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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut HELQ 113510 broad.mit.edu 37 4 84376745 84376745 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:84376745G>A uc003hom.3 - 0 281 c.102C>T c.(100-102)ctC>ctT p.L34L HELQ_uc010ikb.3_Silent_p.L34L|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript|HELQ_uc003hon.1_5'UTR|HELQ_uc003hoo.1_Silent_p.L34L|HELQ_uc003hop.1_5'UTR|HELQ_uc003hoq.1_Silent_p.L34L|MRPS18C_uc003hor.4_5'Flank NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN Homo sapiens helicase, POLQ-like (HELQ), mRNA. 34 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTCCGGGCACGAGCTCGGCCG 0.617000 Other identified genes with known or suspected DNA repair function OREG0016254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 102 37 0 0 0.007835 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55330026 55330026 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:55330026C>T uc002qhl.4 + 2 390 c.327C>T c.(325-327)ccC>ccT p.P109P KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.P109P|KIR3DL2_uc010esf.3_Intron|KIR3DL2_uc021vbo.1_Silent_p.P109P|KIR3DL2_uc002qhk.4_Silent_p.P109P P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 109 cellular defense response|regulation of immune response integral to plasma membrane receptor activity p.P109P(2) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGTCGGCACCCAGCAACCCCG 0.602000 69 24 0 0 0.003330 0 0 ITK 3702 broad.mit.edu 37 5 156676015 156676015 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:156676015G>A uc003lwo.1 + 15 1871 c.1789G>A c.(1789-1791)Gag>Aag p.E597K NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 597 Protein kinase. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.E597K(2) 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) CTGCTGGAAAGAGGTCAGTGG 0.522000 T SYK peripheral T-cell lymphoma 173 74 0 0 0.003610 0 0 FERMT3 83706 broad.mit.edu 37 11 63978105 63978105 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:63978105C>T uc001nyl.2 + 2 332 c.183C>T c.(181-183)gaC>gaT p.D61D FERMT3_uc001nym.2_Silent_p.D61D NM_178443 NP_848537 Q86UX7 URP2_HUMAN Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA. 61 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 ACTGGTCAGACCATGCTATTT 0.612000 86 29 0 0 0.004289 0 0 TTPAL 79183 broad.mit.edu 37 20 43108798 43108798 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:43108798G>A uc002xmc.1 + 2 283 c.159G>A c.(157-159)tgG>tgA p.W53* TTPAL_uc002xmd.1_Nonsense_Mutation_p.W53*|TTPAL_uc010ggr.1_5'UTR NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA. 53 intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 AGCCGGAATGGAGACTTCGAG 0.597000 13 9 0 0 0.006214 0 0 CCDC39 339829 broad.mit.edu 37 3 180377491 180377491 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:180377491C>T uc010hxe.3 - 4 698 c.583G>A c.(583-585)Gaa>Aaa p.E195K CCDC39_uc003fkn.3_Non-coding_Transcript NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA. 195 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCTGTAAGTTCGTTGTCAAGT 0.308000 76 12 0 0 0.002450 0 0 MME 4311 broad.mit.edu 37 3 154886390 154886390 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:154886390C>T uc010hvr.1 + 18 2101 c.1890C>T c.(1888-1890)tcC>tcT p.S630S MME_uc003fab.1_Silent_p.S630S|MME_uc003fac.1_Silent_p.S630S|MME_uc003fad.1_Silent_p.S630S|MME_uc003fae.1_Silent_p.S630S NM_007289 NP_009220 P08473 NEP_HUMAN Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA. 630 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GAAACTTTTCCTGGGACCTGG 0.403000 52 17 0 0 0.001882 0 0 CACNA1C 775 broad.mit.edu 37 12 2742834 2742834 + Missense_Mutation SNP A C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:2742834A>C uc009zdu.1 + 30 4241 c.3928A>C c.(3928-3930)Atc>Ctc p.I1310L CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Missense_Mutation_p.I1310L|CACNA1C_uc001qkj.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qkk.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qkq.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qks.2_Missense_Mutation_p.I1290L|CACNA1C_uc001qkt.2_Missense_Mutation_p.I1290L|CACNA1C_uc009zdv.1_Missense_Mutation_p.I1287L|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.I1026L NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1310 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGACTTCCTCATCGTAATTGG 0.458000 75 28 0 0 0.002836 0 0 SYVN1 84447 broad.mit.edu 37 11 64898200 64898201 + Missense_Mutation DNP GG TT TT rs143801580 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:64898200_64898201GG>TT uc001odb.3 - 10 1130_1131 c.1036_1037CC>AA c.(1036-1038)ccg>AAg p.P346K SYVN1_uc001odc.3_Missense_Mutation_p.P346K|SYVN1_uc009yqc.3_Missense_Mutation_p.P295K NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA. 346 Pro-rich. ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 CGCAGGCTCCGGGGGTGGTGGT 0.688000 29 8 0 0 0.004672 0 0 ACTR1B 10120 broad.mit.edu 37 2 98275872 98275872 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:98275872C>T uc002syb.2 - 3 466 c.258G>A c.(256-258)atG>atA p.M86I NM_005735 NP_005726 P42025 ACTY_HUMAN Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA. 86 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 AGATGCGTTCCATGTCGTTCC 0.647000 108 59 0 0 0.003610 0 0 CUX1 1523 broad.mit.edu 37 7 101870752 101870752 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:101870752C>T uc003uys.4 + 20 3396 c.3269C>T c.(3268-3270)cCc>cTc p.P1090L CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.P1079L NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 1079 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CAGCCCTGTCCCCCCATCGAG 0.662000 18 18 0 0 0.006122 0 0 TRIM35 23087 broad.mit.edu 37 8 27151620 27151621 + Missense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:27151620_27151621CC>TT uc003xfl.1 - 2 820_821 c.738_739GG>AA c.(736-741)aaggag>aaAAag p.E247K TRIM35_uc010lup.1_Missense_Mutation_p.E215K|TRIM35_uc003xfm.1_Non-coding_Transcript NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA. 247 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) ACGTCGTCCTCCTTCATCTCCA 0.569000 44 14 0 0 0.004672 0 0 DNAH5 1767 broad.mit.edu 37 5 13850770 13850770 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:13850770G>A uc003jfd.2 - 30 5147 c.5105C>T c.(5104-5106)tCc>tTc p.S1702F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1702 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCAGTAAGGGATTTCTGGCA 0.468000 Kartagener syndrome 28 11 0 0 0.001368 0 0 RASGRF1 5923 broad.mit.edu 37 15 79339128 79339128 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:79339128G>A uc002beq.3 - 4 1213 c.838C>T c.(838-840)Ccc>Tcc p.P280S RASGRF1_uc002bep.3_Missense_Mutation_p.P280S|RASGRF1_uc010blm.1_Missense_Mutation_p.P202S|RASGRF1_uc002ber.4_Missense_Mutation_p.P280S NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 280 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TGTGTGATGGGAGGCTTCTTG 0.592000 95 39 0 0 0.002522 0 0 DSC2 1824 broad.mit.edu 37 18 28669437 28669437 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:28669437G>A uc002kwl.4 - 4 1049 c.595C>T c.(595-597)Cgt>Tgt p.R199C DSC2_uc002kwk.4_Missense_Mutation_p.R199C NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 199 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TCTACAGGACGAGTACAATAC 0.378000 31 23 0 0 0.003330 0 0 MICAL3 57553 broad.mit.edu 37 22 18301313 18301313 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:18301313G>A uc002zng.4 - 25 4467 c.4114C>T c.(4114-4116)Ccc>Tcc p.P1372S MICAL3_uc011agl.2_Missense_Mutation_p.P1288S|MICAL3_uc010gre.2_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 1372 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TCATCCTGGGGGGACTTTTCA 0.642000 126 64 0 0 0.003610 0 0 RAB40B 10966 broad.mit.edu 37 17 80616413 80616413 + Silent SNP G A A rs142445256 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:80616413G>A uc002kft.3 - 4 645 c.519C>T c.(517-519)atC>atT p.I173I RAB40B_uc002kfs.3_Non-coding_Transcript NM_006822 NP_006813 Q12829 RB40B_HUMAN Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA. 173 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GCAGCAGCACGATCCTGGCCA 0.657000 29 45 0 0 0.003610 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143613 61143613 + RNA SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:61143613G>A uc021wfy.1 - 0 c.270C>T C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds. GGGCCACTTGGGACACTCAGC 0.662000 22 9 0 0 0.004482 0 0 METTL13 51603 broad.mit.edu 37 1 171761261 171761261 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:171761261C>T uc001ghz.3 + 5 1926 c.1579C>T c.(1579-1581)Ccc>Tcc p.P527S METTL13_uc001gia.3_Missense_Mutation_p.P441S|METTL13_uc001gib.3_Missense_Mutation_p.P371S|METTL13_uc010pml.2_Missense_Mutation_p.P526S|METTL13_uc001gic.1_5'Flank NM_015935 NP_055770 Q8N6R0 MTL13_HUMAN Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA. 527 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GGAGATCGATCCCTCCATGTT 0.567000 89 32 0 0 0.002096 0 0 CORO1C 23603 broad.mit.edu 37 12 109042615 109042615 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:109042615G>A uc009zva.3 - 9 1279 c.1230C>T c.(1228-1230)ttC>ttT p.F410F CORO1C_uc001tnj.3_Silent_p.F357F|CORO1C_uc010sxf.2_Silent_p.F320F NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA. 357 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 GGTCATCTTGGAAAAGGTCAG 0.463000 44 19 0 0 0.002299 0 0 C14orf21 161424 broad.mit.edu 37 14 24774194 24774194 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:24774194C>T uc001wol.1 + 9 1867 c.1804C>T c.(1804-1806)Cga>Tga p.R602* C14orf21_uc001wom.1_Nonsense_Mutation_p.R153* NM_174913 NP_777573 Q86U38 CN021_HUMAN Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA. 602 RNA binding breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3) 17 GBM - Glioblastoma multiforme(265;0.0185) CCATGTGGCTCGAAATGTGGC 0.547000 27 16 0 0 0.004007 0 0 PCM1 5108 broad.mit.edu 37 8 17796417 17796417 + Missense_Mutation SNP T G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:17796417T>G uc022asj.1 + 2 533 c.511T>G c.(511-513)Tgt>Ggt p.C171G PCM1_uc003wyi.4_Missense_Mutation_p.C171G|PCM1_uc011kyh.2_Missense_Mutation_p.C171G|PCM1_uc003wyj.4_Missense_Mutation_p.C171G|PCM1_uc003wyg.2_Missense_Mutation_p.C171G|PCM1_uc003wyh.3_Missense_Mutation_p.C171G|PCM1_uc010lta.1_Missense_Mutation_p.C171G NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 171 G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) ATCAGCACAGTGTAAAGAGTT 0.443000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 36 21 0 0 0.001523 0 0 POGK 57645 broad.mit.edu 37 1 166818940 166818940 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:166818940G>A uc001gdt.1 + 4 1244 c.1124G>A c.(1123-1125)cGg>cAg p.R375Q POGK_uc010ple.1_Missense_Mutation_p.R290Q|POGK_uc010plf.1_Missense_Mutation_p.R257Q NM_017542 NP_060012 Q9P215 POGK_HUMAN Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA. 375 DDE. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 GTGCCATCACGGGTAACTGTT 0.527000 28 24 0 0 0.003954 0 0 ABI1 10006 broad.mit.edu 37 10 27052863 27052863 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:27052863C>T uc001isx.3 - 7 1071 c.847G>A c.(847-849)Gga>Aga p.G283R ABI1_uc001itb.3_Missense_Mutation_p.G300R|ABI1_uc001ite.3_Intron|ABI1_uc010qdh.2_Intron|ABI1_uc010qdi.2_Intron|ABI1_uc001itc.3_Intron|ABI1_uc001isy.3_Intron|ABI1_uc001itd.3_Intron|ABI1_uc010qdj.2_Intron|ABI1_uc001ita.3_Intron|ABI1_uc010qdk.2_Intron|ABI1_uc001isz.3_Intron|ABI1_uc010qdg.2_Intron NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA. 283 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGTGGAGCTCCAGAAGGAGGA 0.408000 63 22 0 0 0.004656 0 0 FLRT3 23767 broad.mit.edu 37 20 14307111 14307111 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:14307111G>A uc021war.1 - 0 1042 c.1042C>T c.(1042-1044)Ctc>Ttc p.L348F MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.L348F|FLRT3_uc002wow.2_Missense_Mutation_p.L348F NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA. 348 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TCTGCATTGAGATCCTTAATA 0.483000 48 23 0 0 0.002299 0 0 LRTM2 654429 broad.mit.edu 37 12 1943665 1943665 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:1943665G>A uc001qjt.2 + 4 1697 c.891G>A c.(889-891)caG>caA p.Q297Q CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.Q297Q|LRTM2_uc010sdx.1_Silent_p.Q297Q|LRTM2_uc001qjv.2_Silent_p.Q59Q NM_001039029 NP_001157398 Q8N967 LRTM2_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA. 297 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CACAGAAGCAGAGGCACCGGC 0.687000 31 16 0 0 0.004990 0 0 ZNF160 90338 broad.mit.edu 37 19 53572054 53572054 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53572054G>A uc010eqk.3 - 6 2149 c.1733C>T c.(1732-1734)tCa>tTa p.S578L ZNF160_uc002qaq.4_Missense_Mutation_p.S578L|ZNF160_uc002qar.4_Missense_Mutation_p.S578L NM_001102603 NP_942596 Q9HCG1 ZN160_HUMAN Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA. 578 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TGCAAGTTGTGATGTTTGAGC 0.403000 63 24 0 0 0.001512 0 0 OR11L1 391189 broad.mit.edu 37 1 248004498 248004498 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:248004498C>T uc001idn.1 - 0 701 c.701G>A c.(700-702)cGg>cAg p.R234Q NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R234Q(2) 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) GGTCTTTCTCCGGCCAGAGGT 0.502000 30 16 0 0 0.003163 0 0 ADAM18 8749 broad.mit.edu 37 8 39442827 39442827 + Missense_Mutation SNP C T T rs150907859 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:39442827C>T uc003xni.3 + 1 143 c.88C>T c.(88-90)Cca>Tca p.P30S ADAM18_uc003xnh.3_Missense_Mutation_p.P30S|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P30S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 30 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGTCACAGTTCCACGGAAGAT 0.343000 27 15 0 0 0.004990 0 0 SERPINA13 388007 broad.mit.edu 37 14 95109925 95109925 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:95109925G>A uc001ydt.3 + 2 962 c.874G>A c.(874-876)Gac>Aac p.D292N Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA. endometrium(1)|large_intestine(1)|lung(9)|skin(1) 12 CTTCCTGCACGACCGTGAGCT 0.582000 27 12 0 0 0.001368 0 0 GPR112 139378 broad.mit.edu 37 X 135427792 135427792 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:135427792G>A uc004ezu.1 + 5 2218 c.1927G>A c.(1927-1929)Gat>Aat p.D643N GPR112_uc010nsb.1_Missense_Mutation_p.D438N|GPR112_uc010nsc.1_Missense_Mutation_p.D410N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 643 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCCACAACTGATGAAGCTGC 0.498000 14 28 0 0 0.002096 0 0 ZFP3 124961 broad.mit.edu 37 17 4995531 4995531 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:4995531G>A uc002gaq.3 + 1 857 c.732G>A c.(730-732)caG>caA p.Q244Q ZFP3_uc021tog.1_Silent_p.Q244Q NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA. 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 TTCTACACCAGAGAATCCATA 0.383000 34 11 0 0 0.001855 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679618 160679618 + Missense_Mutation SNP C T T rs138397321 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:160679618C>T uc003qtf.3 - 0 346 c.172G>A c.(172-174)Gag>Aag p.E58K SLC22A2_uc003qth.2_Missense_Mutation_p.E58K NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 58 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) AGACTCAGCTCGGCCACTCCG 0.672000 43 13 0 0 0.001855 0 0 CYP2C8 1558 broad.mit.edu 37 10 96824703 96824703 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:96824703G>A uc001kkb.3 - 3 591 c.496C>T c.(496-498)Ccc>Tcc p.P166S CYP2C8_uc010qoa.2_Missense_Mutation_p.P96S|CYP2C8_uc010qoc.2_Missense_Mutation_p.P64S|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.P80S|CYP2C8_uc021pwl.1_Missense_Mutation_p.P96S|CYP2C8_uc010qod.1_Missense_Mutation_p.P80S NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 166 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding p.P166P(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) ATGAAAGTGGGATCACAGGGT 0.308000 54 20 0 0 0.001882 0 0 CPNE4 131034 broad.mit.edu 37 3 131261456 131261456 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:131261456C>T uc011blq.2 - 14 1648 c.1538G>A c.(1537-1539)gGa>gAa p.G513E CPNE4_uc003eok.3_Missense_Mutation_p.G495E|CPNE4_uc003eol.3_Missense_Mutation_p.G513E|CPNE4_uc003eom.3_Missense_Mutation_p.G495E|CPNE4_uc003eoj.3_Missense_Mutation_p.G46E NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 495 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 AACAGGCTCTCCCTTGGGTGA 0.517000 63 14 0 0 0.002450 0 0 BTN1A1 696 broad.mit.edu 37 6 26509342 26509342 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:26509342G>A uc003nif.4 + 6 1578 c.1521G>A c.(1519-1521)agG>agA p.R507R NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 507 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 CTGCCCCTAGGGATGCAGACA 0.527000 87 33 0 0 0.005524 0 0 EIF2C4 192670 broad.mit.edu 37 1 36292380 36292380 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:36292380G>A uc001bzj.2 + 6 982 c.792G>A c.(790-792)caG>caA p.Q264Q NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA. 264 PAZ. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACTGTGGACAGATGAAACGAA 0.343000 16 7 0 0 0.004482 0 0 MST1P2 11209 broad.mit.edu 37 1 16975495 16975495 + Splice_Site SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:16975495T>C uc009vox.3 + 4 c.1208_splice c.e4+1 MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. CTTGCGGAATTGGTGAGGCAC 0.612000 12 4 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179592541 179592541 + Missense_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179592541A>T uc021vsy.1 - 64 16257 c.16032T>A c.(16030-16032)gaT>gaA p.D5344E TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2005E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6271 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) CCACTGTAGAATCAGGTATGG 0.353000 51 22 0 0 0.001523 0 0 YTHDC2 64848 broad.mit.edu 37 5 112917322 112917322 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:112917322C>T uc003kqn.3 + 24 3765 c.3563C>T c.(3562-3564)cCt>cTt p.P1188L NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN Homo sapiens YTH domain containing 2 (YTHDC2), mRNA. 1188 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GAAGAGCTTCCTTTGGCCTCA 0.403000 15 8 0 0 0.004482 0 0 ANKS3 124401 broad.mit.edu 37 16 4774810 4774810 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:4774810G>A uc002cxj.2 - 5 809 c.514C>T c.(514-516)Ccc>Tcc p.P172S ANKS3_uc002cxi.2_Missense_Mutation_p.P99S|ANKS3_uc021tcj.1_Missense_Mutation_p.P43S|ANKS3_uc021tck.1_Missense_Mutation_p.P65S|ANKS3_uc002cxk.3_Missense_Mutation_p.P43S|ANKS3_uc010uxs.2_Missense_Mutation_p.P99S|ANKS3_uc002cxm.3_Intron NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA. 172 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 TCCATCAAGGGAGTAAATCCA 0.473000 21 11 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179542444 179542444 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179542444G>A uc021vsy.1 - 142 30688 c.30463C>T c.(30463-30465)Cct>Tct p.P10155S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6816S|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11082 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTCGGGAGGAACTTCCTCT 0.448000 55 28 0 0 0.007291 0 0 NPTX2 4885 broad.mit.edu 37 7 98257757 98257757 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:98257757G>A uc003upl.2 + 4 1289 c.1112G>A c.(1111-1113)gGg>gAg p.G371E NM_002523 NP_002514 P47972 NPTX2_HUMAN Homo sapiens neuronal pentraxin II (NPTX2), mRNA. 371 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCATTTGTCGGGGAGCTCAGC 0.572000 7 5 0 0 0.001168 0 0 THRB 7068 broad.mit.edu 37 3 24185134 24185134 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:24185134C>T uc003ccz.4 - 8 1116 c.596G>A c.(595-597)aGa>aAa p.R199K THRB_uc010hfe.3_Missense_Mutation_p.R199K|THRB_uc003ccy.4_Missense_Mutation_p.R199K|THRB_uc003ccx.4_Missense_Mutation_p.R199K NM_001252634 NP_001239563 P10828 THB_HUMAN Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA. 199 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TTCCCGCCGTCTTTTCTCCCG 0.572000 69 23 0 0 0.003954 0 0 OR8J1 219477 broad.mit.edu 37 11 56128428 56128428 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:56128428A>G uc010rjh.2 + 0 738 c.706A>G c.(706-708)Aaa>Gaa p.K236E NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA. 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K235T(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) AGGAAGGAAAAAAGCCTTTTC 0.353000 50 22 0 0 0.001523 0 0 C1orf106 55765 broad.mit.edu 37 1 200869306 200869306 + Silent SNP C T T rs34596202 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:200869306C>T uc001gvo.3 + 3 552 c.510C>T c.(508-510)atC>atT p.I170I C1orf106_uc010ppm.2_Silent_p.I85I NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 170 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GCCGCAGGATCGGAGCGGCTT 0.607000 25 38 0 0 0.002852 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016200 38016200 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:38016200C>T uc003gtb.3 + 2 846 c.488C>T c.(487-489)tCc>tTc p.S163F TBC1D1_uc011byd.2_Missense_Mutation_p.S163F|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.S34F NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA. 163 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CACTGCCCGTCCGAGTTCGAC 0.622000 68 41 0 0 0.002222 0 0 DRGX 644168 broad.mit.edu 37 10 50598203 50598203 + Missense_Mutation SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:50598203T>C uc010qgq.2 - 2 225 c.225A>G c.(223-225)atA>atG p.I75M DRGX_uc021pqd.1_Missense_Mutation_p.I70M NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 75 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 CTGTGAGGTTTATTTTCATGG 0.388000 20 5 0 0 0.001168 0 0 FCGR3B 2215 broad.mit.edu 37 1 161594380 161594380 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:161594380G>A uc009wul.3 - 4 995 c.735C>T c.(733-735)gtC>gtT p.V245V FCGR3B_uc021pdo.1_Silent_p.V209V NM_001244753 NP_001231682 O75015 FCG3B_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA. 209 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGCAGAAAGAGACTTGGTACC 0.433000 35 18 0 0 0.001882 0 0 ABLIM2 84448 broad.mit.edu 37 4 8098853 8098853 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:8098853G>A uc003gko.3 - 2 454 c.311C>T c.(310-312)cCc>cTc p.P104L ABLIM2_uc003gkm.4_Missense_Mutation_p.P104L|ABLIM2_uc003gkp.3_Missense_Mutation_p.P104L|ABLIM2_uc003gkq.3_Missense_Mutation_p.P104L|ABLIM2_uc003gkr.3_Missense_Mutation_p.P104L|ABLIM2_uc003gkj.4_Missense_Mutation_p.P104L|ABLIM2_uc003gks.3_Missense_Mutation_p.P104L|ABLIM2_uc011bwl.1_Missense_Mutation_p.P109L NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 104 LIM zinc-binding 2. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GAAGCAGTCGGGGTGGTAGGT 0.637000 7 3 0 0 0.000248 0 0 MTMR8 55613 broad.mit.edu 37 X 63574714 63574714 + Silent SNP C G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:63574714C>G uc004dvs.3 - 3 501 c.411G>C c.(409-411)ggG>ggC p.G137G MTMR8_uc011mou.2_Silent_p.G137G NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN Homo sapiens myotubularin related protein 8 (MTMR8), mRNA. 137 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 TTCCCATACGCCCAAAGTCTG 0.378000 8 15 0 0 0.003163 0 0 LFNG 3955 broad.mit.edu 37 7 2565089 2565089 + Missense_Mutation SNP G C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:2565089G>C uc003smf.3 + 3 640 c.623G>C c.(622-624)cGg>cCg p.R208P LFNG_uc021zyw.1_Missense_Mutation_p.R137P|LFNG_uc021zyx.1_Missense_Mutation_p.R79P|LFNG_uc003smg.3_Missense_Mutation_p.R208P|MIR4648_uc021zyy.1_5'Flank NM_001040167 NP_001035257 Q8NES3 LFNG_HUMAN Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA. 208 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) GTCAACCTGCGGGCCCTGCTG 0.701000 19 10 0 0 0.000673 0 0 PREX2 80243 broad.mit.edu 37 8 69046410 69046410 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:69046410G>A uc003xxv.1 + 31 3910 c.3883G>A c.(3883-3885)Gaa>Aaa p.E1295K NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1295 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CAACAGCAAGGAAAATGAGAT 0.498000 54 24 0 0 0.003954 0 0 LOC285501 285501 broad.mit.edu 37 4 178881990 178881990 + RNA SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:178881990G>A uc010iru.3 + 2 c.449G>A Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA. all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236) all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884) GGGATCAAAAGAATCCACATC 0.338000 58 24 0 0 0.002780 0 0 OR5D18 219438 broad.mit.edu 37 11 55587134 55587134 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55587134G>A uc010rin.2 + 0 29 c.29G>A c.(28-30)gGg>gAg p.G10E NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) AATACAAGTGGGACCACGTTC 0.423000 20 23 0 0 0.002780 0 0 FBXO6 26270 broad.mit.edu 37 1 11731999 11731999 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:11731999C>T uc001aso.3 + 3 594 c.428C>T c.(427-429)tCc>tTc p.S143F NM_018438 NP_060908 Q9NRD1 FBX6_HUMAN Homo sapiens F-box protein 6 (FBXO6), mRNA. 143 FBA. SQ -> WE (in Ref. 1; AAF04470). DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|response to unfolded protein SCF ubiquitin ligase complex|cytoplasm glycoprotein binding breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 6 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TGCCTCAAGTCCCAGCTGGTG 0.627000 18 4 0 0 0.000248 0 0 FLT1 2321 broad.mit.edu 37 13 28919657 28919657 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:28919657G>A uc001usb.3 - 15 2565 c.2280C>T c.(2278-2280)atC>atT p.I760I FLT1_uc001usa.3_5'UTR NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 760 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway Golgi apparatus|extracellular space|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ATGTTAGAGTGATCAGCTCCA 0.413000 14 7 0 0 0.003080 0 0 CDS1 1040 broad.mit.edu 37 4 85530642 85530642 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:85530642G>A uc011ccv.2 + 2 804 c.306G>A c.