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:103080685G>A ENST00000243298.2 - 3 314 c.30C>T c.(28-30)gtC>gtT p.V10V NM_016370.2 NP_057454.1 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family 10 Golgi to endosome transport|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(11) 14 CCAAGAGAATGACCTTTAAGA 0.438000 56 155 0 0 0.870114 0 0 ZNF80 7634 broad.mit.edu 37 3 113955126 113955126 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:113955126T>C ENST00000482457.2 - 1 1299 c.796A>G c.(796-798)Atc>Gtc p.I266V NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 266 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) CCAGAGTGGATCTTACTCTGT 0.418000 28 31 0 0 0.788014 0 0 ITGAX 3687 broad.mit.edu 37 16 31382466 31382466 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:31382466G>T ENST00000268296.4 + 15 1893 c.1772G>T c.(1771-1773)gGt>gTt p.G591V ITGAX_ENST00000562522.1_Missense_Mutation_p.G591V NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 591 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CTGAGCGGGGGTCAAGACCTC 0.632000 9 74 1.414e-09 1.68017e-09 0.788014 1 0 IGHV1-58 28464 broad.mit.edu 37 14 107078541 107078541 + RNA SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:107078541T>C ENST00000390628.2 - 0 243 CAAGGCGTTGTCCACGAGCCT 0.527000 30 9 0 0 0.870114 0 0 RPL10L 140801 broad.mit.edu 37 14 47120935 47120935 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:47120935C>A ENST00000298283.3 - 1 93 c.5G>T c.(4-6)gGg>gTg p.G2V NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 2 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 TGGACGGCGCCCCATGGCGAC 0.562000 49 9 1.21353e-23 1.85708e-23 0.870114 1 0 SCPEP1 59342 broad.mit.edu 37 17 55065061 55065061 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:55065061G>T ENST00000262288.3 + 4 376 c.321G>T c.(319-321)caG>caT p.Q107H SCPEP1_ENST00000571898.1_3'UTR NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 107 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) CATAGCTCCAGGCTGCCAGTC 0.478000 65 261 6.47592e-44 1.14414e-43 0.870114 1 0 OR6K2 81448 broad.mit.edu 37 1 158669764 158669764 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:158669764G>T ENST00000359610.2 - 1 722 c.679C>A c.(679-681)Cta>Ata p.L227I NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TGAATACGTAGAATTACAGCC 0.453000 32 164 3.62531e-18 5.16926e-18 0.796494 1 0 VNN2 8875 broad.mit.edu 37 6 133077151 133077151 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:133077151G>T ENST00000326499.6 - 3 492 c.368C>A c.(367-369)gCa>gAa p.A123E VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Missense_Mutation_p.A70E|VNN2_ENST00000525289.1_Missense_Mutation_p.A123E NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 123 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GCTGAGTCTTGCTTGTACTGG 0.368000 4 8 0.184627 0.186163 0.184627 1 0 OGFR 11054 broad.mit.edu 37 20 61439626 61439626 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:61439626G>T ENST00000370461.1 + 1 2389 c.112G>T c.(112-114)Gac>Tac p.D38Y OGFR_ENST00000290291.6_Missense_Mutation_p.D90Y|OGFR_ENST00000370468.3_Missense_Mutation_p.D90Y Q9NZT2 OGFR_HUMAN opioid growth factor receptor 90 DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5). regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) CTGCAATGGGGACACGCCAAA 0.587000 OREG0026118 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 41 1.39649e-27 2.24475e-27 0.760397 1 0 TTN 7273 broad.mit.edu 37 2 179635205 179635205 + Missense_Mutation SNP C C T rs143035953 byFrequency TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:179635205C>T ENST00000589042.1 - 35 8538 c.8314G>A c.(8314-8316)Gtg>Atg p.V2772M TTN_ENST00000359218.5_Missense_Mutation_p.V2726M|TTN_ENST00000342992.6_Missense_Mutation_p.V2772M|TTN_ENST00000360870.5_Missense_Mutation_p.V2772M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V2726M|TTN_ENST00000591111.1_Missense_Mutation_p.V2772M|TTN_ENST00000460472.2_Missense_Mutation_p.V2726M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2510 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V2726L(3)|p.V2772L(2) 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) GACTCATCCACGATGGCACAG 0.433000 33 66 0 0 0.750413 0 0 RASAL2 9462 broad.mit.edu 37 1 178269185 178269185 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:178269185G>T ENST00000448150.3 + 3 1153 c.335G>T c.(334-336)aGg>aTg p.R112M RASAL2_ENST00000367649.3_Missense_Mutation_p.R130M|RASAL2_ENST00000465723.1_3'UTR NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 0 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CGATGCCTGAGGAGAACTGTC 0.468000 OREG0014010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 122 3.69857e-22 5.58935e-22 0.729181 1 0 SLC43A2 124935 broad.mit.edu 37 17 1494673 1494673 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:1494673C>A ENST00000571650.1 - 8 1127 c.821G>T c.(820-822)aGt>aTt p.S274I SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000382147.4_Missense_Mutation_p.S274I|SLC43A2_ENST00000412517.3_Missense_Mutation_p.S137I|SLC43A2_ENST00000301335.4_Missense_Mutation_p.S274I Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 274 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) GCTGCCCACACTCAGGCGCCG 0.632000 69 16 6.09464e-36 1.04038e-35 0.870114 1 0 KCNA4 3739 broad.mit.edu 37 11 30032336 30032336 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:30032336C>T ENST00000328224.6 - 2 3123 c.1890G>A c.(1888-1890)caG>caA p.Q630Q NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 630 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCCCTTTCCCTGACACTTCT 0.478000 48 81 0 0 0.870114 0 0 NRG3 10718 broad.mit.edu 37 10 84118494 84118494 + Splice_Site SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:84118494G>T ENST00000372142.2 + 3 434 c.e3-1 NRG3_ENST00000556918.1_Splice_Site|NRG3_ENST00000372141.2_Splice_Site|NRG3_ENST00000404547.1_Splice_Site|NRG3_ENST00000404576.2_Splice_Site NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TTCCCTGACAGATACGACGAC 0.517000 26 141 7.16026e-08 8.24927e-08 0.760397 1 0 SPSB1 80176 broad.mit.edu 37 1 9416296 9416296 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:9416296G>T ENST00000328089.6 + 2 687 c.346G>T c.(346-348)Ggg>Tgg p.G116W SPSB1_ENST00000377399.2_Missense_Mutation_p.G116W|SPSB1_ENST00000357898.3_Missense_Mutation_p.G116W NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 116 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) CGCCGTGGTGGGGGTGGCGAC 0.667000 35 82 1.45844e-13 1.89253e-13 0.769981 1 0 RYR3 6263 broad.mit.edu 37 15 33955859 33955859 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:33955859A>T ENST00000389232.4 + 36 5610 c.5540A>T c.(5539-5541)gAg>gTg p.E1847V RYR3_ENST00000415757.3_Missense_Mutation_p.E1847V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1847 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CGCTACAATGAGCTCATGCAG 0.577000 6 13 0 0 0.278610 0 0 PEAK1 79834 broad.mit.edu 37 15 77425347 77425347 + Splice_Site SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:77425347C>G ENST00000560626.2 - 6 4552 c.4077_splice c.e6+1 p.K1359_splice PEAK1_ENST00000312493.4_Splice_Site_p.K1359_splice Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1359 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ATTTTCTTACCTTGACTGCAT 0.368000 26 35 0 0 0.706142 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202920093 202920093 + Nonsense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:202920093C>A ENST00000340990.5 - 2 404 c.106G>T c.(106-108)Gag>Tag p.E36* ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.E36*|ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.E36* NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 36 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) TTGCCCTTCTCTTCTAGCAGG 0.527000 85 109 5.00475e-40 8.71517e-40 0.870114 1 0 GPR83 10888 broad.mit.edu 37 11 94113891 94113891 + Silent SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:94113891A>G ENST00000243673.2 - 4 867 c.696T>C c.(694-696)gcT>gcC p.A232A GPR83_ENST00000539203.2_Silent_p.A190A NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 232 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGAAGAGGTCAGCTGGCTCAG 0.572000 16 39 0 0 0.624587 0 0 EPB42 2038 broad.mit.edu 37 15 43501491 43501491 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:43501491C>A ENST00000300215.3 - 6 1360 c.903G>T c.(901-903)ttG>ttT p.L301F EPB42_ENST00000441366.2_Missense_Mutation_p.L271F|EPB42_ENST00000540029.1_Missense_Mutation_p.L193F P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 271 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) CAACAGCAGCCAACACCCAGG 0.632000 12 25 1.52009e-12 1.95995e-12 0.479597 1 0 KLF17 128209 broad.mit.edu 37 1 44595665 44595665 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:44595665G>T ENST00000372299.3 + 2 780 c.722G>T c.(721-723)aGt>aTt p.S241I KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 241 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) TCTCTTGTCAGTCAGCCAGAC 0.557000 27 72 2.68265e-12 3.42972e-12 0.769981 1 0 USP33 23032 broad.mit.edu 37 1 78187836 78187836 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:78187836G>A ENST00000370793.1 - 14 1874 c.1528C>T c.(1528-1530)Cct>Tct p.P510S USP33_ENST00000370792.3_Missense_Mutation_p.P510S|USP33_ENST00000370794.3_Missense_Mutation_p.P479S|USP33_ENST00000357428.1_Missense_Mutation_p.P510S NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 510 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TCCTTGCCAGGAATTGGCAAG 0.413000 30 69 0 0 0.788014 0 0 HGF 3082 broad.mit.edu 37 7 81358978 81358978 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:81358978C>A ENST00000222390.5 - 8 1209 c.983G>T c.(982-984)cGt>cTt p.R328L HGF_ENST00000457544.2_Missense_Mutation_p.R323L NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 328 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 AGAATCCCAACGCTGACATGG 0.443000 37 101 1.57019e-19 2.2764e-19 0.834066 1 0 POTEF 728378 broad.mit.edu 37 2 130877831 130877831 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:130877831G>A ENST00000357462.5 - 1 351 c.258C>T c.(256-258)caC>caT p.H86H POTEF_ENST00000361163.4_Silent_p.H86H|POTEF_ENST00000409914.2_Silent_p.H86H|POTEF_ENST00000360967.5_Silent_p.H86H A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 86 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CAGAGTCGTCGTGGTCTCCAG 0.602000 41 336 0 0 0.870114 0 0 LCT 3938 broad.mit.edu 37 2 136567238 136567238 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:136567238G>T ENST00000264162.2 - 8 2689 c.2679C>A c.(2677-2679)ttC>ttA p.F893L NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 893 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AATCTCTTTCGAACTTGGGTT 0.522000 36 66 2.43468e-25 3.78312e-25 0.870114 1 0 BRCC3 79184 broad.mit.edu 37 X 154344388 154344388 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:154344388T>A ENST00000369462.1 + 9 705 c.680T>A c.(679-681)gTg>gAg p.V227E MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.V227E|BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000330045.7_Missense_Mutation_p.V202E|BRCC3_ENST00000340647.4_Missense_Mutation_p.V203E NM_024332.3 NP_077308.1 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 227 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATCGGGAAAGTGTGCCTTGAA 0.483000 12 17 0 0 0.557998 0 0 APOB 338 broad.mit.edu 37 2 21229797 21229797 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:21229797G>T ENST00000233242.1 - 26 10070 c.9943C>A c.(9943-9945)Ctt>Att p.L3315I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3315 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) GGAAGAGAAAGCTTGAGATTT 0.403000 21 75 1.87028e-06 2.08728e-06 0.608945 1 0 NXPE4 54827 broad.mit.edu 37 11 114450956 114450956 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:114450956C>T ENST00000375478.3 - 5 1177 c.997G>A c.(997-999)Gct>Act p.A333T NXPE4_ENST00000424261.2_Missense_Mutation_p.A49T NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 TTGACTGTAGCCAAACTACAG 0.438000 48 69 0 0 0.870114 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47122352 47122352 + Splice_Site SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:47122352G>T ENST00000290341.3 + 12 1654 c.e12-1 IGF2BP1_ENST00000431824.2_Splice_Site NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TTGCTTTTTAGATTGCACCAC 0.478000 84 127 8.61805e-73 1.5874e-72 0.870114 1 0 OR5D16 390144 broad.mit.edu 37 11 55606407 55606407 + Silent SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:55606407C>G ENST00000378396.1 + 1 180 c.180C>G c.(178-180)ccC>ccG p.P60P NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TGCATACCCCCATGTATTTTT 0.433000 53 191 0 0 0.870114 0 0 NOP14 8602 broad.mit.edu 37 4 2964864 2964864 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:2964864C>A ENST00000416614.2 - 1 248 c.183G>T c.(181-183)cgG>cgT p.R61R NOP14_ENST00000502735.1_Silent_p.R61R|NOP14_ENST00000398071.4_Silent_p.R61R|NOP14_ENST00000314262.6_Silent_p.R61R P78316 NOP14_HUMAN NOP14 nucleolar protein 61 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 TCCTGAGGGCCCGTGCGCGAG 0.667000 50 63 7.10676e-39 1.23049e-38 0.870114 1 0 LRFN5 145581 broad.mit.edu 37 14 42357153 42357153 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:42357153C>A ENST00000554171.1 + 5 3757 c.1325C>A c.(1324-1326)cCt>cAt p.P442H LRFN5_ENST00000298119.4_Missense_Mutation_p.P442H|LRFN5_ENST00000554120.1_Missense_Mutation_p.P442H Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 442 Fibronectin type-III. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AGAAATATCCCTGGAATACGT 0.333000 HNSCC(30;0.082) 10 24 1.61879e-10 1.97382e-10 0.411799 1 0 NRK 203447 broad.mit.edu 37 X 105181509 105181509 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:105181509T>C ENST00000428173.2 + 22 4040 c.3737T>C c.(3736-3738)aTa>aCa p.I1246T NRK_ENST00000243300.9_Missense_Mutation_p.I1245T Q7Z2Y5 NRK_HUMAN Nik related kinase 1245 CNH. 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 ACTAAACTTATAAGGCGAAGA 0.373000 HNSCC(51;0.14) 8 23 0 0 0.387290 0 0 ESR2 2100 broad.mit.edu 37 14 64727335 64727335 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:64727335C>T ENST00000557772.1 - 4 783 c.784G>A c.(784-786)Gcc>Acc p.A262T ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Missense_Mutation_p.A262T|ESR2_ENST00000358599.5_Missense_Mutation_p.A262T|ESR2_ENST00000341099.4_Missense_Mutation_p.A262T|ESR2_ENST00000555278.1_Missense_Mutation_p.A262T|ESR2_ENST00000267525.6_Missense_Mutation_p.A262T|ESR2_ENST00000353772.3_Missense_Mutation_p.A262T|ESR2_ENST00000554572.1_Missense_Mutation_p.A262T|ESR2_ENST00000553796.1_Missense_Mutation_p.A262T|ESR2_ENST00000542956.1_Missense_Mutation_p.A262T NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 262 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) GGGCTCAGGGCGTCCAGCAGC 0.682000 19 9 0 0 0.557998 0 0 ZNF394 84124 broad.mit.edu 37 7 99097565 99097565 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:99097565G>A ENST00000337673.6 - 1 355 c.152C>T c.(151-153)cCc>cTc p.P51L ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.P51L|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000493485.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 51 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGGATAGTTGGGCTCCCAACT 0.647000 47 26 0 0 0.870114 0 0 SLFN5 162394 broad.mit.edu 37 17 33585709 33585709 + Translation_Start_Site SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:33585709G>A ENST00000299977.4 + 0 148 SLFN5_ENST00000542451.1_De_novo_Start_InFrame|SLFN5_ENST00000592325.1_De_novo_Start_InFrame NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GTGCTGAGAAGATGAGTCTTA 0.448000 48 59 0 0 0.870114 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74874385 74874385 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:74874385G>T ENST00000331628.3 - 4 817 c.570C>A c.(568-570)gcC>gcA p.A190A SYNDIG1L_ENST00000554823.1_Silent_p.A190A NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 190 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 CTTTGGAGATGGCCTTGCTGG 0.657000 31 55 4.62619e-21 6.87125e-21 0.796494 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253764 32253764 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr21:32253764G>T ENST00000332378.4 - 1 110 c.80C>A c.(79-81)aCc>aAc p.T27N NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 27 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 GGAAGTCGTGGTAACTTGGGC 0.557000 23 54 2.48779e-11 3.0957e-11 0.693898 1 0 EP400 57634 broad.mit.edu 37 12 132512784 132512784 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:132512784A>T ENST00000333577.4 + 28 5549 c.5440A>T c.(5440-5442)Atg>Ttg p.M1814L EP400_ENST00000332482.4_Missense_Mutation_p.M1741L|EP400_ENST00000389561.2_Missense_Mutation_p.M1778L|EP400_ENST00000389562.2_Missense_Mutation_p.M1777L|EP400_ENST00000330386.6_Missense_Mutation_p.M1697L Q96L91 EP400_HUMAN E1A binding protein p400 1814 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AAGTGAGCTGATGTTGACGCT 0.572000 26 220 0 0 0.729181 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763897 110763897 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:110763897G>T ENST00000368919.3 - 4 799 c.733C>A c.(733-735)Cat>Aat p.H245N SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.H245N|SLC22A16_ENST00000330550.4_Missense_Mutation_p.H211N NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 245 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GAATGCAAATGGACAGACGCC 0.473000 33 7 1.99505e-19 2.87858e-19 0.760397 1 0 ABCA13 154664 broad.mit.edu 37 7 48452032 48452032 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:48452032T>C ENST00000435803.1 + 41 12335 c.12311T>C c.(12310-12312)cTc>cCc p.L4104P NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4104 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAAGCATTTCTCAAAGACAGC 0.463000 13 34 0 0 0.411799 0 0 MROH6 642475 broad.mit.edu 37 8 144652231 144652231 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:144652231T>C ENST00000398882.3 - 7 1304 c.1048A>G c.(1048-1050)Atg>Gtg p.M350V NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 TGTGCCACCATAGCACTGGGG 0.637000 9 45 0 0 0.387290 0 0 KIAA1109 84162 broad.mit.edu 37 4 123270673 123270673 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:123270673G>T ENST00000264501.4 + 79 13880 c.13507G>T c.(13507-13509)Gct>Tct p.A4503S KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4503S Q2LD37 K1109_HUMAN KIAA1109 4503 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TTCTACTGAAGCTCGTGTTGA 0.348000 5 10 0.184627 0.186163 0.184627 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107460219 107460219 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:107460219C>A ENST00000409382.3 - 2 825 c.215G>T c.(214-216)gGg>gTg p.G72V ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G72V|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G72V NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 72 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GTCCAGGCCCCCAGGCGGGGA 0.706000 11 8 3.07112e-06 3.4086e-06 0.387290 1 0 SERPINB3 6317 broad.mit.edu 37 18 61324569 61324569 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:61324569T>C ENST00000283752.5 - 6 690 c.547A>G c.(547-549)Aaa>Gaa p.K183E SERPINB3_ENST00000332821.8_Missense_Mutation_p.K183E|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 183 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CACTGCCCTTTGAAATAGATT 0.303000 25 6 0 0 0.769981 0 0 OPN4 94233 broad.mit.edu 37 10 88415952 88415952 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:88415952C>A ENST00000372071.2 + 2 412 c.185C>A c.(184-186)aCg>aAg p.T62K OPN4_ENST00000241891.5_Missense_Mutation_p.T62K NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 62 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 CCCCTCCCCACGGTTGATGTT 0.567000 47 47 4.10826e-27 6.48335e-27 0.870114 1 0 RASA3 22821 broad.mit.edu 37 13 114793323 114793323 + Splice_Site SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:114793323C>A ENST00000334062.7 - 6 651 c.530_splice c.e6+1 p.R177_splice RASA3_ENST00000542651.1_3'UTR|RASA3_ENST00000389544.4_Splice_Site_p.R145_splice NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 177 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) GGCAACTTGCCTGAAGGGTCC 0.602000 29 110 3.76114e-14 4.96568e-14 0.796494 1 0 IVNS1ABP 10625 broad.mit.edu 37 1 185270182 185270182 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:185270182C>T ENST00000367498.3 - 10 1664 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.E130K NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 348 Sufficient for AHR interaction and signaling. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 ATGGGCTTTTCGATTAGCTCA 0.438000 31 87 0 0 0.819951 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709842 128709842 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:128709842G>T ENST00000392665.2 - 2 441 c.297C>A c.(295-297)caC>caA p.H99Q KCNJ1_ENST00000324036.3_Missense_Mutation_p.H99Q|KCNJ1_ENST00000392666.1_Missense_Mutation_p.H99Q|KCNJ1_ENST00000440599.2_Missense_Mutation_p.H99Q|KCNJ1_ENST00000392664.2_Missense_Mutation_p.H118Q NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 118 W -> C (in BS2). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CACAGGGAGTGTGATTGGCAG 0.463000 11 26 0.00829132 0.00855969 0.361761 1 0 NLRP4 147945 broad.mit.edu 37 19 56370072 56370072 + Missense_Mutation SNP T T G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:56370072T>G ENST00000301295.6 + 3 1735 c.1313T>G c.(1312-1314)cTt>cGt p.L438R NLRP4_ENST00000587891.1_Missense_Mutation_p.L363R|NLRP4_ENST00000346986.5_Missense_Mutation_p.L438R NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 438 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACCAAGATACTTCTGAAGTAC 0.527000 31 43 0 0 0.769981 0 0 RALGPS2 55103 broad.mit.edu 37 1 178780464 178780464 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:178780464T>A ENST00000367635.3 + 6 650 c.312T>A c.(310-312)gtT>gtA p.V104V RALGPS2_ENST00000367634.2_Silent_p.V104V|RALGPS2_ENST00000324778.4_Silent_p.V69V NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 104 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GCTTTTGGGTTGTTAGAGAGA 0.244000 41 53 0 0 0.870114 0 0 KRT6A 3853 broad.mit.edu 37 12 52885425 52885425 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:52885425C>A ENST00000330722.6 - 2 704 c.636G>T c.(634-636)ccG>ccT p.P212P NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 212 Linker 1.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCTCGAACAACGGCTCCAGGT 0.592000 29 113 4.34311e-12 5.52925e-12 0.779181 1 0 TRIM16L 147166 broad.mit.edu 37 17 18630883 18630883 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:18630883G>A ENST00000449552.2 + 4 1497 c.13G>A c.(13-15)Gaa>Aaa p.E5K TRIM16L_ENST00000395672.2_Missense_Mutation_p.E5K|TRIM16L_ENST00000414850.2_Missense_Mutation_p.E5K|TRIM16L_ENST00000571708.1_Missense_Mutation_p.E5K|TRIM16L_ENST00000572555.1_Missense_Mutation_p.E5K|TRIM16L_ENST00000395671.4_Missense_Mutation_p.E5K|TRIM16L_ENST00000395902.3_Missense_Mutation_p.E59K Q309B1 TR16L_HUMAN tripartite motif containing 16-like 5 cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 GCAGTTTGGGGAACTCCTTGC 0.572000 27 116 0 0 0.840704 0 0 LMX1A 4009 broad.mit.edu 37 1 165183011 165183011 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:165183011T>A ENST00000342310.3 - 5 918 c.536A>T c.(535-537)cAt>cTt p.H179L LMX1A_ENST00000294816.2_Missense_Mutation_p.H179L|LMX1A_ENST00000367893.4_Missense_Mutation_p.H179L NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CCCTGCCCCATGGGCTGACTT 0.498000 82 69 0 0 0.870114 0 0 OR13H1 347468 broad.mit.edu 37 X 130678561 130678561 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:130678561G>A ENST00000338616.3 + 1 612 c.514G>A c.(514-516)Gtc>Atc p.V172I NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TGGGGCTAATGTCATCAACCA 0.478000 97 126 0 0 0.870114 0 0 LRP1B 53353 broad.mit.edu 37 2 141359036 141359036 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:141359036G>T ENST00000389484.3 - 42 7943 c.6972C>A c.(6970-6972)gcC>gcA p.A2324A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2324 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) ATTCATCCAAGGCTAGCACAT 0.388000 TSP Lung(27;0.18) 18 49 3.5997e-14 4.77334e-14 0.624587 1 0 POSTN 10631 broad.mit.edu 37 13 38171387 38171387 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:38171387C>G ENST00000379747.4 - 2 269 c.152G>C c.(151-153)gGc>gCc p.G51A POSTN_ENST00000541179.1_Missense_Mutation_p.G51A|POSTN_ENST00000379743.4_Missense_Mutation_p.G51A|POSTN_ENST00000379742.4_Missense_Mutation_p.G51A|POSTN_ENST00000379749.4_Missense_Mutation_p.G51A|POSTN_ENST00000541481.1_Missense_Mutation_p.G51A NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 51 EMI. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CTTTTTGGTGCCCAAAATCTG 0.348000 12 16 0 0 0.457914 0 0 NDST4 64579 broad.mit.edu 37 4 115997732 115997732 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:115997732C>A ENST00000264363.2 - 2 1139 c.461G>T c.(460-462)tGt>tTt p.C154F NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 154 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GTATTCCACACAGTATTTTTC 0.323000 15 37 8.04996e-18 1.13448e-17 0.608945 1 0 WAS 7454 broad.mit.edu 37 X 48546836 48546836 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:48546836C>T ENST00000376701.4 + 9 1000 c.925C>T c.(925-927)Cgc>Tgc p.R309C NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 309 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) GGAGATGAGGCGCCAGGGTGA 0.562000 """Mis, N, F, S""" lymphoma 12 27 0 0 0.520397 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562949 140562949 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:140562949G>C ENST00000361016.2 + 1 1970 c.815G>C c.(814-816)gGa>gCa p.G272A NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 272 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.G272L(1)|p.G272V(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTAGACGGCGGAGCCAATGGA 0.488000 47 10 0 0 0.870114 0 0 SLC8A3 6547 broad.mit.edu 37 14 70515616 70515616 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:70515616C>T ENST00000381269.2 - 7 3028 c.2275G>A c.(2275-2277)Gcc>Acc p.A759T SLC8A3_ENST00000534137.1_Missense_Mutation_p.A756T|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A757T|SLC8A3_ENST00000216568.7_Missense_Mutation_p.A130T|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A753T|SLC8A3_ENST00000394330.2_Missense_Mutation_p.A116T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A757T|SLC8A3_ENST00000533541.1_Missense_Mutation_p.A116T NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 759 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) ATGGAGACGGCGAAGCAGGCC 0.572000 20 19 0 0 0.639603 0 0 ZNF208 7757 broad.mit.edu 37 19 22170020 22170020 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:22170020G>C ENST00000397126.4 - 3 372 c.224C>G c.(223-225)cCa>cGa p.P75R ZNF208_ENST00000599916.1_Missense_Mutation_p.P75R|ZNF208_ENST00000597040.1_Missense_Mutation_p.P43R|ZNF208_ENST00000601773.1_Missense_Mutation_p.P75R NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCACCTACCTGGGGATTCTTC 0.443000 10 27 0 0 0.335167 0 0 TMEM106C 79022 broad.mit.edu 37 12 48361989 48361989 + Nonsense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:48361989G>T ENST00000429772.2 + 8 843 c.730G>T c.(730-732)Gga>Tga p.G244* TMEM106C_ENST00000256686.6_Nonsense_Mutation_p.G225*|TMEM106C_ENST00000550552.1_Nonsense_Mutation_p.G225*|TMEM106C_ENST00000449758.2_Nonsense_Mutation_p.G225*|TMEM106C_ENST00000552561.1_Nonsense_Mutation_p.G244*|TMEM106C_ENST00000552546.1_Nonsense_Mutation_p.G173* NM_001143842.1 NP_001137314.1 Q9BVX2 T106C_HUMAN transmembrane protein 106C 244 endoplasmic reticulum membrane|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) TGTGGATTGTGGAGGAAATTC 0.448000 53 48 3.07184e-27 4.88592e-27 0.870114 1 0 GBP1P1 400759 broad.mit.edu 37 1 89886666 89886666 + RNA SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:89886666C>G ENST00000513638.1 + 0 444 NR_003133.2 ACTCCTGGATCTTCGCCCTGG 0.498000 12 66 0 0 0.457914 0 0 IFNA10 3446 broad.mit.edu 37 9 21206925 21206925 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:21206925C>A ENST00000357374.2 - 1 217 c.172G>T c.(172-174)Gat>Tat p.D58Y NM_002171.1 NP_002162.1 P01566 IFN10_HUMAN interferon, alpha 10 58 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) ATTCGGAAATCATGTCTGTCC 0.512000 65 32 2.08929e-35 3.54652e-35 0.870114 1 0 CCDC135 84229 broad.mit.edu 37 16 57734084 57734084 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:57734084A>T ENST00000360716.3 + 5 627 c.406A>T c.(406-408)Aca>Tca p.T136S RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.T136S|CCDC135_ENST00000394337.4_Missense_Mutation_p.T136S Q8IY82 CC135_HUMAN coiled-coil domain containing 135 136 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CCTCCGGCCCACACTGATGCC 0.577000 76 221 0 0 0.870114 0 0 F13A1 2162 broad.mit.edu 37 6 6167839 6167839 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:6167839G>T ENST00000264870.3 - 13 2025 c.1760C>A c.(1759-1761)gCg>gAg p.A587E NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 587 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GATCAGCACCGCCTCTTTCTT 0.527000 5 24 2.0095e-06 2.23852e-06 0.248553 1 0 SLC17A4 10050 broad.mit.edu 37 6 25770367 25770367 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:25770367G>T ENST00000377905.4 + 4 489 c.370G>T c.(370-372)Gct>Tct p.A124S SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 124 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTCATTCTTGGCTCCAATCCC 0.478000 41 116 7.05121e-23 1.07363e-22 0.853193 1 0 RP1 6101 broad.mit.edu 37 8 55540628 55540628 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:55540628T>A ENST00000220676.1 + 4 4334 c.4186T>A c.(4186-4188)Tta>Ata p.L1396I NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1396 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) TGTCAGTAATTTAAGCTCCTG 0.323000 4 109 0 0 0.248553 0 0 C5orf54 63920 broad.mit.edu 37 5 159821765 159821765 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:159821765C>T ENST00000408953.3 - 2 1240 c.733G>A c.(733-735)Gcc>Acc p.A245T C5orf54_ENST00000523213.1_Missense_Mutation_p.A245T NM_022090.3 NP_071373.2 Q8IZ13 CE054_HUMAN chromosome 5 open reading frame 54 245 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 atagaggaggcaccatcagta 0.393000 28 41 0 0 0.750413 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458191 20458191 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr22:20458191G>T ENST00000426804.1 - 1 3595 c.3111C>A c.(3109-3111)ggC>ggA p.G1037G NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) AGCAGCTCACGCCCGCTGGGG 0.642000 5 24 0.0293803 0.0300751 0.248553 1 0 AARS2 57505 broad.mit.edu 37 6 44270197 44270197 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:44270197C>A ENST00000244571.4 - 18 2420 c.2418G>T c.(2416-2418)cgG>cgT p.R806R TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 806 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CCAGACTCAGCCGCTCAGTGG 0.637000 28 25 6.07407e-21 8.97778e-21 0.717897 1 0 ZNF470 388566 broad.mit.edu 37 19 57086030 57086030 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:57086030G>T ENST00000330619.8 + 5 897 c.211G>T c.(211-213)Gtg>Ttg p.V71L ZNF470_ENST00000391709.3_Missense_Mutation_p.V71L|ZNF470_ENST00000601902.1_Missense_Mutation_p.V71L NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TAAACCAGATGTGATCTCCTT 0.413000 12 25 5.50884e-06 6.08079e-06 0.411799 1 0 NAV3 89795 broad.mit.edu 37 12 78598773 78598773 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:78598773C>G ENST00000397909.2 + 39 7066 c.6893C>G c.(6892-6894)cCa>cGa p.P2298R NAV3_ENST00000266692.7_Missense_Mutation_p.P2099R|NAV3_ENST00000228327.6_Missense_Mutation_p.P2276R|NAV3_ENST00000541270.1_Missense_Mutation_p.P128R|NAV3_ENST00000536525.2_Missense_Mutation_p.P2276R Q8IVL0 NAV3_HUMAN neuron navigator 3 2298 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GACACATATCCATGGAGCTCA 0.468000 HNSCC(70;0.22) 37 24 0 0 0.870114 0 0 PCLO 27445 broad.mit.edu 37 7 82545274 82545274 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:82545274C>A ENST00000423517.2 - 7 12365 c.12028G>T c.(12028-12030)Gac>Tac p.D4010Y PCLO_ENST00000333891.8_Missense_Mutation_p.D4010Y|PCLO_ENST00000437081.1_Missense_Mutation_p.D730Y NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3941 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 ATTCTCAAGTCTAAACTATTG 0.393000 74 177 2.08937e-45 3.724e-45 0.870114 1 0 OR5P3 120066 broad.mit.edu 37 11 7847496 7847496 + Silent SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:7847496A>G ENST00000328375.1 - 1 23 c.24T>C c.(22-24)acT>acC p.T8T RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTCTACCACAGTGGTGTCAT 0.348000 7 22 0 0 0.557998 0 0 IL2 3558 broad.mit.edu 37 4 123377472 123377472 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:123377472G>T ENST00000226730.4 - 1 408 c.124C>A c.(124-126)Cag>Aag p.Q42K NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 42 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) AAAATCATCTGTAAATCCAGC 0.323000 T TNFRSF17 intestinal T-cell lymphoma 11 19 0.000151284 0.000160558 0.435327 1 0 SOX6 55553 broad.mit.edu 37 11 15994631 15994631 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:15994631T>A ENST00000352083.6 - 16 2288 c.2211A>T c.(2209-2211)acA>acT p.T737T SOX6_ENST00000396356.3_Silent_p.T717T|SOX6_ENST00000528252.1_Silent_p.T710T|SOX6_ENST00000528429.1_Silent_p.T737T|SOX6_ENST00000527619.1_Silent_p.T713T|SOX6_ENST00000316399.6_Silent_p.T717T P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 737 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 CACCTGTTCCTGTGGTGATTG 0.458000 13 46 0 0 0.500413 0 0 LAMB1 3912 broad.mit.edu 37 7 107603453 107603453 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:107603453C>A ENST00000393561.1 - 13 2010 c.1826G>T c.(1825-1827)gGa>gTa p.G609V LAMB1_ENST00000393560.1_Missense_Mutation_p.G585V|LAMB1_ENST00000222399.6_Missense_Mutation_p.G585V P07942 LAMB1_HUMAN laminin, beta 1 585 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAGCCGGCTCCAGTCCAGGA 0.483000 91 80 2.73351e-49 4.91545e-49 0.870114 1 0 AHNAK2 113146 broad.mit.edu 37 14 105412059 105412059 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:105412059G>T ENST00000333244.5 - 7 9848 c.9729C>A c.(9727-9729)ggC>ggA p.G3243G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3243 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTATCTGGGGGCCCTTGCGAT 0.612000 45 63 1.17673e-23 1.80531e-23 0.870114 1 0 LINC00886 730091 broad.mit.edu 37 3 156528506 156528506 + RNA SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:156528506C>A ENST00000472943.1 - 0 148 NR_038387.1 TCCTGCTGCTCATCCTTGCCC 0.567000 43 60 5.2432e-18 7.44117e-18 0.870114 1 0 OR4A16 81327 broad.mit.edu 37 11 55111575 55111575 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:55111575G>T ENST00000314721.2 + 1 949 c.899G>T c.(898-900)tGg>tTg p.W300L NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 300 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 AAAAATCTCTGGTGTGAAAAG 0.318000 16 19 9.16793e-09 1.06842e-08 0.520397 1 0 LAMB2 3913 broad.mit.edu 37 3 49168209 49168209 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:49168209G>A ENST00000418109.1 - 9 1164 c.1000C>T c.(1000-1002)Cgt>Tgt p.R334C LAMB2_ENST00000305544.4_Missense_Mutation_p.R334C NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 334 Laminin EGF-like 1. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCAGCCGGACGCCAGGGCAGG 0.577000 4 158 0 0 0.150653 0 0 KRT37 8688 broad.mit.edu 37 17 39580623 39580623 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:39580623G>A ENST00000225550.3 - 1 152 c.153C>T c.(151-153)caC>caT p.H51H AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 51 Head. intermediate filament structural molecule activity p.H51H(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CTCTGTTGGCGTGTGCCACGT 0.612000 4 131 0 0 0.184627 0 0 FLNC 2318 broad.mit.edu 37 7 128483612 128483612 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:128483612A>C ENST00000325888.8 + 18 3053 c.2792A>C c.(2791-2793)aAg>aCg p.K931T FLNC_ENST00000346177.6_Missense_Mutation_p.K931T NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 931 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TACACTGTCAAGTACACCGCT 0.627000 3 111 0 0 0.150653 0 0 NEU2 4759 broad.mit.edu 37 2 233899621 233899621 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:233899621G>T ENST00000233840.3 + 2 997 c.997G>T c.(997-999)Gcc>Tcc p.A333S NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 333 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) GGGCAGCTGTGCCTACTCAGA 0.612000 47 108 1.08114e-33 1.82499e-33 0.870114 1 0 FAM184A 79632 broad.mit.edu 37 6 119341148 119341148 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:119341148C>T ENST00000338891.7 - 4 1770 c.1327G>A c.(1327-1329)Gag>Aag p.E443K RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.E323K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E323K|FAM184A_ENST00000368475.4_Missense_Mutation_p.E323K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E443K NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 443 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTTACCTTCTCCAGTTCTAGA 0.403000 21 37 0 0 0.729181 0 0 BCAT1 586 broad.mit.edu 37 12 24989465 24989465 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:24989465G>A ENST00000261192.7 - 8 1409 c.883C>T c.(883-885)Ctg>Ttg p.L295L BCAT1_ENST00000538118.1_Silent_p.L294L|BCAT1_ENST00000539282.1_Silent_p.L307L|BCAT1_ENST00000544418.1_5'UTR|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000342945.5_Silent_p.L234L|BCAT1_ENST00000539780.1_Silent_p.L258L NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 295 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) GCCAGGTCCAGAATGCACCGC 0.418000 82 37 0 0 0.870114 0 0 ZNF519 162655 broad.mit.edu 37 18 14106261 14106261 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:14106261C>G ENST00000590202.1 - 3 430 c.278G>C c.(277-279)gGa>gCa p.G93A ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TTCCTTTTGTCCTTCACCTTC 0.338000 12 75 0 0 0.411799 0 0 NRK 203447 broad.mit.edu 37 X 105181572 105181572 + Nonsense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:105181572C>G ENST00000428173.2 + 22 4103 c.3800C>G c.(3799-3801)tCa>tGa p.S1267* NRK_ENST00000243300.9_Nonsense_Mutation_p.S1266* Q7Z2Y5 NRK_HUMAN Nik related kinase 1266 CNH. 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 ATTACCATCTCAGGTTTGTTT 0.378000 HNSCC(51;0.14) 17 28 0 0 0.681144 0 0 RNF7 9616 broad.mit.edu 37 3 141457314 141457314 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:141457314A>G ENST00000273480.3 + 1 269 c.131A>G c.(130-132)gAc>gGc p.D44G RNF7_ENST00000393000.3_Missense_Mutation_p.D44G|RNF7_ENST00000480908.1_Missense_Mutation_p.D44G NM_014245.4|NM_183237.2 NP_055060.1|NP_899060.1 Q9UBF6 RBX2_HUMAN ring finger protein 7 44 anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state cytoplasm|nucleus copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 TGGAGCTGGGACGTGGAGTGC 0.672000 OREG0015854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 11 0 0 0.500413 0 0 OR10V1 390201 broad.mit.edu 37 11 59480759 59480759 + Missense_Mutation SNP C C G rs141649641 byFrequency TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:59480759C>G ENST00000307552.2 - 1 578 c.560G>C c.