(304-306)ctG>ctA p.L102L NM_001263 NP_001254 Q92903 CDS1_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA. 102 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity p.L102L(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) TGTTTTTCCTGATCATCTATA 0.343000 72 25 0 0 0.005443 0 0 CD5L 922 broad.mit.edu 37 1 157805633 157805633 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:157805633G>A uc001frk.4 - 2 511 c.368C>T c.(367-369)tCg>tTg p.S123L NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 123 SRCR 1. 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) ACTCTCACACGATGCCCCAGC 0.502000 62 76 0 0 0.003610 0 0 NARS2 79731 broad.mit.edu 37 11 78147748 78147748 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:78147748A>G uc001ozi.3 - 13 1778 c.1402T>C c.(1402-1404)Ttc>Ctc p.F468L NARS2_uc010rsq.2_Missense_Mutation_p.F241L NM_024678 NP_001230180 Q96I59 SYNM_HUMAN Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 468 asparaginyl-tRNA aminoacylation mitochondrial matrix ATP binding|asparagine-tRNA ligase activity|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) AACCTTGGGAAAGGGATAACA 0.463000 138 63 0 0 0.003610 0 0 ITPR2 3709 broad.mit.edu 37 12 26868318 26868318 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:26868318C>T uc001rhg.3 - 7 1186 c.769G>A c.(769-771)Gag>Aag p.E257K NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 257 MIR 3. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGTTTTTTCTCATATTCATCA 0.393000 69 21 0 0 0.001523 0 0 ODZ2 57451 broad.mit.edu 37 5 167675128 167675128 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:167675128G>A uc010jjd.3 + 26 7157 c.7157G>A c.(7156-7158)gGg>gAg p.G2386E ODZ2_uc003lzr.4_Missense_Mutation_p.G2156E|ODZ2_uc003lzt.4_Missense_Mutation_p.G1759E|ODZ2_uc010jje.3_Missense_Mutation_p.G1650E NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ACGGCCTATGGGGAGATTTAT 0.532000 98 45 0 0 0.003610 0 0 REPIN1 29803 broad.mit.edu 37 7 150069663 150069663 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:150069663C>T uc022apt.1 - 0 371 c.3G>A c.(1-3)atG>atA p.M1I REPIN1_uc003whd.2_Missense_Mutation_p.H434Y|REPIN1_uc010lpq.1_Missense_Mutation_p.H445Y|REPIN1_uc010lpr.1_Missense_Mutation_p.H502Y|REPIN1_uc003whc.2_Missense_Mutation_p.H445Y|REPIN1_uc003whe.2_Missense_Mutation_p.H445Y Q9BWE0 REPI1_HUMAN Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135). 0 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) CCAGGGCAGCCATCTGGCGGC 0.726000 5 6 0 0 0.003080 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33408710 33408710 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:33408710C>T uc011dri.2 + 10 2076 c.1881C>T c.(1879-1881)gcC>gcT p.A627A SYNGAP1_uc010juy.3_Silent_p.A612A|SYNGAP1_uc010juz.3_Silent_p.A339A NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. 627 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CCCTCATTGCCAAGGTCATCC 0.602000 18 7 0 0 0.001984 0 0 MCHR2 84539 broad.mit.edu 37 6 100368967 100368967 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:100368967G>A uc003pqh.1 - 5 1187 c.872C>T c.(871-873)tCc>tTc p.S291F MCHR2_uc003pqi.1_Missense_Mutation_p.S291F NM_001040179 NP_115892 Q969V1 MCHR2_HUMAN Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA. 291 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GAGACAGATGGAGAGGTAATA 0.468000 44 23 0 0 0.003330 0 0 FILIP1 27145 broad.mit.edu 37 6 76022919 76022919 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:76022919C>T uc010kbe.3 - 5 3168 c.2638G>A c.(2638-2640)Gaa>Aaa p.E880K FILIP1_uc003phy.1_Missense_Mutation_p.E877K|FILIP1_uc003phz.3_Missense_Mutation_p.E778K|FILIP1_uc003pia.3_Missense_Mutation_p.E877K|FILIP1_uc003pib.1_Missense_Mutation_p.E629K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 877 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GGGCCGTTTTCCCTCTTTCTC 0.522000 48 24 0 0 0.002780 0 0 PDE1C 5137 broad.mit.edu 37 7 31904603 31904603 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:31904603C>T uc003tcm.2 - 6 1164 c.703G>A c.(703-705)Gat>Aat p.D235N PDE1C_uc003tcn.1_Missense_Mutation_p.D235N|PDE1C_uc003tco.2_Missense_Mutation_p.D295N|PDE1C_uc003tcr.3_Missense_Mutation_p.D235N|PDE1C_uc003tcs.3_Missense_Mutation_p.D235N NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 235 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.D235N(3)|p.A234V(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGTGTAACATCGGCAGCGTGC 0.453000 36 28 0 0 0.005443 0 0 DPPA2 151871 broad.mit.edu 37 3 109019260 109019260 + Missense_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:109019260A>T uc003dxo.3 - 7 1124 c.877T>A c.(877-879)Tta>Ata p.L293I NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA. 293 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTGTCATTAATCTTTTCATC 0.338000 61 35 0 0 0.005524 0 0 VNN2 8875 broad.mit.edu 37 6 133072331 133072331 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:133072331C>T uc003qdt.3 - 4 1164 c.1153G>A c.(1153-1155)Gga>Aga p.G385R VNN2_uc003qds.3_Missense_Mutation_p.G94R|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.G332R NM_004665 NP_004656 O95498 VNN2_HUMAN Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA. 385 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) GTAAAAGCTCCTAGAACGTAT 0.378000 60 32 0 0 0.002096 0 0 GUCY2F 2986 broad.mit.edu 37 X 108708565 108708565 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:108708565G>A uc022cch.1 - 1 923 c.838C>T c.(838-840)Cct>Tct p.P280S GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.P280S NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 280 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GCATCATAAGGAACAAAGACG 0.473000 21 43 0 0 0.003214 0 0 LIN7A 8825 broad.mit.edu 37 12 81205420 81205420 + Missense_Mutation SNP T G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:81205420T>G uc001szj.1 - 4 719 c.526A>C c.(526-528)Aag>Cag p.K176Q LIN7A_uc001szk.1_Non-coding_Transcript NM_004664 NP_004655 O14910 LIN7A_HUMAN Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA. 176 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 TTAGCAGCCTTGAGTAGTTCC 0.478000 47 21 0 0 0.002780 0 0 ODZ3 55714 broad.mit.edu 37 4 183713602 183713602 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:183713602C>T uc003ivd.1 + 24 5852 c.5777C>T c.(5776-5778)aCg>aTg p.T1926M NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1926 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TCCATCATCACGGACTACAAC 0.512000 27 11 0 0 0.001368 0 0 MYOCD 93649 broad.mit.edu 37 17 12639554 12639554 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:12639554G>A uc002gno.2 + 5 791 c.492G>A c.(490-492)ccG>ccA p.P164P MYOCD_uc002gnn.2_Silent_p.P164P|MYOCD_uc002gnp.1_Silent_p.P68P NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 164 HDAC5-binding (By similarity). cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding p.P164P(3) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GGCTTTCTCCGGATCAGACTC 0.547000 103 50 0 0 0.003610 0 0 DPP6 1804 broad.mit.edu 37 7 154672628 154672628 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:154672628G>A uc003wlk.3 + 20 2238 c.2109G>A c.(2107-2109)agG>agA p.R703R DPP6_uc003wli.3_Silent_p.R639R|DPP6_uc003wlm.3_Silent_p.R641R|DPP6_uc011kvq.2_Silent_p.R596R NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 703 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.A702T(1) 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) ACATTGACAGGACGCGCGTGG 0.572000 31 13 0 0 0.001855 0 0 TPTE 7179 broad.mit.edu 37 21 10951345 10951345 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:10951345G>A uc002yip.1 - 9 735 c.367C>T c.(367-369)Cct>Tct p.P123S TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P105S|TPTE_uc002yir.1_Missense_Mutation_p.P85S|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 123 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.M121_D122>IY(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACTCCAAAGGAATATAAAGT 0.323000 114 17 0 0 0.001216 0 0 LOC729020 729020 broad.mit.edu 37 10 105005966 105005966 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:105005966G>A uc009xxi.2 + 0 323 c.213G>A c.(211-213)atG>atA p.M71I BC040734_uc001kwr.3_Intron NM_001143909 NP_001137381 Q2QD12 Q2QD12_HUMAN Homo sapiens rcRPE (LOC729020), mRNA. 71 carbohydrate metabolic process ribulose-phosphate 3-epimerase activity ACATGCACATGATGGTGTCCA 0.493000 55 30 0 0 0.007291 0 0 PACSIN2 11252 broad.mit.edu 37 22 43287005 43287005 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:43287005G>A uc010gzg.3 - 3 623 c.401C>T c.(400-402)gCt>gTt p.A134V PACSIN2_uc003bdg.4_Missense_Mutation_p.A134V|PACSIN2_uc003bdf.4_Missense_Mutation_p.A134V NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA. 134 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) GCCGTCCTCAGCTTCCTTGGT 0.557000 17 12 0 0 0.001855 0 0 SERPINB3 6317 broad.mit.edu 37 18 61324516 61324516 + Missense_Mutation SNP A C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:61324516A>C uc002lji.3 - 5 744 c.600T>G c.(598-600)ttT>ttG p.F200L SERPINB3_uc002ljg.3_Missense_Mutation_p.F200L|SERPINB3_uc010dqa.3_Missense_Mutation_p.F200L NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 200 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 TGTTTGGCCAAAATTTTTCCT 0.279000 30 6 0 0 0.001168 0 0 MED13 9969 broad.mit.edu 37 17 60030396 60030396 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:60030396G>A uc002izo.3 - 26 6124 c.6047C>T c.(6046-6048)cCt>cTt p.P2016L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN Homo sapiens mediator complex subunit 13 (MED13), mRNA. 2016 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGAGAAGCAGGAAGGATATT 0.418000 21 45 0 0 0.003610 0 0 ACTRT1 139741 broad.mit.edu 37 X 127186107 127186107 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:127186107C>T uc004eum.3 - 0 276 c.79G>A c.(79-81)Gga>Aga p.G27R NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN Homo sapiens actin-related protein T1 (ACTRT1), mRNA. 27 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CCAATCTCTCCAGACAGGCCT 0.443000 6 24 0 0 0.003330 0 0 TSPYL2 64061 broad.mit.edu 37 X 53117121 53117121 + Nonstop_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:53117121A>T uc004drw.3 + 6 2221 c.2082A>T c.(2080-2082)taA>taT p.*694Y TSPYL2_uc004drv.3_3'UTR NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN Homo sapiens TSPY-like 2 (TSPYL2), mRNA. 0 cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 AAACCGGATAAGGGTTTTCCC 0.572000 OREG0019795 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 19 0 0 0.002299 0 0 ZNF300 91975 broad.mit.edu 37 5 150276484 150276484 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:150276484G>A uc021yfx.1 - 6 793 c.365C>T c.(364-366)tCc>tTc p.S122F ZNF300_uc021yfy.1_Missense_Mutation_p.S106F|ZNF300_uc021yfz.1_Missense_Mutation_p.S70F NM_001172831 NP_001166303 Q96RE9 ZN300_HUMAN Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA. 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGATGGAAGGAAACTGTCCC 0.388000 35 19 0 0 0.001523 0 0 NBPF10 100132406 broad.mit.edu 37 1 145301786 145301786 + Missense_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:145301786A>T uc021oul.1 + 6 1090 c.1055A>T c.(1054-1056)aAg>aTg p.K352M NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.K352M|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.K81M|NBPF10_uc021oum.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 352 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) AAGGAGGAGAAGCTTGCAGAG 0.517000 384 22 0 0 0.004878 0 0 ADSS 159 broad.mit.edu 37 1 244583515 244583515 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:244583515G>A uc001iaj.3 - 7 1064 c.747C>T c.(745-747)atC>atT p.I249I NM_001126 NP_001117 P30520 PURA2_HUMAN Homo sapiens adenylosuccinate synthase (ADSS), mRNA. 249 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CTTCTACCAAGATTTTCTTTG 0.353000 33 22 0 0 0.002299 0 0 PCCA 5095 broad.mit.edu 37 13 100925546 100925546 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:100925546C>T uc001voo.3 + 11 1117 c.1011C>T c.(1009-1011)ttC>ttT p.F337F PCCA_uc010aga.3_Silent_p.F311F|PCCA_uc010tiz.2_Silent_p.F337F NM_000282 NP_000273 P05165 PCCA_HUMAN Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 337 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) CCGTGGAGTTCCTTGTGGACT 0.423000 18 4 0 0 0.000248 0 0 DPRX 503834 broad.mit.edu 37 19 54137815 54137815 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:54137815G>A uc002qcf.1 + 1 110 c.59G>A c.(58-60)cGa>cAa p.R20Q NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN Homo sapiens divergent-paired related homeobox (DPRX), mRNA. 20 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CACAGGAAACGAACCATGTTC 0.433000 44 25 0 0 0.003954 0 0 GALNT5 11227 broad.mit.edu 37 2 158142569 158142569 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:158142569C>T uc002tzg.3 + 2 1919 c.1664C>T c.(1663-1665)cCa>cTa p.P555L GALNT5_uc010zci.2_Non-coding_Transcript NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA. 555 Catalytic subdomain A. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TCCCAGTTTCCAAAAGTTCGG 0.378000 14 13 0 0 0.001855 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174830 150174830 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:150174830G>A uc003whj.3 + 4 2290 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 654 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTCCCAAGCCGAAAAACTCCT 0.463000 29 21 0 0 0.001882 0 0 SALL1 6299 broad.mit.edu 37 16 51174276 51174276 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:51174276G>A uc021tif.1 - 1 1888 c.1566C>T c.(1564-1566)ccC>ccT p.P522P SALL1_uc021tid.1_Silent_p.P522P|SALL1_uc021tie.1_Silent_p.P619P|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 619 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGCCACCAGAGGGTGGCAGAG 0.652000 29 18 0 0 0.001216 0 0 DENND2A 27147 broad.mit.edu 37 7 140301463 140301463 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:140301463C>T uc010lnk.3 - 2 1255 c.735G>A c.(733-735)cgG>cgA p.R245R DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.R245R|DENND2A_uc003vvw.3_Silent_p.R245R|DENND2A_uc003vvx.3_Silent_p.R245R NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 245 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TCTCAAGGCTCCGGTCCCAGG 0.602000 92 55 0 0 0.003610 0 0 STAP1 26228 broad.mit.edu 37 4 68472054 68472054 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:68472054G>A uc003hde.4 + 8 949 c.867G>A c.(865-867)aaG>aaA p.K289K STAP1_uc003hdf.3_Silent_p.K289K NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA. 289 cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 AAAAGTTGAAGAAAAATCCAC 0.328000 20 11 0 0 0.001368 0 0 ZNF587 84914 broad.mit.edu 37 19 58371159 58371159 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:58371159G>A uc002qql.3 + 2 1605 c.1379G>A c.(1378-1380)gGa>gAa p.G460E ZNF587_uc002qqb.2_Missense_Mutation_p.G417E|ZNF587_uc002qqi.2_Missense_Mutation_p.G417E|ZNF587_uc010yhh.2_Missense_Mutation_p.G417E|ZNF587_uc021vco.1_Missense_Mutation_p.G460E|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Missense_Mutation_p.G459E|ZNF587_uc021vcq.1_5'Flank NM_032828 NP_116217 Q96SQ5 ZN587_HUMAN Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA. 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) GTTCACACTGGAGAAAGGCCA 0.428000 74 23 0 0 0.003330 0 0 TMEM104 54868 broad.mit.edu 37 17 72815909 72815909 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:72815909C>T uc002jls.4 + 8 819 c.657C>T c.(655-657)ctC>ctT p.L219L TMEM104_uc010wrf.1_Silent_p.L219L|TMEM104_uc010wrg.1_Silent_p.L232L|TMEM104_uc010dfx.3_Silent_p.L219L NM_017728 NP_060198 Q8NE00 TM104_HUMAN Homo sapiens transmembrane protein 104 (TMEM104), mRNA. 219 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) CTCTCCTCCTCGGACCGTTCA 0.567000 13 35 0 0 0.005524 0 0 SLC6A12 6539 broad.mit.edu 37 12 306045 306045 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:306045G>A uc001qhz.3 - 11 1743 c.1079C>T c.(1078-1080)cCt>cTt p.P360L SLC6A12_uc001qhy.3_Intron|SLC6A12_uc001qia.3_Missense_Mutation_p.P360L|SLC6A12_uc001qib.3_Missense_Mutation_p.P360L|SLC6A12_uc009zdh.2_Missense_Mutation_p.P360L NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 360 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GGCCAGCCCAGGACCTGCCAG 0.577000 25 15 0 0 0.003163 0 0 SPOCK3 50859 broad.mit.edu 37 4 167713375 167713375 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:167713375C>T uc011cjq.1 - 5 748 c.691G>A c.(691-693)Gaa>Aaa p.E231K SPOCK3_uc021xuf.1_Missense_Mutation_p.E222K|SPOCK3_uc011cjr.1_Missense_Mutation_p.E102K|SPOCK3_uc003iri.1_Missense_Mutation_p.E222K|SPOCK3_uc011cjs.1_Missense_Mutation_p.E171K|SPOCK3_uc003irj.1_Missense_Mutation_p.E219K|SPOCK3_uc011cjt.1_Missense_Mutation_p.E130K|SPOCK3_uc011cjp.2_Intron|SPOCK3_uc011cju.1_Missense_Mutation_p.E126K|SPOCK3_uc011cjv.1_Missense_Mutation_p.E124K|SPOCK3_uc003irk.4_Missense_Mutation_p.E219K NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 222 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CTTCCACTTTCATGAAGGGCC 0.403000 33 12 0 0 0.001368 0 0 SLC38A3 10991 broad.mit.edu 37 3 50256311 50256311 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:50256311G>A uc003cyn.4 + 13 1375 c.1234G>A c.(1234-1236)Ggc>Agc p.G412S NM_006841 NP_006832 Q99624 S38A3_HUMAN Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA. 413 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) TATTGCCGTTGGCCTGCTCAC 0.587000 31 7 0 0 0.003080 0 0 GBE1 2632 broad.mit.edu 37 3 81586211 81586211 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:81586211G>A uc021xav.1 - 12 1936 c.1654C>T c.(1654-1656)Cca>Tca p.P552S GBE1_uc021xax.1_Missense_Mutation_p.P511S NM_000158 NP_000149 Q04446 GLGB_HUMAN Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA. 552 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) CCTTTTCTTGGGAAGTCTAAC 0.348000 Glycogen Storage Disease, type IV 10 5 0 0 0.001984 0 0 OR2T33 391195 broad.mit.edu 37 1 248436957 248436957 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:248436957G>A uc010pzi.2 - 0 160 c.160C>T c.(160-162)Cac>Tac p.H54Y NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA. 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGGGCGTGTGGAGCCGGTGG 0.527000 58 13 0 0 0.001882 0 0 APLNR 187 broad.mit.edu 37 11 57004463 57004463 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:57004463C>T uc001njo.3 - 0 465 c.16G>A c.(16-18)Gat>Aat p.D6N APLNR_uc001njn.4_Non-coding_Transcript NM_005161 NP_005152 P35414 APJ_HUMAN Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA. 6 integral to plasma membrane G-protein coupled receptor activity p.D6N(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TTGTCAAAATCACCACCTTCC 0.562000 32 17 0 0 0.007413 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870954 51870954 + Silent SNP G T T rs45562541 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:51870954G>T uc002xwo.3 + 1 1844 c.957G>T c.(955-957)ccG>ccT p.P319P TSHZ2_uc021wex.1_Silent_p.P316P NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 319 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P319L(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGGTCACCCCGGCTAAGAAAC 0.458000 59 23 2.21704e-12 4.33143e-12 0.002780 1 0 KRCC1 51315 broad.mit.edu 37 2 88327609 88327609 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:88327609C>T uc002sso.1 - 3 868 c.474G>A c.(472-474)caG>caA p.Q158Q KRCC1_uc002ssp.1_Silent_p.Q158Q|KRCC1_uc021vko.1_Silent_p.Q158Q NM_016618 NP_057702 Q9NPI7 KRCC1_HUMAN Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA. 158 Lys-rich. cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 TTTTCCTCTTCTGATGTATCT 0.423000 70 33 0 0 0.002096 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140710915 140710915 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140710915C>T uc003lji.2 + 0 664 c.664C>T c.(664-666)Cgt>Tgt p.R222C PCDHGC5_uc011dan.2_Missense_Mutation_p.R222C NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 222 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R222H(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACCAGTCCGTTCAGGGAC 0.493000 23 23 0 0 0.003330 0 0 CSE1L 1434 broad.mit.edu 37 20 47705915 47705915 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:47705915C>T uc002xty.3 + 17 2087 c.1953C>T c.(1951-1953)atC>atT p.I651I CSE1L_uc010zyg.2_Silent_p.I434I|CSE1L_uc010ghx.3_Silent_p.I595I|CSE1L_uc010ghy.3_Silent_p.I272I|CSE1L_uc010zyh.2_Silent_p.I300I NM_001316 NP_001307 P55060 XPO2_HUMAN Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA. 651 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TTACTGAAATCTTACAAAATG 0.343000 24 10 0 0 0.000673 0 0 EXTL3 2137 broad.mit.edu 37 8 28574593 28574593 + Silent SNP G C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:28574593G>C uc003xgz.1 + 2 1610 c.1017G>C c.(1015-1017)cgG>cgC p.R339R NM_001440 NP_001431 O43909 EXTL3_HUMAN Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA. 339 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CGGTGAAGCGGAAATATCTCT 0.562000 27 22 0 0 0.005443 0 0 TNR 7143 broad.mit.edu 37 1 175332856 175332856 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:175332856G>A uc001gkp.1 - 10 2776 c.2695C>T c.(2695-2697)Cga>Tga p.R899* TNR_uc009wwu.1_Nonsense_Mutation_p.R899* NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 899 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.R899*(2) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TGGGTGGGTCGATATGATACT 0.448000 58 44 0 0 0.003214 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242404 87242405 + Missense_Mutation DNP GG AA AA TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:87242404_87242405GG>AA uc003ydq.1 - 0 200_201 c.102_103CC>TT c.(100-105)tccccc>tcTTcc p.P35S SLC7A13_uc003ydr.1_Missense_Mutation_p.P35S NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA. 35 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ACACCTTTGGGGGACACAAAAA 0.470000 42 30 0 0 0.004672 0 0 SLC9A9 285195 broad.mit.edu 37 3 143371183 143371183 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:143371183G>A uc003evn.3 - 5 878 c.669C>T c.(667-669)ttC>ttT p.F223F SLC9A9_uc011bnk.2_Silent_p.F97F NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA. 223 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 GCAGTTCATGGAAAATGGCCA 0.473000 8 5 0 0 0.001168 0 0 DYSF 8291 broad.mit.edu 37 2 71791275 71791275 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:71791275C>T uc010fen.3 + 23 2638 c.2497C>T c.(2497-2499)Ctc>Ttc p.L833F DYSF_uc010fei.3_Missense_Mutation_p.L832F|DYSF_uc010feh.3_Missense_Mutation_p.L801F|DYSF_uc002sig.4_Missense_Mutation_p.L801F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.L846F|DYSF_uc010fee.3_Missense_Mutation_p.L815F|DYSF_uc010fef.3_Missense_Mutation_p.L832F|DYSF_uc002sie.3_Missense_Mutation_p.L815F|DYSF_uc010feo.3_Missense_Mutation_p.L847F|DYSF_uc010fej.3_Missense_Mutation_p.L802F|DYSF_uc010fel.3_Missense_Mutation_p.L802F|DYSF_uc010fem.3_Missense_Mutation_p.L816F|DYSF_uc002sif.3_Missense_Mutation_p.L816F|DYSF_uc010fek.3_Missense_Mutation_p.L833F NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 815 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CCACCAAGTCCTCTTCTCCCG 0.547000 53 20 0 0 0.001523 0 0 PIWIL2 55124 broad.mit.edu 37 8 22175740 22175740 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:22175740G>A uc003xbn.2 + 19 2503 c.2355G>A c.(2353-2355)gtG>gtA p.V785V PIWIL2_uc011kzf.1_Silent_p.V785V|PIWIL2_uc010ltv.2_Silent_p.V785V NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA. 785 Piwi. DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) AGGAGATTGTGGACAGCCTGA 0.463000 107 43 0 0 0.003610 0 0 LTBP3 4054 broad.mit.edu 37 11 65309086 65309086 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:65309086G>A uc001oej.3 - 18 2979 c.2710C>T c.(2710-2712)Cag>Tag p.Q904* LTBP3_uc001oef.3_5'UTR|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Nonsense_Mutation_p.Q334*|LTBP3_uc010roi.2_Nonsense_Mutation_p.Q787*|LTBP3_uc001oei.3_Nonsense_Mutation_p.Q904*|LTBP3_uc010roj.2_Nonsense_Mutation_p.Q605*|LTBP3_uc010rok.1_Nonsense_Mutation_p.Q815* NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA. 904 EGF-like 9; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CAACCGTGCTGGTCCTGGGTG 0.632000 51 4 0 0 0.000248 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50455651 50455651 + Splice_Site SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:50455651C>T uc010ybh.2 - 9 1743 c.1652_splice c.e9-1 p.G551_splice SIGLEC11_uc010ybi.2_Splice_Site_p.W455_splice NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 551 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CTCCAGCTTCCCTGCATGGGA 0.637000 24 17 0 0 0.004007 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37451769 37451769 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:37451769G>A uc021ppc.1 + 16 1926 c.1827G>A c.(1825-1827)ttG>ttA p.L609L ANKRD30A_uc001iza.1_Silent_p.L609L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 665 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.T608T(1) 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 AACAAACATTGAGAGCAGGTA 0.328000 50 25 0 0 0.002780 0 0 ZNF816 125893 broad.mit.edu 37 19 53454451 53454451 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53454451G>A uc002qal.2 - 4 928 c.577C>T c.(577-579)Caa>Taa p.Q193* ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Nonsense_Mutation_p.Q193*|ZNF816_uc002qam.2_Nonsense_Mutation_p.Q193* NM_001031665 NP_001189386 Q0VGE8 ZN816_HUMAN Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA. 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 GAAATTCTTTGGGATTCTGAA 0.378000 40 26 0 0 0.003330 0 0 OR4M2 390538 broad.mit.edu 37 15 22368758 22368758 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:22368758C>T uc010tzu.2 + 0 281 c.183C>T c.