(559-561)cGc>cCc p.R187P NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 ACAAGCCAGGCGCATGACTGC 0.483000 19 79 0 0 0.624587 0 0 COL1A2 1278 broad.mit.edu 37 7 94057008 94057008 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:94057008G>A ENST00000297268.6 + 49 3808 c.3337G>A c.(3337-3339)Gat>Aat p.D1113N NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1113 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTTTGGTTACGATGGAGACTT 0.547000 HNSCC(75;0.22) 38 71 0 0 0.870114 0 0 CSTF1 1477 broad.mit.edu 37 20 54972439 54972439 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:54972439T>C ENST00000217109.4 + 3 698 c.346T>C c.(346-348)Tat>Cat p.Y116H CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 116 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) TGTAGCTACCTATAGTAGAGA 0.448000 71 227 0 0 0.870114 0 0 ANK2 287 broad.mit.edu 37 4 114278223 114278223 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:114278223A>T ENST00000357077.4 + 38 8502 c.8449A>T c.(8449-8451)Act>Tct p.T2817S ANK2_ENST00000264366.6_Missense_Mutation_p.T2784S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2784 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCTCCAAGGCACTCATGAAAA 0.453000 25 38 0 0 0.654019 0 0 GSAP 54103 broad.mit.edu 37 7 76978695 76978695 + Silent SNP T T C rs149462958 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:76978695T>C ENST00000257626.7 - 19 1596 c.1518A>G c.(1516-1518)acA>acG p.T506T NM_017439.3 NP_059135.2 gamma-secretase activating protein CAATGTCTTCTGTCACAAGAG 0.433000 30 77 0 0 0.812448 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136846 80136846 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:80136846C>A ENST00000466387.1 + 11 1703 c.979C>A c.(979-981)Cgg>Agg p.R327R CTNNA2_ENST00000402739.4_Silent_p.R327R|CTNNA2_ENST00000496558.1_Silent_p.R327R|CTNNA2_ENST00000541047.1_Silent_p.R327R|CTNNA2_ENST00000361291.4_Silent_p.R361R|CTNNA2_ENST00000540488.1_Silent_p.R327R P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 327 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GCGAGACGACCGGCGCGAGAG 0.637000 44 23 2.78941e-39 4.8435e-39 0.870114 1 0 PLCB3 5331 broad.mit.edu 37 11 64032796 64032796 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:64032796C>T ENST00000540288.1 + 25 2960 c.2857C>T c.(2857-2859)Ccg>Tcg p.P953S PLCB3_ENST00000279230.6_Missense_Mutation_p.P953S|PLCB3_ENST00000325234.5_Missense_Mutation_p.P886S NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 953 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GGCCCCCACCCCGCTGGATGA 0.687000 9 6 0 0 0.387290 0 0 RGS13 6003 broad.mit.edu 37 1 192627481 192627481 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:192627481C>A ENST00000391995.2 + 6 566 c.278C>A c.(277-279)cCa>cAa p.P93Q RGS13_ENST00000543215.1_Missense_Mutation_p.P93Q|RGS13_ENST00000482095.1_3'UTR NM_002927.4 NP_002918.1 O14921 RGS13_HUMAN regulator of G-protein signaling 13 93 RGS. plasma membrane GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1) 19 TACATCCAGCCACAGTCCCCT 0.423000 31 30 2.32173e-10 2.81958e-10 0.804634 1 0 PANK4 55229 broad.mit.edu 37 1 2452749 2452749 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:2452749T>A ENST00000378466.3 - 3 225 c.213A>T c.(211-213)acA>acT p.T71T PANK4_ENST00000491212.1_5'UTR|PANK4_ENST00000435556.3_Silent_p.T71T NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 71 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GTTCACGTTCTGTGTCCTGGA 0.567000 55 41 0 0 0.870114 0 0 ABCA5 23461 broad.mit.edu 37 17 67300872 67300872 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:67300872A>C ENST00000392676.3 - 7 932 c.868T>G c.(868-870)Tta>Gta p.L290V ABCA5_ENST00000392677.2_Missense_Mutation_p.L290V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L290V Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 290 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) TGAGGAAATAACAAAGAAGCT 0.323000 5 29 0 0 0.248553 0 0 OR2L13 284521 broad.mit.edu 37 1 248262757 248262757 + Nonsense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:248262757T>A ENST00000366478.2 + 3 417 c.80T>A c.(79-81)tTg>tAg p.L27* OR2L13_ENST00000358120.2_Nonsense_Mutation_p.L27* NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ATATTTCTCTTGTGCCTTATC 0.438000 97 140 0 0 0.870114 0 0 GJD2 57369 broad.mit.edu 37 15 35044898 35044898 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:35044898C>T ENST00000290374.4 - 2 1223 c.747G>A c.(745-747)gaG>gaA p.E249E NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 249 synaptic transmission connexon complex|integral to membrane gap junction channel activity p.E249D(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) AGACAGTCTTCTCAGTTGGCC 0.493000 24 34 0 0 0.706142 0 0 LCA5 167691 broad.mit.edu 37 6 80196775 80196775 + Silent SNP T T G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:80196775T>G ENST00000392959.1 - 9 2651 c.2040A>C c.(2038-2040)gcA>gcC p.A680A LCA5_ENST00000369846.4_Silent_p.A680A NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 680 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) CTGCTTTTACTGCTGGTTTAT 0.338000 9 37 0 0 0.435327 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984544 140984544 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:140984544G>A ENST00000544766.1 + 5 633 c.106G>A c.(106-108)Gag>Aag p.E36K MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E36K|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E36K NM_177456.2 NP_803251.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 430 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) AGATGAGGAGGAGGAGGATGc 0.517000 20 27 0 0 0.592651 0 0 LMBRD2 92255 broad.mit.edu 37 5 36122997 36122997 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:36122997G>A ENST00000296603.4 - 8 1351 c.889C>T c.(889-891)Cat>Tat p.H297Y NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 297 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TAGATACTATGCTTTTCATCA 0.269000 19 123 0 0 0.717897 0 0 PTPRT 11122 broad.mit.edu 37 20 40733238 40733238 + Missense_Mutation SNP T T G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:40733238T>G ENST00000373198.3 - 26 3812 c.3577A>C c.(3577-3579)Aac>Cac p.N1193H PTPRT_ENST00000373184.1_Missense_Mutation_p.N1181H|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1170H|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1174H|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1161H|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1180H|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1171H NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1171 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGCTGGAGTTTGTCTGGGGG 0.478000 45 99 0 0 0.870114 0 0 TMEM150B 284417 broad.mit.edu 37 19 55828229 55828229 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:55828229G>A ENST00000326652.4 - 7 612 c.430C>T c.(430-432)Ccc>Tcc p.P144S TMEM150B_ENST00000438693.1_Missense_Mutation_p.P144S A6NC51 T150B_HUMAN transmembrane protein 150B 144 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 CCGGGCTGGGGCAGCCTCTTC 0.632000 3 2 0 0 0.115264 0 0 KRTAP8-1 337879 broad.mit.edu 37 21 32185365 32185365 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr21:32185365C>A ENST00000329621.4 - 1 205 c.174G>T c.(172-174)tcG>tcT p.S58S NM_175857.3 NP_787053.1 Q8IUC2 KRA81_HUMAN keratin associated protein 8-1 58 intermediate filament central_nervous_system(1)|large_intestine(1)|lung(4) 6 GAGCAAATGGCGAGTATCTCC 0.562000 89 73 5.30237e-35 8.97552e-35 0.870114 1 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766861 171766861 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:171766861C>A ENST00000311601.5 - 13 1418 c.1248G>T c.(1246-1248)tgG>tgT p.W416C SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 416 SH3 3. 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) TGGCCGGGGCCCACCCTTCCT 0.557000 17 7 7.45023e-12 9.44526e-12 0.592651 1 0 CCDC91 55297 broad.mit.edu 37 12 28458598 28458598 + Silent SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:28458598T>C ENST00000545336.1 + 7 545 c.126T>C c.(124-126)ctT>ctC p.L42L CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Silent_p.L42L|CCDC91_ENST00000539107.1_Silent_p.L42L|CCDC91_ENST00000306172.5_Silent_p.L12L|CCDC91_ENST00000381256.1_Silent_p.L42L Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 42 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) GAGTCCATCTTTCACCATCTT 0.408000 74 300 0 0 0.870114 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337038 22337038 + RNA SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:22337038C>A ENST00000390436.2 + 0 19 TTGGGAAGAACAAGGATGACA 0.423000 12 13 1.5739e-10 1.93073e-10 0.500413 1 0 RILP 83547 broad.mit.edu 37 17 1552920 1552920 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:1552920C>A ENST00000301336.6 - 1 451 c.179G>T c.(178-180)cGg>cTg p.R60L NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 60 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTCCAGCGCCCGCACCACTAG 0.736000 4 4 0.000602214 0.00063358 0.184627 1 0 L3MBTL4 91133 broad.mit.edu 37 18 6301947 6301947 + Nonsense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:6301947C>A ENST00000400104.3 - 4 282 c.82G>T c.(82-84)Gaa>Taa p.E28* L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.E28*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.E28*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.E28* Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 28 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TTTTCCTCTTCAGCTTGCTCC 0.373000 63 138 3.71121e-27 5.87204e-27 0.870114 1 0 CLEC7A 64581 broad.mit.edu 37 12 10271128 10271128 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:10271128C>A ENST00000353231.5 - 5 693 c.535G>T c.(535-537)Gtg>Ttg p.V179L CLEC7A_ENST00000396484.2_Missense_Mutation_p.V146L|CLEC7A_ENST00000533022.1_Missense_Mutation_p.R185L|CLEC7A_ENST00000298523.5_Missense_Mutation_p.R139L|CLEC7A_ENST00000304084.8_Missense_Mutation_p.V225L NM_022570.4 NP_072092.2 Q9BXN2 CLC7A_HUMAN C-type lectin domain family 7, member A 225 C-type lectin. carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation cytoplasm|integral to membrane metal ion binding|MHC protein binding|sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 ATGACTGACACGTGAATCCAT 0.378000 66 75 4.49761e-31 7.46727e-31 0.870114 1 0 GABPB1 2553 broad.mit.edu 37 15 50595209 50595209 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:50595209C>T ENST00000380877.3 - 4 811 c.388G>A c.(388-390)Gta>Ata p.V130I GABPB1_ENST00000560825.1_Missense_Mutation_p.V130I|GABPB1_ENST00000359031.4_Missense_Mutation_p.V130I|GABPB1_ENST00000429662.2_Missense_Mutation_p.V130I|GABPB1_ENST00000543881.1_Missense_Mutation_p.V54I|GABPB1_ENST00000220429.8_Missense_Mutation_p.V130I|GABPB1_ENST00000396464.3_Missense_Mutation_p.V130I NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 130 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 TGCGTGTGTACATCAGCACCA 0.353000 21 42 0 0 0.639603 0 0 SLC25A31 83447 broad.mit.edu 37 4 128651828 128651828 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:128651828G>T ENST00000281154.4 + 1 296 c.128G>T c.(127-129)cGg>cTg p.R43L NM_031291.2 NP_112581.1 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 43 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 CCCATCGAGCGGGTGAAGCTG 0.652000 13 30 7.93312e-07 8.88627e-07 0.457914 1 0 KIR2DL3 3804 broad.mit.edu 37 19 55263928 55263928 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:55263928C>T ENST00000342376.3 + 8 1014 c.983C>T c.(982-984)aCa>aTa p.T328I CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) ACACCCCCAACAGATATCATC 0.507000 89 160 0 0 0.870114 0 0 SLC12A9 56996 broad.mit.edu 37 7 100451777 100451777 + Splice_Site SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:100451777G>T ENST00000354161.3 + 2 83 c.e2-1 SLC12A9_ENST00000275729.3_Splice_Site|SLC12A9_ENST00000540482.1_Splice_Site|SLC12A9_ENST00000415287.1_Splice_Site|SLC12A9_ENST00000428758.1_Splice_Site NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CTCCTTTGCAGGTCACCTAAC 0.577000 10 33 0.00010058 0.000106932 0.411799 1 0 NNT 23530 broad.mit.edu 37 5 43616166 43616166 + Splice_Site SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:43616166G>T ENST00000264663.5 + 4 819 c.599_splice c.e4+1 p.G200_splice NNT_ENST00000344920.4_Splice_Site_p.G200_splice|NNT_ENST00000512996.2_Splice_Site_p.G69_splice NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 200 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CAACATTGCGGGGTAGGTTCT 0.413000 25 191 2.46105e-21 3.66437e-21 0.750413 1 0 EPHB6 2051 broad.mit.edu 37 7 142564038 142564038 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:142564038G>A ENST00000392957.2 + 9 2213 c.1426G>A c.(1426-1428)Gct>Act p.A476T EPHB6_ENST00000411471.2_Missense_Mutation_p.A199T|EPHB6_ENST00000442129.1_Missense_Mutation_p.A476T NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 476 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.A461S(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCCTCCTCAGGCTGCAGCCAT 0.592000 13 31 0 0 0.520397 0 0 ELP4 26610 broad.mit.edu 37 11 31653874 31653874 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:31653874G>T ENST00000395934.2 + 7 856 c.849G>T c.(847-849)aaG>aaT p.K283N ELP4_ENST00000350638.5_Missense_Mutation_p.K283N|ELP4_ENST00000379163.5_Missense_Mutation_p.K284N Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 283 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) GCCTTACCAAGTTCCTCTATG 0.433000 48 63 2.17126e-26 3.39119e-26 0.870114 1 0 MYO7A 4647 broad.mit.edu 37 11 76912616 76912616 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:76912616G>T ENST00000409709.3 + 36 5248 c.4976G>T c.(4975-4977)cGt>cTt p.R1659L MYO7A_ENST00000458637.2_Missense_Mutation_p.R1621L|MYO7A_ENST00000409619.2_Missense_Mutation_p.R1610L NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1659 SH3. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACCAAGCAGCGTGGGGACTTC 0.612000 23 48 9.57634e-11 1.17952e-10 0.654019 1 0 TSNARE1 203062 broad.mit.edu 37 8 143399972 143399972 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:143399972T>C ENST00000519651.1 - 5 363 c.260A>G c.(259-261)aAc>aGc p.N87S TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Missense_Mutation_p.N306S|TSNARE1_ENST00000307180.3_Missense_Mutation_p.N306S|TSNARE1_ENST00000520166.1_Missense_Mutation_p.N306S Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 306 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AATGGTCTTGTTGGTCTCCTG 0.667000 21 139 0 0 0.667858 0 0 CES1 1066 broad.mit.edu 37 16 55862853 55862853 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:55862853G>A ENST00000422046.2 - 2 364 c.83C>T c.(82-84)aCc>aTc p.T28I CES1_ENST00000360526.3_Missense_Mutation_p.T29I|CES1_ENST00000361503.4_Missense_Mutation_p.T28I P23141 EST1_HUMAN carboxylesterase 1 28 DT -> AK (in Ref. 14; AA sequence).|TV -> DT (in Ref. 15; AA sequence). response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GCCATGCACGGTGTCCACCAC 0.547000 4 13 0 0 0.184627 0 0 NEFM 4741 broad.mit.edu 37 8 24774808 24774808 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:24774808G>T ENST00000221166.5 + 3 2222 c.1440G>T c.(1438-1440)ttG>ttT p.L480F NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.L104F|NEFM_ENST00000437366.2_Missense_Mutation_p.L480F|NEFM_ENST00000518131.1_Missense_Mutation_p.L480F P07197 NFM_HUMAN neurofilament, medium polypeptide 480 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CAGAGGAATTGGCCGTTTCCA 0.458000 7 23 3.09899e-07 3.49068e-07 0.307466 1 0 HACE1 57531 broad.mit.edu 37 6 105231991 105231991 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:105231991C>T ENST00000262903.4 - 14 1812 c.1536G>A c.(1534-1536)atG>atA p.M512I HACE1_ENST00000369125.2_Missense_Mutation_p.M512I NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 512 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TGAATCTTGACATCAACTCAG 0.269000 25 49 0 0 0.804634 0 0 OR11L1 391189 broad.mit.edu 37 1 248004784 248004784 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:248004784C>A ENST00000355784.2 - 1 470 c.415G>T c.(415-417)Ggg>Tgg p.G139W NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCACAGAGCCCACGATGCATG 0.597000 43 42 5.44703e-19 7.84061e-19 0.847076 1 0 MEST 4232 broad.mit.edu 37 7 130140723 130140723 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:130140723C>T ENST00000223215.4 + 9 962 c.741C>T c.(739-741)gtC>gtT p.V247V MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Silent_p.V247V|MEST_ENST00000416162.2_Intron|MEST_ENST00000393187.1_Silent_p.V238V|MEST_ENST00000378576.4_Intron|MEST_ENST00000341441.4_Silent_p.V238V NM_001253900.1|NM_002402.3 NP_001240829.1|NP_002393.2 Q5EB52 MEST_HUMAN mesoderm specific transcript 247 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2) 12 Melanoma(18;0.0435) GGAACTTAGTCATTGACAGGT 0.502000 21 52 0 0 0.729181 0 0 OR11H1 81061 broad.mit.edu 37 22 16449697 16449697 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr22:16449697C>A ENST00000252835.4 - 1 108 c.108G>T c.(106-108)tgG>tgT p.W36C NM_001005239.1 NP_001005239.1 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, member 1 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1) 11 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) TCTGAATTGTCCACTCACAAG 0.438000 20 139 1.4065e-29 2.32244e-29 0.788014 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455599 187455599 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:187455599G>T ENST00000307161.5 - 2 498 c.297C>A c.(295-297)caC>caA p.H99Q RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 99 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) TGACTTGGCAGTGCAGATAGC 0.552000 28 32 8.16721e-17 1.13257e-16 0.750413 1 0 MGAM 8972 broad.mit.edu 37 7 141740554 141740554 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:141740554C>A ENST00000475668.2 + 21 2460 c.2406C>A c.(2404-2406)gtC>gtA p.V802V MGAM_ENST00000549489.2_Silent_p.V802V O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 802 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) AGCAAAAAGTCGAGATGGAAC 0.468000 13 33 1.49906e-05 1.62801e-05 0.457914 1 0 TRPC4 7223 broad.mit.edu 37 13 38237637 38237637 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:38237637T>A ENST00000379705.3 - 6 2461 c.1604A>T c.(1603-1605)aAt>aTt p.N535I TRPC4_ENST00000338947.5_Missense_Mutation_p.N362I|TRPC4_ENST00000358477.2_Missense_Mutation_p.N535I|TRPC4_ENST00000447043.1_Missense_Mutation_p.N535I|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.N362I|TRPC4_ENST00000379681.3_Missense_Mutation_p.N535I|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.N535I|TRPC4_ENST00000379673.2_Missense_Mutation_p.N535I Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 535 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GTACAATTGATTTAGGCCATT 0.373000 18 25 0 0 0.557998 0 0 SORL1 6653 broad.mit.edu 37 11 121428094 121428094 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:121428094G>T ENST00000260197.7 + 19 2772 c.2643G>T c.(2641-2643)ctG>ctT p.L881L NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 881 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CCAGGGCTCTGGTCCTCGTGC 0.507000 36 52 6.4771e-29 1.05798e-28 0.853193 1 0 PPP1R13L 10848 broad.mit.edu 37 19 45895537 45895537 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:45895537T>A ENST00000418234.2 - 8 1494 c.1416A>T c.