(181-183)ttC>ttT p.F61F abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTATGTATTTCCTGTTGGCTA 0.388000 140 64 0 0 0.003610 0 0 LIMCH1 22998 broad.mit.edu 37 4 41621205 41621205 + Splice_Site SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:41621205G>A uc003gvz.4 + 6 623 c.206_splice c.e6-1 p.G69_splice LIMCH1_uc003gvt.1_Splice_Site_p.G69_splice|LIMCH1_uc003gwe.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvu.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvv.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvw.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvx.4_Splice_Site_p.G228_splice|LIMCH1_uc003gvy.4_Splice_Site_p.G69_splice|LIMCH1_uc003gwa.4_Splice_Site_p.G69_splice|LIMCH1_uc011byu.2_Splice_Site_p.G74_splice|LIMCH1_uc003gwc.4_Splice_Site_p.G74_splice|LIMCH1_uc003gwd.4_Splice_Site_p.G74_splice|LIMCH1_uc011byv.2_Splice_Site|LIMCH1_uc003gwb.1_Splice_Site_p.G76_splice NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 228 CH. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TCTTCCCTAGGGAGAGGAAGC 0.507000 183 88 0 0 0.003610 0 0 RAB40C 57799 broad.mit.edu 37 16 677562 677562 + Silent SNP C T T rs139898602 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:677562C>T uc021szt.1 + 6 1008 c.786C>T c.(784-786)tcC>tcT p.S262S RAB40C_uc021szu.1_Silent_p.S262S|RAB40C_uc021szv.1_Silent_p.S262S|RAB40C_uc002chq.3_Silent_p.S243S|RAB40C_uc002chr.3_Silent_p.S262S|AK128777_uc002chs.1_5'Flank NM_001172663 NP_066991 Q96S21 RB40C_HUMAN Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA. 262 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) GGTCCAAGTCCATCCGTCCAC 0.682000 32 23 0 0 0.005443 0 0 TRPM6 140803 broad.mit.edu 37 9 77377626 77377626 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:77377626C>T uc004ajl.1 - 25 4199 c.3961G>A c.(3961-3963)Gaa>Aaa p.E1321K TRPM6_uc004ajk.1_Missense_Mutation_p.E1316K|TRPM6_uc022bib.1_Missense_Mutation_p.E1316K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.E277K NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1321 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTTTGTGTTTCTTGCCTTTCC 0.473000 79 52 0 0 0.003610 0 0 REV3L 5980 broad.mit.edu 37 6 111688351 111688351 + Missense_Mutation SNP G T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:111688351G>T uc003puy.4 - 13 6981 c.6640C>A c.(6640-6642)Cct>Act p.P2214T REV3L_uc003pux.4_Missense_Mutation_p.P2136T|REV3L_uc003puz.4_Missense_Mutation_p.P2136T|REV3L_uc003pva.1_Non-coding_Transcript NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 2214 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GGTGCTTCAGGAAGCCTTTCC 0.373000 DNA polymerases (catalytic subunits) 30 28 2.61193e-14 5.1097e-14 0.001786 1 0 COL4A5 1287 broad.mit.edu 37 X 107821328 107821328 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:107821328C>T uc022ccg.1 + 11 868 c.666C>T c.(664-666)ttC>ttT p.F222F COL4A5_uc004enz.1_Silent_p.F222F NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 222 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GCTTAAATTTCCAGGGACCCA 0.363000 Alport syndrome with Diffuse Leiomyomatosis 3 17 0 0 0.007413 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147032 55147032 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:55147032G>A uc003pcl.3 + 6 1430 c.1115G>A c.(1114-1116)cGa>cAa p.R372Q HCRTR2_uc010jzv.3_Non-coding_Transcript NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 372 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GGAAAATTTCGAGAGGAATTT 0.453000 18 7 0 0 0.001984 0 0 DCDC5 100506627 broad.mit.edu 37 11 30928159 30928159 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:30928159G>A uc009yjk.1 - 17 2445 c.2376C>T c.(2374-2376)ttC>ttT p.F792F DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.F451F|DCDC5_uc009yjj.2_Non-coding_Transcript NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 423 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 AAATACAGAGGAATGGAACCC 0.463000 15 5 0 0 0.001168 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659497 63659497 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:63659497G>A uc010lyq.1 + 3 412 c.280G>A c.(280-282)Gat>Aat p.D94N NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA. 94 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CTAGGACACCGATCTAATGAC 0.448000 30 10 0 0 0.000978 0 0 SCN9A 6335 broad.mit.edu 37 2 167060472 167060472 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:167060472G>A uc010fpl.3 - 25 5075 c.4734C>T c.(4732-4734)tcC>tcT p.S1578S BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1589 voltage-gated sodium channel complex voltage-gated sodium channel activity p.S1578F(1) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TACCTACAATGGAGATAATCA 0.323000 7 5 0 0 0.001168 0 0 MLLT4 4301 broad.mit.edu 37 6 168281154 168281154 + Missense_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:168281154A>T uc021zik.1 + 5 1050 c.731A>T c.(730-732)tAt>tTt p.Y244F MLLT4_uc003qwb.1_Missense_Mutation_p.Y284F|MLLT4_uc003qwc.2_Missense_Mutation_p.Y285F|MLLT4_uc021zij.1_Missense_Mutation_p.Y284F|MLLT4_uc003qwf.3_5'UTR NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 285 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTAGAGAAGTATGGTCTGGAA 0.378000 T MLL AL 116 62 0 0 0.003610 0 0 LIMK2 3985 broad.mit.edu 37 22 31655116 31655116 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:31655116G>A uc003akh.3 + 3 407 c.262G>A c.(262-264)Gag>Aag p.E88K LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.E67K|LIMK2_uc003akk.3_Missense_Mutation_p.E67K|LIMK2_uc011aln.2_Missense_Mutation_p.E5K NM_005569 NP_005560 P53671 LIMK2_HUMAN Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA. 88 LIM zinc-binding 2. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GGTGGCTGGGGAGTTCAAGTA 0.547000 35 21 0 0 0.003954 0 0 LGR6 59352 broad.mit.edu 37 1 202245493 202245493 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:202245493C>T uc001gxu.3 + 4 488 c.488C>T c.(487-489)tCc>tTc p.S163F LGR6_uc001gxv.3_Missense_Mutation_p.S111F|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Intron|LGR6_uc009xac.1_Non-coding_Transcript NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 163 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GGGCTGTCCTCCCTCCGCCAC 0.632000 39 14 0 0 0.002450 0 0 ASL 435 broad.mit.edu 37 7 65553815 65553815 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:65553815C>T uc003tup.3 + 9 975 c.740C>T c.(739-741)tCg>tTg p.S247L ASL_uc003tuo.3_Missense_Mutation_p.S247L|ASL_uc003tur.3_Missense_Mutation_p.S221L|ASL_uc003tuq.3_Missense_Mutation_p.S247L NM_001024943 NP_001020114 P04424 ARLY_HUMAN Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA. 247 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) TTCTGGGCTTCGCTGTGCATG 0.587000 22 9 0 0 0.000673 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033147 82033147 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:82033147G>A uc002fgu.3 - 2 879 c.751C>T c.(751-753)Ccc>Tcc p.P251S NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA. 251 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding p.Q250H(2) NS(2)|endometrium(1)|lung(4)|skin(3) 10 ATGAAGTAGGGCTGCCCAGAG 0.562000 64 29 0 0 0.006320 0 0 SLC6A19 340024 broad.mit.edu 37 5 1214133 1214133 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:1214133C>T uc003jbw.4 + 5 896 c.840C>T c.(838-840)tcC>tcT p.S280S NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 280 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCTCCTTCTCCCTGGCCTTCG 0.637000 62 20 0 0 0.002299 0 0 TIE1 7075 broad.mit.edu 37 1 43784918 43784918 + Missense_Mutation SNP G A A rs45475401 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:43784918G>A uc001ciu.3 + 17 3112 c.2935G>A c.(2935-2937)Gac>Aac p.D979N TIE1_uc010oke.2_Missense_Mutation_p.D934N|TIE1_uc009vwq.3_Missense_Mutation_p.D935N|TIE1_uc010okg.2_Missense_Mutation_p.D624N|TIE1_uc021omo.1_5'Flank NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 979 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CATCCACAGGGACCTGGCTGC 0.567000 35 13 0 0 0.001855 0 0 TTN 7273 broad.mit.edu 37 2 179649008 179649008 + Missense_Mutation SNP A C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179649008A>C uc021vsy.1 - 15 2789 c.2564T>G c.(2563-2565)aTc>aGc p.I855S TTN_uc021vsz.1_Missense_Mutation_p.I809S|TTN_uc021vta.1_Missense_Mutation_p.I809S|TTN_uc021vtb.1_Missense_Mutation_p.I809S|TTN_uc002unb.2_Missense_Mutation_p.I855S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 855 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) CGATTTGGTGATCTTCTGAGC 0.483000 26 18 0 0 0.006122 0 0 CCDC33 80125 broad.mit.edu 37 15 74623056 74623056 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:74623056G>A uc002axo.3 + 12 1903 c.1509G>A c.(1507-1509)agG>agA p.R503R CCDC33_uc002axp.3_Silent_p.R325R|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.R96R|CCDC33_uc002axr.3_Silent_p.R96R NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 706 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGAAACTGAGGGACAGGGTGC 0.582000 29 14 0 0 0.003163 0 0 CWH43 80157 broad.mit.edu 37 4 49005952 49005952 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:49005952G>A uc003gyv.3 + 6 1185 c.1003G>A c.(1003-1005)Gct>Act p.A335T CWH43_uc011bzl.2_Missense_Mutation_p.A308T NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 335 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 CTGGTGCACAGCTTTTAAGTT 0.393000 19 9 0 0 0.006214 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518707 41518707 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:41518707C>T uc002opr.1 + 7 1288 c.1281C>T c.(1279-1281)atC>atT p.I427I CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.I227I NM_000767 NP_000758 P20813 CP2B6_HUMAN Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA. 427 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) AAGCTTTTATCCCCTTCTCCT 0.463000 124 50 0 0 0.003610 0 0 ZNF438 220929 broad.mit.edu 37 10 31138998 31138998 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:31138998G>A uc010qdz.2 - 6 771 c.336C>T c.(334-336)tcC>tcT p.S112S ZNF438_uc001ivn.3_Silent_p.S63S|ZNF438_uc010qdy.2_Silent_p.S102S|ZNF438_uc001ivo.4_Intron|ZNF438_uc009xlg.3_Silent_p.S112S|ZNF438_uc001ivp.4_Silent_p.S102S|ZNF438_uc010qea.2_Silent_p.S112S|ZNF438_uc010qeb.2_Silent_p.S112S|ZNF438_uc010qec.1_Intron NM_182755 NP_001137241 Q7Z4V0 ZN438_HUMAN Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA. 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TTTCAGGTAGGGACATTCTGG 0.468000 60 23 0 0 0.002780 0 0 SPATS1 221409 broad.mit.edu 37 6 44344094 44344094 + Splice_Site SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:44344094G>A uc021yzz.1 + 8 860 c.759_splice c.e8-1 p.N253_splice TMEM151B_uc003oxg.3_Splice_Site|SPATS1_uc010jzb.3_Splice_Site_p.N138_splice|SPATS1_uc003oxk.3_Splice_Site_p.N253_splice NM_145026 NP_659463 Q496A3 SPAS1_HUMAN Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA. 253 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTTCCCACAGCTTGCCTTTC 0.443000 9 6 0 0 0.001984 0 0 PDCD1 5133 broad.mit.edu 37 2 242793385 242793385 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:242793385C>T uc002wcq.4 - 4 760 c.692G>A c.(691-693)cGa>cAa p.R231Q PDCD1_uc010fzs.3_Missense_Mutation_p.R110Q|PDCD1_uc010fzt.3_Non-coding_Transcript NM_005018 NP_005009 Q15116 PDCD1_HUMAN Homo sapiens programmed cell death 1 (PDCD1), mRNA. 231 T cell costimulation|apoptosis|humoral immune response|multicellular organismal development integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) GGTCTTCTCTCGCCACTGGAA 0.627000 25 16 0 0 0.003163 0 0 AVEN 57099 broad.mit.edu 37 15 34159949 34159949 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:34159949G>A uc001zhj.3 - 4 776 c.720C>T c.(718-720)ccC>ccT p.P240P NM_020371 NP_065104 Q9NQS1 AVEN_HUMAN Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA. 240 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) GCTCAAAGATGGGCCCCCTTC 0.547000 34 6 0 0 0.001984 0 0 HRH2 3274 broad.mit.edu 37 5 175111210 175111211 + Missense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:175111210_175111211CC>TT uc003mdc.4 + 1 1618_1619 c.974_975CC>TT c.(973-975)tcc>tTT p.S325F HRH2_uc003mdd.2_Missense_Mutation_p.S325F NM_001131055 NP_001124527 P25021 HRH2_HUMAN Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA. 325 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) TCTCAGCTGTCCAGGACCCAAA 0.594000 43 14 0 0 0.004672 0 0 PITPNM1 9600 broad.mit.edu 37 11 67265106 67265106 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:67265106G>A uc001olx.3 - 11 2016 c.1827C>T c.(1825-1827)ccC>ccT p.P609P PITPNM1_uc001olw.3_5'UTR|PITPNM1_uc001oly.3_Silent_p.P609P|PITPNM1_uc001olz.3_Silent_p.P609P NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 609 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 CATCTGCCAGGGGGTCCCGCA 0.622000 47 22 0 0 0.003330 0 0 AFF3 3899 broad.mit.edu 37 2 100199407 100199407 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:100199407G>A uc002taf.3 - 15 2865 c.2721C>T c.(2719-2721)ccC>ccT p.P907P AFF3_uc002tag.3_Silent_p.P882P|AFF3_uc010fiq.1_Silent_p.P882P|AFF3_uc010yvr.1_Silent_p.P1035P|AFF3_uc002tah.1_Silent_p.P907P NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 882 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CATCAGAGAGGGGTGAGATGG 0.418000 37 15 0 0 0.006122 0 0 ACTN4 81 broad.mit.edu 37 19 39214875 39214875 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:39214875C>T uc002oja.2 + 14 1890 c.1771C>T c.(1771-1773)Cac>Tac p.H591Y ACTN4_uc021uug.1_Missense_Mutation_p.H372Y NM_004924 NP_004915 O43707 ACTN4_HUMAN Homo sapiens actinin, alpha 4 (ACTN4), mRNA. 591 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCTGGCCATCCACAAGGAGGC 0.617000 31 10 0 0 0.006214 0 0 VTCN1 79679 broad.mit.edu 37 1 117695783 117695783 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:117695783C>T uc001ehb.3 - 3 759 c.654G>A c.(652-654)acG>acA p.T218T VTCN1_uc021osn.1_Silent_p.T123T|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Silent_p.T123T|VTCN1_uc009whf.2_Silent_p.T102T NM_024626 NP_078902 Q7Z7D3 VTCN1_HUMAN Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA. 218 Ig-like V-type 2. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TGTTGTTGATCGTAACATTGT 0.438000 64 39 0 0 0.006230 0 0 TNP2 7142 broad.mit.edu 37 16 11361865 11361865 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:11361865C>T uc002das.3 - 1 446 c.405G>A c.(403-405)tgG>tgA p.W135* RMI2_uc002daq.1_Intron NM_005425 NP_005416 Q05952 STP2_HUMAN Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA. 135 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 AGTTGGATTTCCATCCTAAGG 0.443000 15 6 0 0 0.004482 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072179 34072179 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:34072179C>T uc002hjv.2 - 5 2365 c.2337G>A c.(2335-2337)agG>agA p.R779R NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 779 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGGCCGAATCCTGGGTCTCA 0.612000 89 39 0 0 0.006230 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 83 38 0 0 0.007835 0 0 RNF125 54941 broad.mit.edu 37 18 29617132 29617132 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:29617132C>T uc002kxf.1 + 1 600 c.218C>T c.(217-219)cCt>cTt p.P73L NM_017831 NP_060301 Q96EQ8 RN125_HUMAN Homo sapiens ring finger protein 125 (RNF125), mRNA. 73 negative regulation of type I interferon production intracellular ligase activity|zinc ion binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 TGGACCTGTCCTTATTGCCGG 0.433000 119 45 0 0 0.003610 0 0 BX647938 0 broad.mit.edu 37 12 9716769 9716769 + RNA SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:9716769G>A uc001qwb.1 + 4 c.3964G>A Homo sapiens mRNA; cDNA DKFZp686A1124 (from clone DKFZp686A1124). CCTGCTCTACGAAACGCACTC 0.388000 7 4 0 0 0.000248 0 0 STAB2 55576 broad.mit.edu 37 12 104063386 104063386 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:104063386C>T uc001tjw.3 + 20 2426 c.2240C>T c.(2239-2241)cCa>cTa p.P747L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 747 EGF-like 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.P747L(2) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TTCTCAAATCCATGCTCAGGA 0.408000 70 20 0 0 0.001882 0 0 ASH2L 9070 broad.mit.edu 37 8 37986355 37986355 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:37986355C>T uc003xkt.4 + 11 1471 c.1413C>T c.(1411-1413)tcC>tcT p.S471S ASH2L_uc011lbk.2_Silent_p.S332S|ASH2L_uc003xku.4_Silent_p.S377S|ASH2L_uc010lwa.3_Silent_p.S377S NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA. 471 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TCCACCAGTCCATTGGCAAAC 0.428000 170 69 0 0 0.003610 0 0 ZNF211 10520 broad.mit.edu 37 19 58153069 58153069 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:58153069C>T uc002qpr.2 + 5 1710 c.1407C>T c.(1405-1407)tcC>tcT p.S469S ZNF211_uc010yhb.1_Silent_p.S409S|ZNF211_uc002qpp.2_Silent_p.S418S|ZNF211_uc002qpq.2_Silent_p.S405S|ZNF211_uc002qpt.2_Silent_p.S417S|ZNF211_uc010yhc.1_Silent_p.S417S|ZNF211_uc010yhe.1_Silent_p.S396S|ZNF211_uc010yhd.1_Silent_p.S344S NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 405 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGGAAAATCCTTTAGCCGAA 0.458000 34 20 0 0 0.002299 0 0 MYH1 4619 broad.mit.edu 37 17 10415854 10415854 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:10415854C>T uc002gmo.3 - 11 1112 c.1018G>A c.(1018-1020)Gaa>Aaa p.E340K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 340 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCCAGAATTTCAATGGCACTC 0.398000 35 10 0 0 0.000673 0 0 DISP2 85455 broad.mit.edu 37 15 40661934 40661934 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:40661934C>T uc001zlk.1 + 7 3710 c.3621C>T c.(3619-3621)ccC>ccT p.P1207P NM_033510 NP_277045 A7MBM2 DISP2_HUMAN Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA. 1207 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GTTCCCGGCCCCCACCAGCCC 0.647000 37 24 0 0 0.002299 0 0 SLC1A6 6511 broad.mit.edu 37 19 15079140 15079140 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:15079140C>T uc002naa.1 - 2 530 c.523G>A c.(523-525)Gct>Act p.A175T SLC1A6_uc010dzu.1_Missense_Mutation_p.A175T|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.3_Missense_Mutation_p.A175T|SLC1A6_uc002nac.3_Missense_Mutation_p.A175T|SLC1A6_uc002nad.1_Missense_Mutation_p.A175T NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 175 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) AAGGCATCAGCTGTGGGGATG 0.507000 14 4 0 0 0.000248 0 0 CATSPER3 347732 broad.mit.edu 37 5 134347254 134347254 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:134347254A>G uc003lag.3 + 7 1224 c.1138A>G c.(1138-1140)Atg>Gtg p.M380V NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA. 380 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCTGAGCCTAATGCTGGAAGA 0.552000 23 7 0 0 0.004482 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112030709 112030709 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:112030709C>T uc004bdz.1 - 2 711 c.416G>A c.(415-417)tGg>tAg p.W139* EPB41L4B_uc004bea.3_Nonsense_Mutation_p.W139* NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 139 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGATCCAGCCAGTGCTGAAA 0.368000 4 8 0 0 0.004482 0 0 WDR93 56964 broad.mit.edu 37 15 90281396 90281396 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:90281396G>A uc002boj.3 + 15 1991 c.1890G>A c.(1888-1890)agG>agA p.R630R WDR93_uc010bnr.3_Silent_p.R602R|WDR93_uc010upz.2_Silent_p.R347R NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 630 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TTCCTCAAAGGGACTTGGATA 0.468000 141 65 0 0 0.003610 0 0 ZNF462 58499 broad.mit.edu 37 9 109690165 109690165 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:109690165C>T uc004bcz.3 + 2 4261 c.3972C>T c.(3970-3972)ccC>ccT p.P1324P MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.P1172P|ZNF462_uc004bda.3_Silent_p.P1172P NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 1324 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATACGGAGCCCAACGGTTTGC 0.527000 23 30 0 0 0.007291 0 0 TATDN1 83940 broad.mit.edu 37 8 125520732 125520732 + Missense_Mutation SNP G A A rs148032742 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:125520732G>A uc003yrd.2 - 7 541 c.499C>T c.(499-501)Cgg>Tgg p.R167W TATDN1_uc003yre.2_Non-coding_Transcript|TATDN1_uc010mdm.2_Missense_Mutation_p.R120W NM_032026 NP_001139632 Q6P1N9 TATD1_HUMAN Homo sapiens TatD DNase domain containing 1 (TATDN1), transcript variant 1, mRNA. 167 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CCTACACACCGATCTCTATTT 0.318000 20 16 0 0 0.001523 0 0 TCEB3 6924 broad.mit.edu 37 1 24077804 24077804 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:24077804G>A uc001bho.3 + 3 847 c.787G>A c.(787-789)Ggg>Agg p.G263R NM_003198 NP_003189 Q14241 ELOA1_HUMAN Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA. 263 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding p.K262E(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) CCATGGGAAAGGGGTTGTGAG 0.542000 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 21 0 0 0.001523 0 0 PTDSS2 81490 broad.mit.edu 37 11 479146 479146 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:479146C>T uc001lpj.3 + 3 605 c.429C>T c.(427-429)ctC>ctT p.L143L PTDSS2_uc009ybv.1_Silent_p.L143L NM_030783 NP_110410 Q9BVG9 PTSS2_HUMAN Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA. 143 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 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;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) TCTTTATACTCTTCCAGGTAA 0.532000 99 56 0 0 0.003610 0 0 CCNH 902 broad.mit.edu 37 5 86703870 86703870 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:86703870G>A uc003kjb.3 - 3 687 c.448C>T c.(448-450)Ctt>Ttt p.L150F CCNH_uc003kiy.1_Non-coding_Transcript|CCNH_uc003kiz.1_Missense_Mutation_p.L97F|CCNH_uc003kja.3_Missense_Mutation_p.L97F NM_001239 NP_001186118 P51946 CCNH_HUMAN Homo sapiens cyclin H (CCNH), transcript variant 1, mRNA. 150 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2) 15 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) TGCTGTATAAGAAGTAGTTCA 0.393000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 59 19 0 0 0.001216 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128983524 128983524 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:128983524C>T uc003kvb.1 + 11 1921 c.1921C>T c.(1921-1923)Ctg>Ttg p.L641L ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 641 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AGAGTGGAGCCTGTGGAGTCC 0.522000 85 40 0 0 0.001951 0 0 SYN1 6853 broad.mit.edu 37 X 47466579 47466579 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:47466579C>T uc004die.3 - 1 525 c.396G>A c.(394-396)ggG>ggA p.G132G SYN1_uc004did.3_Silent_p.G132G NM_006950 NP_008881 P17600 SYN1_HUMAN Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA. 132 C; actin-binding and synaptic-vesicle binding. Golgi apparatus|cell junction ATP binding|actin binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 GGATCTTTTTCCCTTTGAAGT 0.438000 4 16 0 0 0.006122 0 0 RGS22 26166 broad.mit.edu 37 8 101075873 101075873 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:101075873C>T uc003yjb.1 - 7 1318 c.1123G>A c.(1123-1125)Gag>Aag p.E375K RGS22_uc003yja.1_Missense_Mutation_p.E194K|RGS22_uc003yjc.1_Missense_Mutation_p.E363K|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.E279K NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 375 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TCTGACCTCTCCTTTGTAGTT 0.353000 30 15 0 0 0.002450 0 0 SLC52A2 79581 broad.mit.edu 37 8 145584131 145584131 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:145584131C>T uc003zcc.2 + 2 1143 c.979C>T c.(979-981)Ctg>Ttg p.L327L FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.L327L|SLC52A2_uc010mfy.2_Silent_p.L327L|SLC52A2_uc011llc.2_Silent_p.L239L|SLC52A2_uc003zcd.2_Silent_p.L327L NM_001253816 NP_001240745 Q9HAB3 RFT3_HUMAN Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA. 327 integral to plasma membrane receptor activity|riboflavin transporter activity GGCCTGCTTCCTGGCCATGGG 0.657000 61 27 0 0 0.001786 0 0 GPCPD1 56261 broad.mit.edu 37 20 5548169 5548169 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:5548169G>A uc002wme.4 - 12 1400 c.1187C>T c.(1186-1188)cCa>cTa p.P396L GPCPD1_uc002wmd.4_Missense_Mutation_p.P215L NM_019593 NP_062539 Q9NPB8 GPCP1_HUMAN Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA. 396 GDPD. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 TTCTTTTACTGGAATTTCAAA 0.249000 71 32 0 0 0.003755 0 0 NPC1 4864 broad.mit.edu 37 18 21119887 21119887 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:21119887C>T uc002kum.4 - 17 2957 c.2683G>A c.(2683-2685)Gaa>Aaa p.E895K NPC1_uc010xaz.2_Missense_Mutation_p.E628K|NPC1_uc010xba.1_Missense_Mutation_p.E740K NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 895 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCGTGCCCTTCCTCCAGGACA 0.502000 54 31 0 0 0.004878 0 0 STEAP4 79689 broad.mit.edu 37 7 87913151 87913151 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:87913151C>T uc022agz.1 - 2 657 c.434G>A c.(433-435)gGa>gAa p.G145E STEAP4_uc003ujs.3_Missense_Mutation_p.G145E|STEAP4_uc010lek.3_Missense_Mutation_p.G145E NM_001205315 NP_001192244 Q687X5 STEA4_HUMAN Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA. 145 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) ATCCAGTGCTCCTGACTGGAG 0.418000 23 29 0 0 0.002445 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147926752 147926752 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:147926752C>T uc003weu.2 + 19 3778 c.3262C>T c.(3262-3264)Cga>Tga p.R1088* NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 1088 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.R1088*(2) 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) CTTACAGATTCGATACAACCT 0.443000 HNSCC(39;0.1) 11 13 0 0 0.001368 0 0 MUC16 94025 broad.mit.edu 37 19 9049043 9049043 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:9049043G>A uc002mkp.3 - 4 32792 c.32588C>T c.