(1414-1416)ccA>ccT p.P472P PPP1R13L_ENST00000360957.5_Silent_p.P472P NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 472 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCTCCAGCACTGGTGTCAGCA 0.667000 16 31 0 0 0.557998 0 0 GBE1 2632 broad.mit.edu 37 3 81640187 81640187 + Splice_Site SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:81640187C>A ENST00000429644.2 - 9 1880 c.e9+1 GBE1_ENST00000489715.1_Splice_Site NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) TATGGCTTTACCTCAGCTATT 0.378000 Glycogen Storage Disease, type IV 7 28 1.12685e-05 1.2304e-05 0.307466 1 0 ADNP 23394 broad.mit.edu 37 20 49510039 49510039 + Silent SNP C C A rs139951165 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:49510039C>A ENST00000396029.3 - 5 1779 c.1212G>T c.(1210-1212)tcG>tcT p.S404S ADNP_ENST00000371602.4_Silent_p.S404S|ADNP_ENST00000396032.3_Silent_p.S404S|ADNP_ENST00000349014.3_Silent_p.S404S NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 404 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S404S(1) NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 TTAACTGGCCCGATGAGAGAG 0.562000 18 107 2.37509e-13 3.07544e-13 0.592651 1 0 MCOLN2 255231 broad.mit.edu 37 1 85422123 85422123 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:85422123C>A ENST00000370608.3 - 4 623 c.556G>T c.(556-558)Gtt>Ttt p.V186F MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.V158F NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 186 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) CCGAGCTCAACGTCGTTGTCA 0.393000 34 96 4.32679e-17 6.02767e-17 0.827153 1 0 WBSCR17 64409 broad.mit.edu 37 7 70853241 70853241 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:70853241C>A ENST00000333538.5 + 3 1077 c.443C>A c.(442-444)tCc>tAc p.S148Y WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 148 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CTCAAGTACTCCAAGGACCTG 0.527000 21 58 2.41591e-17 3.38116e-17 0.681144 1 0 TMEM175 84286 broad.mit.edu 37 4 952220 952220 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:952220A>C ENST00000264771.4 + 11 1636 c.1451A>C c.(1450-1452)cAc>cCc p.H484P TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P|TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 484 integral to membrane p.H484P(1) NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGGCCCGAACACCCCCCGCCA 0.736000 9 17 0 0 0.500413 0 0 CHD4 1108 broad.mit.edu 37 12 6697584 6697584 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:6697584C>A ENST00000309577.6 - 23 3508 c.3345G>T c.(3343-3345)ccG>ccT p.P1115P CHD4_ENST00000357008.2_Silent_p.P1115P|CHD4_ENST00000544484.1_Silent_p.P1112P|CHD4_ENST00000544040.1_Silent_p.P1108P Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1115 Helicase C-terminal. 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 GCTGAGCACCCGGTGCTAATA 0.448000 18 91 9.57634e-11 1.17952e-10 0.654019 1 0 TBC1D28 254272 broad.mit.edu 37 17 18541988 18541988 + Silent SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:18541988G>C ENST00000345096.4 - 6 924 c.225C>G c.(223-225)acC>acG p.T75T TBC1D28_ENST00000405044.1_Silent_p.T75T Q2M2D7 TBC28_HUMAN TBC1 domain family, member 28 75 intracellular Rab GTPase activator activity breast(1)|large_intestine(5)|lung(2)|ovary(1) 9 GCCACTTGTTGGTACGTTTAC 0.537000 44 59 0 0 0.870114 0 0 MIR487A 619555 broad.mit.edu 37 14 101518838 101518838 + RNA SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:101518838C>A ENST00000384827.1 + 0 56 NR_030162.1 ACGAATCATACAGGGACATCC 0.527000 26 8 3.73988e-18 5.32012e-18 0.706142 1 0 BCHE 590 broad.mit.edu 37 3 165547891 165547891 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:165547891C>A ENST00000264381.3 - 2 1097 c.931G>T c.(931-933)Ggg>Tgg p.G311W BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 311 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AAAGGAGTCCCATAGGGGACA 0.393000 17 58 8.10497e-08 9.31995e-08 0.592651 1 0 KRT77 374454 broad.mit.edu 37 12 53096729 53096729 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:53096729C>T ENST00000341809.3 - 1 518 c.490G>A c.(490-492)Gag>Aag p.E164K KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 164 Coil 1A.|Rod. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 TGCTCCCGCTCCTGGGTCTTG 0.532000 53 141 0 0 0.870114 0 0 MYLK3 91807 broad.mit.edu 37 16 46771658 46771658 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:46771658G>A ENST00000394809.4 - 3 1081 c.966C>T c.(964-966)gcC>gcT p.A322A MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 322 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) GGGTTGCCCTGGCCTGGGCTG 0.677000 26 38 0 0 0.760397 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478672 14478672 + RNA SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:14478672G>T ENST00000581457.1 - 0 1236 NR_024076.1 TTTTTTTACAGATATAAACAG 0.418000 25 13 1.85244e-09 2.19683e-09 0.654019 1 0 CARD14 79092 broad.mit.edu 37 17 78162310 78162310 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:78162310G>T ENST00000573882.1 + 7 1346 c.810G>T c.(808-810)gaG>gaT p.E270D CARD14_ENST00000392434.2_Missense_Mutation_p.E33D|CARD14_ENST00000344227.2_Missense_Mutation_p.E270D|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.E270D Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 270 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TGAAGGAGGAGAATGAGAAAC 0.622000 29 62 5.04308e-16 6.88312e-16 0.819951 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299863 125299863 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:125299863C>A ENST00000538699.1 - 2 125 c.45G>T c.(43-45)gcG>gcT p.A15A DCAF12L2_ENST00000360028.2_Silent_p.A15A NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 15 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CCGCCTCGACCGCGGGCGCTT 0.746000 5 15 3.59834e-05 3.87316e-05 0.217242 1 0 EP400 57634 broad.mit.edu 37 12 132491379 132491379 + Silent SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:132491379A>T ENST00000333577.4 + 16 3478 c.3369A>T c.(3367-3369)acA>acT p.T1123T EP400_ENST00000332482.4_Silent_p.T1050T|EP400_ENST00000389561.2_Silent_p.T1087T|EP400_ENST00000389562.2_Silent_p.T1086T|EP400_ENST00000330386.6_Silent_p.T1087T Q96L91 EP400_HUMAN E1A binding protein p400 1123 Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGGGTAAAACAGTGCAGATCA 0.428000 48 40 0 0 0.870114 0 0 BNIP2 663 broad.mit.edu 37 15 59971865 59971865 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:59971865A>G ENST00000267859.3 - 4 677 c.584T>C c.(583-585)tTg>tCg p.L195S BNIP2_ENST00000415213.2_Missense_Mutation_p.L136S|BNIP2_ENST00000607373.1_Missense_Mutation_p.L74S Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 74 CRAL-TRIO. anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm calcium ion binding|GTPase activator activity|protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 ACTTTCATCCAAATCATCTGA 0.393000 11 20 0 0 0.457914 0 0 PROL1 58503 broad.mit.edu 37 4 71275125 71275125 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:71275125G>C ENST00000399575.2 + 3 254 c.80G>C c.(79-81)aGa>aCa p.R27T PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 27 regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TTCTCCAGAAGACCATATCTA 0.423000 20 28 0 0 0.624587 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788043 140788043 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:140788043C>A ENST00000520790.1 + 1 274 c.274C>A c.(274-276)Cgt>Agt p.R92S PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGAATAGACCGTGAGCAAAT 0.483000 70 23 5.02048e-33 8.40445e-33 0.870114 1 0 ATG9B 285973 broad.mit.edu 37 7 150715481 150715481 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:150715481T>C ENST00000605938.1 - 7 1847 c.1772A>G c.(1771-1773)cAg>cGg p.Q591R ATG9B_ENST00000377974.2_Missense_Mutation_p.Q591R|ATG9B_ENST00000444312.1_Missense_Mutation_p.Q77R|ATG9B_ENST00000494791.1_5'UTR NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 591 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGGGCTGTCTGCAGCAGGAG 0.692000 OREG0018444 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 28 0 0 0.539581 0 0 CENPJ 55835 broad.mit.edu 37 13 25466834 25466834 + Nonsense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:25466834T>A ENST00000381884.4 - 10 3348 c.3163A>T c.(3163-3165)Aga>Tga p.R1055* CENPJ_ENST00000545981.1_Nonsense_Mutation_p.R1055* NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1055 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GCTTCTGCTCTCTTCCAGGCA 0.537000 49 68 0 0 0.870114 0 0 CENPF 1063 broad.mit.edu 37 1 214802428 214802428 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:214802428G>A ENST00000366955.3 + 8 1276 c.1108G>A c.(1108-1110)Gat>Aat p.D370N NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 370 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ATTGACGGAAGATTTGAGTTG 0.303000 18 50 0 0 0.639603 0 0 ADCY8 114 broad.mit.edu 37 8 131796020 131796020 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:131796020G>A ENST00000286355.5 - 17 5277 c.3185C>T c.(3184-3186)gCt>gTt p.A1062V ADCY8_ENST00000377928.3_Missense_Mutation_p.A931V NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1062 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTCAGCCAGAGCACACAAATG 0.448000 HNSCC(32;0.087) 17 123 0 0 0.592651 0 0 TRIM71 131405 broad.mit.edu 37 3 32933250 32933250 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:32933250G>T ENST00000383763.4 + 4 2617 c.2554G>T c.(2554-2556)Gac>Tac p.D852Y NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 852 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CATCACCCCCGACGGAATGAT 0.532000 70 106 2.26018e-36 3.8911e-36 0.870114 1 0 NEFM 4741 broad.mit.edu 37 8 24774809 24774809 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:24774809G>T ENST00000221166.5 + 3 2223 c.1441G>T c.(1441-1443)Gcc>Tcc p.A481S NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Missense_Mutation_p.A105S|NEFM_ENST00000437366.2_Missense_Mutation_p.A481S|NEFM_ENST00000518131.1_Missense_Mutation_p.A481S P07197 NFM_HUMAN neurofilament, medium polypeptide 481 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGAGGAATTGGCCGTTTCCAT 0.458000 7 23 3.09899e-07 3.49068e-07 0.307466 1 0 IGHMBP2 3508 broad.mit.edu 37 11 68707074 68707074 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:68707074G>T ENST00000255078.3 + 15 2968 c.2857G>T c.(2857-2859)Ggc>Tgc p.G953C NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 953 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCTCTATGCCGGCAGCGGGAC 0.632000 12 29 9.05144e-12 1.14513e-11 0.435327 1 0 KIF1A 547 broad.mit.edu 37 2 241724474 241724474 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:241724474G>T ENST00000498729.2 - 7 898 c.652C>A c.(652-654)Cac>Aac p.H218N KIF1A_ENST00000320389.7_Missense_Mutation_p.H218N NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 218 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AAGACGGCGTGGGAGCGACTG 0.607000 64 199 2.36429e-26 3.68319e-26 0.870114 1 0 ASCL3 56676 broad.mit.edu 37 11 8959439 8959439 + Nonsense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:8959439G>T ENST00000325884.1 - 2 329 c.270C>A c.(268-270)taC>taA p.Y90* ASCL3_ENST00000531618.1_Nonsense_Mutation_p.Y90* NM_020646.1 NP_065697.1 Q9NQ33 ASCL3_HUMAN achaete-scute family bHLH transcription factor 3 89 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding p.Y90*(1) breast(1)|large_intestine(2)|lung(5)|stomach(1) 9 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) AGGCTGGCCCGTAGGAGTACT 0.542000 12 67 6.72482e-11 8.33383e-11 0.479597 1 0 LRGUK 136332 broad.mit.edu 37 7 133876495 133876495 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:133876495G>T ENST00000285928.2 + 12 1492 c.1423G>T c.(1423-1425)Gtg>Ttg p.V475L NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 475 Guanylate kinase-like. ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 TGATGAAATGGTGAACATGGT 0.343000 19 39 1.22574e-08 1.42571e-08 0.624587 1 0 TTN 7273 broad.mit.edu 37 2 179595843 179595843 + Missense_Mutation SNP T T G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:179595843T>G ENST00000589042.1 - 60 17773 c.17549A>C c.(17548-17550)aAg>aCg p.K5850T TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K4606T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K5533T|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5533 Ig-like 39. 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) TGTAATCTCCTTAGTCCCTGA 0.413000 26 63 0 0 0.717897 0 0 OR4A5 81318 broad.mit.edu 37 11 51412116 51412116 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:51412116C>G ENST00000319760.6 - 1 332 c.280G>C c.(280-282)Ggt>Cgt p.G94R NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CCCATGCAACCTTGGAAGGAA 0.453000 20 65 0 0 0.654019 0 0 GABRA4 2557 broad.mit.edu 37 4 46973237 46973237 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:46973237A>C ENST00000264318.3 - 7 1719 c.737T>G c.(736-738)aTg>aGg p.M246R 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 4 246 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTAAACCGTCATAACAATATA 0.368000 17 82 0 0 0.608945 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33684113 33684113 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:33684113C>G ENST00000504830.1 - 4 1017 c.682G>C c.(682-684)Gag>Cag p.E228Q ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E228Q NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 228 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TTGTGCCTCTCCCACTTCTCC 0.468000 HNSCC(64;0.19) 7 81 0 0 0.335167 0 0 ZNF626 199777 broad.mit.edu 37 19 20829185 20829185 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:20829185G>T ENST00000601440.1 - 2 176 c.30C>A c.(28-30)gcC>gcA p.A10A ZNF626_ENST00000291750.6_Silent_p.A10A|CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 10 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 AGAATTCTATGGCCACATCTC 0.418000 77 116 3.01496e-42 5.28053e-42 0.870114 1 0 SLC16A5 9121 broad.mit.edu 37 17 73096237 73096237 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:73096237G>T ENST00000450736.2 + 4 894 c.479G>T c.(478-480)cGc>cTc p.R160L SLC16A5_ENST00000329783.4_Missense_Mutation_p.R160L|SLC16A5_ENST00000538213.2_Missense_Mutation_p.R200L|SLC16A5_ENST00000580123.1_Missense_Mutation_p.R160L O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 160 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) CTGCTCTCCCGCTACCTTCTG 0.652000 18 34 0.00074312 0.000779119 0.539581 1 0 PILRB 29990 broad.mit.edu 37 7 99956460 99956460 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:99956460G>C ENST00000310771.4 + 16 2708 c.212G>C c.(211-213)tGg>tCg p.W71S PILRB_ENST00000452089.1_Missense_Mutation_p.W71S|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000444073.1_Missense_Mutation_p.W71S|PILRB_ENST00000444874.1_Intron Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 71 Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity p.W71*(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGAATATCCTGGAGACGGGGC 0.537000 58 59 0 0 0.870114 0 0 ZNF329 79673 broad.mit.edu 37 19 58640001 58640001 + Silent SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:58640001T>C ENST00000598312.1 - 4 1103 c.870A>G c.(868-870)ctA>ctG p.L290L ZNF329_ENST00000358067.4_Silent_p.L290L NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TTCCACACTCTAGGCATTCAT 0.428000 37 92 0 0 0.870114 0 0 OR52E2 119678 broad.mit.edu 37 11 5080175 5080175 + Missense_Mutation SNP C C A rs141087990 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:5080175C>A ENST00000321522.2 - 1 682 c.683G>T c.(682-684)cGt>cTt p.R228L NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTAGGAAGACGGAAAACAGC 0.398000 26 26 7.01153e-11 8.67141e-11 0.717897 1 0 ROR2 4920 broad.mit.edu 37 9 94486482 94486482 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:94486482C>T ENST00000375708.3 - 9 2492 c.2294G>A c.(2293-2295)aGc>aAc p.S765N ROR2_ENST00000375715.1_Missense_Mutation_p.S625N|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 765 Ser/Thr-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CGTGGTGTTGCTGGCCCCCGA 0.672000 29 44 0 0 0.740014 0 0 PLXNA4 91584 broad.mit.edu 37 7 131887442 131887442 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:131887442C>A ENST00000359827.3 - 12 3511 c.2549G>T c.(2548-2550)gGt>gTt p.G850V PLXNA4_ENST00000321063.4_Missense_Mutation_p.G850V Q9HCM2 PLXA4_HUMAN plexin A4 850 PSI 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCTTTTGGCACCAGACAGCTC 0.662000 18 67 9.95505e-16 1.35568e-15 0.624587 1 0 FAT4 79633 broad.mit.edu 37 4 126389779 126389779 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:126389779G>A ENST00000394329.3 + 11 12025 c.12012G>A c.(12010-12012)acG>acA p.T4004T FAT4_ENST00000335110.5_Silent_p.T2267T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4004 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T4004T(1)|p.T3969T(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AATTTGCCACGATTAAAAGTC 0.398000 10 35 0 0 0.387290 0 0 INSR 3643 broad.mit.edu 37 19 7125393 7125393 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:7125393G>A ENST00000341500.5 - 16 3162 c.3123C>T c.(3121-3123)cgC>cgT p.R1041R INSR_ENST00000302850.5_Silent_p.R1053R NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1053 Protein kinase. 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) TCACCGCCACGCGGGTCTCTG 0.597000 42 85 0 0 0.870114 0 0 DNAH11 8701 broad.mit.edu 37 7 21629011 21629011 + Missense_Mutation SNP T T G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:21629011T>G ENST00000328843.6 + 12 2190 c.2159T>G c.(2158-2160)tTt>tGt p.F720C DNAH11_ENST00000409508.3_Missense_Mutation_p.F720C Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 720 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGTGTCAATTTTGACCCAAAG 0.299000 Kartagener syndrome 4 89 0 0 0.217242 0 0 TTC29 83894 broad.mit.edu 37 4 147824714 147824714 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:147824714G>T ENST00000513335.1 - 7 845 c.646C>A c.(646-648)Ctt>Att p.L216I TTC29_ENST00000398886.4_Missense_Mutation_p.L216I|TTC29_ENST00000325106.4_Missense_Mutation_p.L190I Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 190 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TCGTAGAGAAGACCCATATGC 0.468000 12 16 4.75885e-15 6.39437e-15 0.520397 1 0 BCL9L 283149 broad.mit.edu 37 11 118772168 118772168 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:118772168C>A ENST00000334801.3 - 6 3248 c.2284G>T c.(2284-2286)Gac>Tac p.D762Y BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 762 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) ATGGGTGGGTCCACCTCCCTC 0.612000 9 24 2.17888e-05 2.36207e-05 0.335167 1 0 ASIC5 51802 broad.mit.edu 37 4 156751016 156751016 + Nonsense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:156751016C>A ENST00000537611.2 - 10 1556 c.1510G>T c.(1510-1512)Gag>Tag p.E504* NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 504 integral to membrane|plasma membrane CATTAACACTCCTCTATCCTA 0.338000 3 15 6.4e-05 6.82817e-05 0.115264 1 0 ZNF287 57336 broad.mit.edu 37 17 16455877 16455877 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:16455877G>C ENST00000395824.1 - 6 2196 c.1579C>G c.(1579-1581)Caa>Gaa p.Q527E ZNF287_ENST00000395825.3_Missense_Mutation_p.Q527E Q9HBT7 ZN287_HUMAN zinc finger protein 287 520 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TGTATTTTTTGATGCTGAAGA 0.353000 35 139 0 0 0.853193 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962506 73962506 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:73962506T>A ENST00000373468.1 - 3 2537 c.1886A>T c.(1885-1887)aAa>aTa p.K629I KIAA2022_ENST00000055682.5_Missense_Mutation_p.K629I Q5QGS0 K2022_HUMAN KIAA2022 629 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AAGTTTAGATTTTCGTTTGCG 0.423000 4 24 0 0 0.150653 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004309 75004309 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:75004309C>A ENST00000373359.2 - 1 770 c.578G>T c.