(32587-32589)tCa>tTa p.S10863L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10865 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 TGGAACAGCTGAACTGGATTC 0.473000 49 24 0 0 0.003330 0 0 SEC14L4 284904 broad.mit.edu 37 22 30888480 30888480 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:30888480C>T uc003aid.2 - 7 745 c.645G>A c.(643-645)agG>agA p.R215R SEC14L4_uc011akz.1_Silent_p.R215R|SEC14L4_uc003aie.2_Silent_p.R200R|SEC14L4_uc003aif.2_Silent_p.R161R NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 215 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TCACAATCTTCCTGCGTGTCT 0.537000 14 9 0 0 0.006214 0 0 AKR1C2 1646 broad.mit.edu 37 10 5042756 5042756 + Missense_Mutation SNP G A A rs139521690 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:5042756G>A uc001ihs.3 - 4 768 c.355C>T c.(355-357)Cca>Tca p.P119S AKR1C3_uc001ihr.3_Intron|AKR1C2_uc009xhy.3_Missense_Mutation_p.P119S|AKR1C2_uc001iht.3_Missense_Mutation_p.P119S|AKR1C2_uc010qao.2_Missense_Mutation_p.P119S NM_001354 NP_001345 P52895 AK1C2_HUMAN Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) (AKR1C2), transcript variant 1, mRNA. 119 digestion|prostaglandin metabolic process|steroid metabolic process cytoplasm androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(1)|large_intestine(5)|lung(3)|skin(1) 10 NADH(DB00157)|Ursodeoxycholic acid(DB01586) ACAGACACTGGAAAATGAATA 0.378000 33 17 0 0 0.001523 0 0 OR1A1 8383 broad.mit.edu 37 17 3119772 3119772 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:3119772C>T uc010vrc.2 + 0 858 c.858C>T c.(856-858)ttC>ttT p.F286F NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F286S(1)|p.P285S(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TAAATCCTTTCATCTACAGTC 0.473000 69 28 0 0 0.007291 0 0 DNAH1 25981 broad.mit.edu 37 3 52426493 52426493 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:52426493C>T uc011bef.2 + 63 10327 c.10066C>T c.(10066-10068)Cag>Tag p.Q3356* DNAH1_uc003ddv.3_Nonsense_Mutation_p.Q214* NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 3421 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCTAGAGGACCAGCTACTGGG 0.612000 33 9 0 0 0.006214 0 0 SHISA3 152573 broad.mit.edu 37 4 42403086 42403086 + Missense_Mutation SNP T G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:42403086T>G uc003gwp.3 + 1 553 c.335T>G c.(334-336)cTg>cGg p.L112R NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA. 112 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 TTCATCATCCTGGGCTCTGTA 0.502000 90 57 0 0 0.003610 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994718 140994718 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:140994718C>T uc004fbt.3 + 3 1852 c.1528C>T c.(1528-1530)Ccc>Tcc p.P510S MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P169S NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 510 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGAGGGTTTTCCCCAGTCTCC 0.507000 HNSCC(15;0.026) 25 55 0 0 0.003610 0 0 GRM7 2917 broad.mit.edu 37 3 7620766 7620766 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:7620766C>T uc003bqm.2 + 7 2447 c.2173C>T c.(2173-2175)Cca>Tca p.P725S GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P725S|GRM7_uc003bql.2_Missense_Mutation_p.P725S|GRM7_uc003bqn.1_Missense_Mutation_p.P308S|GRM7_uc010hch.1_Missense_Mutation_p.P236S NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 725 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TGGTGTTGATCCACCCAACAT 0.433000 35 14 0 0 0.002450 0 0 PIP5K1P1 206426 broad.mit.edu 37 6 7987565 7987565 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:7987565C>T uc003mxx.4 + 0 1231 c.796C>T c.(796-798)Ccc>Tcc p.P266S TXNDC5_uc003mxw.3_Intron Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA. GAAGCCTCTTCCCACATTTAA 0.448000 16 10 0 0 0.006214 0 0 NLRP14 338323 broad.mit.edu 37 11 7063624 7063624 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:7063624G>A uc001mfb.1 + 3 690 c.367G>A c.(367-369)Gga>Aga p.G123R NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 123 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CTTAGGTGATGGAACAGAATA 0.343000 44 26 0 0 0.007291 0 0 SGSM1 129049 broad.mit.edu 37 22 25264699 25264699 + Missense_Mutation SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:25264699T>C uc003abg.2 + 11 1325 c.1168T>C c.(1168-1170)Ttt>Ctt p.F390L SGSM1_uc010guu.1_Missense_Mutation_p.F390L|SGSM1_uc003abh.2_Missense_Mutation_p.F390L|SGSM1_uc003abj.2_Missense_Mutation_p.F390L|SGSM1_uc003abi.1_Missense_Mutation_p.F365L NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 390 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GGGCAAAGTGTTTCCTAAACT 0.498000 65 32 0 0 0.002836 0 0 NDST4 64579 broad.mit.edu 37 4 115767017 115767017 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:115767017G>A uc003ibu.3 - 9 2756 c.2077C>T c.(2077-2079)Ctc>Ttc p.L693F NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 693 Heparan sulfate N-sulfotransferase 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) GGGTCAATGAGGATGGTGATG 0.428000 51 29 0 0 0.006999 0 0 SPTBN2 6712 broad.mit.edu 37 11 66458762 66458762 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:66458762C>T uc001ojd.3 - 25 5630 c.5558G>A c.(5557-5559)aGc>aAc p.S1853N NM_006946 NP_008877 O15020 SPTN2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA. 1853 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GACCTGGGGGCTGAGGGCCTG 0.647000 83 31 0 0 0.003755 0 0 MASP1 5648 broad.mit.edu 37 3 186943152 186943152 + Silent SNP G A A rs147189329 by1000genomes TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:186943152G>A uc003frh.2 - 12 2091 c.1701C>T c.(1699-1701)ttC>ttT p.F567F NM_001879 NP_001870 P48740 MASP1_HUMAN Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA. 567 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) TGGGCATCACGAAGGCATTCA 0.582000 57 48 0 0 0.003610 0 0 ZMYND12 84217 broad.mit.edu 37 1 42898933 42898933 + Missense_Mutation SNP G A A rs143355029 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:42898933G>A uc001chj.3 - 6 1126 c.856C>T c.(856-858)Cgc>Tgc p.R286C ZMYND12_uc010ojt.2_Missense_Mutation_p.R176C NM_032257 NP_115633 Q9H0C1 ZMY12_HUMAN Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA. 286 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTCAGGATGCGAATGGCTTCT 0.448000 104 64 0 0 0.003610 0 0 PRLR 5618 broad.mit.edu 37 5 35070327 35070327 + Missense_Mutation SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:35070327C>A uc003jjm.3 - 6 1143 c.584G>T c.(583-585)aGc>aTc p.S195I PRLR_uc003jjk.1_Missense_Mutation_p.S124I|PRLR_uc003jjg.2_Missense_Mutation_p.S195I|PRLR_uc003jjh.2_Missense_Mutation_p.S195I|PRLR_uc003jji.2_Missense_Mutation_p.S124I|PRLR_uc003jjj.2_Missense_Mutation_p.S195I|PRLR_uc003jjl.4_Missense_Mutation_p.S94I|PRLR_uc021xxl.1_Missense_Mutation_p.S195I|PRLR_uc010iuw.1_Missense_Mutation_p.S124I NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 195 Fibronectin type-III 2. T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGGATGTAGGCTGAGAATCTT 0.428000 29 11 9.70103e-10 1.8878e-09 0.000673 1 0 PACSIN1 29993 broad.mit.edu 37 6 34499498 34499498 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:34499498G>A uc003ojo.3 + 8 1417 c.1159G>A c.(1159-1161)Gga>Aga p.G387R PACSIN1_uc003ojp.3_Missense_Mutation_p.G387R NM_020804 NP_065855 Q9BY11 PACN1_HUMAN Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA. 387 SH3. endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CGACTCCAAGGGAGTGCGCGT 0.657000 81 37 0 0 0.007835 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701796 56701796 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:56701796G>A uc010ygh.2 - 3 888 c.888C>T c.(886-888)ccC>ccT p.P296P NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 296 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGCTTCTTTTGGGACTGCTCA 0.517000 106 53 0 0 0.003610 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16872745 16872745 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:16872745G>A uc010rcu.1 - 7 704 c.689C>T c.(688-690)tCc>tTc p.S230F PLEKHA7_uc001mmo.3_Missense_Mutation_p.S230F NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA. 230 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TACCTTAAAGGAATATTTGCG 0.507000 36 20 0 0 0.003330 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189157 50189157 + Missense_Mutation SNP C G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:50189157C>G uc009zlk.2 - 7 2688 c.2486G>C c.(2485-2487)cGa>cCa p.R829P NCKAP5L_uc001rvc.3_Missense_Mutation_p.R33P|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R422P NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA. 825 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 AGCCCCAGGTCGAGGCACCAC 0.627000 52 21 0 0 0.001523 0 0 CDC25A 993 broad.mit.edu 37 3 48215944 48215944 + Missense_Mutation SNP T A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:48215944T>A uc003csh.1 - 8 1124 c.760A>T c.(760-762)Aac>Tac p.N254Y CDC25A_uc003csi.1_Missense_Mutation_p.N214Y|CDC25A_uc021wxk.1_Missense_Mutation_p.N213Y NM_001789 NP_001780 P30304 MPIP1_HUMAN Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA. 254 DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TTGCATCGGTTGTCCTTACAG 0.458000 38 17 0 0 0.006122 0 0 LRP6 4040 broad.mit.edu 37 12 12315233 12315233 + Nonsense_Mutation SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:12315233C>A uc001rah.4 - 9 2315 c.2173G>T c.(2173-2175)Gga>Tga p.G725* BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonsense_Mutation_p.G725* NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 725 Beta-propeller 3. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CGATTCGTTCCTGTGTCTGCC 0.507000 609 10 0.000978159 0.00189102 0.000978 1 0 GRM7 2917 broad.mit.edu 37 3 7340399 7340399 + Missense_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:7340399A>T uc003bqm.2 + 2 1039 c.765A>T c.(763-765)agA>agT p.R255S GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R255S|GRM7_uc003bql.2_Missense_Mutation_p.R255S|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 255 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding p.V254M(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AGTCCGTGAGAATCCCCCAGG 0.473000 38 18 0 0 0.007413 0 0 CBLN2 147381 broad.mit.edu 37 18 70205589 70205589 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:70205589C>T uc002lku.2 - 3 732 c.497G>A c.(496-498)gGc>gAc p.G166D CBLN2_uc002lkv.2_Missense_Mutation_p.G166D NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN Homo sapiens cerebellin 2 precursor (CBLN2), mRNA. 166 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) CACTGGGTAGCCATTCTGCAT 0.502000 53 23 0 0 0.004656 0 0 FRG1 2483 broad.mit.edu 37 4 190876288 190876288 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:190876288G>A uc003izs.3 + 4 605 c.414G>A c.(412-414)tgG>tgA p.W138* NM_004477 NP_004468 Q14331 FRG1_HUMAN Homo sapiens FSHD region gene 1 (FRG1), mRNA. 138 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GAGAACAATGGGAACCAGTCT 0.348000 104 6 0 0 0.003080 0 0 MMS22L 253714 broad.mit.edu 37 6 97610003 97610003 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:97610003G>A uc003ppb.3 - 21 3526 c.3260C>T c.(3259-3261)cCt>cTt p.P1087L MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.P1047L NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA. 1087 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGCTAAGCGAGGAGGAGGTGA 0.413000 26 16 0 0 0.006122 0 0 ZNF783 100289678 broad.mit.edu 37 7 148963740 148963741 + Missense_Mutation DNP GG AA AA TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:148963740_148963741GG>AA uc011kuo.2 + 1 502_503 c.339_340GG>AA c.(337-342)ctggag>ctAAag p.E114K AF035281_uc003wfr.4_Non-coding_Transcript NM_001195220 NP_001182149 C9J9J2 C9J9J2_HUMAN Homo sapiens zinc finger family member 783 (ZNF783), mRNA. 114 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) AGAGGCGGCTGGAGAATGTGGA 0.649000 65 21 0 0 0.004672 0 0 MACROD2 140733 broad.mit.edu 37 20 15480424 15480424 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:15480424C>T uc002wou.3 + 7 841 c.577C>T c.(577-579)Ccc>Tcc p.P193S MACROD2_uc002wot.3_Missense_Mutation_p.P193S|MACROD2_uc002woz.3_5'UTR NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA. 193 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) TCTAGGCTTTCCCAACGAGCC 0.438000 31 18 0 0 0.001216 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510200 77510200 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:77510200C>T uc001dhi.3 + 2 748 c.573C>T c.(571-573)ctC>ctT p.L191L ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA. 191 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 ACCTGCATCTCCTGAGCCAGG 0.587000 82 42 0 0 0.002222 0 0 RFPL1 5988 broad.mit.edu 37 22 29837591 29837592 + Missense_Mutation DNP GG AA AA TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:29837591_29837592GG>AA uc003afn.3 + 1 643_644 c.434_435GG>AA c.(433-435)agg>aAA p.R145K RFPL1-AS1_uc003afm.2_Non-coding_Transcript NM_021026 NP_066306 O75677 RFPL1_HUMAN Homo sapiens ret finger protein-like 1 (RFPL1), mRNA. 145 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 GACGACCTCAGGAGCGTCCGAA 0.505000 36 13 0 0 0.004672 0 0 HIP1 3092 broad.mit.edu 37 7 75174449 75174449 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:75174449G>A uc003uds.2 - 25 2642 c.2597C>T c.(2596-2598)tCt>tTt p.S866F HIP1_uc011kfz.2_Missense_Mutation_p.S815F NM_005338 NP_005329 O00291 HIP1_HUMAN Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA. 866 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton p.K866N(1) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGTCCATCGAGAGTTCTTGGC 0.463000 T PDGFRB CMML 56 41 0 0 0.003610 0 0 VAT1L 57687 broad.mit.edu 37 16 77918561 77918561 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:77918561C>T uc002ffg.1 + 6 1036 c.939C>T c.(937-939)atC>atT p.I313I NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA. 313 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 ACAAAGTCATCGCGGGGTTTT 0.507000 11 9 0 0 0.000978 0 0 GPR158 57512 broad.mit.edu 37 10 25886961 25886961 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:25886961C>T uc001isj.3 + 10 2466 c.2406C>T c.(2404-2406)tcC>tcT p.S802S GPR158_uc001isk.3_Silent_p.S177S NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 802 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAGGGAAATCCAAGGAGGAGA 0.542000 36 15 0 0 0.003163 0 0 ALCAM 214 broad.mit.edu 37 3 105271424 105271424 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:105271424G>A uc003dvx.3 + 13 2355 c.1659G>A c.(1657-1659)aaG>aaA p.K553K ALCAM_uc003dvw.2_Silent_p.K553K|ALCAM_uc003dvy.3_Silent_p.K540K|ALCAM_uc010hpp.3_Silent_p.K275K|ALCAM_uc003dvz.3_Silent_p.K187K NM_001627 NP_001618 Q13740 CD166_HUMAN Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA. 553 cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 ACATGAAGAAGTCAAAGTGAG 0.418000 44 20 0 0 0.001216 0 0 OR4K5 79317 broad.mit.edu 37 14 20389385 20389385 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:20389385C>T uc010tkw.2 + 0 620 c.620C>T c.(619-621)tCc>tTc p.S207F NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAATTCTTTCCCTAAGCACT 0.418000 77 48 0 0 0.003610 0 0 C3orf23 285343 broad.mit.edu 37 3 44441962 44441962 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:44441962C>T uc003cnd.4 + 8 1428 c.1001C>T c.(1000-1002)cCa>cTa p.P334L C3orf23_uc010him.3_Missense_Mutation_p.P334L|C3orf23_uc003cne.4_Missense_Mutation_p.P190L NM_173826 NP_776187 Q8N3R3 CC023_HUMAN Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA. 334 mitochondrion breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) GAATTACAGCCAGTATTGACA 0.338000 45 18 0 0 0.006122 0 0 MAST1 22983 broad.mit.edu 37 19 12975694 12975694 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:12975694G>A uc002mvm.3 + 12 1566 c.1438G>A c.(1438-1440)Gag>Aag p.E480K NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 480 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GTACTTTGCTGAGACGGTGCT 0.562000 34 12 0 0 0.001368 0 0 NMD3 51068 broad.mit.edu 37 3 160952972 160952972 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:160952972G>A uc003feb.1 + 6 668 c.549G>A c.(547-549)caG>caA p.Q183Q NMD3_uc003fec.3_Silent_p.Q183Q|NMD3_uc003fed.1_Silent_p.Q183Q|NMD3_uc010hwh.3_Silent_p.Q3Q NM_015938 NP_057022 Q96D46 NMD3_HUMAN Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA. 183 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) GAATGCATCAGAATACACTTC 0.269000 34 30 0 0 0.002445 0 0 PAPPA 5069 broad.mit.edu 37 9 119158869 119158869 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:119158869G>A uc004bjn.3 + 21 5239 c.4858G>A c.(4858-4860)Gac>Aac p.D1620N PAPPA_uc011lxq.2_Missense_Mutation_p.D995N NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1620 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CAGCCGGAAAGACCTCCGGGG 0.522000 31 17 0 0 0.006122 0 0 GRM7 2917 broad.mit.edu 37 3 7348240 7348240 + Missense_Mutation SNP G A A rs140116291 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:7348240G>A uc003bqm.2 + 3 1208 c.934G>A c.(934-936)Gga>Aga p.G312R GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G312R|GRM7_uc003bql.2_Missense_Mutation_p.G312R|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 312 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TCTTTGGGTGGGATCAGACAG 0.483000 54 35 0 0 0.003755 0 0 SVEP1 79987 broad.mit.edu 37 9 113170678 113170678 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:113170678C>T uc010mtz.3 - 37 7539 c.7202G>A c.(7201-7203)gGa>gAa p.G2401E SVEP1_uc010mty.3_Missense_Mutation_p.G327E NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2401 Sushi 17. 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 GACAGTACTTCCAAAATGAAG 0.458000 12 13 0 0 0.002450 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883992 228883992 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:228883992C>T uc002vpq.2 - 6 1625 c.1578G>A c.(1576-1578)tcG>tcA p.S526S SPHKAP_uc002vpp.2_Silent_p.S526S|SPHKAP_uc010zlx.1_Silent_p.S526S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 526 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGGGAAAGTTCGAGACCACTT 0.502000 21 12 0 0 0.000978 0 0 AP3B1 8546 broad.mit.edu 37 5 77412018 77412018 + Missense_Mutation SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:77412018T>C uc003kfj.3 - 17 2134 c.2009A>G c.(2008-2010)aAt>aGt p.N670S NM_003664 NP_003655 O00203 AP3B1_HUMAN Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA. 670 endocytosis|melanosome organization Golgi apparatus|clathrin coated vesicle membrane|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) CTTAGCAGAATTCTCTTGCTT 0.348000 Hermansky-Pudlak syndrome 40 20 0 0 0.001523 0 0 TECTA 7007 broad.mit.edu 37 11 121037453 121037453 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:121037453C>T uc010rzo.2 + 16 5550 c.5550C>T c.(5548-5550)atC>atT p.I1850I NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1850 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCTTTCAGATCAACAACACCA 0.507000 24 22 0 0 0.001882 0 0 KIF4B 285643 broad.mit.edu 37 5 154395342 154395342 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:154395342G>A uc010jih.1 + 0 2083 c.1923G>A c.(1921-1923)tgG>tgA p.W641* NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 641 W -> R (in Ref. 1; AF241316). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AAGAGATATGGATGATGAAAA 0.393000 59 30 0 0 0.001786 0 0 THBS2 7058 broad.mit.edu 37 6 169637409 169637409 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:169637409G>A uc003qwt.3 - 9 1581 c.1333C>T c.(1333-1335)Cct>Tct p.P445S NM_003247 NP_003238 P35442 TSP2_HUMAN Homo sapiens thrombospondin 2 (THBS2), mRNA. 445 TSP type-1 2. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GAAGACCAAGGTGACCAGTGG 0.582000 25 6 0 0 0.001984 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032214 10032214 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:10032214C>T uc010uym.2 - 3 919 c.609G>A c.(607-609)gtG>gtA p.V203V GRIN2A_uc002czo.4_Silent_p.V203V|GRIN2A_uc010uyn.2_Silent_p.V46V|GRIN2A_uc002czr.4_Silent_p.V203V NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 203 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCAGTGTGATCACATTCTGCA 0.498000 75 23 0 0 0.007291 0 0 NF1 4763 broad.mit.edu 37 17 29701167 29701167 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:29701167C>T uc002hgg.3 + 57 8897 c.8514C>T c.(8512-8514)atC>atT p.I2838I NF1_uc002hgh.3_Silent_p.I2817I|NF1_uc010cso.3_Silent_p.I1044I|NF1_uc010wbu.1_Intron|NF1_uc021tum.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 2838 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.I2838I(3)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTAAGAAGATCGTGTGAAGCT 0.478000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 19 10 0 0 0.000673 0 0 LAMP5 24141 broad.mit.edu 37 20 9495524 9495524 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:9495524C>T uc002wni.2 + 0 520 c.25C>T c.(25-27)Ccc>Tcc p.P9S LAMP5_uc010zrc.2_Missense_Mutation_p.P9S NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 9 integral to membrane AAGAGGGGTCCCCAGCATCGA 0.597000 24 6 0 0 0.001168 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926624 157926624 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:157926624G>A uc003wno.3 - 8 1422 c.1301C>T c.(1300-1302)tCc>tTc p.S434F PTPRN2_uc003wnp.3_Missense_Mutation_p.S417F|PTPRN2_uc003wnq.3_Missense_Mutation_p.S434F|PTPRN2_uc003wnr.3_Missense_Mutation_p.S396F|PTPRN2_uc011kwa.2_Missense_Mutation_p.S457F NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 434 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) TGAAGACAGGGAAGACTCAGG 0.617000 58 30 0 0 0.002836 0 0 DGKK 139189 broad.mit.edu 37 X 50163489 50163489 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:50163489C>T uc010njr.2 - 3 898 c.854G>A c.(853-855)cGa>cAa p.R285Q NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA. 285 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AGTGATTTTTCGTTGTGGTGT 0.383000 17 39 0 0 0.002522 0 0 DONSON 29980 broad.mit.edu 37 21 34958469 34958469 + Missense_Mutation SNP A C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:34958469A>C uc002ysk.3 - 2 741 c.421T>G c.(421-423)Tcc>Gcc p.S141A DONSON_uc002ysn.1_Missense_Mutation_p.S24A|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.3_5'UTR|DONSON_uc002ysm.3_Missense_Mutation_p.S141A NM_017613 NP_060083 Q9NYP3 DONS_HUMAN Homo sapiens downstream neighbor of SON (DONSON), mRNA. 141 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 TCAGGCTCGGAGAATGATACA 0.388000 OREG0003565 type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 10 0 0 0.000673 0 0 PLEC 5339 broad.mit.edu 37 8 144992922 144992922 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:144992922C>T uc003zaf.1 - 31 11648 c.11478G>A c.(11476-11478)acG>acA p.T3826T PLEC_uc003zab.1_Silent_p.T3689T|PLEC_uc003zac.1_Silent_p.T3693T|PLEC_uc003zad.2_Silent_p.T3689T|PLEC_uc003zae.1_Silent_p.T3657T|PLEC_uc003zag.1_Silent_p.T3667T|PLEC_uc003zah.2_Silent_p.T3675T|PLEC_uc003zaj.2_Silent_p.T3716T NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 3826 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCACGGAGCCCGTGCCATAGA 0.647000 18 8 0 0 0.003080 0 0 TDRD5 163589 broad.mit.edu 37 1 179631298 179631298 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:179631298G>A uc010pnp.2 + 14 2900 c.2382G>A c.(2380-2382)tgG>tgA p.W794* TDRD5_uc021pfm.1_Nonsense_Mutation_p.W740*|TDRD5_uc001gnf.2_Nonsense_Mutation_p.W740*|TDRD5_uc021pfn.1_Nonsense_Mutation_p.W794*|TDRD5_uc001gnh.2_Nonsense_Mutation_p.W295* NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 792 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 ATGATATTTGGGATGAGAACT 0.423000 35 15 0 0 0.001216 0 0 PRB3 5544 broad.mit.edu 37 12 11421581 11421581 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:11421581G>A uc001qzs.3 - 1 124 c.86C>T c.(85-87)cCc>cTc p.P29L PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 29 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TATTACGGAGGGAGATTCTTC 0.418000 89 34 0 0 0.007835 0 0 NBPF10 100132406 broad.mit.edu 37 1 144816614 144816614 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:144816614C>T uc009wig.1 + 11 1709 c.1515C>T c.(1513-1515)gtC>gtT p.V505V NBPF10_uc010oxo.1_Silent_p.V507V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Silent_p.V236V|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Silent_p.V167V NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 507 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) AAGACAAAGTCGACTCAACTC 0.448000 158 70 0 0 0.003610 0 0 RTDR1 27156 broad.mit.edu 37 22 23403994 23403994 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:23403994G>A uc002zwt.3 - 5 941 c.783C>T c.(781-783)atC>atT p.I261I NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA. 261 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CACCTTCAGTGATCACTGTGG 0.597000 25 13 0 0 0.004007 0 0 PLCE1 51196 broad.mit.edu 37 10 95791248 95791248 + Missense_Mutation SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:95791248T>C uc001kjk.3 + 1 1079 c.445T>C c.(445-447)Ttc>Ctc p.F149L PLCE1_uc010qnx.2_Missense_Mutation_p.F149L NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 149 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AAGAAAGGTGTTCCCTGGAAT 0.443000 48 20 0 0 0.001523 0 0 DEFB112 245915 broad.mit.edu 37 6 50011425 50011425 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:50011425C>T uc011dws.2 - 1 205 c.205G>A c.(205-207)Gaa>Aaa p.E69K NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN Homo sapiens defensin, beta 112 (DEFB112), mRNA. 69 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) ATCCTAAATTCACTATCATCA 0.438000 43 17 0 0 0.007413 0 0 FAM123B 139285 broad.mit.edu 37 X 63410946 63410946 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:63410946G>A uc022byb.1 - 0 2221 c.2221C>T c.(2221-2223)Ccc>Tcc p.P741S FAM123B_uc004dvo.3_Missense_Mutation_p.P741S NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 741 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 GCCCTCCTGGGAGATCCTCCA 0.507000 3 15 0 0 0.001216 0 0 abParts 0 broad.mit.edu 37 14 106518559 106518559 + RNA SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:106518559C>T uc021ser.1 - 2195 c.39394G>A Parts of antibodies, mostly variable regions. CCACCCACTCCAGCCCCTTCC 0.552000 55 32 0 0 0.003755 0 0 CPNE6 9362 broad.mit.edu 37 14 24545385 24545385 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:24545385G>A uc010tnv.2 + 11 1263 c.1117G>A c.(1117-1119)Ggg>Agg p.G373R CPNE6_uc001wlm.3_Missense_Mutation_p.G143R|CPNE6_uc001wll.3_Missense_Mutation_p.G318R|CPNE6_uc001wln.3_5'UTR NM_006032 NP_006023 O95741 CPNE6_HUMAN Homo sapiens copine VI (neuronal) (CPNE6), mRNA. 318 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) CGCCTCCAATGGGGACCCGAG 0.632000 16 11 0 0 0.001368 0 0 C3orf30 152405 broad.mit.edu 37 3 118865837 118865837 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:118865837G>A uc003ecb.1 + 0 841 c.801G>A c.(799-801)agG>agA p.R267R IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Silent_p.R267R NM_152539 NP_689752 Q96M34 CC030_HUMAN Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA. 267 p.R267W(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) GGAAAGTTAGGAGAAGAAGTT 0.498000 69 15 0 0 0.004990 0 0 BANF1 8815 broad.mit.edu 37 11 65770751 65770751 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:65770751C>T uc001ogo.3 + 1 538 c.30C>T c.(28-30)ttC>ttT p.F10F EIF1AD_uc021qlr.1_5'Flank|EIF1AD_uc001ogm.2_5'Flank|EIF1AD_uc021qls.1_5'Flank|EIF1AD_uc021qlt.1_5'Flank|EIF1AD_uc021qlu.1_5'Flank|EIF1AD_uc021qlv.1_5'Flank|EIF1AD_uc001ogn.2_5'Flank|BANF1_uc001ogp.3_Silent_p.F10F NM_003860 NP_003851 O75531 BAF_HUMAN Homo sapiens barrier to autointegration factor 1 (BANF1), transcript variant 1, mRNA. 10 initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus chromosome|cytosol|nucleoplasm DNA binding large_intestine(2)|prostate(1) 3 ACCGAGACTTCGTGGCAGAGC 0.532000 19 6 0 0 0.003080 0 0 RHBG 57127 broad.mit.edu 37 1 156348077 156348077 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:156348077C>T uc010pho.2 + 3 598 c.560C>T c.(559-561)aCc>aTc p.T187I RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.T118I|RHBG_uc009wrz.3_Missense_Mutation_p.T155I|RHBG_uc001for.3_Missense_Mutation_p.T157I NM_020407 NP_065140 Q9H310 RHBG_HUMAN Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA. 187 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) ACTATCCACACCTTTGGTGCC 0.647000 65 32 0 0 0.004289 0 0 VIP 7432 broad.mit.edu 37 6 153073340 153073340 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:153073340C>T uc003qpe.3 + 1 200 c.28C>T c.(28-30)Ctt>Ttt p.L10F VIP_uc003qpf.3_Missense_Mutation_p.L10F|VIP_uc010kjd.3_Missense_Mutation_p.L10F NM_003381 NP_003372 P01282 VIP_HUMAN Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA. 10 G-protein coupled receptor protein signaling pathway|body fluid secretion|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) GGCCCAGCTCCTTGTGCTCCT 0.478000 31 14 0 0 0.002450 0 0 HHIP 64399 broad.mit.edu 37 4 145636561 145636561 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:145636561G>A uc003ijs.2 + 9 2337 c.1657G>A c.(1657-1659)Gga>Aga p.G553R NM_022475 NP_071920 Q96QV1 HHIP_HUMAN Homo sapiens hedgehog interacting protein (HHIP), mRNA. 553 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TCACATCTTGGGATTTGGAGA 0.433000 42 20 0 0 0.001882 0 0 FBXO46 23403 broad.mit.edu 37 19 46215197 46215198 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:46215197_46215198CC>TT uc002pcz.3 - 1 1679_1680 c.1556_1557GG>AA c.(1555-1557)tgg>tAA p.W519* FBXO46_uc002pcy.3_Nonsense_Mutation_p.W519*|FBXO46_uc021uvz.1_Nonsense_Mutation_p.W519* NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN Homo sapiens F-box protein 46 (FBXO46), mRNA. 519 F-box. protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) GGTCTCGGCTCCAGCGCGAGTC 0.663000 7 6 0 0 0.004672 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672117 77672117 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:77672117G>A uc021rks.1 - 55 9439 c.9172C>T c.(9172-9174)Cat>Tat p.H3058Y MYCBP2_uc010aev.3_Missense_Mutation_p.H2424Y|MYCBP2_uc001vkg.1_Missense_Mutation_p.H543Y|MYCBP2_uc010aew.3_Missense_Mutation_p.H406Y NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 3020 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGTTCAGGATGAAACTTTAGG 0.398000 30 24 0 0 0.003954 0 0 BPIFB4 149954 broad.mit.edu 37 20 31685474 31685474 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:31685474C>T uc010zue.2 + 10 1465 c.1450C>T c.(1450-1452)Ctg>Ttg p.L484L NM_182519 NP_872325 P59827 LPLC4_HUMAN Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA. 484 cytoplasm|extracellular region lipid binding GATCCAGGTGCTGAACCCACC 0.587000 55 35 0 0 0.005524 0 0 FAAH2 158584 broad.mit.edu 37 X 57405110 57405110 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:57405110C>T uc004dvc.3 + 5 918 c.769C>T c.(769-771)Ccc>Tcc p.P257S NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA. 257 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 AGGTCAGTTTCCCTTGGCTGT 0.507000 HNSCC(52;0.14) 12 36 0 0 0.005524 0 0 GPLD1 2822 broad.mit.edu 37 6 24448199 24448199 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:24448199G>A uc003ned.1 - 16 1695 c.1584C>T c.(1582-1584)ccC>ccT p.P528P GPLD1_uc010jpr.1_Silent_p.P365P|GPLD1_uc010jps.1_Silent_p.P528P NM_001503 NP_001494 P80108 PHLD_HUMAN Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA. 528 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 TGACCAGATCGGGTTCACTGT 0.522000 26 8 0 0 0.006214 0 0 GRIN2B 2904 broad.mit.edu 37 12 13720055 13720055 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:13720055G>A uc001rbt.2 - 11 2681 c.2502C>T c.(2500-2502)atC>atT p.I834I NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 834 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGATGAAGGTGATGAGGCTGA 0.512000 48 22 0 0 0.003330 0 0 HNRNPH3 3189 broad.mit.edu 37 10 70097677 70097677 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:70097677G>A uc001jnw.4 + 2 404 c.175G>A c.(175-177)Gag>Aag p.E59K HNRNPH3_uc001jnx.4_Missense_Mutation_p.E59K|HNRNPH3_uc009xpu.3_5'UTR|HNRNPH3_uc010qiv.2_Intron|HNRNPH3_uc001jny.4_Missense_Mutation_p.E10K NM_012207 NP_036339 P31942 HNRH3_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein H3 (2H9) (HNRNPH3), transcript variant 2H9, mRNA. 59 RRM 1. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex RNA binding|nucleotide binding|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2) 11 AAGCACAGGGGAGGCCTTCGT 0.498000 64 31 0 0 0.002836 0 0 MIR1253 100302208 broad.mit.edu 37 17 2651399 2651399 + RNA SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:2651399G>A uc021tnr.1 - 0 c.78C>T Homo sapiens microRNA 1253 (MIR1253), microRNA. ATCCCAAAGGGGAGAAGATCA 0.483000 26 4 0 0 0.001168 0 0 ZNF653 115950 broad.mit.edu 37 19 11596514 11596514 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:11596514G>A uc002mrz.2 - 6 1664 c.1527C>T c.(1525-1527)ttC>ttT p.F509F NM_138783 NP_620138 Q96CK0 ZN653_HUMAN Homo sapiens zinc finger protein 653 (ZNF653), mRNA. 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 TGGATAAATAGAACTTCTTGC 0.577000 74 44 0 0 0.003610 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919293 130919293 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:130919293C>T uc001uil.2 - 10 2404 c.2188G>A c.(2188-2190)Gaa>Aaa p.E730K RIMBP2_uc001uim.3_Missense_Mutation_p.E638K NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 730 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TTGCCAAGTTCAGAGCCTTTC 0.662000 71 43 0 0 0.003610 0 0 MC3R 4159 broad.mit.edu 37 20 54824426 54824426 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:54824426G>A uc002xxb.2 + 0 639 c.527G>A c.(526-528)gGc>gAc p.G176D NM_019888 NP_063941 P41968 MC3R_HUMAN Homo sapiens melanocortin 3 receptor (MC3R), mRNA. 213 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) GGCGTCTGTGGCGTGGTGTTC 0.562000 53 26 0 0 0.005443 0 0 ZNF556 80032 broad.mit.edu 37 19 2876127 2876127 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:2876127C>T uc002lwp.1 + 2 254 c.167C>T c.(166-168)tCt>tTt p.S56F ZNF556_uc002lwq.3_Missense_Mutation_p.S56F NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTCTATTTCTCAGCAGGAT 0.368000 112 67 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9049196 9049196 + Missense_Mutation SNP G T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:9049196G>T uc002mkp.3 - 4 32639 c.32435C>A c.(32434-32436)aCa>aAa p.T10812K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10814 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 AGGGGAGTTTGTCAGAGCTCG 0.488000 103 41 8.01111e-26 1.57765e-25 0.002522 1 0 KPRP 448834 broad.mit.edu 37 1 152733215 152733215 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:152733215C>T uc001fal.1 + 1 1209 c.1151C>T c.(1150-1152)cCa>cTa p.P384L KPRP_uc021ozf.1_Missense_Mutation_p.P384L NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 384 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTTCTGTCCACCACGGCGT 0.637000 31 9 0 0 0.006214 0 0 ACOXL 55289 broad.mit.edu 37 2 111542337 111542337 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:111542337G>A uc010yxk.1 + 2 328 c.104G>A c.(103-105)cGa>cAa p.R35Q NM_001142807 NP_001136279 Q9NUZ1 ACOXL_HUMAN Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA. 35 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TTTGTCAGCCGAAGCCTTGTC 0.453000 32 20 0 0 0.003954 0 0 KLHL38 340359 broad.mit.edu 37 8 124664923 124664923 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:124664923G>A uc003yqs.1 - 0 268 c.244C>T c.(244-246)Ccc>Tcc p.P82S NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA. 82 BTB. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 AGGGTTGGGGGGTCAATGCCT 0.587000 31 10 0 0 0.000673 0 0 DNAJC10 54431 broad.mit.edu 37 2 183582833 183582833 + Missense_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:183582833A>T uc002uow.1 + 2 435 c.20A>T c.(19-21)aAa>aTa p.K7I DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.K7I|DNAJC10_uc010fro.1_Non-coding_Transcript NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA. 7 ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGGTTAAATAAAGATGACTAT 0.343000 30 8 0 0 0.000978 0 0 DSCAM 1826 broad.mit.edu 37 21 41559882 41559882 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:41559882G>A uc002yyq.1 - 12 3038 c.2586C>T c.(2584-2586)ttC>ttT p.F862F DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 862 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGCAGGAAAAGAAACCAGAAT 0.403000 32 14 0 0 0.004990 0 0 COL7A1 1294 broad.mit.edu 37 3 48614433 48614433 + Missense_Mutation SNP C T T rs146234310 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:48614433C>T uc003ctz.2 - 64 5561 c.5560G>A c.(5560-5562)Ggg>Agg p.G1854R NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1854 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACCTTCCTCCCGTCTTCTCCA 0.547000 54 25 0 0 0.007291 0 0 HPS1 3257 broad.mit.edu 37 10 100185627 100185627 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:100185627G>A uc021pwv.1 - 11 1349 c.1103C>T c.(1102-1104)aCc>aTc p.T368I HPS1_uc010qpg.2_5'UTR|HPS1_uc009xwb.3_Non-coding_Transcript NM_000195 NP_000186 Q92902 HPS1_HUMAN Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA. 368 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity p.T368I(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GCAGTACATGGTGTGGGGCAC 0.612000 Hermansky-Pudlak syndrome OREG0020430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 26 0 0 0.004656 0 0 CSMD2 114784 broad.mit.edu 37 1 34285384 34285384 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:34285384G>A uc001bxm.1 - 8 1431 c.1254C>T c.(1252-1254)tcC>tcT p.S418S CSMD2_uc001bxn.1_Silent_p.S378S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 378 CUB 3. integral to membrane|plasma membrane protein binding p.T417S(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGATCCGCTTGGACCCTTGCA 0.607000 24 14 0 0 0.003163 0 0 OR52R1 119695 broad.mit.edu 37 11 4825355 4825355 + Missense_Mutation SNP C G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:4825355C>G uc021qcs.1 - 0 256 c.256G>C c.(256-258)Gcc>Ccc p.A86P NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGAATATGGCCAACATCTTA 0.512000 26 18 0 0 0.004990 0 0 C1orf168 199920 broad.mit.edu 37 1 57257927 57257927 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:57257927C>T uc001cym.4 - 1 965 c.559G>A c.(559-561)Gaa>Aaa p.E187K C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.E187K NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 187 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CCTTTTGTTTCCAGCTTTTTC 0.483000 66 31 0 0 0.002096 0 0 CLASP2 23122 broad.mit.edu 37 3 33673818 33673818 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:33673818A>G uc021wvc.1 - 8 1122 c.911T>C c.(910-912)tTt>tCt p.F304S CLASP2_uc021wvb.1_Missense_Mutation_p.F70S|CLASP2_uc021wvd.1_Missense_Mutation_p.F303S|CLASP2_uc003cfv.3_Missense_Mutation_p.F76S|CLASP2_uc011axu.1_Missense_Mutation_p.F80S|CLASP2_uc003cfw.2_Missense_Mutation_p.F76S NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA. 304 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 AGCTTTTATAAAATCATCTTC 0.378000 9 6 0 0 0.003080 0 0 TGFBR2 7048 broad.mit.edu 37 3 30729980 30729980 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:30729980C>T uc003ceo.3 + 5 1883 c.1501C>T c.(1501-1503)Ccc>Tcc p.P501S TGFBR2_uc003cen.3_Missense_Mutation_p.P526S NM_003242 NP_003233 P37173 TGFR2_HUMAN Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA. 501 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 ACCAGAAATTCCCAGCTTCTG 0.478000 30 12 0 0 0.003163 0 0 GAB4 128954 broad.mit.edu 37 22 17443709 17443709 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:17443709C>T uc002zlw.3 - 9 1747 c.1639G>A c.(1639-1641)Gag>Aag p.E547K NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA. 547 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TGGGTCTTCTCCAGATCCACC 0.602000 24 11 0 0 0.000673 0 0 ABCC8 6833 broad.mit.edu 37 11 17419306 17419306 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:17419306C>T uc001mnc.3 - 30 3918 c.3792G>A c.(3790-3792)gtG>gtA p.V1264V NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1264 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGATGGAGGTCACCGCTGCGA 0.637000 115 58 0 0 0.003610 0 0 OR4A47 403253 broad.mit.edu 37 11 48510946 48510946 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:48510946G>A uc010rhx.2 + 0 602 c.602G>A c.(601-603)gGa>gAa p.G201E NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G201E(2) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GTGGCCAATGGAGGACTGGCT 0.448000 59 22 0 0 0.002780 0 0 ZNF433 163059 broad.mit.edu 37 19 12126357 12126357 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:12126357C>T uc002msy.1 - 3 1496 c.1325G>A c.(1324-1326)aGg>aAg p.R442K AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.R407K NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN Homo sapiens zinc finger protein 433 (ZNF433), mRNA. 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 CGTGTGAGTCCTACCATGTGT 0.418000 45 26 0 0 0.001786 0 0 XRCC6BP1 91419 broad.mit.edu 37 12 58335605 58335605 + Missense_Mutation SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:58335605T>C uc001sqp.3 + 0 161 c.121T>C c.(121-123)Ttc>Ctc p.F41L NM_033276 NP_150592 Q9Y6H3 ATP23_HUMAN Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA. 41 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 11 CCAGCAAGGGTTCTTCTCCAG 0.637000 16 8 0 0 0.004482 0 0 CERKL 375298 broad.mit.edu 37 2 182403898 182403898 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:182403898C>T uc002unx.3 - 12 1638 c.1537G>A c.(1537-1539)Gat>Aat p.D513N CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.D487N|CERKL_uc010zfm.2_Missense_Mutation_p.D469N|CERKL_uc002unz.3_Missense_Mutation_p.D235N|CERKL_uc002uoa.3_Missense_Mutation_p.D418N|CERKL_uc002uob.3_Missense_Mutation_p.D235N|CERKL_uc002uoc.3_Missense_Mutation_p.D374N|CERKL_uc021vth.1_Missense_Mutation_p.D282N|CERKL_uc021vti.1_Missense_Mutation_p.D235N|CERKL_uc021vtj.1_Missense_Mutation_p.D190N|CERKL_uc021vtk.1_Missense_Mutation_p.D235N|CERKL_uc021vtl.1_Missense_Mutation_p.D190N|CERKL_uc021vtm.1_Missense_Mutation_p.D282N|CERKL_uc002uod.2_Missense_Mutation_p.D282N|CERKL_uc002unw.3_Missense_Mutation_p.D83N NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA. 513 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis Golgi apparatus|endoplasmic reticulum|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCAGTTTCATCCTCCTCCTCC 0.368000 45 33 0 0 0.004289 0 0 SNHG3 8420 broad.mit.edu 37 1 28835344 28835344 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:28835344G>A uc001bqd.3 + 3 286 c.270G>A c.(268-270)gaG>gaA p.E90E RCC1_uc001bqb.2_5'UTR|RCC1_uc001bqa.2_5'UTR|RCC1_uc001bqc.2_5'UTR Homo sapiens small nucleolar RNA host gene 3 (non-protein coding) (SNHG3), transcript variant 1, non-coding RNA. TCTTTTAGGAGAGAAGACGAT 0.348000 34 9 0 0 0.000673 0 0 C1orf168 199920 broad.mit.edu 37 1 57221585 57221585 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:57221585G>A uc001cym.4 - 6 1520 c.1114C>T c.(1114-1116)Ccc>Tcc p.P372S C1orf168_uc009vzu.1_Intron|C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 372 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCTGGATAGGGAAAATTCTTC 0.393000 31 11 0 0 0.001368 0 0 NID2 22795 broad.mit.edu 37 14 52508839 52508839 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:52508839G>A uc001wzo.3 - 6 2043 c.1809C>T c.(1807-1809)aaC>aaT p.N603N NID2_uc010tqs.2_Silent_p.N603N|NID2_uc010tqt.1_Silent_p.N603N|NID2_uc001wzp.3_Silent_p.N603N NM_007361 NP_031387 Q14112 NID2_HUMAN Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA. 603 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GGCTGAAGCCGTTCTCAGAGC 0.587000 69 37 0 0 0.006230 0 0 TRIP12 9320 broad.mit.edu 37 2 230675852 230675852 + Splice_Site SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:230675852C>T uc002vpx.1 - 14 2164 c.2055_splice c.e14+1 p.E685_splice TRIP12_uc021vxw.1_Splice_Site_p.E643_splice|TRIP12_uc002vpy.1_Splice_Site_p.E340_splice|TRIP12_uc002vpw.1_Splice_Site_p.E637_splice|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Splice_Site_p.E643_splice NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 637 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AAACACTTACCTCCTCATGCT 0.318000 27 10 0 0 0.000673 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48897015 48897015 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:48897015G>A uc002rwp.2 + 8 3359 c.3245G>A c.(3244-3246)gGg>gAg p.G1082E STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.G1082E|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.G1035E|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.G378E|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.G344E NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 1035 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AATATTGACGGGGGAGATCTG 0.383000 29 16 0 0 0.003163 0 0 IL21R 50615 broad.mit.edu 37 16 27460428 27460428 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:27460428C>T uc002dor.2 + 9 2055 c.1507C>T c.(1507-1509)Ccc>Tcc p.P503S IL21R_uc002doq.2_Missense_Mutation_p.P481S|IL21R_uc002dos.2_Missense_Mutation_p.P481S|LOC283888_uc002dot.3_Non-coding_Transcript NM_181079 NP_851565 Q9HBE5 IL21R_HUMAN Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA. 481 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 GGCGGGCTCACCCCTGGCCGG 0.652000 T BCL6 NHL 24 12 0 0 0.001368 0 0 TP63 8626 broad.mit.edu 37 3 189456456 189456456 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:189456456G>A uc003fry.2 + 2 306 c.217G>A c.(217-219)Gac>Aac p.D73N TP63_uc003frx.2_Missense_Mutation_p.D73N|TP63_uc003frz.2_Missense_Mutation_p.D73N|TP63_uc010hzc.1_Missense_Mutation_p.D73N NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 73 Transcription activation. 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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TCAGCCCATTGACTTGAACTT 0.428000 HNSCC(45;0.13) 61 28 0 0 0.001786 0 0 SCN11A 11280 broad.mit.edu 37 3 38892129 38892129 + Silent SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:38892129T>C uc021wvy.1 - 24 4369 c.4170A>G c.(4168-4170)caA>caG p.Q1390Q SCN11A_uc003cis.1_Silent_p.Q55Q NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1390 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGGCTTTGGGTTGGTTGTATG 0.398000 61 21 0 0 0.002780 0 0 CMYA5 202333 broad.mit.edu 37 5 79029836 79029836 + Missense_Mutation SNP G A A rs62621913 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:79029836G>A uc003kgc.3 + 1 5320 c.5248G>A c.(5248-5250)Gga>Aga p.G1750R NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 1750 perinuclear region of cytoplasm p.G1750E(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTCTTTAAAAGGATTATCAGA 0.438000 41 12 0 0 0.000978 0 0 SAMD4B 55095 broad.mit.edu 37 19 39847698 39847698 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:39847698C>T uc002olb.3 + 4 1200 c.165C>T c.(163-165)atC>atT p.I55I SAMD4B_uc002ola.3_Silent_p.I55I NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA. 55 protein binding p.I55N(1) autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GCAATGACATCCACCTGCTGG 0.592000 11 6 0 0 0.003080 0 0 TNXB 7148 broad.mit.edu 37 6 32052376 32052376 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:32052376C>T uc003nzl.2 - 7 3461 c.3259G>A c.(3259-3261)Ggc>Agc p.G1087S NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1174 Fibronectin type-III 3. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCAAACTCGCCCTCGGGGACC 0.657000 283 120 0 0 0.003610 0 0 ZNF394 84124 broad.mit.edu 37 7 99091874 99091875 + Missense_Mutation DNP GG AA AA TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:99091874_99091875GG>AA uc003uqs.3 - 2 1124_1125 c.963_964CC>TT c.(961-966)ttccac>ttTTac p.H322Y ZNF394_uc003uqt.3_Missense_Mutation_p.H115Y NM_032164 NP_115540 Q53GI3 ZN394_HUMAN Homo sapiens zinc finger protein 394 (ZNF394), mRNA. 322 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) GTCACCATGTGGAAACTTTGCT 0.515000 34 32 0 0 0.004672 0 0 ODZ2 57451 broad.mit.edu 37 5 167625888 167625888 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:167625888C>T uc010jjd.3 + 15 2904 c.2904C>T c.(2902-2904)tcC>tcT p.S968S ODZ2_uc003lzr.4_Silent_p.S745S|ODZ2_uc003lzt.4_Silent_p.S341S|ODZ2_uc010jje.3_Silent_p.S239S NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GAGGTGCTTCCTTGACTCTAC 0.547000 53 23 0 0 0.004656 0 0 OR13G1 441933 broad.mit.edu 37 1 247835968 247835968 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:247835968G>A uc001idi.1 - 0 376 c.376C>T c.(376-378)Cct>Tct p.P126S NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA. 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TAATGAAGAGGGAAACAAATG 0.493000 22 6 0 0 0.001168 0 0 SATB1 6304 broad.mit.edu 37 3 18390941 18390942 + Missense_Mutation DNP GT AG AG TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:18390941_18390942GT>AG uc003cbh.3 - 10 3747_3748 c.2012_2013AC>CT c.(2011-2013)gac>gCT p.D671A SATB1_uc003cbi.3_Missense_Mutation_p.D703A|SATB1_uc003cbj.3_Missense_Mutation_p.D671A NM_002971 NP_002962 Q01826 SATB1_HUMAN Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA. 671 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter PML body|nuclear matrix double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TGGCCTCTTCGTCAGGGTACAG 0.520000 80 33 0 0 0.004672 0 0 PEG3 5178 broad.mit.edu 37 19 57326417 57326417 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:57326417C>T uc002qnu.2 - 6 3744 c.3393G>A c.(3391-3393)agG>agA p.R1131R PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.R1102R|PEG3_uc002qnv.2_Silent_p.R1131R|PEG3_uc002qnw.2_Silent_p.R1007R|PEG3_uc002qnx.2_Silent_p.R1005R|PEG3_uc010etr.2_Silent_p.R1131R NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 1131 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S1130N(1) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCAGGCACTTCCTGCTGTGGA 0.478000 78 39 0 0 0.007835 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687508 27687508 + Silent SNP C T T rs145775010 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:27687508C>T uc001itu.2 - 3 2137 c.2019G>A c.(2017-2019)agG>agA p.R673R NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 673 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CCAGTTTTTGCCTAACATCTT 0.294000 28 5 0 0 0.000602 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475055 140475055 + Silent SNP G T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140475055G>T uc003lil.3 + 0 819 c.681G>T c.(679-681)acG>acT p.T227T PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 227 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.T227M(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCCGGCACGGCCCTGGTAC 0.587000 18 8 1.12685e-05 2.18133e-05 0.004482 1 0 TNNI3 7137 broad.mit.edu 37 19 55663277 55663277 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:55663277C>T uc002qjg.4 - 7 558 c.558G>A c.(556-558)cgG>cgA p.R186R TNNT1_uc002qjb.4_5'Flank|TNNT1_uc002qjc.4_5'Flank|TNNT1_uc002qje.4_5'Flank|TNNT1_uc002qjd.4_5'Flank|TNNT1_uc002qjf.2_5'Flank|TNNI3_uc010yft.2_Non-coding_Transcript NM_000363 NP_000354 P19429 TNNI3_HUMAN Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA. 186 R -> Q (in CMH7). cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding p.R186W(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CTCCCACCTCCCGGTTTTCCT 0.572000 38 24 0 0 0.002445 0 0 TRIM36 55521 broad.mit.edu 37 5 114499263 114499263 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:114499263G>A uc003kqs.3 - 1 759 c.250C>T c.(250-252)Cgg>Tgg p.R84W TRIM36_uc011cwc.2_Missense_Mutation_p.R72W|TRIM36_uc003kqt.3_Intron NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA. 84 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.R84W(2) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GAGGGGAGCCGAAGTCGAGGA 0.443000 53 23 0 0 0.005443 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117244 117244 + RNA SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrGL000205.1:117244G>A uc002kgk.4 + 0 c.622G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. TGAGGAATTCGCCCCCAGATC 0.522000 47 8 0 0 0.004482 0 0 TCRA 0 broad.mit.edu 37 14 22636742 22636742 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:22636742C>T uc001wdi.2 + 1 227 c.195C>T c.