(577-579)cGa>cTa p.R193L NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 193 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTCTCTTGCTCGGTTCCCATT 0.522000 14 46 1.02788e-11 1.29501e-11 0.520397 1 0 GABRB3 2562 broad.mit.edu 37 15 26793027 26793027 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:26793027C>T ENST00000541819.2 - 10 1605 c.1503G>A c.(1501-1503)gtG>gtA p.V501V GABRB3_ENST00000311550.5_Silent_p.V445V|GABRB3_ENST00000545868.1_Silent_p.V360V|GABRB3_ENST00000299267.4_Silent_p.V445V|GABRB3_ENST00000400188.3_Silent_p.V374V P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 445 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CTATGGCATTCACATCGGTTA 0.448000 23 56 0 0 0.681144 0 0 BAI3 577 broad.mit.edu 37 6 69728376 69728376 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:69728376A>G ENST00000370598.1 + 13 2913 c.2092A>G c.(2092-2094)Atg>Gtg p.M698V NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 698 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TTCATACTTAATGACTGGAAA 0.318000 26 29 0 0 0.760397 0 0 SCN1A 6323 broad.mit.edu 37 2 166866254 166866254 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:166866254G>T ENST00000423058.2 - 20 3994 c.3977C>A c.(3976-3978)gCc>gAc p.A1326D AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1298D|SCN1A_ENST00000303395.4_Missense_Mutation_p.A1326D|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1315D NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1326 A -> P (in SMEI; dbSNP:rs121918803). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCGAGATAAGGCTCTTAGAGG 0.363000 18 43 2.4624e-09 2.9088e-09 0.575678 1 0 SOX6 55553 broad.mit.edu 37 11 16071463 16071463 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:16071463G>T ENST00000352083.6 - 11 1350 c.1273C>A c.(1273-1275)Ctg>Atg p.L425M SOX6_ENST00000396356.3_Missense_Mutation_p.L425M|SOX6_ENST00000528252.1_Missense_Mutation_p.L384M|SOX6_ENST00000528429.1_Missense_Mutation_p.L425M|SOX6_ENST00000527619.1_Missense_Mutation_p.L387M|SOX6_ENST00000316399.6_Missense_Mutation_p.L425M P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 425 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GAGAGATTCAGAGGCTGTGCT 0.443000 5 270 0.0381472 0.0388525 0.278610 1 0 HELLS 3070 broad.mit.edu 37 10 96333866 96333866 + Silent SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:96333866A>G ENST00000348459.5 + 8 732 c.627A>G c.(625-627)ccA>ccG p.P209P HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Silent_p.P209P|HELLS_ENST00000394045.1_Silent_p.P209P|HELLS_ENST00000394044.1_Silent_p.P209P|HELLS_ENST00000394036.1_3'UTR NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 209 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) ATGGTCAGCCAGTACCTTTTC 0.378000 58 92 0 0 0.870114 0 0 TNIK 23043 broad.mit.edu 37 3 170811640 170811640 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:170811640C>T ENST00000436636.2 - 23 3053 c.2709G>A c.(2707-2709)ttG>ttA p.L903L TNIK_ENST00000488470.1_Silent_p.L848L|TNIK_ENST00000470834.1_Silent_p.L866L|TNIK_ENST00000475336.1_Silent_p.L811L|TNIK_ENST00000460047.1_Silent_p.L840L|TNIK_ENST00000538048.1_Silent_p.L855L|TNIK_ENST00000369326.5_Silent_p.L881L|TNIK_ENST00000357327.5_Silent_p.L874L|TNIK_ENST00000341852.6_Silent_p.L819L|TNIK_ENST00000284483.8_Silent_p.L895L NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 903 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CTCTAATCATCAAGGTTCCTT 0.453000 64 109 0 0 0.870114 0 0 RASD2 23551 broad.mit.edu 37 22 35947909 35947909 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr22:35947909G>C ENST00000216127.4 + 3 1273 c.631G>C c.(631-633)Gcc>Ccc p.A211P NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 211 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 GTACGGTGACGCCTTCCACCC 0.632000 23 24 0 0 0.779181 0 0 POTEG 404785 broad.mit.edu 37 14 19573144 19573144 + Splice_Site SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:19573144G>T ENST00000409832.3 + 8 1294 c.1242_splice c.e8+1 p.K414_splice NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 414 p.K414N(1)|p.K414K(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GTGATAGAAAGGTATACTTTT 0.318000 16 75 1.96292e-10 2.38862e-10 0.592651 1 0 TMPRSS13 84000 broad.mit.edu 37 11 117789465 117789465 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:117789465G>C ENST00000528626.1 - 2 183 c.110C>G c.(109-111)gCc>gGc p.A37G TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A37G|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A37G NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 37 12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) AGATGCCTGGGCTGGAGATGC 0.632000 3 70 0 0 0.115264 0 0 LRRC7 57554 broad.mit.edu 37 1 70460311 70460311 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:70460311T>A ENST00000310961.5 + 12 1318 c.900T>A c.(898-900)atT>atA p.I300I LRRC7_ENST00000035383.5_Silent_p.I295I|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 295 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CCAATACAATTGGAAAGTAAG 0.313000 25 82 0 0 0.760397 0 0 PRG4 10216 broad.mit.edu 37 1 186276694 186276694 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:186276694G>A ENST00000445192.2 + 7 1888 c.1843G>A c.(1843-1845)Gag>Aag p.E615K PRG4_ENST00000367483.4_Missense_Mutation_p.E574K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.E572K|PRG4_ENST00000367485.4_Missense_Mutation_p.E522K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 615 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 TACCCCCAAGGAGACTGCACC 0.657000 14 46 0 0 0.693898 0 0 SVEP1 79987 broad.mit.edu 37 9 113233662 113233662 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:113233662G>T ENST00000401783.2 - 16 3316 c.2980C>A c.(2980-2982)Ctg>Atg p.L994M SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.L994M|SVEP1_ENST00000374469.1_Missense_Mutation_p.L971M NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 994 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CGCCCTCTCAGCACTGAGCCT 0.433000 7 17 0.000157383 0.000166738 0.278610 1 0 KDR 3791 broad.mit.edu 37 4 55976687 55976687 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:55976687C>A ENST00000263923.4 - 9 1433 c.1138G>T c.(1138-1140)Ggg>Tgg p.G380W NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 380 Ig-like C2-type 4. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGTACATGCCCCGCTTTAATT 0.398000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 15 54 1.33834e-09 1.59338e-09 0.557998 1 0 OLFM3 118427 broad.mit.edu 37 1 102312423 102312423 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:102312423C>T ENST00000338858.5 - 1 106 c.107G>A c.(106-108)aGg>aAg p.R36K OLFM3_ENST00000359814.3_Missense_Mutation_p.R36K|OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000462354.1_Intron Q96PB7 NOE3_HUMAN olfactomedin 3 36 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGTCGACAGCCTCGTGGTGTT 0.493000 60 9 0 0 0.870114 0 0 TPBG 7162 broad.mit.edu 37 6 83075281 83075281 + Silent SNP G G T rs142377093 by1000genomes TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:83075281G>T ENST00000369750.3 + 2 1220 c.603G>T c.(601-603)gcG>gcT p.A201A TPBG_ENST00000543496.1_Silent_p.A201A|TPBG_ENST00000535040.1_Silent_p.A201A Q13641 TPBG_HUMAN trophoblast glycoprotein 201 cell adhesion integral to plasma membrane p.A201A(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) TGGTGGTGGCGGCCCTGCTGG 0.672000 74 15 3.76287e-55 6.86837e-55 0.870114 1 0 MNDA 4332 broad.mit.edu 37 1 158812104 158812104 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:158812104A>G ENST00000368141.4 + 2 422 c.161A>G c.(160-162)aAa>aGa p.K54R MNDA_ENST00000491210.1_3'UTR NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 54 DAPIN. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TTGATGGAAAAAAAGTTCCAA 0.338000 30 55 0 0 0.760397 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 6 44 0 0 0.307466 0 0 DEFB125 245938 broad.mit.edu 37 20 76731 76731 + Silent SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:76731T>C ENST00000382410.2 + 2 144 c.144T>C c.(142-144)ctT>ctC p.L48L NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 48 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) ACATACTTCTTTGTAGGAACA 0.358000 48 68 0 0 0.870114 0 0 H2BFWT 158983 broad.mit.edu 37 X 103268201 103268201 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:103268201C>A ENST00000217926.5 - 1 58 c.32G>T c.(31-33)cGg>cTg p.R11L NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 11 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 GGTTGTGGACCGGGGAAGCCG 0.607000 15 2 2.5808e-16 3.5464e-16 0.539581 1 0 B4GALNT4 338707 broad.mit.edu 37 11 379559 379559 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:379559G>T ENST00000329962.6 + 15 2346 c.2346G>T c.(2344-2346)ccG>ccT p.P782P NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 782 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCGGCTGCCGGGAGCCCGCG 0.751000 6 5 0.0381472 0.0388525 0.278610 1 0 LOR 4014 broad.mit.edu 37 1 153234351 153234351 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:153234351G>T ENST00000368742.3 + 2 983 c.926G>T c.(925-927)tGg>tTg p.W309L NM_000427.2 NP_000418.2 P23490 LORI_HUMAN loricrin 309 keratinization|peptide cross-linking cornified envelope|cytoplasm|insoluble fraction|nucleoplasm protein binding, bridging|structural constituent of cytoskeleton lung(2) 2 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCGCCTACCTGGCCGTCCAAA 0.657000 7 12 1.61879e-10 1.97382e-10 0.411799 1 0 ASXL3 80816 broad.mit.edu 37 18 31323276 31323276 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:31323276C>G ENST00000269197.5 + 12 3464 c.3464C>G c.(3463-3465)tCg>tGg p.S1155W NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1155 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 ATGGAAGGTTCGACTGGTGTC 0.498000 6 27 0 0 0.278610 0 0 FTSJ1 24140 broad.mit.edu 37 X 48339684 48339684 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:48339684A>T ENST00000019019.2 + 8 851 c.422A>T c.(421-423)aAc>aTc p.N141I FTSJ1_ENST00000456787.1_Missense_Mutation_p.N141I|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000348411.2_Missense_Mutation_p.N141I|FTSJ1_ENST00000396894.4_Missense_Mutation_p.N4I NM_177439.1 NP_803188.1 Q9UET6 RRMJ1_HUMAN FtsJ RNA methyltransferase homolog 1 (E. coli) 141 RNA methylation|rRNA processing methyltransferase activity|nucleic acid binding breast(1)|central_nervous_system(1)|lung(4)|skin(1) 7 CAGGCTCTGAACATTGCTACA 0.602000 7 15 0 0 0.248553 0 0 SAMD9 54809 broad.mit.edu 37 7 92731888 92731888 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:92731888A>T ENST00000379958.2 - 3 3792 c.3523T>A c.(3523-3525)Tat>Aat p.Y1175N NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1175 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) TTCACTTCATACTCTCTATCT 0.378000 80 182 0 0 0.870114 0 0 KDM4A 9682 broad.mit.edu 37 1 44133469 44133469 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:44133469G>T ENST00000372396.3 + 9 1076 c.942G>T c.(940-942)aaG>aaT p.K314N NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 314 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 ACATGGTGAAGATCTCCATGG 0.507000 58 48 2.59843e-28 4.19906e-28 0.870114 1 0 AGBL5 60509 broad.mit.edu 37 2 27280267 27280267 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:27280267G>T ENST00000360131.4 + 9 1791 c.1632G>T c.(1630-1632)ccG>ccT p.P544P AGBL5_ENST00000323064.8_Silent_p.P544P NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 544 Poly-Pro. protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCCCCGCCGGCTTTCCCCT 0.522000 146 67 2.10857e-94 3.93167e-94 0.870114 1 0 TSPAN2 10100 broad.mit.edu 37 1 115596034 115596034 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:115596034A>C ENST00000369516.2 - 7 597 c.566T>G c.(565-567)aTt>aGt p.I189S TSPAN2_ENST00000369514.2_Intron|TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369515.2_Missense_Mutation_p.I164S NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 189 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) GACAATTCCAATGAGCTGGAG 0.383000 20 36 0 0 0.693898 0 0 ZNF275 10838 broad.mit.edu 37 X 152613191 152613191 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:152613191G>C ENST00000421401.3 + 4 1225 c.1048G>C c.(1048-1050)Gca>Cca p.A350P ZNF275_ENST00000440091.1_Missense_Mutation_p.A380P|ZNF275_ENST00000370249.2_Missense_Mutation_p.A297P|ZNF275_ENST00000370251.2_Intron NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 266 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCGGCCCTACGCATGCGGCGA 0.667000 23 3 0 0 0.667858 0 0 ZNF827 152485 broad.mit.edu 37 4 146686250 146686250 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:146686250T>A ENST00000508784.1 - 13 3347 c.3120A>T c.(3118-3120)atA>atT p.I1040I ZNF827_ENST00000379448.4_Silent_p.I1040I|ZNF827_ENST00000513320.1_Silent_p.I690I Q17R98 ZN827_HUMAN zinc finger protein 827 1040 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TGATGAGGTGTATCTGCAGAT 0.502000 28 50 0 0 0.760397 0 0 CHD4 1108 broad.mit.edu 37 12 6702590 6702590 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:6702590G>A ENST00000309577.6 - 16 2669 c.2506C>T c.(2506-2508)Cgc>Tgc p.R836C CHD4_ENST00000357008.2_Missense_Mutation_p.R836C|CHD4_ENST00000544484.1_Missense_Mutation_p.R833C|CHD4_ENST00000544040.1_Missense_Mutation_p.R829C Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 836 Helicase ATP-binding. 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 ACCTTCATGCGGGAGGCCTTC 0.522000 41 134 0 0 0.870114 0 0 CACNA1F 778 broad.mit.edu 37 X 49084728 49084728 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:49084728G>T ENST00000376265.2 - 7 1060 c.999C>A c.(997-999)acC>acA p.T333T CACNA1F_ENST00000376251.1_Silent_p.T268T|CACNA1F_ENST00000323022.5_Silent_p.T333T NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 333 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) AGAGCACATCGGTCCAGCCTT 0.587000 16 60 4.14922e-12 5.29353e-12 0.500413 1 0 CTNNA2 1496 broad.mit.edu 37 2 80101428 80101428 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:80101428C>A ENST00000466387.1 + 10 1536 c.812C>A c.(811-813)aCg>aAg p.T271K CTNNA2_ENST00000402739.4_Missense_Mutation_p.T271K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T271K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T271K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T305K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T271K P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 271 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAGGGCCACACGGGCATCGGC 0.542000 20 58 2.98393e-07 3.37993e-07 0.639603 1 0 SYNRG 11276 broad.mit.edu 37 17 35930774 35930774 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:35930774C>A ENST00000339208.6 - 10 1449 c.1309G>T c.(1309-1311)Gct>Tct p.A437S SYNRG_ENST00000502449.2_Missense_Mutation_p.A359S|SYNRG_ENST00000394378.2_Missense_Mutation_p.A359S|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.A358S|SYNRG_ENST00000345615.4_Missense_Mutation_p.A359S|SYNRG_ENST00000346661.4_Missense_Mutation_p.A437S|SYNRG_ENST00000591288.1_Intron NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 437 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCACTAGAAGCCTGGGCTGCA 0.507000 16 48 5.35267e-07 6.01803e-07 0.557998 1 0 DST 667 broad.mit.edu 37 6 56393638 56393638 + Splice_Site SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:56393638C>G ENST00000370754.5 - 67 17587 c.e67+1 DST_ENST00000370788.2_Splice_Site|DST_ENST00000340834.4_Splice_Site|DST_ENST00000361203.3_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000312431.6_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000244364.6_Splice_Site Q03001 DYST_HUMAN dystonin cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGATATCTCACCTGTGGTTTG 0.318000 2 7 0 0 0.115264 0 0 MYRIP 25924 broad.mit.edu 37 3 40223855 40223855 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:40223855G>T ENST00000302541.6 + 9 1360 c.1018G>T c.(1018-1020)Gat>Tat p.D340Y MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.D153Y|MYRIP_ENST00000396217.3_Missense_Mutation_p.D251Y|MYRIP_ENST00000444716.1_Missense_Mutation_p.D340Y|MYRIP_ENST00000425621.1_Missense_Mutation_p.D340Y NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 340 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GGACAGGCTGGATGAAACAAG 0.532000 19 34 7.45023e-12 9.44526e-12 0.592651 1 0 CASS4 57091 broad.mit.edu 37 20 55027672 55027672 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:55027672C>A ENST00000371336.3 + 5 1641 c.1440C>A c.(1438-1440)caC>caA p.H480Q CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.H480Q NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 480 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ATGCAATCCACAGGTCCACTG 0.498000 40 24 8.94452e-30 1.48098e-29 0.870114 1 0 ZSWIM4 65249 broad.mit.edu 37 19 13941589 13941589 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:13941589C>T ENST00000254323.2 + 13 2884 c.2695C>T c.(2695-2697)Cgc>Tgc p.R899C ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R733C NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 899 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CTTAGGGGCACGCCGGGCCGC 0.697000 10 9 0 0 0.387290 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 4 35 0 0 0.217242 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421191 37421191 + Silent SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:37421191A>C ENST00000374660.1 + 4 465 c.366A>C c.(364-366)ctA>ctC p.L122L ANKRD30A_ENST00000361713.1_Silent_p.L122L|ANKRD30A_ENST00000602533.1_Silent_p.L122L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 178 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CACTTTTACTATCCATAACGA 0.289000 32 61 0 0 0.819951 0 0 OR12D3 81797 broad.mit.edu 37 6 29342769 29342769 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:29342769A>G ENST00000396806.3 - 1 299 c.296T>C c.(295-297)cTa>cCa p.L99P OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 GAAGAAGTGTAGCTGGGTGAT 0.473000 11 39 0 0 0.387290 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698527 111698527 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:111698527C>A ENST00000340433.2 + 1 801 c.571C>A c.(571-573)Ccc>Acc p.P191T NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 191 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 ACTAGCTGATCCCAACCAGGA 0.473000 85 47 1.13981e-37 1.96788e-37 0.870114 1 0 SPATA17 128153 broad.mit.edu 37 1 217856609 217856609 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:217856609C>A ENST00000366933.4 + 5 356 c.301C>A c.(301-303)Cga>Aga p.R101R NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 101 IQ 3. cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) GATTCAGAGACGATGGCGAGG 0.308000 50 113 8.52622e-23 1.29496e-22 0.870114 1 0 SLC27A3 11000 broad.mit.edu 37 1 153751292 153751292 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:153751292C>T ENST00000271857.2 + 7 2721 c.1961C>T c.(1960-1962)aCt>aTt p.T654I SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.T573I Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 573 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TTCTTCAACACTGGGGACCTG 0.552000 19 71 0 0 0.681144 0 0 COLQ 8292 broad.mit.edu 37 3 15507857 15507857 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:15507857G>A ENST00000383788.5 - 12 930 c.805C>T c.(805-807)Cca>Tca p.P269S COLQ_ENST00000603808.1_Missense_Mutation_p.P269S|COLQ_ENST00000383781.4_Missense_Mutation_p.P259S|COLQ_ENST00000435459.2_Missense_Mutation_p.P259S|COLQ_ENST00000383786.5_Missense_Mutation_p.P235S|COLQ_ENST00000383787.2_Missense_Mutation_p.P260S|COLQ_ENST00000383785.2_3'UTR NM_005677.3 NP_005668.2 Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 269 Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 CCTGCAGGTGGGGGGCCTGGG 0.607000 21 4 0 0 0.681144 0 0 ATP8A2 51761 broad.mit.edu 37 13 26112177 26112177 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:26112177G>T ENST00000381655.2 + 7 701 c.559G>T c.