(193-195)ttC>ttT p.F65F TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|TCRA_uc021rpu.1_5'Flank Homo sapiens mRNA for T cell receptor alpha variable 30, partial cds, clone: SEB 222. CACCCGTCTTCCTGATGATAT 0.453000 23 18 0 0 0.002299 0 0 RASSF6 166824 broad.mit.edu 37 4 74453578 74453578 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:74453578C>T uc003hhd.1 - 4 580 c.457G>A c.(457-459)Gaa>Aaa p.E153K RASSF6_uc003hhc.1_Missense_Mutation_p.E121K|RASSF6_uc010iik.1_Missense_Mutation_p.E121K|RASSF6_uc010iil.1_Missense_Mutation_p.E109K NM_201431 NP_803876 Q6ZTQ3 RASF6_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA. 153 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TTCCTTTTTTCAGACATAGGA 0.368000 43 11 0 0 0.000978 0 0 ADAM30 11085 broad.mit.edu 37 1 120437244 120437244 + Silent SNP C T T rs145951922 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:120437244C>T uc001eij.3 - 0 1904 c.1716G>A c.(1714-1716)acG>acA p.T572T NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 572 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AAATTATAGTCGTATGCTCTG 0.398000 384 185 0 0 0.003610 0 0 ANK3 288 broad.mit.edu 37 10 61835570 61835570 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:61835570G>A uc001jky.3 - 36 5407 c.5069C>T c.(5068-5070)tCa>tTa p.S1690L ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1690 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTGGCTGATGAAATGACATC 0.408000 39 20 0 0 0.001523 0 0 ANXA5 308 broad.mit.edu 37 4 122589631 122589631 + Missense_Mutation SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:122589631C>A uc003idu.4 - 11 1025 c.955G>T c.(955-957)Gat>Tat p.D319Y ANXA5_uc003idv.4_Missense_Mutation_p.D319Y NM_001154 NP_001145 P08758 ANXA5_HUMAN Homo sapiens annexin A5 (ANXA5), mRNA. 319 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 CGTTAGTCATCTTCTCCACAG 0.493000 38 22 1.55469e-16 3.04547e-16 0.003330 1 0 GALNT2 2590 broad.mit.edu 37 1 230400986 230400986 + Splice_Site SNP G T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:230400986G>T uc010pwa.1 + 14 1386 c.1314_splice c.e14-1 p.R438_splice GALNT2_uc010pvy.1_Splice_Site_p.R400_splice|GALNT2_uc010pvz.1_Splice_Site|GALNT2_uc001htu.2_Splice_Site_p.R50_splice NM_004481 NP_004472 Q10471 GALT2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA. 438 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TTGTTTTTCAGGGTTCCAGAC 0.527000 56 29 7.53681e-25 1.48227e-24 0.006320 1 0 KIAA0196 9897 broad.mit.edu 37 8 126071759 126071759 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:126071759G>A uc003yrt.3 - 12 1876 c.1547C>T c.(1546-1548)tCc>tTc p.S516F KIAA0196_uc011lir.2_Missense_Mutation_p.S368F NM_014846 NP_055661 Q12768 STRUM_HUMAN Homo sapiens KIAA0196 (KIAA0196), mRNA. 516 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTGCAGATTGGATTCCAACTG 0.358000 34 5 0 0 0.001168 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412865 105412865 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:105412865C>T uc010axc.1 - 6 9043 c.8923G>A c.(8923-8925)Gac>Aac p.D2975N AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D2875N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 2975 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) AACTTGCTGTCTTTGGCAGTC 0.607000 170 83 0 0 0.003610 0 0 SUSD2 56241 broad.mit.edu 37 22 24579487 24579487 + Silent SNP C T T rs143350390 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:24579487C>T uc002zzn.1 + 2 356 c.312C>T c.(310-312)ctC>ctT p.L104L NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN Homo sapiens sushi domain containing 2 (SUSD2), mRNA. 104 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 TCCAGACCCTCGGCCATGTGG 0.627000 58 20 0 0 0.002780 0 0 SBF1 6305 broad.mit.edu 37 22 50906053 50906053 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:50906053G>A uc003blh.3 - 3 541 c.346C>T c.(346-348)Ctg>Ttg p.L116L SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Silent_p.L117L NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 116 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GTGGGAGACAGGTGGGTCTGG 0.667000 28 17 0 0 0.007413 0 0 CCDC80 151887 broad.mit.edu 37 3 112357285 112357286 + Missense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:112357285_112357286CC>TT uc003dzf.3 - 1 1685_1686 c.1467_1468GG>AA c.(1465-1470)aaggag>aaAAag p.E490K CCDC80_uc011bhv.2_Missense_Mutation_p.E490K|CCDC80_uc003dzg.3_Missense_Mutation_p.E490K|CCDC80_uc003dzh.1_Missense_Mutation_p.E490K NM_199512 NP_955806 Q76M96 CCD80_HUMAN Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA. 490 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GGAGGTTTCTCCTTTGCTGGCT 0.574000 75 33 0 0 0.004672 0 0 CYP2E1 1571 broad.mit.edu 37 10 135351392 135351392 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:135351392C>T uc001lnj.1 + 7 1326 c.1293C>T c.(1291-1293)tcC>tcT p.S431S CYP2E1_uc001lnk.1_Silent_p.S294S|CYP2E1_uc009ybl.1_Silent_p.S232S|CYP2E1_uc009ybm.1_Silent_p.S85S|CYP2E1_uc001lnl.1_Silent_p.S232S NM_000773 NP_000764 P05181 CP2E1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA. 431 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) AGCCATTTTCCACAGGTGAGA 0.473000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 19 14 0 0 0.003163 0 0 CRADD 8738 broad.mit.edu 37 12 94243947 94243948 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:94243947_94243948GG>AA uc001tda.3 + 2 604_605 c.500_501GG>AA c.(499-501)tgg>tAA p.W167* CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron NM_003805 NP_003796 P78560 CRADD_HUMAN Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA. 167 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 TTCATCCGTTGGCGGCAGCGCT 0.629000 44 20 0 0 0.004672 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427665 197427665 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:197427665C>T uc003fyc.2 - 6 1263 c.1080G>A c.(1078-1080)caG>caA p.Q360Q KIAA0226_uc003fyd.3_Silent_p.Q300Q|KIAA0226_uc003fye.1_Silent_p.Q67Q|KIAA0226_uc003fyf.3_Silent_p.Q193Q|KIAA0226_uc003fyg.3_Silent_p.Q353Q NM_014687 NP_055502 Q92622 RUBIC_HUMAN Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA. 360 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) AATCTGGCTTCTGGGAGCTGC 0.602000 47 11 0 0 0.001855 0 0 DSP 1832 broad.mit.edu 37 6 7584254 7584254 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:7584254C>T uc003mxp.1 + 23 7038 c.6759C>T c.(6757-6759)ttC>ttT p.F2253F DSP_uc003mxq.1_Silent_p.F1654F|DSP_uc021yle.1_Silent_p.F1810F NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2253 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTAAGGACTTCCTCCAGGGTT 0.443000 34 15 0 0 0.002450 0 0 OR14C36 127066 broad.mit.edu 37 1 248512862 248512862 + Silent SNP G A A rs143199703 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:248512862G>A uc010pzl.2 + 0 786 c.786G>A c.(784-786)gcG>gcA p.A262A NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA. 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A262A(2) central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GGCCACCTGCGATACCTGCAG 0.463000 76 35 0 0 0.004878 0 0 LYSMD1 388695 broad.mit.edu 37 1 151134321 151134321 + Missense_Mutation SNP G A A rs138522958 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:151134321G>A uc001ewy.3 - 1 1072 c.436C>T c.(436-438)Ccc>Tcc p.P146S SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Missense_Mutation_p.P98S NM_212551 NP_997716 Q96S90 LYSM1_HUMAN Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA. 146 cell wall macromolecule catabolic process endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ATGGGCGTGGGGGTTTCCTGG 0.517000 78 34 0 0 0.002836 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51630351 51630351 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:51630351C>T uc010yct.2 + 3 908 c.813C>T c.(811-813)gtC>gtT p.V271V SIGLEC9_uc002pvu.3_Silent_p.V271V NM_001198558 NP_001185487 Q9Y336 SIGL9_HUMAN Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA. 271 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TGCGCCTGGTCTGTGCAGTTG 0.577000 68 26 0 0 0.007291 0 0 ERP27 121506 broad.mit.edu 37 12 15090942 15090942 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:15090942G>A uc001rco.3 - 1 160 c.139C>T c.(139-141)Cca>Tca p.P47S NM_152321 NP_689534 Q96DN0 ERP27_HUMAN Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA. 47 Thioredoxin. endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 ATGGCAGCTGGGACATCTGTG 0.517000 67 32 0 0 0.004289 0 0 LCE3D 84648 broad.mit.edu 37 1 152552164 152552164 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:152552164G>A uc021oza.1 - 0 249 c.249C>T c.(247-249)ggC>ggT p.G83G LCE3D_uc001fab.3_Silent_p.G83G NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN Homo sapiens late cornified envelope 3D (LCE3D), mRNA. 83 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) CATGGCCGCAGCCAGAGCCCC 0.632000 79 39 0 0 0.002222 0 0 AQP9 366 broad.mit.edu 37 15 58476165 58476165 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:58476165G>A uc002aez.2 + 5 1076 c.719G>A c.(718-720)gGa>gAa p.G240E ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G175E NM_020980 NP_066190 O43315 AQP9_HUMAN Homo sapiens aquaporin 9 (AQP9), mRNA. 240 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) TTCAGAGCTGGAAACAACTTC 0.433000 92 34 0 0 0.003271 0 0 TRIM71 131405 broad.mit.edu 37 3 32932942 32932942 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:32932942C>T uc003cff.3 + 3 2309 c.2246C>T c.(2245-2247)tCc>tTc p.S749F NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 749 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 CACTTTGACTCCCCACGGGGT 0.582000 19 11 0 0 0.001855 0 0 CACNG3 10368 broad.mit.edu 37 16 24268165 24268165 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:24268165G>A uc002dmf.3 + 0 1292 c.90G>A c.(88-90)acG>acA p.T30T NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 30 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.T30T(2) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CAGTGGGCACGGACTACTGGT 0.443000 81 43 0 0 0.002852 0 0 FAM115A 9747 broad.mit.edu 37 7 143573471 143573471 + Silent SNP G T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:143573471G>T uc003wdo.2 - 1 364 c.231C>A c.(229-231)ctC>ctA p.L77L FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Silent_p.L77L NM_014719 NP_001193870 Q9Y4C2 F115A_HUMAN Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA. 77 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) CTGCGTTCAGGAGAAAGGGCG 0.622000 17 12 1.61879e-10 3.15846e-10 0.001368 1 0 FRMPD2 143162 broad.mit.edu 37 10 49420096 49420096 + Silent SNP G A A rs116034209 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:49420096G>A uc001jgi.3 - 12 1843 c.1512C>T c.(1510-1512)atC>atT p.I504I FRMPD2_uc001jgh.3_Silent_p.I472I|FRMPD2_uc001jgj.3_Silent_p.I473I NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 504 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TCATCCTCTCGATCAGACTCG 0.532000 23 8 0 0 0.004482 0 0 BSND 7809 broad.mit.edu 37 1 55472798 55472798 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:55472798C>T uc001cye.3 + 2 644 c.401C>T c.(400-402)cCt>cTt p.P134L NM_057176 NP_476517 Q8WZ55 BSND_HUMAN Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA. 134 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 TTGCTGGCCCCTGAGATGGGG 0.617000 47 18 0 0 0.007413 0 0 NBEA 26960 broad.mit.edu 37 13 35731359 35731359 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:35731359G>A uc021rid.1 + 20 3330 c.2796G>A c.(2794-2796)tgG>tgA p.W932* NBEA_uc021ric.1_Nonsense_Mutation_p.W932* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 932 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AATATGAATGGGGAGGCTGGA 0.383000 33 27 0 0 0.003954 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218228 130218228 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:130218228G>A uc004evz.3 + 4 940 c.595G>A c.(595-597)Gga>Aga p.G199R ARHGAP36_uc004ewa.3_Missense_Mutation_p.G187R|ARHGAP36_uc004ewb.3_Missense_Mutation_p.G168R|ARHGAP36_uc004ewc.3_Missense_Mutation_p.G63R NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 199 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GCTGGAAGACGGAGCCCTGCT 0.468000 6 13 0 0 0.003163 0 0 MRPL1 65008 broad.mit.edu 37 4 78792967 78792967 + Missense_Mutation SNP T G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:78792967T>G uc003hku.2 + 1 299 c.101T>G c.(100-102)gTa>gGa p.V34G NM_020236 NP_064621 Q9BYD6 RM01_HUMAN Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA. 34 RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1) 17 TCTTGTTCTGTAAACATCCGA 0.299000 45 19 0 0 0.002780 0 0 MME 4311 broad.mit.edu 37 3 154878182 154878182 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:154878182G>A uc010hvr.1 + 16 1816 c.1605G>A c.(1603-1605)tgG>tgA p.W535* MME_uc003fab.1_Nonsense_Mutation_p.W535*|MME_uc003fac.1_Nonsense_Mutation_p.W535*|MME_uc003fad.1_Nonsense_Mutation_p.W535*|MME_uc003fae.1_Nonsense_Mutation_p.W535* NM_007289 NP_009220 P08473 NEP_HUMAN Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA. 535 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TCTACAGGTGGATAAGTGGAG 0.323000 207 73 0 0 0.003610 0 0 HDLBP 3069 broad.mit.edu 37 2 242195761 242195761 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:242195761G>A uc002waz.3 - 6 884 c.711C>T c.(709-711)atC>atT p.I237I HDLBP_uc002wba.3_Silent_p.I237I|HDLBP_uc021vzg.1_Silent_p.I273I|HDLBP_uc010fzn.1_5'UTR NM_203346 NP_976221 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA. 237 KH 2. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ACGGCCCAGCGATGAAGGGGT 0.517000 52 13 0 0 0.002450 0 0 GPR113 165082 broad.mit.edu 37 2 26534871 26534871 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:26534871C>T uc002rhe.4 - 10 1725 c.1725G>A c.(1723-1725)cgG>cgA p.R575R GPR113_uc010yky.1_Silent_p.R506R|GPR113_uc002rhb.1_Silent_p.R178R|GPR113_uc010eyk.1_Silent_p.R376R|GPR113_uc002rhc.1_Silent_p.R178R|GPR113_uc002rhd.1_Non-coding_Transcript NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA. 575 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCAGGGCTTCCGGGCTTGGG 0.597000 65 19 0 0 0.007413 0 0 LIMCH1 22998 broad.mit.edu 37 4 41686475 41686475 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:41686475C>T uc003gvz.4 + 26 4324 c.3907C>T c.(3907-3909)Cat>Tat p.H1303Y LIMCH1_uc003gwe.4_Missense_Mutation_p.H842Y|LIMCH1_uc003gvu.4_Missense_Mutation_p.H919Y|LIMCH1_uc003gvv.4_Missense_Mutation_p.H919Y|LIMCH1_uc003gvw.4_Missense_Mutation_p.H918Y|LIMCH1_uc003gvx.4_Missense_Mutation_p.H931Y|LIMCH1_uc003gvy.4_Missense_Mutation_p.H747Y|LIMCH1_uc003gwa.4_Missense_Mutation_p.H759Y|LIMCH1_uc011byu.2_Missense_Mutation_p.H752Y|LIMCH1_uc003gwc.4_Missense_Mutation_p.H764Y|LIMCH1_uc003gwd.4_Missense_Mutation_p.H752Y|LIMCH1_uc011byv.2_Missense_Mutation_p.H669Y|LIMCH1_uc011byw.2_Missense_Mutation_p.H218Y NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 919 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 CCATGAAGACCATCAGCTGGA 0.463000 29 9 0 0 0.006214 0 0 LOC399753 399753 broad.mit.edu 37 10 49218498 49218498 + Silent SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:49218498A>G uc001jgd.3 - 7 1800 c.1641T>C c.(1639-1641)tcT>tcC p.S547S DQ588224_uc001jge.1_5'Flank Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA. GCTGGCCCAGAGACAGCTCAG 0.582000 55 4 0 0 0.006214 0 0 TCR-_alpha_V_33.1 0 broad.mit.edu 37 14 22783182 22783182 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:22783182C>T uc001wdq.2 + 1 185 c.178C>T c.(178-180)Ctt>Ttt p.L60F TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 40, partial cds, clone: un 107. GTACCCTACCCTTTTCTGGTA 0.478000 11 17 0 0 0.001523 0 0 C1orf222 339457 broad.mit.edu 37 1 1855330 1855330 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:1855330C>T uc001aik.3 - 6 1121 c.271G>A c.(271-273)Gcc>Acc p.A91T C1orf222_uc001ail.3_Missense_Mutation_p.A91T Q69YW0 CA222_HUMAN RecName: Full=Uncharacterized protein C1orf222; 91 breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TTGACGGGGGCCACGCTGAAC 0.602000 27 16 0 0 0.004990 0 0 FAM75A6 389730 broad.mit.edu 37 9 43626910 43626910 + Nonsense_Mutation SNP T A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:43626910T>A uc011lrb.2 - 3 1806 c.1777A>T c.(1777-1779)Aga>Tga p.R593* NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 593 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 TCCAGTTGTCTCCGGAGTTCA 0.488000 51 18 0 0 0.001882 0 0 THSD7B 80731 broad.mit.edu 37 2 137814764 137814764 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:137814764C>T uc002tva.1 + 1 821 c.821C>T c.(820-822)tCg>tTg p.S274L THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S164L NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CGGCAGGTTTCGTGTACAAGA 0.363000 19 10 0 0 0.000673 0 0 RBP3 5949 broad.mit.edu 37 10 48382189 48382189 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:48382189A>G uc001jez.3 - 3 3574 c.3460T>C c.(3460-3462)Ttc>Ctc p.F1154L NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 1154 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) ATATAGGTGAACTCCTCCGCG 0.597000 34 15 0 0 0.003163 0 0 FBXO40 51725 broad.mit.edu 37 3 121340479 121340479 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:121340479C>T uc003eeg.2 + 2 413 c.203C>T c.(202-204)tCc>tTc p.S68F NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 68 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TGCCTCAACTCCGAATATGGC 0.602000 70 17 0 0 0.007413 0 0 MARCO 8685 broad.mit.edu 37 2 119732103 119732103 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:119732103C>T uc002tln.1 + 5 707 c.575C>T c.(574-576)tCg>tTg p.S192L MARCO_uc010yyf.1_Missense_Mutation_p.S114L NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 192 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.S192W(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CCAGGCCCCTCGGGACCCCAA 0.537000 29 11 0 0 0.004990 0 0 KIAA0240 23506 broad.mit.edu 37 6 42797717 42797717 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:42797717C>T uc003osn.1 + 5 1797 c.1646C>T c.(1645-1647)gCc>gTc p.A549V KIAA0240_uc003osm.1_Missense_Mutation_p.A549V|KIAA0240_uc011duw.1_Missense_Mutation_p.A549V|KIAA0240_uc003oso.1_Missense_Mutation_p.A549V|KIAA0240_uc003osp.1_Missense_Mutation_p.A549V NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 549 NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GCCAGCACTGCCCATCCTAGT 0.547000 31 9 0 0 0.004482 0 0 LRIG3 121227 broad.mit.edu 37 12 59272618 59272618 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:59272618G>A uc001sqr.3 - 13 2317 c.2071C>T c.(2071-2073)Ctg>Ttg p.L691L LRIG3_uc009zqh.3_Silent_p.L631L|LRIG3_uc010ssh.2_Non-coding_Transcript NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA. 691 Ig-like C2-type 2. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) AGGACAGTCAGAGTTGCATTT 0.423000 T ROS1 NSCLC 53 23 0 0 0.003330 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527590 65527590 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:65527590G>A uc003xvj.2 - 3 1254 c.1050C>T c.(1048-1050)atC>atT p.I350I NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 350 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TACCTAGGCAGATTAGGCTGT 0.433000 31 18 0 0 0.001523 0 0 AP4E1 23431 broad.mit.edu 37 15 51260513 51260513 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:51260513G>A uc001zyx.2 + 14 2012 c.1905G>A c.(1903-1905)caG>caA p.Q635Q AP4E1_uc021skz.1_Silent_p.Q560Q NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA. 635 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) GACTCAGTCAGGGTGCAGCGC 0.373000 11 6 0 0 0.003080 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787095 73787095 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:73787095G>A uc011dyh.2 + 3 1014 c.667G>A c.(667-669)Ggt>Agt p.G223S KCNQ5_uc003pgj.4_Missense_Mutation_p.G223S|KCNQ5_uc011dyi.2_Missense_Mutation_p.G223S|KCNQ5_uc010kat.3_Missense_Mutation_p.G223S|KCNQ5_uc003pgk.3_Missense_Mutation_p.G223S|KCNQ5_uc011dyj.2_Missense_Mutation_p.G223S|KCNQ5_uc011dyk.2_5'UTR NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 223 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAAAACTCAGGGTAATATTTT 0.458000 41 21 0 0 0.001882 0 0 SNX33 257364 broad.mit.edu 37 15 75942128 75942128 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:75942128C>T uc002bau.3 + 0 781 c.685C>T c.(685-687)Cca>Tca p.P229S IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'UTR NM_153271 NP_695003 Q8WV41 SNX33_HUMAN Homo sapiens sorting nexin 33 (SNX33), mRNA. 229 cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 CAATCCCCACCCATTTGCCTG 0.557000 65 23 0 0 0.004656 0 0 FCGBP 8857 broad.mit.edu 37 19 40398331 40398331 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:40398331C>T uc002omp.4 - 13 6644 c.6636G>A c.(6634-6636)ggG>ggA p.G2212G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 2212 VWFD 5. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGTTGTAGTTCCCGCATAAGC 0.692000 90 24 0 0 0.002096 0 0 MAG 4099 broad.mit.edu 37 19 35793435 35793435 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:35793435A>G uc002nyy.2 + 6 1253 c.1055A>G c.(1054-1056)aAc>aGc p.N352S MAG_uc002nyx.2_Missense_Mutation_p.N352S|MAG_uc010eds.2_Missense_Mutation_p.N327S|MAG_uc002nyz.2_Missense_Mutation_p.N352S NM_002361 NP_001186145 P20916 MAG_HUMAN Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA. 352 Ig-like C2-type 3. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding p.S351R(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) ACACAGAGCAACCCGGACCCT 0.602000 31 16 0 0 0.003163 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161017585 161017585 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:161017585G>A uc001fxl.3 - 11 3572 c.3226C>T c.(3226-3228)Cct>Tct p.P1076S USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Missense_Mutation_p.P865S|ARHGAP30_uc001fxm.3_Missense_Mutation_p.P922S|ARHGAP30_uc009wtx.3_Missense_Mutation_p.P749S NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 1076 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGGGGGTCAGGAACCTGGGGT 0.582000 52 30 0 0 0.007291 0 0 KIAA1199 57214 broad.mit.edu 37 15 81181826 81181826 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:81181826G>A uc002bfw.1 + 8 1239 c.979G>A c.(979-981)Gag>Aag p.E327K KIAA1199_uc010unn.1_Missense_Mutation_p.E327K NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 327 p.T326M(1) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGAGTGGACGGAGTGGTTCGA 0.483000 42 17 0 0 0.001216 0 0 GPR149 344758 broad.mit.edu 37 3 154138913 154138913 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:154138913C>T uc003faa.3 - 2 1638 c.1538G>A c.(1537-1539)aGa>aAa p.R513K NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA. 513 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGACAGTCTTCTTTCTGGCCC 0.413000 54 48 0 0 0.002852 0 0 CYTIP 9595 broad.mit.edu 37 2 158300433 158300434 + Missense_Mutation DNP GG AA AA TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:158300433_158300434GG>AA uc002tzj.1 - 0 171_172 c.99_100CC>TT c.(97-102)agcctt>agTTtt p.L34F CYTIP_uc010zcl.1_Intron NM_004288 NP_004279 O60759 CYTIP_HUMAN Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA. 34 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TCCATCGTAAGGCTGCCGGTGA 0.500000 53 30 0 0 0.004672 0 0 SPINK5 11005 broad.mit.edu 37 5 147488359 147488359 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:147488359G>A uc003lox.2 + 17 1724 c.1651G>A c.(1651-1653)Ggg>Agg p.G551R SPINK5_uc010jgs.1_Missense_Mutation_p.G523R|SPINK5_uc010jgr.2_Missense_Mutation_p.G532R|SPINK5_uc003low.2_Missense_Mutation_p.G551R|SPINK5_uc003loy.2_Missense_Mutation_p.G551R NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 551 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) agaagaaaaagggaaagtcga 0.363000 56 21 0 0 0.001882 0 0 NLK 51701 broad.mit.edu 37 17 26370206 26370206 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:26370206C>T uc010crj.3 + 0 519 c.307C>T c.(307-309)Cct>Tct p.P103S NM_016231 NP_057315 Q9UBE8 NLK_HUMAN Homo sapiens nemo-like kinase (NLK), mRNA. 103 Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGGGCAGGCTCCTGGACCAGC 0.627000 23 17 0 0 0.006122 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342357 60342357 + RNA SNP T G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:60342357T>G uc010woz.2 - 13 c.1772A>C Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 TATCCAGCCATGAGCCCTGGC 0.488000 79 4 0 0 0.001984 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18021672 18021672 + Silent SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:18021672C>A uc001ban.3 + 27 3363 c.3204C>A c.(3202-3204)gtC>gtA p.V1068V ARHGEF10L_uc001bao.3_Silent_p.V1029V|ARHGEF10L_uc001bap.3_Silent_p.V1024V|ARHGEF10L_uc001baq.3_Silent_p.V829V|ARHGEF10L_uc010ocs.2_Silent_p.V841V|ARHGEF10L_uc001bar.3_Silent_p.V771V|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Silent_p.V92V NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA. 1068 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) ACTTGTGTGTCACCAGCCTCC 0.632000 41 24 9.86323e-18 1.93466e-17 0.003954 1 0 LOC645752 645752 broad.mit.edu 37 15 78211452 78211452 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:78211452C>T uc010bky.2 - 10 1079 c.315G>A c.(313-315)gaG>gaA p.E105E Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA. CTCGGATCATCTCCTCCTGCT 0.577000 68 40 0 0 0.005524 0 0 DSPP 1834 broad.mit.edu 37 4 88533324 88533324 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:88533324C>T uc003hqu.3 + 2 239 c.119C>T c.(118-120)tCa>tTa p.S40L NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN Homo sapiens dentin sialophosphoprotein (DSPP), mRNA. 40 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent p.S40*(2) breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) CTAGCAAGATCAAATGTGTCA 0.358000 15 11 0 0 0.000978 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507600 74507600 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:74507600C>T uc001dfy.4 - 6 1207 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 339 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 TCCACAATTTCATCTTCAGAC 0.308000 22 7 0 0 0.006214 0 0 L1TD1 54596 broad.mit.edu 37 1 62676159 62676159 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:62676159G>A uc021ooc.1 + 4 2148 c.1713G>A c.(1711-1713)aaG>aaA p.K571K L1TD1_uc001dae.4_Silent_p.K571K NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 571 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 AGCATAAAAAGCATTCACATA 0.418000 26 12 0 0 0.001368 0 0 CDCA2 157313 broad.mit.edu 37 8 25341639 25341639 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:25341639C>T uc003xep.1 + 9 1755 c.1278C>T c.(1276-1278)ttC>ttT p.F426F DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Silent_p.F426F|CDCA2_uc003xeq.1_Silent_p.F411F|CDCA2_uc003xer.1_Silent_p.F89F NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN Homo sapiens cell division cycle associated 2 (CDCA2), mRNA. 426 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AAAAAGACTTCAGTGGTCTCA 0.433000 56 34 0 0 0.002445 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105915153 105915153 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:105915153G>A uc002tcq.3 - 2 782 c.698C>T c.(697-699)gCc>gTc p.A233V TGFBRAP1_uc010fjc.3_Missense_Mutation_p.A3V|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.A233V NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA. 233 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TGCGACTGTGGCAAACATGCC 0.532000 16 7 0 0 0.001984 0 0 COX10 1352 broad.mit.edu 37 17 14110519 14110520 + Missense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:14110519_14110520CC>TT uc002gof.4 + 6 1525_1526 c.1321_1322CC>TT c.(1321-1323)cct>TTt p.P441F COX10_uc010vvs.2_Missense_Mutation_p.P224F|COX10_uc010vvt.2_Missense_Mutation_p.P249F NM_001303 NP_001294 Q12887 COX10_HUMAN Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA. 441 heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CGCAGGGCCCCCTCCCAGCTGA 0.644000 11 5 0 0 0.004672 0 0 MTUS2 23281 broad.mit.edu 37 13 29600696 29600696 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:29600696G>A uc001usl.4 + 0 1949 c.1891G>A c.(1891-1893)Gaa>Aaa p.E631K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 621 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CTATCAGGTTGAAAAAACAGA 0.522000 17 14 0 0 0.002450 0 0 CYP2C19 1557 broad.mit.edu 37 10 96495020 96495020 + Splice_Site SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:96495020G>A uc001kjv.4 + 9 1618 c.1292_splice c.e9-1 p.G431_splice CYP2C19_uc001kjw.4_Splice_Site_p.G372_splice|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron NM_000772 NP_000763 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA. 431 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTATTTTCAGGAAAACGGATG 0.408000 39 20 0 0 0.001882 0 0 UMPS 7372 broad.mit.edu 37 3 124456817 124456817 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:124456817C>T uc003ehl.4 + 2 819 c.713C>T c.(712-714)cCa>cTa p.P238L UMPS_uc011bkb.2_Missense_Mutation_p.P146L|UMPS_uc003ehn.4_Missense_Mutation_p.P60L|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Missense_Mutation_p.P60L|UMPS_uc011bkc.2_Missense_Mutation_p.P60L|UMPS_uc011bkd.2_Missense_Mutation_p.P60L NM_000373 NP_000364 P11172 UMPS_HUMAN Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA. 238 OMPdecase. 'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) AGGATCCACCCAGTTGCATCG 0.498000 51 30 0 0 0.002445 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175233 193175233 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:193175233C>T uc003ftd.3 - 14 1804 c.1696G>A c.(1696-1698)Gat>Aat p.D566N ATP13A4_uc003fte.1_Missense_Mutation_p.D566N|ATP13A4_uc011bsr.1_Missense_Mutation_p.D37N|ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 566 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.D566N(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATGTGGAAATCGTCCCCAGAA 0.478000 100 30 0 0 0.001786 0 0 LOC646214 646214 broad.mit.edu 37 15 21937686 21937686 + RNA SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:21937686G>A uc010tzj.1 - 0 c.3054C>T Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. TTCCAGAAGGGAAGCCATCTT 0.498000 22 4 0 0 0.000248 0 0 FAM135B 51059 broad.mit.edu 37 8 139263132 139263132 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:139263132G>A uc003yuy.3 - 5 665 c.494C>T c.(493-495)tCg>tTg p.S165L FAM135B_uc003yux.3_Missense_Mutation_p.S66L|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 165 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) GACGGTCACCGAGATCACAGA 0.582000 HNSCC(54;0.14) 67 34 0 0 0.002445 0 0 THSD7B 80731 broad.mit.edu 37 2 138033582 138033582 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:138033582G>A uc002tva.1 + 10 2393 c.2393G>A c.(2392-2394)gGg>gAg p.G798E THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G688E NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGTGGAAAGGGGTTACAAACA 0.388000 25 11 0 0 0.000978 0 0 TRIM29 23650 broad.mit.edu 37 11 120008370 120008370 + Nonsense_Mutation SNP T A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:120008370T>A uc001pwz.3 - 0 494 c.370A>T c.(370-372)Aag>Tag p.K124* TRIM29_uc001pxa.3_Non-coding_Transcript NM_012101 NP_036233 Q14134 TRI29_HUMAN Homo sapiens tripartite motif containing 29 (TRIM29), mRNA. 124 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) AGCTCGCCCTTTTCGGCAAAG 0.632000 54 62 0 0 0.003610 0 0 C2orf89 129293 broad.mit.edu 37 2 85051299 85051299 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:85051299G>A uc010ysl.2 - 5 1201 c.1112C>T c.(1111-1113)cCc>cTc p.P371L C2orf89_uc002sou.4_Missense_Mutation_p.P322L NM_001080824 NP_001074293 Q86V40 CB089_HUMAN Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA. 371 integral to membrane breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3) 18 GGACAGAGTGGGCCGTGTGGA 0.567000 20 10 0 0 0.001368 0 0 CHD5 26038 broad.mit.edu 37 1 6206355 6206355 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:6206355G>A uc001amb.2 - 10 1830 c.1719C>T c.(1717-1719)ccC>ccT p.P573P CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 573 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGGCATAGAGGGGGTCCTTGT 0.547000 58 33 0 0 0.003271 0 0 GOLGA6L10 647042 broad.mit.edu 37 15 82635194 82635194 + Missense_Mutation SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:82635194T>C uc021ssn.1 - 8 1476 c.1376A>G c.(1375-1377)gAa>gGa p.E459G NM_001164465 NP_001157937 A6NI86 GG6LA_HUMAN Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA. 459 endometrium(1)|kidney(4) 5 TGCAGCCTCTTCTGCTCCTCC 0.507000 9 7 0 0 0.001984 0 0 SLC7A6 9057 broad.mit.edu 37 16 68328619 68328619 + Missense_Mutation SNP T A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:68328619T>A uc002evt.2 + 8 1347 c.1034T>A c.(1033-1035)gTg>gAg p.V345E SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evu.2_Missense_Mutation_p.V345E|SLC7A6_uc010cfc.1_Non-coding_Transcript NM_001076785 NP_003974 Q92536 YLAT2_HUMAN Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 (SLC7A6), transcript variant 1, mRNA. 345 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) TTGTTCTTCGTGGGCTCCCGG 0.498000 111 58 0 0 0.003610 0 0 MYO5B 4645 broad.mit.edu 37 18 47581679 47581679 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:47581679C>T uc002leb.2 - 1 385 c.97G>A c.(97-99)Gaa>Aaa p.E33K MYO5B_uc021ukb.1_Missense_Mutation_p.E32K NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 33 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TTGTCTCCTTCTTTGTAGTCC 0.537000 51 26 0 0 0.007291 0 0 CCDC88C 440193 broad.mit.edu 37 14 91875053 91875053 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:91875053G>A uc010aty.3 - 2 374 c.220C>T c.(220-222)Cgc>Tgc p.R74C CCDC88C_uc010twk.1_Missense_Mutation_p.R38C|CCDC88C_uc021ryl.1_Missense_Mutation_p.R66C|CCDC88C_uc001xzl.4_Missense_Mutation_p.R74C NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 74 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTCTGAATGCGAAGGTTCACA 0.458000 28 8 0 0 0.004482 0 0 GLI2 2736 broad.mit.edu 37 2 121747129 121747129 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:121747129C>T uc010flp.3 + 12 3669 c.3639C>T c.(3637-3639)tcC>tcT p.S1213S GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.S885S|GLI2_uc002tmu.4_Silent_p.S868S NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 1213 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GAGCCCCCTCCCAGGGCATCC 0.662000 10 5 0 0 0.000602 0 0 CTNND2 1501 broad.mit.edu 37 5 11117663 11117663 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:11117663C>T uc003jfa.1 - 12 2321 c.2176G>A c.(2176-2178)Gga>Aga p.G726R CTNND2_uc010itt.2_Missense_Mutation_p.G635R|CTNND2_uc011cmy.1_Missense_Mutation_p.G389R|CTNND2_uc011cmz.1_Missense_Mutation_p.G293R|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G293R NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 726 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.A725A(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GCCTCCTCTCCGGCCGAACTA 0.527000 48 27 0 0 0.004656 0 0 VILL 50853 broad.mit.edu 37 3 38043243 38043243 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:38043243G>A uc003chj.3 + 12 1657 c.1371G>A c.(1369-1371)gaG>gaA p.E457E VILL_uc003chl.3_Silent_p.E457E|VILL_uc010hgu.3_Silent_p.E287E NM_015873 NP_056957 O15195 VILL_HUMAN Homo sapiens villin-like (VILL), mRNA. 457 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton p.E457*(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GCAACGCTGAGGAACTAGATG 0.612000 21 12 0 0 0.001855 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318902 79318902 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:79318902G>A uc010mpk.3 - 8 7751 c.7627C>T c.(7627-7629)Cgt>Tgt p.R2543C PRUNE2_uc004akj.4_5'UTR|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_5'UTR|PRUNE2_uc022bih.1_Missense_Mutation_p.R2365C NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 2543 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGTGCATGACGATCTTCATTC 0.363000 67 73 0 0 0.003610 0 0 NBPF10 100132406 broad.mit.edu 37 1 145301820 145301820 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:145301820C>T uc021oul.1 + 6 1124 c.1089C>T c.(1087-1089)ctC>ctT p.L363L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L363L|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Silent_p.L92L|NBPF10_uc021oum.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 363 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) CTGAGGAGCTCAGGTGAGGGG 0.542000 186 10 0 0 0.003163 0 0 CNNM2 54805 broad.mit.edu 37 10 104831540 104831540 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:104831540C>T uc001kwm.3 + 5 2340 c.2177C>T c.(2176-2178)tCc>tTc p.S726F CNNM2_uc001kwn.3_Intron NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA. 726 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GTTCCTTTGTCCCTGTCTCGT 0.448000 89 26 0 0 0.001786 0 0 MAGI1 9223 broad.mit.edu 37 3 65350400 65350400 + Splice_Site SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:65350400C>A uc003dmn.3 - 20 3817 c.3291_splice c.e20-1 p.R1097_splice MAGI1_uc003dmm.3_Splice_Site_p.R1125_splice|MAGI1_uc003dmo.3_Splice_Site_p.R1126_splice|MAGI1_uc003dmp.3_Splice_Site_p.R1030_splice NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 1126 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) TGGTGGTATTCCTGCCAAAGT 0.393000 32 17 1.67942e-08 3.25952e-08 0.006122 1 0 DHCR7 1717 broad.mit.edu 37 11 71146749 71146749 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:71146749C>T uc001oqk.3 - 8 1350 c.1100G>A c.(1099-1101)cGc>cAc p.R367H DHCR7_uc001oql.3_Missense_Mutation_p.R367H NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 367 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) GATGAGGCAGCGCCCATCCGT 0.662000 Smith-Lemli-Opitz syndrome 33 10 0 0 0.000673 0 0 PKHD1 5314 broad.mit.edu 37 6 51918863 51918863 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:51918863C>T uc003pah.1 - 19 2213 c.1937G>A c.(1936-1938)tGg>tAg p.W646* PKHD1_uc003pai.3_Nonsense_Mutation_p.W646* NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 646 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CGTGAGACTCCAGTCACAGGT 0.502000 27 11 0 0 0.000673 0 0 NPHP3 27031 broad.mit.edu 37 3 132440868 132440868 + Missense_Mutation SNP G C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:132440868G>C uc003epe.2 - 0 436 c.332C>G c.(331-333)tCc>tGc p.S111C NPHP3-AS1_uc003epg.1_5'Flank|NPHP3_uc003epf.2_5'UTR|NPHP3-AS1_uc010htu.2_5'Flank NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA. 111 Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCGGCCCATGGACAACAACTC 0.672000 14 40 0 0 0.003610 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939042 2939042 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:2939042C>T uc001ajz.3 + 0 997 c.792C>T c.(790-792)ttC>ttT p.F264F NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 264 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) AGGCCCTGTTCGTGCCCCAGC 0.642000 72 24 0 0 0.002780 0 0 ZBTB46 140685 broad.mit.edu 37 20 62407230 62407230 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:62407230G>A uc002ygv.2 - 2 1224 c.1023C>T c.(1021-1023)ctC>ctT p.L341L ZBTB46_uc002ygu.3_Non-coding_Transcript NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA. 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CTCCTCCCAGGAGACCCTCCT 0.677000 33 14 0 0 0.001855 0 0 NFIC 4782 broad.mit.edu 37 19 3434309 3434309 + Silent SNP C T T rs112569402 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:3434309C>T uc010xhi.2 + 4 814 c.744C>T c.(742-744)tcC>tcT p.S248S NFIC_uc002lxo.3_Silent_p.S239S|NFIC_uc010xhh.2_Silent_p.S239S|NFIC_uc010xhj.2_Silent_p.S248S|NFIC_uc002lxp.3_Silent_p.S248S NM_001245002 NP_001231931 P08651 NFIC_HUMAN Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA. 248 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CCAACTTCTCCCTGGGGGAGC 0.612000 30 19 0 0 0.007413 0 0 CHST8 64377 broad.mit.edu 37 19 34180240 34180240 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:34180240C>T uc002nus.4 + 2 578 c.73C>T c.(73-75)Ctc>Ttc p.L25F CHST8_uc002nut.4_Missense_Mutation_p.L25F|CHST8_uc002nuu.3_Missense_Mutation_p.L25F NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 25 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) AGCTGCAGGCCTCCTCCTCTT 0.637000 69 42 0 0 0.003214 0 0 ADAM29 11086 broad.mit.edu 37 4 175898526 175898526 + Missense_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:175898526A>T uc003iuc.3 + 4 2520 c.1850A>T c.(1849-1851)cAt>cTt p.H617L ADAM29_uc003iud.3_Missense_Mutation_p.H617L|ADAM29_uc010irr.3_Missense_Mutation_p.H617L|ADAM29_uc011cki.2_Missense_Mutation_p.H617L|ADAM29_uc021xuo.1_Missense_Mutation_p.H617L NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 617 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CACTGTGTCCATATAACCATC 0.423000 48 31 0 0 0.003271 0 0 CMYA5 202333 broad.mit.edu 37 5 79089359 79089359 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:79089359C>T uc003kgc.3 + 11 11961 c.11889C>T c.(11887-11889)tcC>tcT p.S3963S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 3963 B30.2/SPRY. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCATCTGCTCCAGCTCGGCTG 0.602000 40 22 0 0 0.002780 0 0 ATAD5 79915 broad.mit.edu 37 17 29162147 29162147 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:29162147G>A uc002hfs.1 + 1 1391 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K ATAD5_uc002hft.1_Missense_Mutation_p.E247K NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA. 350 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AAAGCAATTTGAAATGGAAAA 0.363000 35 7 0 0 0.001984 0 0 BC128131 0 broad.mit.edu 37 19 23159296 23159296 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:23159296C>T uc002nqz.1 - 1 677 c.651G>A c.(649-651)gaG>gaA p.E217E BC128131_uc002nqy.1_Non-coding_Transcript Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371). TGTAGGGTTTCTCTCCAGCAT 0.418000 12 7 0 0 0.004482 0 0 APOC4 346 broad.mit.edu 37 19 45448414 45448415 + RNA DNP GG TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:45448414_45448415GG>TT uc002pah.3 + 2 c.276_277GG>TT NM_001646 P55056 APOC4_HUMAN Homo sapiens apolipoprotein C-IV (APOC4), mRNA. lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis high-density lipoprotein particle|very-low-density lipoprotein particle lipid transporter activity breast(1)|endometrium(1)|lung(2) 4 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178) AGCACCTTCCGGGGCTTCATGC 0.594000 284 6 0 0 0.004672 0 0 CRB1 23418 broad.mit.edu 37 1 197298036 197298036 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:197298036G>A uc001gtz.3 + 1 764 c.555G>A c.(553-555)ttG>ttA p.L185L CRB1_uc010poz.2_Silent_p.L116L|CRB1_uc001gty.2_Silent_p.L185L|CRB1_uc009wza.3_Silent_p.L185L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.L185L NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 185 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ACTGCGACTTGGAAGTGGATG 0.483000 28 12 0 0 0.000978 0 0 ITPKB 3707 broad.mit.edu 37 1 226827257 226827257 + Splice_Site SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:226827257C>A uc010pvo.2 - 6 2893 c.2553_splice c.e6+1 p.L851_splice NM_002221 NP_002212 P27987 IP3KB_HUMAN Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA. 851 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCCAGACTCACCAGGATGTTA 0.582000 61 12 1.05317e-09 2.04675e-09 0.002450 1 0 RBKS 64080 broad.mit.edu 37 2 28055587 28055587 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:28055587G>A uc002rlo.1 - 5 583 c.572C>T c.(571-573)aCc>aTc p.T191I RBKS_uc010ezi.1_Missense_Mutation_p.T124I|RBKS_uc010ymg.2_Missense_Mutation_p.T191I NM_022128 NP_071411 Q9H477 RBSK_HUMAN Homo sapiens ribokinase (RBKS), mRNA. 191 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) ATCTGAGAGGGTGTAGAACTG 0.413000 64 27 0 0 0.007291 0 0 PPP6C 5537 broad.mit.edu 37 9 127923119 127923119 + Splice_Site SNP C G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:127923119C>G uc010mwv.3 - 4 569 c.348_splice c.e4+1 p.M116_splice PPP6C_uc004bpg.4_Splice_Site_p.M79_splice|PPP6C_uc010mww.3_Intron|PPP6C_uc011lzr.2_Intron NM_001123355 NP_001116827 O00743 PPP6_HUMAN Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA. 79 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TGTTTACATACCATAAATATG 0.328000 13 16 0 0 0.004990 0 0 RORC 6097 broad.mit.edu 37 1 151787564 151787564 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:151787564C>T uc001ezh.3 - 4 744 c.636G>A c.(634-636)gaG>gaA p.E212E RORC_uc001ezg.3_Silent_p.E191E|RORC_uc010pdo.2_Silent_p.E266E|RORC_uc010pdp.2_Silent_p.E212E NM_005060 NP_005051 P51449 RORG_HUMAN Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA. 212 Hinge (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCTCTCTGCCCTCAGCCTTGC 0.592000 24 9 0 0 0.000673 0 0 SPRR4 163778 broad.mit.edu 37 1 152944543 152944543 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:152944543C>T uc001fav.1 + 1 240 c.177C>T c.(175-177)acC>acT p.T59T SPRR4_uc021ozm.1_Silent_p.T59T NM_173080 NP_775103 Q96PI1 SPRR4_HUMAN Homo sapiens small proline-rich protein 4 (SPRR4), mRNA. 59 Gln-rich. keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CGAAAGGCACCATCATTCCAG 0.527000 42 21 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179639084 179639084 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179639084C>T uc021vsy.1 - 29 7132 c.6907G>A c.(6907-6909)Gat>Aat p.D2303N TTN_uc021vsz.1_Missense_Mutation_p.D2257N|TTN_uc021vta.1_Missense_Mutation_p.D2257N|TTN_uc021vtb.1_Missense_Mutation_p.D2257N|TTN_uc002unb.2_Missense_Mutation_p.D2303N|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2303 Ig-like 12. 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) AGCTCCACATCATTATGATAC 0.398000 65 17 0 0 0.006122 0 0 C10orf71 118461 broad.mit.edu 37 10 50530672 50530672 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:50530672G>A uc021pqb.1 + 0 82 c.82G>A c.(82-84)Gag>Aag p.E28K C10orf71_uc021pqa.1_Missense_Mutation_p.E27K|C10orf71_uc021pqc.1_Missense_Mutation_p.E28K NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 28 endometrium(1) 1 TGCAGACAGGGAGGTGAGCAG 0.552000 9 6 0 0 0.001984 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140855819 140855819 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140855819G>A uc003lkv.2 + 0 251 c.136G>A c.(136-138)Gct>Act p.A46T PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.A46T|PCDHGC5_uc003lkw.2_Intron NM_002588 NP_002579 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA. 44 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGGGTTTCGCTGTGGGCAA 0.562000 87 7 0 0 0.003080 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564927 46564927 + Missense_Mutation SNP G A A rs139294318 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:46564927G>A uc001ncv.2 - 6 954 c.640C>T c.(640-642)Ccc>Tcc p.P214S AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.P214S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P214S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P214S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P214S|AMBRA1_uc001ncx.2_Missense_Mutation_p.P214S NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 214 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CCATCTATGGGGATCTCTGGT 0.527000 45 15 0 0 0.004990 0 0 AGBL4 84871 broad.mit.edu 37 1 49100233 49100233 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:49100233G>A uc010omx.1 - 8 1077 c.919C>T c.(919-921)Ccc>Tcc p.P307S AGBL4_uc001cru.2_Missense_Mutation_p.P295S|AGBL4_uc010omw.1_Missense_Mutation_p.P28S|AGBL4_uc010omy.1_Missense_Mutation_p.P118S|AGBL4_uc001crv.1_Missense_Mutation_p.P148S NM_032785 NP_116174 Q5VU57 CBPC6_HUMAN Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA. 295 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) CATGGAGAGGGATCCAGCCAG 0.488000 8 5 0 0 0.001168 0 0 DDX3X 1654 broad.mit.edu 37 X 41198307 41198307 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:41198307C>T uc004dfe.3 + 2 977 c.122C>T c.(121-123)cCt>cTt p.P41L DDX3X_uc010nhf.1_Intron|DDX3X_uc011mks.2_Missense_Mutation_p.P41L|DDX3X_uc004dff.3_Missense_Mutation_p.P41L|DDX3X_uc011mkq.2_Intron|DDX3X_uc011mkr.2_Missense_Mutation_p.P41L|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript NM_001356 NP_001347 O00571 DDX3X_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA. 41 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TATATTCCTCCTCATTTAAGG 0.313000 HNSCC(61;0.18) 9 9 0 0 0.000673 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140778884 140778884 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140778884C>T uc003lkf.2 + 0 1190 c.1190C>T c.(1189-1191)tCg>tTg p.S397L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.S397L NM_018925 NP_061748 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA. 403 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAAAAATTCGTATAAGTTG 0.458000 29 14 0 0 0.002450 0 0 NUAK2 81788 broad.mit.edu 37 1 205272618 205272618 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:205272618G>A uc001hce.3 - 6 1974 c.1847C>T c.(1846-1848)aCc>aTc p.T616I NM_030952 NP_112214 Q9H093 NUAK2_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA. 616 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CTGTCGGTAGGTCGCTGTCAC 0.642000 27 25 0 0 0.003330 0 0 CFH 3075 broad.mit.edu 37 1 196871680 196871680 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:196871680C>T uc001gtp.3 + 1 328 c.191C>T c.(190-192)tCa>tTa p.S64L CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.S63L|CFH_uc001gto.3_Missense_Mutation_p.S64L NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 365 Sushi 1. complement activation, alternative pathway extracellular space p.S64L(1)|p.S63L(1) 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 GTGACTCCTTCAGGAAGTTAC 0.393000 76 41 0 0 0.007835 0 0 UNC13C 440279 broad.mit.edu 37 15 54306718 54306718 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:54306718G>A uc021smr.1 + 0 1618 c.1618G>A c.(1618-1620)Gat>Aat p.D540N UNC13C_uc021sms.1_Missense_Mutation_p.D540N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 540 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTCACAGAGTGATTTTTTCAC 0.368000 15 17 0 0 0.006122 0 0 DGUOK 1716 broad.mit.edu 37 2 74177814 74177814 + Missense_Mutation SNP C G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:74177814C>G uc002sjx.3 + 3 631 c.546C>G c.(544-546)agC>agG p.S182R DGUOK_uc002sjy.3_Intron|DGUOK_uc002sjz.3_Intron NM_080916 NP_550438 Q16854 DGUOK_HUMAN Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 182 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 AGTTTGCCAGCCGGATCACAT 0.443000 143 61 0 0 0.003610 0 0 KIAA1804 84451 broad.mit.edu 37 1 233511808 233511808 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:233511808G>A uc001hvt.4 + 6 2083 c.1822G>A c.(1822-1824)Gaa>Aaa p.E608K KIAA1804_uc001hvu.4_Missense_Mutation_p.E54K NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 608 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) AGATTGCAAAGAAAGGTACGT 0.348000 26 11 0 0 0.002450 0 0 AKT2 208 broad.mit.edu 37 19 40740978 40740978 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:40740978G>A uc002onf.3 - 12 1639 c.1340C>T c.(1339-1341)tCc>tTc p.S447F AKT2_uc010egs.3_Missense_Mutation_p.S404F|AKT2_uc010xvj.2_Missense_Mutation_p.S385F|AKT2_uc010egt.3_Missense_Mutation_p.S385F|AKT2_uc010egu.2_Missense_Mutation_p.S385F|AKT2_uc002one.3_Missense_Mutation_p.S343F NM_001626 NP_001229957 P31751 AKT2_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA. 447 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.Q446H(1) breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) GATTGTGATGGACTGGGCGGT 0.602000 A """ovarian, pancreatic """ 127 56 0 0 0.003610 0 0 CPN2 1370 broad.mit.edu 37 3 194062946 194062946 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:194062946C>T uc003fts.3 - 1 576 c.486G>A c.(484-486)agG>agA p.R162R CPN2_uc021xix.1_Silent_p.R162R NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 162 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GGAAGAGCCTCCTGGGCAGGG 0.642000 33 20 0 0 0.007413 0 0 SIN3B 23309 broad.mit.edu 37 19 16962281 16962282 + Missense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:16962281_16962282CC>TT uc002ney.2 + 5 808_809 c.785_786CC>TT c.