(559-561)Gat>Tat p.D187Y ATP8A2_ENST00000255283.8_Missense_Mutation_p.D147Y NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 147 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCTTCCAGCAGATGTGGTCCT 0.463000 22 33 3.17567e-06 3.5182e-06 0.729181 1 0 RAP1GDS1 5910 broad.mit.edu 37 4 99337948 99337948 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:99337948G>T ENST00000408927.3 + 8 929 c.816G>T c.(814-816)gaG>gaT p.E272D RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.E273D|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.E224D|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.E181D|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.E223D|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.E273D NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 272 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GTCTACTAGAGATTGTTCAGC 0.358000 T NUP98 T-ALL 23 35 3.6726e-16 5.03529e-16 0.667858 1 0 EFCAB13 124989 broad.mit.edu 37 17 45492281 45492281 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:45492281C>T ENST00000331493.2 + 23 2901 c.2490C>T c.(2488-2490)tcC>tcT p.S830S EFCAB13_ENST00000517484.1_Silent_p.S734S|CTD-2026D20.2_ENST00000523101.1_RNA NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 TCCAAAAGTCCAAGGGTAAGT 0.299000 5 21 0 0 0.248553 0 0 NTRK3 4916 broad.mit.edu 37 15 88690616 88690616 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:88690616C>A ENST00000394480.1 - 6 735 c.414G>T c.(412-414)cgG>cgT p.R138R NTRK3_ENST00000542733.2_Silent_p.R40R|NTRK3_ENST00000357724.2_Silent_p.R138R|NTRK3_ENST00000540489.2_Silent_p.R138R|NTRK3_ENST00000557856.1_Silent_p.R138R|NTRK3_ENST00000558676.1_Silent_p.R138R|NTRK3_ENST00000360948.2_Silent_p.R138R|NTRK3_ENST00000317501.3_Silent_p.R138R|NTRK3_ENST00000355254.2_Silent_p.R138R NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 138 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) GTGTGGTGAGCCGGTTACTTG 0.428000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 13 21 4.36969e-10 5.27497e-10 0.435327 1 0 ABLIM3 22885 broad.mit.edu 37 5 148620251 148620251 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:148620251G>T ENST00000506113.1 + 13 1699 c.1217G>T c.(1216-1218)gGc>gTc p.G406V ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.G406V|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000326685.7_Intron O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 406 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGAGAGTGGCCGGAGCTCT 0.562000 43 70 2.5401e-28 4.11577e-28 0.870114 1 0 GIF 2694 broad.mit.edu 37 11 59604781 59604781 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:59604781C>T ENST00000541311.1 - 6 896 c.662G>A c.(661-663)tGc>tAc p.C221Y GIF_ENST00000257248.2_Missense_Mutation_p.C246Y P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 246 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 AGTCTTCTTGCAGTTCCATTC 0.453000 17 49 0 0 0.557998 0 0 SOD2 6648 broad.mit.edu 37 6 160106032 160106032 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:160106032C>G ENST00000538183.1 - 4 537 c.377G>C c.(376-378)gGt>gCt p.G126A SOD2_ENST00000337404.4_Missense_Mutation_p.G87A|SOD2_ENST00000546087.1_Missense_Mutation_p.G80A|SOD2_ENST00000367055.4_Missense_Mutation_p.G126A|SOD2_ENST00000367054.2_Missense_Mutation_p.G87A|SOD2_ENST00000444946.2_Intron NM_000636.2 NP_000627.2 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial 126 age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure manganese ion binding|superoxide dismutase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) GTCAAAGGAACCAAAGTCACG 0.413000 10 13 0 0 0.361761 0 0 ZNF519 162655 broad.mit.edu 37 18 14106174 14106174 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:14106174C>T ENST00000590202.1 - 3 517 c.365G>A c.(364-366)aGa>aAa p.R122K ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 CTGAAATATTCTATATTCTTT 0.323000 7 55 0 0 0.335167 0 0 PDIK1L 149420 broad.mit.edu 37 1 26441054 26441054 + Silent SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:26441054C>T ENST00000374271.4 + 3 542 c.255C>T c.(253-255)tcC>tcT p.S85S PDIK1L_ENST00000374269.1_Silent_p.S85S NM_001243532.1|NM_001243533.1|NM_152835.4 NP_001230461.1|NP_001230462.1|NP_690048.1 Q8N165 PDK1L_HUMAN PDLIM1 interacting kinase 1 like 85 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) AAAAGATGTCCCACGGCTCTA 0.423000 29 35 0 0 0.804634 0 0 MYH8 4626 broad.mit.edu 37 17 10322315 10322315 + Silent SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:10322315A>T ENST00000403437.2 - 4 337 c.243T>A c.(241-243)ccT>ccA p.P81P CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 81 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GAGGGTTCATAGGGAAGACTT 0.438000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 84 9 0 0 0.870114 0 0 SLC12A1 6557 broad.mit.edu 37 15 48541779 48541779 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:48541779G>A ENST00000396577.3 + 14 1907 c.1692G>A c.(1690-1692)ctG>ctA p.L564L SLC12A1_ENST00000380993.3_Silent_p.L564L|SLC12A1_ENST00000558405.1_Silent_p.L564L NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 564 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CAGCGGAACTGAACACCATTG 0.428000 20 38 0 0 0.654019 0 0 IL2 3558 broad.mit.edu 37 4 123377359 123377359 + Splice_Site SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:123377359C>G ENST00000226730.4 - 2 432 c.e2-1 NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) TCTTGTAATTCTAAGAAAGTA 0.269000 T TNFRSF17 intestinal T-cell lymphoma 18 23 0 0 0.654019 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209001 140209001 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:140209001C>A ENST00000529310.1 + 1 1439 c.1325C>A c.(1324-1326)tCt>tAt p.S442Y PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S442Y|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAGCTTGTCTGTGGAGGTG 0.647000 42 61 2.74695e-27 4.38067e-27 0.870114 1 0 FLG 2312 broad.mit.edu 37 1 152275708 152275708 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:152275708C>A ENST00000368799.1 - 3 11689 c.11654G>T c.(11653-11655)aGa>aTa p.R3885I FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3885 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) ATGATGGTTTCTGGAAGCAGA 0.562000 Ichthyosis 28 130 2.14196e-07 2.44449e-07 0.717897 1 0 KEAP1 9817 broad.mit.edu 37 19 10610225 10610225 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:10610225T>C ENST00000171111.5 - 2 1032 c.485A>G c.(484-486)tAc>tGc p.Y162C KEAP1_ENST00000393623.2_Missense_Mutation_p.Y162C NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GTCGATCTGGTACATGACAGC 0.587000 37 59 0 0 0.870114 0 0 TSPAN16 26526 broad.mit.edu 37 19 11417406 11417406 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:11417406G>A ENST00000316737.1 + 5 727 c.577G>A c.(577-579)Gtg>Atg p.V193M CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.V168M|TSPAN16_ENST00000590327.1_Missense_Mutation_p.V193M NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 193 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 CGGACGCGATGTGTCTCCAAA 0.473000 7 22 0 0 0.335167 0 0 FBN1 2200 broad.mit.edu 37 15 48784735 48784735 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:48784735C>A ENST00000316623.5 - 24 3232 c.2777G>T c.(2776-2778)tGt>tTt p.C926F NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 926 EGF-like 14; calcium-binding. C -> R (in MFS; enhances proteolytic degradation). heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGTGTTAACACACAGGCCATT 0.348000 36 49 4.16155e-14 5.47049e-14 0.840704 1 0 MUC17 140453 broad.mit.edu 37 7 100676844 100676844 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:100676844G>A ENST00000306151.4 + 3 2211 c.2147G>A c.(2146-2148)aGc>aAc p.S716N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 716 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S716N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTTGACACCAGCACACCTGTG 0.493000 9 720 0 0 0.539581 0 0 LRP2 4036 broad.mit.edu 37 2 170092469 170092469 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:170092469A>T ENST00000263816.3 - 29 5086 c.4801T>A c.(4801-4803)Tgc>Agc p.C1601S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1601 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTTAAGCCGCAGGGCCAGAAG 0.517000 15 53 0 0 0.479597 0 0 WNK3 65267 broad.mit.edu 37 X 54319407 54319407 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chrX:54319407C>A ENST00000354646.2 - 10 2389 c.1951G>T c.(1951-1953)Gtt>Ttt p.V651F WNK3_ENST00000375159.2_Missense_Mutation_p.V651F|WNK3_ENST00000375169.3_Missense_Mutation_p.V651F NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 651 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ACAGGTAAAACAGTGGACTGA 0.408000 24 44 2.25844e-05 2.44395e-05 0.717897 1 0 IL1F10 84639 broad.mit.edu 37 2 113832822 113832822 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:113832822G>A ENST00000393197.2 + 4 761 c.340G>A c.(340-342)Gct>Act p.A114T IL1F10_ENST00000341010.2_Missense_Mutation_p.A114T|IL1F10_ENST00000337569.3_Missense_Mutation_p.A114T NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 114 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 CAGGCTTGAGGCTGCTGCCTG 0.592000 35 105 0 0 0.788014 0 0 RNF112 7732 broad.mit.edu 37 17 19316023 19316023 + Missense_Mutation SNP A A C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:19316023A>C ENST00000461366.1 + 3 523 c.308A>C c.(307-309)cAg>cCg p.Q103P RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 103 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 ATATGCAAGCAGAAGAGGGGC 0.647000 8 51 0 0 0.307466 0 0 TTN 7273 broad.mit.edu 37 2 179597723 179597723 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:179597723C>A ENST00000589042.1 - 55 16404 c.16180G>T c.(16180-16182)Ggc>Tgc p.G5394C TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4150C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G5077C|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5077 Ig-like 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTCTTTGCCATCCTTAAAC 0.473000 8 27 3.86212e-05 4.13506e-05 0.361761 1 0 OR2W3 343171 broad.mit.edu 37 1 248059469 248059469 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:248059469C>A ENST00000537741.1 + 3 838 c.581C>A c.(580-582)gCc>gAc p.A194D OR2W3_ENST00000360358.3_Missense_Mutation_p.A194D Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGCACTGTGGCCATCGAAGGC 0.602000 14 116 7.63091e-17 1.06063e-16 0.834066 1 0 MAP3K4 4216 broad.mit.edu 37 6 161455335 161455335 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:161455335C>G ENST00000392142.4 + 2 345 c.197C>G c.(196-198)tCt>tGt p.S66C MAP3K4_ENST00000366919.2_Missense_Mutation_p.S66C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S66C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S66C NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 66 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGTCCTGAATCTGATCTAGAA 0.433000 80 19 0 0 0.870114 0 0 GSDMC 56169 broad.mit.edu 37 8 130789753 130789753 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:130789753T>A ENST00000276708.4 - 2 962 c.81A>T c.(79-81)ctA>ctT p.L27L NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 27 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 TGGCACTCAATAGGTATTTGA 0.393000 80 169 0 0 0.870114 0 0 FMO2 2327 broad.mit.edu 37 1 171154856 171154856 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:171154856G>A ENST00000441535.1 + 2 121 c.4G>A c.(4-6)Gca>Aca p.A2T FMO2_ENST00000209929.7_Missense_Mutation_p.A2T|FMO2_ENST00000529935.1_Intron|RP1-45C12.1_ENST00000455124.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 2 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGAGCTGATGGCAAAGAAGGT 0.453000 34 121 0 0 0.834066 0 0 TBC1D28 254272 broad.mit.edu 37 17 18539789 18539789 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:18539789C>G ENST00000345096.4 - 9 1318 c.619G>C c.(619-621)Gtt>Ctt p.V207L TBC1D28_ENST00000405044.1_Missense_Mutation_p.V207L Q2M2D7 TBC28_HUMAN TBC1 domain family, member 28 207 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|large_intestine(5)|lung(2)|ovary(1) 9 GAAGTTGCAACACCCCCGAGA 0.537000 51 78 0 0 0.870114 0 0 MCC 4163 broad.mit.edu 37 5 112676389 112676389 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:112676389A>G ENST00000408903.3 - 3 869 c.454T>C c.(454-456)Tct>Cct p.S152P CTD-2201G3.1_ENST00000416046.2_RNA NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 0 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CTGGCACCAGAGTCGTATTCC 0.557000 10 22 0 0 0.411799 0 0 DUSP27 92235 broad.mit.edu 37 1 167095964 167095964 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:167095964C>A ENST00000361200.2 + 6 1762 c.1596C>A c.(1594-1596)aaC>aaA p.N532K DUSP27_ENST00000443333.1_Missense_Mutation_p.N532K|DUSP27_ENST00000271385.5_Missense_Mutation_p.N532K|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 532 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCTTCTACAACTTCTGCAGCA 0.542000 39 99 1.7489e-18 2.50552e-18 0.859065 1 0 SH3BP2 6452 broad.mit.edu 37 4 2829391 2829391 + Silent SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:2829391A>T ENST00000442312.2 + 7 839 c.660A>T c.(658-660)ggA>ggT p.G220G SH3BP2_ENST00000503393.2_Silent_p.G249G|SH3BP2_ENST00000452765.2_Silent_p.G192G|SH3BP2_ENST00000511747.1_Silent_p.G192G|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000435136.2_Silent_p.G192G|SH3BP2_ENST00000356331.5_Silent_p.G192G NM_001145855.1 NP_001139327.1 P78314 3BP2_HUMAN SH3-domain binding protein 2 192 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) CGGAGCCCGGAAGGCTTGAGG 0.682000 Cherubism 4 13 0 0 0.150653 0 0 AP1M2 10053 broad.mit.edu 37 19 10685704 10685704 + Splice_Site SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:10685704C>T ENST00000590923.1 - 10 1138 c.1053_splice c.e10-1 p.G352_splice AP1M2_ENST00000250244.6_Splice_Site_p.G350_splice Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 350 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CTCCTTGCCCCCCTGAGGGAA 0.612000 6 5 0 0 0.307466 0 0 MYO15A 51168 broad.mit.edu 37 17 18022664 18022664 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:18022664G>T ENST00000205890.5 + 2 888 c.550G>T c.(550-552)Ggg>Tgg p.G184W NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 184 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCTGCGGCCTGGGGGCCGGCT 0.706000 9 31 0.00829132 0.00855969 0.361761 1 0 XPO1 7514 broad.mit.edu 37 2 61753558 61753558 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:61753558C>A ENST00000401558.2 - 3 952 c.225G>T c.(223-225)acG>acT p.T75T XPO1_ENST00000406957.1_Silent_p.T75T|XPO1_ENST00000404992.2_Silent_p.T75T|XPO1_ENST00000481214.1_5'UTR NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 75 Importin N-terminal.|Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) TGCTTACTTTCGTATTCATAT 0.343000 Mis CLL 9 30 0.000978159 0.00102377 0.387290 1 0 ABCA4 24 broad.mit.edu 37 1 94502771 94502771 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:94502771C>A ENST00000370225.3 - 25 3829 c.3743G>T c.(3742-3744)aGa>aTa p.R1248I NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1248 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTCCAGCTCTCTGAAAAGGCT 0.478000 71 42 2.72187e-29 4.47006e-29 0.870114 1 0 KCND3 3752 broad.mit.edu 37 1 112525148 112525148 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:112525148G>T ENST00000369697.1 - 1 270 c.201C>A c.(199-201)ggC>ggA p.G67G KCND3_ENST00000315987.2_Silent_p.G67G|KCND3_ENST00000302127.4_Silent_p.G67G Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 67 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TCTCCGTGCTGCCCAGCAGGG 0.607000 48 7 3.07002e-29 5.02819e-29 0.870114 1 0 AP3D1 8943 broad.mit.edu 37 19 2117251 2117251 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:2117251T>A ENST00000355272.6 - 16 2035 c.1829A>T c.(1828-1830)aAg>aTg p.K610M AP3D1_ENST00000345016.5_Missense_Mutation_p.K610M|AP3D1_ENST00000356926.4_Missense_Mutation_p.K519M|AP3D1_ENST00000350812.6_Missense_Mutation_p.K441M NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 610 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 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) CTTCTGGGCCTTGGGGGCCAC 0.617000 15 15 0 0 0.520397 0 0 NUP160 23279 broad.mit.edu 37 11 47857248 47857248 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:47857248C>A ENST00000378460.2 - 7 1102 c.1056G>T c.(1054-1056)atG>atT p.M352I NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.M238I|NUP160_ENST00000530326.1_Missense_Mutation_p.M238I NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 352 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 GGTAGAGTCCCATGGTGGGGG 0.453000 52 117 4.32865e-36 7.41006e-36 0.870114 1 0 DSG4 147409 broad.mit.edu 37 18 28968453 28968453 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:28968453G>T ENST00000359747.4 + 4 369 c.340G>T c.(340-342)Gtg>Ttg p.V114L RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.V114L|RP11-534N16.1_ENST00000581452.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 114 Cadherin 1. 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) CATCACTTCAGTGGTAGACAG 0.368000 26 44 6.53348e-20 9.54045e-20 0.788014 1 0 LAMA5 3911 broad.mit.edu 37 20 60899535 60899535 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:60899535G>C ENST00000252999.3 - 42 5671 c.5605C>G c.(5605-5607)Cac>Gac p.H1869D NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1869 Laminin EGF-like 17. 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) CGGTCTGAGTGTCCATGGCAC 0.632000 13 26 0 0 0.500413 0 0 THBS1 7057 broad.mit.edu 37 15 39883424 39883424 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:39883424G>A ENST00000260356.5 + 15 2451 c.2286G>A c.(2284-2286)caG>caA p.Q762Q NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 762 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) ACCCAGCTCAGTATGACTATG 0.473000 51 70 0 0 0.870114 0 0 LOC653786 653786 broad.mit.edu 37 16 22587946 22587946 + RNA SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:22587946G>C ENST00000550753.1 + 0 2421 NR_003676.2 CTCTCCAGTCGTGGGGTCTTT 0.527000 19 48 0 0 0.769981 0 0 WDR64 128025 broad.mit.edu 37 1 241929585 241929585 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:241929585G>T ENST00000366552.2 + 15 2190 c.1983G>T c.(1981-1983)ttG>ttT p.L661F WDR64_ENST00000437684.2_Missense_Mutation_p.L661F NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 661 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) GATATAATTTGATAGCAGCTG 0.333000 20 91 7.68411e-24 1.18187e-23 0.729181 1 0 BAI1 575 broad.mit.edu 37 8 143560689 143560689 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:143560689G>T ENST00000517894.1 + 8 2461 c.1567G>T c.(1567-1569)Ggc>Tgc p.G523C BAI1_ENST00000323289.5_Missense_Mutation_p.G523C O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 523 TSP type-1 5. 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) CGCAGTGGATGGCAAGTGGCA 0.667000 45 13 3.31162e-33 5.55911e-33 0.870114 1 0 CHD4 1108 broad.mit.edu 37 12 6696924 6696924 + Silent SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:6696924G>C ENST00000309577.6 - 24 3820 c.3657C>G c.(3655-3657)ctC>ctG p.L1219L CHD4_ENST00000357008.2_Silent_p.L1219L|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544484.1_Silent_p.L1216L|CHD4_ENST00000544040.1_Silent_p.L1212L Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1219 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 TGCCAAATTTGAGGATATCAT 0.493000 29 102 0 0 0.788014 0 0 BCHE 590 broad.mit.edu 37 3 165547892 165547892 + Nonsense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:165547892A>T ENST00000264381.3 - 2 1096 c.930T>A c.(928-930)taT>taA p.Y310* BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 310 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AAGGAGTCCCATAGGGGACAA 0.393000 17 59 0 0 0.592651 0 0 NRXN1 9378 broad.mit.edu 37 2 50723170 50723170 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:50723170T>A ENST00000404971.1 - 16 4402 c.3063A>T c.(3061-3063)aaA>aaT p.K1021N NRXN1_ENST00000406859.3_Missense_Mutation_p.K981N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.K981N|NRXN1_ENST00000401710.1_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.K981N|NRXN1_ENST00000402717.3_Missense_Mutation_p.K973N|NRXN1_ENST00000405472.3_Missense_Mutation_p.K973N NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 981 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) CATTGAGAGGTTTATTTGAGC 0.418000 5 30 0 0 0.217242 0 0 STX2 2054 broad.mit.edu 37 12 131283099 131283099 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:131283099C>A ENST00000261653.6 - 9 923 c.757G>T c.(757-759)Gct>Tct p.A253S STX2_ENST00000392373.2_Missense_Mutation_p.A253S NM_001980.3 NP_001971.2 P32856 STX2_HUMAN syntaxin 2 253 t-SNARE coiled-coil homology. acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) TATTTGATAGCTTTTTTTGTT 0.338000 25 66 7.26314e-15 9.71626e-15 0.717897 1 0 FLG 2312 broad.mit.edu 37 1 152283566 152283566 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:152283566G>T ENST00000368799.1 - 3 3831 c.3796C>A c.(3796-3798)Cag>Aag p.Q1266K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1266 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) CTGGATCCCTGGTGCCTGCTT 0.557000 Ichthyosis 197 372 1.75318e-83 3.2391e-83 0.870114 1 0 ZNF292 23036 broad.mit.edu 37 6 87968288 87968288 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:87968288G>T ENST00000369577.3 + 8 4984 c.4941G>T c.(4939-4941)ttG>ttT p.L1647F ZNF292_ENST00000339907.4_Missense_Mutation_p.L1642F NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1647 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) CCCAAAACTTGGTAACAAGTG 0.378000 13 6 1.56452e-12 2.01295e-12 0.557998 1 0 AIRE 326 broad.mit.edu 37 21 45708262 45708262 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr21:45708262T>A ENST00000291582.5 + 5 700 c.573T>A c.(571-573)gcT>gcA p.A191A NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 191 SAND. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) TCCAGAGAGCTGTGGCCATGT 0.612000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 30 60 0 0 0.827153 0 0 KLK2 3817 broad.mit.edu 37 19 51379989 51379989 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:51379989C>A ENST00000325321.3 + 3 693 c.468C>A c.(466-468)ggC>ggA p.G156G KLK2_ENST00000391810.2_Silent_p.G54G|KLK2_ENST00000358049.4_Silent_p.G156G P20151 KLK2_HUMAN kallikrein-related peptidase 2 156 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) ACGCCTCAGGCTGGGGCAGCA 0.632000 T ETV4 prostate 10 15 3.86212e-05 4.13506e-05 0.361761 1 0 RPL29 6159 broad.mit.edu 37 3 52029475 52029475 + Translation_Start_Site SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:52029475C>T ENST00000481629.1 - 2 35 c.3G>A c.(1-3)atG>atA p.M1I RPL29_ENST00000479017.1_Start_Codon_SNP_p.M1I|RPL29_ENST00000495383.1_Start_Codon_SNP_p.M1I|RPL29_ENST00000475248.1_Start_Codon_SNP_p.M1I|RPL29_ENST00000294189.6_Start_Codon_SNP_p.M1I|RPL29_ENST00000466397.1_Start_Codon_SNP_p.M1I P47914 RL29_HUMAN ribosomal protein L29 1 embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|protein binding|RNA binding|structural constituent of ribosome lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGGACTTGGCCATGTCTGCAC 0.572000 21 43 0 0 0.693898 0 0 F5 2153 broad.mit.edu 37 1 169500026 169500026 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:169500026G>T ENST00000367796.3 - 15 5422 c.5221C>A c.(5221-5223)Cca>Aca p.P1741T F5_ENST00000367797.3_Missense_Mutation_p.P1736T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1736 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity 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) GTACCTACTGGGTTCACAGCT 0.473000 22 75 2.39556e-15 3.23321e-15 0.639603 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55065679 55065679 + RNA SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:55065679G>T ENST00000526016.1 - 0 29 NR_038174.2 ACTGGGTCTAGGAAGTAGTTC 0.473000 4 60 0.0381472 0.0388525 0.278610 1 0 LPHN2 23266 broad.mit.edu 37 1 82456735 82456735 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:82456735A>G ENST00000370728.1 + 25 4931 c.4286A>G c.(4285-4287)aAt>aGt p.N1429S LPHN2_ENST00000271029.4_Missense_Mutation_p.N1401S|LPHN2_ENST00000370727.1_Missense_Mutation_p.N1401S|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.N1431S|LPHN2_ENST00000370730.1_Missense_Mutation_p.N1386S|LPHN2_ENST00000319517.6_Missense_Mutation_p.N1373S|LPHN2_ENST00000359929.3_Missense_Mutation_p.N1373S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.N1444S|LPHN2_ENST00000370721.1_Missense_Mutation_p.N1354S|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.N1386S|LPHN2_ENST00000370723.1_Missense_Mutation_p.N1431S|LPHN2_ENST00000370725.1_Missense_Mutation_p.N1444S O95490 LPHN2_HUMAN latrophilin 2 1429 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) agcaggggcaatagtgatggt 0.433000 8 13 0 0 0.278610 0 0 RYBP 23429 broad.mit.edu 37 3 72428487 72428487 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:72428487C>A ENST00000477973.1 - 2 514 c.515G>T c.(514-516)aGt>aTt p.S172I NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 0 Interaction with E4TF1B. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) TGCTTTTCAACTTTCTCCTTC 0.418000 48 12 5.85753e-14 7.68325e-14 0.870114 1 0 ITGB6 3694 broad.mit.edu 37 2 161030489 161030489 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:161030489C>A ENST00000283249.2 - 5 992 c.755G>T c.(754-756)tGt>tTt p.C252F ITGB6_ENST00000409967.2_Missense_Mutation_p.C252F|ITGB6_ENST00000428609.2_Missense_Mutation_p.C210F|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.C252F P18564 ITB6_HUMAN integrin, beta 6 252 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 GCATACCTTACACACAGCAGC 0.338000 6 109 1.12685e-05 1.2304e-05 0.307466 1 0 C12orf40 283461 broad.mit.edu 37 12 40076414 40076414 + Splice_Site SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:40076414C>A ENST00000324616.5 + 8 842 c.686_splice c.e8-1 p.L230_splice C12orf40_ENST00000405531.3_Splice_Site_p.L230_splice|C12orf40_ENST00000398716.1_Splice_Site_p.L153_splice NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 230 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 ATCCCAAAGTCTAGGAAATAG 0.323000 11 27 1.08611e-07 1.24656e-07 0.387290 1 0 TRIP6 7205 broad.mit.edu 37 7 100466204 100466204 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:100466204G>T ENST00000200457.4 + 4 811 c.451G>T c.(451-453)Ggc>Tgc p.G151C NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 151 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) TCCCTATGGGGGCCCCACTCC 0.682000 17 44 2.27731e-05 2.45998e-05 0.608945 1 0 KCNA1 3736 broad.mit.edu 37 12 5021397 5021397 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:5021397G>T ENST00000382545.3 + 2 1960 c.853G>T c.(853-855)Gcc>Tcc p.A285S KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 285 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGGCGAGCAGGCCACCTCCCT 0.532000 51 42 1.19403e-26 1.87457e-26 0.870114 1 0 KRAS 3845 broad.mit.edu 37 12 25398282 25398282 + Missense_Mutation SNP C C A rs121913535 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:25398282C>A ENST00000311936.3 - 2 228 c.37G>T c.(37-39)Ggc>Tgc p.G13C KRAS_ENST00000556131.1_Missense_Mutation_p.G13C|KRAS_ENST00000256078.4_Missense_Mutation_p.G13C|KRAS_ENST00000557334.1_Missense_Mutation_p.G13C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 13 G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G13C(213)|p.G13S(59)|p.G13R(43)|p.G12_G13insG(3)|p.G13N(1)|p.G13I(1)|p.G12_G13insA(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TTGCCTACGCCACCAGCTCCA 0.343000 G13C(MORCPR_LUNG)|G13C(NCIH1355_LUNG)|G13C(NCIH1734_LUNG)|G13C(TOV21G_OVARY) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 97 37 6.85551e-66 1.25512e-65 0.870114 1 0 CD5L 922 broad.mit.edu 37 1 157802987 157802987 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:157802987C>A ENST00000368174.4 - 5 1130 c.1034G>T c.(1033-1035)tGc>tTc p.C345F NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 345 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTCACCTGAGCAGATGACAGC 0.522000 102 217 9.9929e-72 1.83506e-71 0.870114 1 0 SLC7A8 23428 broad.mit.edu 37 14 23596461 23596461 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:23596461C>T ENST00000316902.7 - 11 2258 c.1533G>A c.(1531-1533)atG>atA p.M511I SLC7A8_ENST00000469263.1_3'UTR|SLC7A8_ENST00000422941.2_Missense_Mutation_p.M287I|SLC7A8_ENST00000529705.2_Missense_Mutation_p.M406I|SLC7A8_ENST00000453702.1_Missense_Mutation_p.M308I NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 511 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) GCTGCTCCTCCATGTCCTCAT 0.617000 45 62 0 0 0.870114 0 0 ATP7B 540 broad.mit.edu 37 13 52585448 52585448 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:52585448G>C ENST00000242839.4 - 1 182 c.26C>G c.(25-27)aCa>aGa p.T9R ATP7B_ENST00000418097.2_Missense_Mutation_p.T9R|ATP7B_ENST00000448424.2_Missense_Mutation_p.T9R|ATP7B_ENST00000400366.3_Missense_Mutation_p.T9R|ATP7B_ENST00000400370.3_Missense_Mutation_p.T9R|ATP7B_ENST00000344297.5_Missense_Mutation_p.T9R NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 9 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TTCTCTGGCTGTGATCTGTCT 0.612000 Wilson disease 27 83 0 0 0.769981 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322414 79322414 + Missense_Mutation SNP T T G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:79322414T>G ENST00000428286.1 - 8 4899 c.3699A>C c.(3697-3699)caA>caC p.Q1233H PRUNE2_ENST00000376718.3_Missense_Mutation_p.Q1592H Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1592 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTATTTCTACTTGGCCATCAG 0.398000 7 26 0 0 0.248553 0 0 CD300LG 146894 broad.mit.edu 37 17 41934471 41934471 + Splice_Site SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:41934471G>T ENST00000317310.4 + 6 873 c.e6-1 CD300LG_ENST00000377203.4_Splice_Site|CD300LG_ENST00000586233.1_Splice_Site|CD300LG_ENST00000539718.1_Splice_Site|CD300LG_ENST00000293396.8_Splice_Site NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) ATCTCTTTCAGCTCAACAGGC 0.587000 39 45 2.6238e-40 4.5822e-40 0.870114 1 0 NLRP10 338322 broad.mit.edu 37 11 7982275 7982275 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:7982275A>T ENST00000328600.2 - 2 1045 c.884T>A c.(883-885)cTg>cAg p.L295Q NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 295 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCTCAAAGCCAGGGGCCGGGT 0.537000 4 134 0 0 0.217242 0 0 RHBG 57127 broad.mit.edu 37 1 156352644 156352644 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:156352644G>T ENST00000400992.2 + 8 1490 c.1122G>T c.(1120-1122)gtG>gtT p.V374V RHBG_ENST00000255013.3_Silent_p.V337V|RHBG_ENST00000368249.1_Silent_p.V406V|RHBG_ENST00000368246.2_Silent_p.V406V|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000451864.2_Silent_p.V328V Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 406 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) TTGCCTCTGTGGGCGGGGGCC 0.522000 OREG0013870 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 93 85 6.50375e-52 1.173e-51 0.870114 1 0 ITGA2 3673 broad.mit.edu 37 5 52353897 52353897 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:52353897A>T ENST00000296585.5 + 10 1282 c.1139A>T c.(1138-1140)cAa>cTa p.Q380L NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 380 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GAAATGTCACAAGTGGGATTC 0.363000 26 264 0 0 0.796494 0 0 OR6C76 390326 broad.mit.edu 37 12 55820793 55820793 + Nonsense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:55820793C>A ENST00000328314.3 + 1 756 c.756C>A c.(754-756)tgC>tgA p.C252* NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ATGGAAGCTGCATCTTCATGT 0.408000 10 55 0.38729 0.389217 0.387290 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33588885 33588885 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:33588885G>A ENST00000504830.1 - 18 3019 c.2684C>T c.(2683-2685)tCg>tTg p.S895L ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S810L NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 895 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCATGTCGCCGAGCATGCTTC 0.582000 HNSCC(64;0.19) OREG0016553 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 153 0 0 0.750413 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 4 101 0 0 0.184627 0 0 SEMA4A 64218 broad.mit.edu 37 1 156142757 156142757 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:156142757C>A ENST00000368285.3 + 11 1542 c.1275C>A c.(1273-1275)ggC>ggA p.G425G SEMA4A_ENST00000368284.1_Silent_p.G293G|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.G425G|SEMA4A_ENST00000368282.1_Silent_p.G425G|SEMA4A_ENST00000368286.2_Silent_p.G293G NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 425 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CAGCCCAGGGCCTTGATGGGC 0.572000 29 46 6.04164e-23 9.22226e-23 0.750413 1 0 HMCN1 83872 broad.mit.edu 37 1 185987359 185987359 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:185987359A>G ENST00000271588.4 + 34 5574 c.5345A>G c.(5344-5346)aAg>aGg p.K1782R HMCN1_ENST00000367492.2_Missense_Mutation_p.K1782R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1782 Ig-like C2-type 15. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GATGGATTCAAGATTTTATTA 0.398000 45 149 0 0 0.870114 0 0 OTOF 9381 broad.mit.edu 37 2 26684593 26684593 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:26684593G>A ENST00000272371.2 - 43 5630 c.5504C>T c.(5503-5505)gCg>gTg p.A1835V OTOF_ENST00000338581.6_Missense_Mutation_p.A1068V|OTOF_ENST00000339598.3_Missense_Mutation_p.A1068V|OTOF_ENST00000403946.3_Missense_Mutation_p.A1835V|OTOF_ENST00000402415.3_Missense_Mutation_p.A1145V NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1835 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding p.A1068V(1)|p.A1835V(1) NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGTGGTCCGCATCCCAGAT 0.622000 5 293 0 0 0.307466 0 0 ANKRD2 26287 broad.mit.edu 37 10 99342436 99342436 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:99342436G>T ENST00000307518.5 + 8 1177 c.910G>T c.(910-912)Gct>Tct p.A304S ANKRD2_ENST00000455090.1_Missense_Mutation_p.A244S|ANKRD2_ENST00000298808.5_Missense_Mutation_p.A271S|ANKRD2_ENST00000370655.1_Missense_Mutation_p.A277S Q9GZV1 ANKR2_HUMAN ankyrin repeat domain 2 (stretch responsive muscle) 304 muscle contraction|muscle organ development structural constituent of muscle breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 all_hematologic(284;1.95e-06)|Colorectal(252;0.0163) Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241) CCTGCATGGGGCTGACATGAT 0.537000 52 74 1.08141e-31 1.80036e-31 0.870114 1 0 NFAT5 10725 broad.mit.edu 37 16 69680966 69680966 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr16:69680966G>T ENST00000349945.1 + 5 1559 c.7G>T c.(7-9)Ggt>Tgt p.G3C NFAT5_ENST00000354436.2_Missense_Mutation_p.G79C|NFAT5_ENST00000567239.1_Missense_Mutation_p.G97C|NFAT5_ENST00000432919.1_Missense_Mutation_p.G97C|NFAT5_ENST00000393742.2_Missense_Mutation_p.G3C|NFAT5_ENST00000566899.1_Missense_Mutation_p.G3C NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 79 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTCCATGGGCGGTGCTTGCAG 0.507000 140 319 1.84797e-88 3.42468e-88 0.870114 1 0 SLC5A10 125206 broad.mit.edu 37 17 18916823 18916823 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr17:18916823G>A ENST00000317977.6 + 9 1453 c.882G>A c.(880-882)atG>atA p.M294I SLC5A10_ENST00000395645.3_Missense_Mutation_p.M361I|SLC5A10_ENST00000395642.1_Missense_Mutation_p.M294I|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Missense_Mutation_p.M334I|SLC5A10_ENST00000395647.2_Missense_Mutation_p.M377I A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 361 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 TGGAACTGATGCCCATCGGTG 0.662000 41 113 0 0 0.870114 0 0 PTPRM 5797 broad.mit.edu 37 18 8387193 8387193 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr18:8387193G>C ENST00000332175.8 + 29 5166 c.4129G>C c.(4129-4131)Gag>Cag p.E1377Q PTPRM_ENST00000444013.1_Missense_Mutation_p.E1164Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1391Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1315Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1390Q NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1377 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GTGGCAAGAGGAGTACAATGG 0.557000 13 54 0 0 0.575678 0 0 OR52E6 390078 broad.mit.edu 37 11 5862246 5862246 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:5862246C>A ENST00000329322.5 - 1 881 c.882G>T c.(880-882)ggG>ggT p.G294G TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.G298G NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGTTCTGACCCCATAGATTA 0.423000 33 92 2.52991e-16 3.48437e-16 0.870114 1 0 HK3 3101 broad.mit.edu 37 5 176316701 176316701 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr5:176316701G>A ENST00000292432.5 - 7 766 c.675C>T c.(673-675)ggC>ggT p.G225G NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 225 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCATCATGGTGCCCACTGTGT 0.587000 63 14 0 0 0.870114 0 0 CYP2W1 54905 broad.mit.edu 37 7 1024666 1024666 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:1024666C>A ENST00000340150.6 + 3 272 c.250C>A c.(250-252)Cgg>Agg p.R84R CYP2W1_ENST00000308919.7_Silent_p.R140R Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 140 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GGGCGTGGGCCGGGAGCCGGT 0.672000 10 29 2.27111e-07 2.57733e-07 0.411799 1 0 C1QB 713 broad.mit.edu 37 1 22987611 22987611 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:22987611C>A ENST00000509305.1 + 3 834 c.488C>A c.(487-489)cCc>cAc p.P163H C1QB_ENST00000314933.6_Missense_Mutation_p.P165H P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 165 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGCAAGGTGCCCGGTCTCTAC 0.597000 32 65 8.4185e-14 1.10186e-13 0.760397 1 0 RPE65 6121 broad.mit.edu 37 1 68904730 68904730 + Missense_Mutation SNP T T G rs61752902 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:68904730T>G ENST00000262340.5 - 9 946 c.893A>C c.(892-894)aAg>aCg p.K298T NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 298 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 ATTGAGGTACTTTTTCCTTTT 0.333000 3 46 0 0 0.115264 0 0 MAFB 9935 broad.mit.edu 37 20 39317311 39317311 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:39317311G>A ENST00000373313.2 - 1 569 c.180C>T c.(178-180)ctC>ctT p.L60L MAFB_ENST00000396967.1_Silent_p.L60L NM_005461.3 NP_005452.2 Q9Y5Q3 MAFB_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 60 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(1)|large_intestine(1) 2 Myeloproliferative disorder(115;0.00878) ACGGAGTGCTGAGCGGTGTGG 0.657000 T IGH@ MM 41 55 0 0 0.870114 0 0 NQO2 4835 broad.mit.edu 37 6 3012887 3012887 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:3012887G>T ENST00000338130.2 + 7 994 c.282G>T c.(280-282)gaG>gaT p.E94D NQO2_ENST00000380430.1_Missense_Mutation_p.E94D|NQO2_ENST00000380455.4_Missense_Mutation_p.E94D|NQO2_ENST00000380441.1_Missense_Mutation_p.E94D|NQO2_ENST00000380454.4_Missense_Mutation_p.E94D P16083 NQO2_HUMAN NAD(P)H dehydrogenase, quinone 2 94 cytoplasm|nucleus coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(93;0.0412) all_hematologic(90;0.0895) Menadione(DB00170)|NADH(DB00157) AGGTTCGGGAGGCTGACCTAG 0.388000 31 31 8.20599e-20 1.19539e-19 0.859065 1 0 GUSB 2990 broad.mit.edu 37 7 65447099 65447099 + Missense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:65447099C>A ENST00000304895.4 - 1 202 c.72G>T c.(70-72)caG>caT p.Q24H GUSB_ENST00000345660.6_Missense_Mutation_p.Q24H|GUSB_ENST00000421103.1_Missense_Mutation_p.Q24H NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 24 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 GCATCCCGCCCTGCAGCCCCA 0.741000 3 11 0.004672 0.00483971 0.115264 1 0 DIO2 1734 broad.mit.edu 37 14 80677658 80677658 + Missense_Mutation SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr14:80677658C>G ENST00000557010.1 - 3 543 c.158G>C c.(157-159)cGc>cCc p.R53P DIO2_ENST00000555750.1_Missense_Mutation_p.R53P|DIO2_ENST00000422005.3_Missense_Mutation_p.R53P|DIO2_ENST00000438257.4_Missense_Mutation_p.R53P|DIO2_ENST00000557125.1_Intron NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 53 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) GGTCAGCATGCGCCGCCACTC 0.587000 39 8 0 0 0.870114 0 0 RHOD 29984 broad.mit.edu 37 11 66839000 66839000 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:66839000C>T ENST00000308831.2 + 5 645 c.560C>T c.(559-561)gCc>gTc p.A187V RHOD_ENST00000532559.1_Missense_Mutation_p.A121V NM_014578.3 NP_055393.1 O00212 RHOD_HUMAN ras homolog family member D 187 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity lung(3) 3 CAGGAGGCCGCCGAGGTGGCC 0.701000 9 19 0 0 0.335167 0 0 KRT77 374454 broad.mit.edu 37 12 53086629 53086629 + Silent SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:53086629T>C ENST00000341809.3 - 6 1144 c.1116A>G c.(1114-1116)ggA>ggG p.G372G RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Silent_p.G139G NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 372 Coil 2.|Rod. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 TCAGGTCGTCTCCATGTCTCC 0.592000 27 28 0 0 0.804634 0 0 UBE3D 90025 broad.mit.edu 37 6 83732221 83732221 + Missense_Mutation SNP C C T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:83732221C>T ENST00000369747.3 - 7 919 c.797G>A c.(796-798)aGc>aAc p.S266N NM_198920.1 NP_944602.1 Q7Z6J8 UB2CB_HUMAN ubiquitin protein ligase E3D 266 cytoplasm ligase activity TCTAAAAGTGCTTCTAGCAGA 0.403000 11 30 0 0 0.539581 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74540461 74540461 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:74540461G>T ENST00000354431.4 - 6 1072 c.881C>A c.(880-882)cCt>cAt p.P294H LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P294H NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 294 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TAAATCAACAGGATAATATAT 0.269000 12 16 2.27111e-07 2.57733e-07 0.411799 1 0 LAMP3 27074 broad.mit.edu 37 3 182871802 182871802 + Missense_Mutation SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:182871802G>A ENST00000265598.3 - 2 682 c.427C>T c.(427-429)Cat>Tat p.H143Y LAMP3_ENST00000466939.1_Missense_Mutation_p.H119Y NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 143 Thr-rich. cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) CCAGTTGTATGAGCTGGTGGG 0.522000 72 135 0 0 0.870114 0 0 DUSP27 92235 broad.mit.edu 37 1 167096261 167096261 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:167096261G>C ENST00000361200.2 + 6 2059 c.1893G>C c.(1891-1893)gaG>gaC p.E631D DUSP27_ENST00000443333.1_Missense_Mutation_p.E631D|DUSP27_ENST00000271385.5_Missense_Mutation_p.E631D|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 631 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGCTGCTGGAGAGAAGCCGGC 0.627000 9 21 0 0 0.387290 0 0 DGKI 9162 broad.mit.edu 37 7 137266618 137266618 + Silent SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:137266618T>A ENST00000453654.1 - 15 1259 c.720A>T c.(718-720)acA>acT p.T240T DGKI_ENST00000424189.2_Silent_p.T540T|DGKI_ENST00000288490.5_Silent_p.T540T|DGKI_ENST00000446122.1_Silent_p.T540T O75912 DGKI_HUMAN diacylglycerol kinase, iota 540 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GGAACTCCAGTGTGACATGGG 0.443000 25 81 0 0 0.717897 0 0 BTN1A1 696 broad.mit.edu 37 6 26501822 26501822 + Silent SNP C C G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:26501822C>G ENST00000244513.6 + 2 150 c.84C>G c.(82-84)ccC>ccG p.P28P NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 28 Ig-like V-type 1. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 CGGCAGCTCCCTTTGACGTGA 0.647000 18 47 0 0 0.608945 0 0 ARNT2 9915 broad.mit.edu 37 15 80767473 80767473 + Silent SNP G G A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:80767473G>A ENST00000533983.1 + 6 837 c.498G>A c.(496-498)gaG>gaA p.E166E ARNT2_ENST00000303329.4_Silent_p.E177E|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Silent_p.E166E Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 177 PAS 1. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) CCCAGTCAGAGTGGTTTGGGA 0.517000 43 55 0 0 0.864702 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55341667 55341667 + Missense_Mutation SNP T T A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:55341667T>A ENST00000391728.4 + 9 1305 c.1272T>A c.(1270-1272)gaT>gaA p.D424E KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D407E|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D407E|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D424E|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D329E 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) CCCCTACAGATACCATCTTGT 0.517000 102 174 0 0 0.870114 0 0 SLMAP 7871 broad.mit.edu 37 3 57898350 57898350 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr3:57898350A>T ENST00000295951.3 + 18 3057 c.1840A>T c.(1840-1842)Aca>Tca p.T614S SLMAP_ENST00000442599.2_Missense_Mutation_p.T99S|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000449503.2_Missense_Mutation_p.T593S|SLMAP_ENST00000428312.1_Missense_Mutation_p.T631S|SLMAP_ENST00000416870.1_Missense_Mutation_p.T124S|SLMAP_ENST00000295952.3_Missense_Mutation_p.T614S|SLMAP_ENST00000495364.1_Missense_Mutation_p.T165S|SLMAP_ENST00000494088.1_Missense_Mutation_p.T124S Q14BN4 SLMAP_HUMAN sarcolemma associated protein 631 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GAAAGAAATCACAAGTCTGCA 0.433000 18 38 0 0 0.624587 0 0 IL26 55801 broad.mit.edu 37 12 68619400 68619400 + Missense_Mutation SNP T T C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:68619400T>C ENST00000229134.4 - 1 201 c.137A>G c.(136-138)tAt>tGt p.Y46C IFNG-AS1_ENST00000536914.1_RNA NM_018402.1 NP_060872.1 Q9NPH9 IL26_HUMAN interleukin 26 46 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) TGCTTTGATATAGAGAGCGTC 0.418000 69 174 0 0 0.870114 0 0 ASTN1 460 broad.mit.edu 37 1 176927594 176927594 + Silent SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:176927594G>T ENST00000367654.2 - 10 1660 c.1647C>A c.(1645-1647)ggC>ggA p.G549G ASTN1_ENST00000424564.2_Silent_p.G541G|ASTN1_ENST00000361833.2_Silent_p.G541G|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.G541G O14525 ASTN1_HUMAN astrotactin 1 549 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCAACCACATGCCCTCCCCAA 0.547000 10 15 0.00136819 0.00142953 0.411799 1 0 DLGAP3 58512 broad.mit.edu 37 1 35370504 35370504 + Nonsense_Mutation SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:35370504C>A ENST00000373347.1 - 3 749 c.481G>T c.(481-483)Gag>Tag p.E161* DLGAP3_ENST00000235180.4_Nonsense_Mutation_p.E161* O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 161 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CTGCGGGGCTCTGGGGCAGTG 0.657000 35 18 2.19489e-29 3.61441e-29 0.819951 1 0 POU4F2 5458 broad.mit.edu 37 4 147560364 147560364 + Silent SNP C C A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:147560364C>A ENST00000281321.3 + 1 320 c.72C>A c.(70-72)ccC>ccA p.P24P NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 24 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGTGGAGCCCAAGTACTCGG 0.692000 10 10 1.61879e-10 1.97382e-10 0.411799 1 0 BTN3A2 11118 broad.mit.edu 37 6 26373136 26373136 + Missense_Mutation SNP A A T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr6:26373136A>T ENST00000356386.2 + 6 915 c.727A>T c.(727-729)Agg>Tgg p.R243W BTN3A2_ENST00000527422.1_Missense_Mutation_p.R243W|BTN3A2_ENST00000396934.3_Missense_Mutation_p.R220W|BTN3A2_ENST00000508906.2_Missense_Mutation_p.R201W|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Missense_Mutation_p.R243W|BTN3A2_ENST00000377708.2_Missense_Mutation_p.R243W NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 243 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 CCCCTTCTTCAGGAGCGCCCA 0.627000 54 48 0 0 0.870114 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887215 12887217 + In_Frame_Del DEL CTT CTT - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:12887215_12887217delCTT ENST00000535591.1 - 3 835_837 c.640_642delAAG c.(640-642)del p.K214del NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 214 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TAACAATCTCCTTCTTCTGCTCT 0.512 54 150 --- --- --- --- PADI4 23569 broad.mit.edu 37 1 17657545 17657546 + Frame_Shift_Ins INS - - A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr1:17657545_17657546insA ENST00000375448.4 + 2 200_201 c.174_175insA c.(172-177)gcagaafs p.E59fs AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000375453.1_Frame_Shift_Ins_p.E59fs NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 59 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GCCCTCCAGCCAAGAAGAAATC 0.604 60 56 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91893902 91893902 + RNA DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr2:91893902delC ENST00000436174.1 - 0 316 GGCAAGTAATCTTCCTTCTGC 0.353 107 668 --- --- --- --- TBC1D9 23158 broad.mit.edu 37 4 141592064 141592064 + Frame_Shift_Del DEL T T - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr4:141592064delT ENST00000442267.2 - 7 1150 c.1076delA c.(1075-1077)agfs p.K359fs NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 359 GRAM 2. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GCTGTCTGCCTTTTCCACAAT 0.453 90 130 --- --- --- --- AKR1B10 57016 broad.mit.edu 37 7 134222395 134222396 + Frame_Shift_Ins INS - - A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:134222395_134222396insA ENST00000359579.4 + 7 1043_1044 c.723_724insA c.(721-726)caaaaafs p.QK241fs NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 241 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 CTGCAAAGCACAAAAAAACCGC 0.446 18 95 --- --- --- --- TRBV6-7 28600 broad.mit.edu 37 7 142143970 142143970 + RNA DEL G G - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:142143970delG ENST00000390373.2 - 0 49 CAAAGCTGATGCTACAGCTCC 0.567 33 133 --- --- --- --- TRBV5-3 28612 broad.mit.edu 37 7 142242736 142242736 + RNA DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:142242736delC ENST00000390362.1 - 0 11 AGCAGAGGAGCCCGGGGCCCA 0.582 9 52 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149522379 149522379 + RNA DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:149522379delC ENST00000378016.2 + 0 14009 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGCTGCGAGGCCCAAGACACT 0.627 43 163 --- --- --- --- PTPRN2 5799 broad.mit.edu 37 7 157959915 157959915 + Frame_Shift_Del DEL G G - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr7:157959915delG ENST00000389413.3 - 6 721 c.618delC c.(616-618)ccfs p.P206fs PTPRN2_ENST00000389416.4_Frame_Shift_Del_p.P189fs|PTPRN2_ENST00000389418.4_Frame_Shift_Del_p.P206fs|PTPRN2_ENST00000404321.2_Frame_Shift_Del_p.P229fs|PTPRN2_ENST00000409483.1_Frame_Shift_Del_p.P168fs NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 206 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) TCCGGGACCCGGGAGGGTAGG 0.632 36 72 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77617546 77617547 + Frame_Shift_Ins INS - - G rs13252403 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:77617546_77617547insG ENST00000521891.2 + 2 1671_1672 c.1223_1224insG c.(1222-1224)cggfs p.R408fs ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.R408fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 408 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAAGTGAATCTGGGGGGGCTGT 0.535 HNSCC(33;0.089) 15 96 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77765167 77765167 + Frame_Shift_Del DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr8:77765167delC ENST00000521891.2 + 10 6458 c.6010delC c.(6010-6012)ccfs p.P2011fs ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.P1966fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.P1966fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.P1985fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1966 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGAAACGccgcccccgccacc 0.517 HNSCC(33;0.089) 10 3 --- --- --- --- SPATA31D1 389763 broad.mit.edu 37 9 84606458 84606458 + Frame_Shift_Del DEL G G - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr9:84606458delG ENST00000344803.2 + 4 1120 c.1073delG c.(1072-1074)tgfs p.W359fs NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GAATTCACCTGGTGGCAGCCT 0.478 22 36 --- --- --- --- POLR3A 11128 broad.mit.edu 37 10 79769363 79769364 + Frame_Shift_Del DEL CT CT - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:79769363_79769364delCT ENST00000372371.3 - 14 1977_1978 c.1840_1841delAG c.(1840-1842)gfs p.R614fs NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 614 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CAGGTTGGCCCTCACTGGATTG 0.574 225 100 --- --- --- --- CUZD1 50624 broad.mit.edu 37 10 124594350 124594351 + Frame_Shift_Ins INS - - A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr10:124594350_124594351insA ENST00000368904.1 - 9 2202_2203 c.1253_1254insT c.(1252-1254)taafs p.*418fs CUZD1_ENST00000545804.1_Frame_Shift_Ins_p.*418fs|CUZD1_ENST00000392790.1_Frame_Shift_Ins_p.*418fs Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 418 ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane p.L418L(1) NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GAGTTTGGTTCAAATCCACATA 0.386 12 16 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6651951 6651951 + Frame_Shift_Del DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:6651951delC ENST00000299441.3 - 10 4485 c.4074delG c.(4072-4074)gafs p.E1358fs RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1358 Cadherin 13. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACCCGCGGGCTCTGGCGCTG 0.706 8 1 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65270058 65270059 + RNA INS - - G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:65270058_65270059insG ENST00000534336.1 + 0 4826_4827 NR_002819.2 TGTCTCTTAGAGGGTGGGCTTT 0.327 23 81 --- --- --- --- MMP3 4314 broad.mit.edu 37 11 102713483 102713483 + Frame_Shift_Del DEL G G - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:102713483delG ENST00000299855.5 - 2 526 c.270delC c.(268-270)ccfs p.P90fs NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 90 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) CTCCACACCTGGGCTTGCGCA 0.507 21 28 --- --- --- --- OR10G4 390264 broad.mit.edu 37 11 123886748 123886749 + Frame_Shift_Ins INS - - T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:123886748_123886749insT ENST00000320891.4 + 1 467_468 c.467_468insT c.(466-468)ggtfs p.G156fs NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTGCACTCTGCTGTCCAGACCA 0.574 82 95 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129739464 129739464 + Frame_Shift_Del DEL G G - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr11:129739464delG ENST00000446488.3 - 23 3559 c.3456delC c.(3454-3456)ccfs p.P1152fs NFRKB_ENST00000304521.5_Frame_Shift_Del_p.P1152fs|NFRKB_ENST00000524794.1_Frame_Shift_Del_p.P1177fs|NFRKB_ENST00000524746.1_Frame_Shift_Del_p.P1152fs NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1152 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TGATGCTGATGGGGGTGCTTG 0.577 24 56 --- --- --- --- CNTN1 1272 broad.mit.edu 37 12 41318435 41318436 + Frame_Shift_Ins INS - - A TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:41318435_41318436insA ENST00000551295.2 + 6 594_595 c.477_478insA c.(475-480)gaccccfs p.D159fs CNTN1_ENST00000347616.1_Frame_Shift_Ins_p.D159fs|CNTN1_ENST00000360099.3_Frame_Shift_Ins_p.D159fs|CNTN1_ENST00000348761.2_Frame_Shift_Ins_p.D148fs|CNTN1_ENST00000547849.1_Frame_Shift_Ins_p.D159fs|CNTN1_ENST00000547702.1_Frame_Shift_Ins_p.D159fs NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 159 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.P160T(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTCTCTGTGACCCCCCATACCA 0.381 16 83 --- --- --- --- LOC101928617 101928617 broad.mit.edu 37 12 92579605 92579607 + RNA DEL TCC TCC - rs67662368 TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr12:92579605_92579607delTCC ENST00000499685.2 + 0 1868_1870 ctccccttcttcctcctcctcct 0.374 2 4 --- --- --- --- DCLK1 9201 broad.mit.edu 37 13 36397008 36397008 + Frame_Shift_Del DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr13:36397008delC ENST00000255448.4 - 11 1623 c.1412delG c.(1411-1413)gafs p.G471fs DCLK1_ENST00000379893.1_Frame_Shift_Del_p.G164fs|DCLK1_ENST00000360631.3_Frame_Shift_Del_p.G471fs NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 471 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AAAAAGGTCTCCCCCCTGAGA 0.517 37 59 --- --- --- --- BNIP2 663 broad.mit.edu 37 15 59971851 59971851 + Frame_Shift_Del DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:59971851delC ENST00000267859.3 - 4 691 c.598delG c.(598-600)agfs p.E200fs BNIP2_ENST00000415213.2_Frame_Shift_Del_p.E141fs|BNIP2_ENST00000607373.1_Frame_Shift_Del_p.E79fs Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 79 CRAL-TRIO. anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm calcium ion binding|GTPase activator activity|protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 AAGTCAATCTCCCCACTTTCA 0.383 16 25 --- --- --- --- ANXA2 302 broad.mit.edu 37 15 60653163 60653163 + Frame_Shift_Del DEL A A - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr15:60653163delA ENST00000396024.3 - 6 493 c.334delT c.(334-336)ctfs p.S112fs ANXA2_ENST00000332680.4_Frame_Shift_Del_p.S130fs|ANXA2_ENST00000421017.2_Frame_Shift_Del_p.S112fs|ANXA2_ENST00000451270.2_Frame_Shift_Del_p.S112fs NM_001136015.2 NP_001129487.1 P07355 ANXA2_HUMAN annexin A2 112 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) TTTAGCTCAGAAGCGTCATAC 0.423 17 17 --- --- --- --- ZNF536 9745 broad.mit.edu 37 19 30936133 30936133 + Frame_Shift_Del DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr19:30936133delC ENST00000355537.3 + 2 1811 c.1664delC c.(1663-1665)gcfs p.A555fs NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TTGGCAAACGCCGGGGTTCTG 0.537 44 79 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1435763 1435763 + Frame_Shift_Del DEL C C - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr20:1435763delC ENST00000216879.4 - 4 1160 c.293delG c.(292-294)gcfs p.G98fs RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Frame_Shift_Del_p.G100fs|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Frame_Shift_Del_p.G100fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Del_p.G98fs NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 98 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 TCTCTCTGAGCCCCCAGCATA 0.488 114 208 --- --- --- --- PI4KAP1 728233 broad.mit.edu 37 22 20394611 20394613 + RNA DEL CTC CTC - TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e497004-9b23-4e0b-b5e6-2f756f23110f 80309912-c94c-440a-a83d-c689400802ab g.chr22:20394611_20394613delCTC ENST00000430523.3 - 0 582_584 NR_003563.1 AGCCTGTGTTCTCCTCTACTAAC 0.547 11 28 --- --- --- ---