(784-786)acc>aTT p.T262I SIN3B_uc002new.3_Missense_Mutation_p.T262I|SIN3B_uc002nez.2_Missense_Mutation_p.T262I NM_015260 NP_056075 O75182 SIN3B_HUMAN Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA. 262 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CACGACAAGACCCCGGAGCACA 0.653000 52 23 0 0 0.004672 0 0 KIAA0913 23053 broad.mit.edu 37 10 75552441 75552442 + Missense_Mutation DNP CC TG TG TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:75552441_75552442CC>TG uc001jvj.3 + 9 2399_2400 c.2144_2145CC>TG c.(2143-2145)acc>aTG p.T715M KIAA0913_uc001jve.3_Missense_Mutation_p.T715M|KIAA0913_uc009xrl.3_Missense_Mutation_p.T715M|KIAA0913_uc001jvf.3_Missense_Mutation_p.T715M|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.T138M|KIAA0913_uc010qkr.2_Missense_Mutation_p.T138M NM_001242488 NP_001229417 A7E2V4 K0913_HUMAN Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA. 715 zinc ion binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6) 19 Prostate(51;0.0112) CTTCCCAAAACCAAAGAGGCAG 0.604000 35 5 0 0 0.004672 0 0 MAPK4 5596 broad.mit.edu 37 18 48190772 48190772 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:48190772G>A uc002lev.3 + 1 1444 c.444G>A c.(442-444)agG>agA p.R148R MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.R148R NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 148 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TGCTGCACAGGGACCTGAAGC 0.572000 30 9 0 0 0.006214 0 0 CHRM4 1132 broad.mit.edu 37 11 46406905 46406905 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:46406905C>T uc001nct.1 - 0 1203 c.1203G>A c.(1201-1203)acG>acA p.T401T NM_000741 NP_000732 P08173 ACM4_HUMAN Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA. 401 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity p.T401T(2) breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TGGCAAAGATCGTTCGTGTCA 0.617000 18 10 0 0 0.006214 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555341 44555341 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:44555341C>T uc010xdb.2 - 0 1109 c.873G>A c.(871-873)atG>atA p.M291I KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CCTGGGAGGTCATGGCCTCAA 0.617000 270 10 0 0 0.001855 0 0 MERTK 10461 broad.mit.edu 37 2 112785928 112785928 + Splice_Site SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:112785928G>A uc002thk.1 + 19 2609 c.2487_splice c.e19-1 p.L829_splice MERTK_uc002thl.1_Splice_Site_p.L653_splice NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 829 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TAACTTTCAGGTATGAAATAA 0.408000 30 18 0 0 0.006122 0 0 CSTA 1475 broad.mit.edu 37 3 122056407 122056407 + Missense_Mutation SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:122056407T>C uc003eex.3 + 1 209 c.80T>C c.(79-81)cTt>cCt p.L27P NM_005213 NP_005204 P01040 CYTA_HUMAN Homo sapiens cystatin A (stefin A) (CSTA), mRNA. 27 keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity p.Q26Q(1) large_intestine(2)|lung(2) 4 GBM - Glioblastoma multiforme(114;0.155) AAACCACAGCTTGAAGAAAAA 0.358000 74 29 0 0 0.005443 0 0 ADAM2 2515 broad.mit.edu 37 8 39626920 39626920 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:39626920C>T uc003xnj.3 - 11 1278 c.1203G>A c.(1201-1203)ggG>ggA p.G401G ADAM2_uc003xnk.3_Silent_p.G382G|ADAM2_uc011lck.2_Silent_p.G401G|ADAM2_uc003xnl.3_Silent_p.G275G NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 401 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CCTGTTCAGTCCCACAGTCAC 0.428000 30 18 0 0 0.003954 0 0 CCKAR 886 broad.mit.edu 37 4 26483390 26483391 + Missense_Mutation DNP GG AA AA TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:26483390_26483391GG>AA uc003gse.1 - 4 1309_1310 c.1156_1157CC>TT c.(1156-1158)ccc>TTc p.P386F NM_000730 NP_000721 P32238 CCKAR_HUMAN Homo sapiens cholecystokinin A receptor (CCKAR), mRNA. 386 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GGGGCAGCAGGGGAAGGTGGCC 0.619000 69 18 0 0 0.004672 0 0 TIMD4 91937 broad.mit.edu 37 5 156381564 156381564 + Missense_Mutation SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:156381564C>A uc003lwh.2 - 1 319 c.262G>T c.(262-264)Ggg>Tgg p.G88W TIMD4_uc010jii.2_Missense_Mutation_p.G88W NM_138379 NP_612388 Q96H15 TIMD4_HUMAN Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA. 88 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGATAGTCCCCTGAAGTCTA 0.532000 412 9 0.00448238 0.00863165 0.004482 1 0 PPRC1 23082 broad.mit.edu 37 10 103907120 103907120 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:103907120C>T uc001kum.3 + 8 4410 c.4371C>T c.(4369-4371)tcC>tcT p.S1457S PPRC1_uc001kun.3_Silent_p.S1337S|PPRC1_uc010qqj.2_Intron|PPRC1_uc009xxa.3_Intron NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 1457 Arg-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GGTCCAGGTCCCTCTCCCCCC 0.547000 28 20 0 0 0.002299 0 0 SLC22A5 6584 broad.mit.edu 37 5 131728257 131728258 + Missense_Mutation DNP CC TT TT rs60376624 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:131728257_131728258CC>TT uc003kwx.4 + 8 1736_1737 c.1472_1473CC>TT c.(1471-1473)tcc>tTT p.S491F SLC22A5_uc003kww.4_Missense_Mutation_p.S467F|SLC22A5_uc010jdr.1_Missense_Mutation_p.S87F NM_003060 NP_003051 O76082 S22A5_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA. 467 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GGAGTCAGCTCCACAGCATCCC 0.550000 32 24 0 0 0.004672 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450857 85450857 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:85450857G>A uc001tac.3 + 7 2397 c.2286G>A c.(2284-2286)aaG>aaA p.K762K LRRIQ1_uc021rbo.1_Silent_p.K640K|LRRIQ1_uc001taa.1_Silent_p.K737K NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 762 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ATCAACAAAAGAAAATTGTTA 0.378000 136 69 0 0 0.003610 0 0 BRWD3 254065 broad.mit.edu 37 X 79985494 79985494 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:79985494C>T uc004edt.3 - 12 1416 c.1153G>A c.(1153-1155)Gat>Aat p.D385N BRWD3_uc004edp.3_Missense_Mutation_p.D214N|BRWD3_uc004edq.3_5'UTR|BRWD3_uc010nmj.2_5'UTR|BRWD3_uc004edr.3_Missense_Mutation_p.D55N|BRWD3_uc004eds.3_5'UTR|BRWD3_uc004edo.3_5'UTR|BRWD3_uc004edu.3_Missense_Mutation_p.D55N|BRWD3_uc004edv.3_5'UTR|BRWD3_uc004edw.3_5'UTR|BRWD3_uc004edx.3_5'UTR|BRWD3_uc004edy.3_5'UTR|BRWD3_uc004edz.3_Missense_Mutation_p.D55N|BRWD3_uc004eea.3_Missense_Mutation_p.D55N|BRWD3_uc004eeb.3_5'UTR NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 385 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GCCGTTCCATCTCGACTTCCA 0.303000 8 11 0 0 0.000978 0 0 ETV7 51513 broad.mit.edu 37 6 36339258 36339258 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:36339258G>A uc003omb.3 - 4 772 c.513C>T c.(511-513)ttC>ttT p.F171F ETV7_uc003olz.2_Silent_p.F171F|ETV7_uc003oma.2_Silent_p.F116F|ETV7_uc003omc.3_Silent_p.F116F|ETV7_uc010jwj.3_Silent_p.F112F|ETV7_uc010jwi.3_Intron|ETV7_uc010jwh.3_Silent_p.F90F|ETV7_uc011dtl.2_Silent_p.F20F NM_016135 NP_001193970 Q9Y603 ETV7_HUMAN Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA. 171 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CCAGGTGGCCGAAGTTGCTGG 0.637000 17 6 0 0 0.001984 0 0 SSRP1 6749 broad.mit.edu 37 11 57099698 57099698 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:57099698A>G uc001njt.3 - 7 1196 c.929T>C c.(928-930)cTc>cCc p.L310P NM_003146 NP_003137 Q08945 SSRP1_HUMAN Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA. 310 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding p.S309S(1) breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 CATCTCATAGAGGGATCCTGA 0.532000 57 25 0 0 0.004656 0 0 PLA2G3 50487 broad.mit.edu 37 22 31533697 31533697 + Splice_Site SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:31533697C>T uc003aka.3 - 4 1195 c.1066_splice c.e4+1 p.G356_splice NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 356 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TGAGCTCACCCTGAGGTTTTA 0.592000 85 37 0 0 0.005524 0 0 SSH3 54961 broad.mit.edu 37 11 67077252 67077252 + Missense_Mutation SNP C T T rs149176266 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:67077252C>T uc001okj.3 + 11 1400 c.1222C>T c.(1222-1224)Cac>Tac p.H408Y SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Missense_Mutation_p.H262Y NM_017857 NP_060327 Q8TE77 SSH3_HUMAN Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA. 408 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) ACAGGGCACCCACGTGCTGGT 0.647000 35 15 0 0 0.004990 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112693 148112693 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:148112693G>A uc003weu.2 + 23 4497 c.3981G>A c.(3979-3981)aaG>aaA p.K1327K CNTNAP2_uc003wev.2_Silent_p.K104K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 1327 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) AAAGCAAAAAGGAATGGCTCA 0.522000 HNSCC(39;0.1) 31 19 0 0 0.007413 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967114 58967114 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:58967114A>G uc002qsv.1 + 3 910 c.803A>G c.(802-804)aAg>aGg p.K268R ZNF324B_uc002qsu.1_Missense_Mutation_p.K258R|ZNF324B_uc010euq.1_Missense_Mutation_p.K268R NM_207395 NP_997278 Q6AW86 Z324B_HUMAN Homo sapiens zinc finger protein 324B (ZNF324B), mRNA. 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GTGTTCGTGAAGAGCTCCGAC 0.652000 31 8 0 0 0.000673 0 0 LOC440518 440518 broad.mit.edu 37 19 22785429 22785429 + RNA SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:22785429G>A uc002nqu.4 + 7 c.1518G>A Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA. GCTGATGCAGGAAAAGGTGGA 0.582000 41 15 0 0 0.002450 0 0 PKP1 5317 broad.mit.edu 37 1 201252992 201252992 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:201252992C>T uc001gwd.3 + 0 413 c.162C>T c.(160-162)tcC>tcT p.S54S PKP1_uc001gwe.3_Silent_p.S54S|PKP1_uc009wzm.3_5'UTR NM_000299 NP_000290 Q13835 PKP1_HUMAN Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA. 54 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 GGCAGAAGTCCAAGTCTTCCC 0.627000 57 12 0 0 0.001368 0 0 GRM8 2918 broad.mit.edu 37 7 126173891 126173891 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:126173891G>A uc003vlr.2 - 7 1856 c.1545C>T c.(1543-1545)gtC>gtT p.V515V GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.V515V|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 515 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCAGGCTGCAGACAGACGCCG 0.502000 HNSCC(24;0.065) 37 23 0 0 0.007291 0 0 ANO10 55129 broad.mit.edu 37 3 43618707 43618707 + Silent SNP T G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:43618707T>G uc003cmv.3 - 5 810 c.639A>C c.(637-639)ggA>ggC p.G213G ANO10_uc011azs.2_Silent_p.G213G|ANO10_uc003cmw.3_Silent_p.G147G|ANO10_uc010hil.3_Intron|ANO10_uc011azt.2_Silent_p.G102G NM_018075 NP_060545 Q9NW15 ANO10_HUMAN Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA. 213 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 ACTCCAAAAATCCAAAGTACA 0.368000 22 5 0 0 0.001168 0 0 AMFR 267 broad.mit.edu 37 16 56435650 56435650 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:56435650G>A uc002eiy.3 - 7 1285 c.1080C>T c.(1078-1080)ttC>ttT p.F360F AMFR_uc002eix.3_Missense_Mutation_p.S58F NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN Homo sapiens autocrine motility factor receptor (AMFR), mRNA. 360 ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CCTACTTGTGGAAAAGATGTC 0.557000 61 25 0 0 0.007291 0 0 SPTB 6710 broad.mit.edu 37 14 65234495 65234495 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:65234495C>T uc001xht.3 - 28 6156 c.6105G>A c.(6103-6105)ggG>ggA p.G2035G SPTB_uc001xhr.3_Silent_p.G2035G|SPTB_uc001xhs.3_Silent_p.G2035G|SPTB_uc001xhu.3_Silent_p.G2035G|SPTB_uc010aqi.3_Silent_p.G696G NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 2035 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GTCCAAAGTCCCCGCTGGCCA 0.617000 37 18 0 0 0.001216 0 0 LRTM1 57408 broad.mit.edu 37 3 54958975 54958975 + Missense_Mutation SNP C T T rs141303357 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:54958975C>T uc003dhl.3 - 1 409 c.275G>A c.(274-276)gGa>gAa p.G92E CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 92 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) ATGGAAAGCTCCAGGGGCCAG 0.463000 20 17 0 0 0.004007 0 0 ATF7IP 55729 broad.mit.edu 37 12 14610217 14610217 + Missense_Mutation SNP C G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:14610217C>G uc001rbw.3 + 7 2304 c.2146C>G c.(2146-2148)Cct>Gct p.P716A ATF7IP_uc010shs.1_Intron|ATF7IP_uc001rbu.3_Missense_Mutation_p.P716A|ATF7IP_uc001rbv.1_Missense_Mutation_p.P715A|ATF7IP_uc001rbx.3_Missense_Mutation_p.P715A|ATF7IP_uc010sht.1_Intron|ATF7IP_uc001rby.4_Missense_Mutation_p.P716A|ATF7IP_uc001rca.3_Missense_Mutation_p.P716A NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 716 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 CTTTCAAACTCCTGTGAATAC 0.353000 18 5 0 0 0.001168 0 0 NIM1 167359 broad.mit.edu 37 5 43280373 43280373 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:43280373G>A uc003jno.3 + 3 1734 c.853G>A c.(853-855)Gag>Aag p.E285K NM_153361 NP_699192 Q8IY84 NIM1_HUMAN Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA. 285 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity GAGCATCCTCGAGGGCACATA 0.567000 19 11 0 0 0.000978 0 0 STAB2 55576 broad.mit.edu 37 12 104056647 104056647 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:104056647G>A uc001tjw.3 + 17 2079 c.1893G>A c.(1891-1893)gtG>gtA p.V631V NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 631 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAAATGATGTGGCAATGGAAG 0.453000 39 31 0 0 0.001512 0 0 TRIM51 84767 broad.mit.edu 37 11 55655529 55655529 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55655529G>A uc010rip.2 + 3 621 c.529G>A c.(529-531)Gaa>Aaa p.E177K TRIM51_uc010riq.2_Missense_Mutation_p.E34K NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA. 177 intracellular zinc ion binding TTTAAGGATAGAAGCAATCAG 0.388000 15 11 0 0 0.001368 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140768843 140768843 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140768843G>A uc003lkc.2 + 0 1392 c.1392G>A c.(1390-1392)ccG>ccA p.P464P PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 468 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACAACCCGCCTGGAGCCT 0.552000 65 30 0 0 0.001512 0 0 PAPPA 5069 broad.mit.edu 37 9 119158841 119158841 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:119158841C>T uc004bjn.3 + 21 5211 c.4830C>T c.(4828-4830)gaC>gaT p.D1610D PAPPA_uc011lxq.2_Silent_p.D985D NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1610 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTTGTCGGGACCCCCAGGCCC 0.517000 40 25 0 0 0.005443 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81070875 81070875 + Silent SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:81070875C>A uc001kaf.2 + 23 3602 c.3030C>A c.(3028-3030)ccC>ccA p.P1010P ZMIZ1_uc001kag.2_Silent_p.P886P|ZMIZ1_uc010qlq.1_Intron NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 1010 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCTTTAACCCCTCCTCAGCCT 0.672000 170 7 0.00307968 0.00593823 0.003080 1 0 KLRC2 3822 broad.mit.edu 37 12 10587979 10587979 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:10587979G>A uc001qyh.3 - 1 225 c.218C>T c.(217-219)gCc>gTc p.A73V KLRC2_uc010she.1_Missense_Mutation_p.A73V|KLRC2_uc001qyk.2_Missense_Mutation_p.A73V NM_002261 NP_002252 P26717 NKG2C_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA. 73 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 TAGGACCTCGGCAGTGAGCTT 0.428000 244 52 0 0 0.003610 0 0 SEC14L4 284904 broad.mit.edu 37 22 30891621 30891621 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:30891621C>T uc003aid.2 - 3 283 c.183G>A c.(181-183)gaG>gaA p.E61E SEC14L4_uc011akz.1_Silent_p.E61E|SEC14L4_uc003aie.2_Silent_p.E46E|SEC14L4_uc003aif.2_Silent_p.E7E NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 61 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GCTTCCGGAACTCCATGTGCT 0.602000 70 33 0 0 0.002836 0 0 TTN 7273 broad.mit.edu 37 2 179641514 179641514 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179641514C>T uc021vsy.1 - 27 5302 c.5077G>A c.(5077-5079)Gat>Aat p.D1693N TTN_uc021vsz.1_Missense_Mutation_p.D1647N|TTN_uc021vta.1_Missense_Mutation_p.D1647N|TTN_uc021vtb.1_Missense_Mutation_p.D1647N|TTN_uc002unb.2_Missense_Mutation_p.D1693N|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1693 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L1693H(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATAGAGATCACCTTCTTCC 0.463000 42 17 0 0 0.007413 0 0 PSG3 5671 broad.mit.edu 37 19 43373113 43373113 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:43373113G>A uc002ovd.1 - 3 921 c.783C>T c.(781-783)acC>acT p.T261T PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.T261T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.T168T|PSG3_uc002ova.2_Silent_p.T168T|PSG3_uc002ouz.2_Silent_p.T261T|PSG3_uc002ovb.3_Silent_p.T261T NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 261 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TAGGTTCACAGGTGAAGTTTA 0.478000 104 52 0 0 0.003610 0 0 EFHB 151651 broad.mit.edu 37 3 19947122 19947122 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:19947122C>T uc003cbl.4 - 5 1604 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K EFHB_uc003cbm.3_Missense_Mutation_p.E340K NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN Homo sapiens EF-hand domain family, member B (EFHB), mRNA. 470 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 ATTTGTAGTTCATGGAGCCAA 0.348000 79 39 0 0 0.002222 0 0 OR4N4 283694 broad.mit.edu 37 15 22382691 22382691 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:22382691C>T uc001yuc.1 + 6 1200 c.219C>T c.(217-219)taC>taT p.Y73Y abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.Y73Y NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATGCATCCTACTCCTTCATTG 0.478000 137 31 0 0 0.001951 0 0 PIK3CB 5291 broad.mit.edu 37 3 138402620 138402620 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:138402620C>T uc011bmq.2 - 15 2325 c.2325G>A c.(2323-2325)aaG>aaA p.K775K PIK3CB_uc011bmn.2_Silent_p.K287K|PIK3CB_uc011bmo.2_Silent_p.K221K|PIK3CB_uc011bmp.2_Silent_p.K362K NM_006219 NP_006210 P42338 PK3CB_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA. 775 G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TGTATTTGCACTTTTCAACAC 0.348000 356 141 0 0 0.003610 0 0 LRRC43 254050 broad.mit.edu 37 12 122687914 122687914 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:122687914C>T uc009zxm.3 + 11 1921 c.1896C>T c.(1894-1896)ccC>ccT p.P632P LRRC43_uc001ubw.4_Silent_p.P447P|LRRC43_uc009zxn.3_Silent_p.P393P|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank NM_001098519 NP_689972 Q8N309 LRC43_HUMAN Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA. 632 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) ACCCTGAGCCCCTGACCGTAG 0.597000 51 43 0 0 0.003610 0 0 TMEM37 140738 broad.mit.edu 37 2 120194547 120194547 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:120194547C>T uc002tly.3 + 1 138 c.104C>T c.(103-105)gCc>gTc p.A35V NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN Homo sapiens transmembrane protein 37 (TMEM37), mRNA. 35 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 ACGTGTGTGGCCCTGGCTGTG 0.607000 54 24 0 0 0.003330 0 0 CNBD1 168975 broad.mit.edu 37 8 88249250 88249250 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:88249250C>T uc003ydy.2 + 5 729 c.681C>T c.(679-681)ttC>ttT p.F227F NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA. 227 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 CAGACTCGTTCATATCTCAGA 0.378000 62 34 0 0 0.002836 0 0 SDR42E1 93517 broad.mit.edu 37 16 82032971 82032971 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:82032971G>A uc002fgu.3 - 2 1055 c.927C>T c.(925-927)ccC>ccT p.P309P NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA. 309 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GAGTGAGGAAGGGCTGGAAGT 0.453000 36 19 0 0 0.002299 0 0 MRPL47 57129 broad.mit.edu 37 3 179316479 179316479 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:179316479G>A uc003fjz.3 - 3 408 c.386C>T c.(385-387)cCa>cTa p.P129L MRPL47_uc003fka.3_Missense_Mutation_p.P19L|MRPL47_uc003fkb.3_Missense_Mutation_p.P109L NM_020409 NP_817125 Q9HD33 RM47_HUMAN Homo sapiens mitochondrial ribosomal protein L47 (MRPL47), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 129 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) TAACCGCTCTGGACTTGGCAT 0.433000 85 33 0 0 0.004878 0 0 C10orf88 80007 broad.mit.edu 37 10 124712447 124712447 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:124712447G>A uc001lgw.2 - 1 491 c.266C>T c.(265-267)tCt>tTt p.S89F C10orf88_uc001lgx.2_5'UTR NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA. 89 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) AATGCCAATAGAAGCGATTTC 0.443000 34 20 0 0 0.002299 0 0 CTNND2 1501 broad.mit.edu 37 5 11098745 11098745 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:11098745G>A uc003jfa.1 - 14 2724 c.2579C>T c.(2578-2580)cCa>cTa p.P860L CTNND2_uc010itt.2_Missense_Mutation_p.P769L|CTNND2_uc011cmy.1_Missense_Mutation_p.P523L|CTNND2_uc011cmz.1_Missense_Mutation_p.P427L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.P427L NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 860 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CAGCGTGTCTGGATTTGAGCA 0.522000 36 16 0 0 0.006122 0 0 ZNF276 92822 broad.mit.edu 37 16 89789747 89789747 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:89789747C>T uc002fos.4 + 3 733 c.636C>T c.(634-636)gcC>gcT p.A212A C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_Missense_Mutation_p.P9L|ZNF276_uc002foq.4_Silent_p.A137A|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.P9L|ZNF276_uc010cis.3_5'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Silent_p.A50A|ZNF276_uc010cit.2_5'UTR NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA. 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) GCTGCGGGGCCCTGCCCCACC 0.632000 27 14 0 0 0.001855 0 0 C1orf65 164127 broad.mit.edu 37 1 223568461 223568461 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:223568461G>A uc001hoa.2 + 0 1747 c.1644G>A c.(1642-1644)ctG>ctA p.L548L NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 548 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) TCCTGAAACTGAAAGCCGAGA 0.532000 51 22 0 0 0.001882 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657338 40657338 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:40657338G>A uc002rrx.3 - 0 107 c.83C>T c.(82-84)tCc>tTc p.S28F SLC8A1_uc002rry.3_Missense_Mutation_p.S28F|SLC8A1_uc002rsb.2_Missense_Mutation_p.S28F|SLC8A1_uc002rrz.3_Missense_Mutation_p.S28F|SLC8A1_uc002rsa.3_Missense_Mutation_p.S28F|SLC8A1_uc002rsd.4_Missense_Mutation_p.S28F|SLC8A1_uc010fan.1_Missense_Mutation_p.S28F|SLC8A1_uc002rsc.1_Missense_Mutation_p.S28F NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 28 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) GTCCACATGGGAAAATAAGAG 0.403000 35 21 0 0 0.001882 0 0 KCNH5 27133 broad.mit.edu 37 14 63416994 63416994 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:63416994C>T uc001xfx.3 - 6 1277 c.1226G>A c.(1225-1227)tGg>tAg p.W409* KCNH5_uc001xfy.3_Nonsense_Mutation_p.W409*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.W351*|KCNH5_uc001xga.3_Nonsense_Mutation_p.W351* NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 409 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCCTCCTTCCCATATCCCAGC 0.458000 47 21 0 0 0.002780 0 0 EPPK1 83481 broad.mit.edu 37 8 144942406 144942406 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:144942406G>A uc003zaa.1 - 0 5029 c.5016C>T c.(5014-5016)atC>atT p.I1672I NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1672 cytoplasm|cytoskeleton protein binding|structural molecule activity p.L1671L(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTCCCGGACGATGAGGTCCT 0.687000 47 31 0 0 0.002096 0 0 OR5L1 219437 broad.mit.edu 37 11 55579742 55579742 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55579742G>A uc001nhw.1 + 0 800 c.800G>A c.(799-801)aGt>aAt p.S267N NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S267I(2) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TCAGGCAATAGTGGAGATGCT 0.478000 40 21 0 0 0.001523 0 0 MKL2 57496 broad.mit.edu 37 16 14340567 14340567 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:14340567G>A uc010uza.2 + 11 1605 c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K MKL2_uc002dcg.3_Missense_Mutation_p.E484K|MKL2_uc002dcj.3_5'Flank NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA. 473 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity p.E484Q(2) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTCAAGGCAGAATTGCCACC 0.507000 61 18 0 0 0.007413 0 0 SAMD7 344658 broad.mit.edu 37 3 169644379 169644379 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:169644379G>A uc003fgd.3 + 5 596 c.329G>A c.(328-330)aGa>aAa p.R110K SAMD7_uc003fge.3_Missense_Mutation_p.R110K|SAMD7_uc011bpo.2_Missense_Mutation_p.R11K NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 110 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CAGCAAAGGAGAATGGAAAAA 0.423000 25 23 0 0 0.006320 0 0 CUL9 23113 broad.mit.edu 37 6 43153772 43153772 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:43153772C>T uc003ouk.3 + 3 905 c.830C>T c.(829-831)cCa>cTa p.P277L CUL9_uc003ouj.1_Missense_Mutation_p.P277L|CUL9_uc003oul.3_Missense_Mutation_p.P277L|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 277 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 AATAGCAGTCCAGAGCTGGGA 0.552000 35 15 0 0 0.003163 0 0 GPC5 2262 broad.mit.edu 37 13 93518546 93518546 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:93518546G>A uc010tif.2 + 7 1939 c.1573G>A c.(1573-1575)Gat>Aat p.D525N NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 525 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) GATGCCAGATGATATGAACTT 0.433000 29 13 0 0 0.003163 0 0 MICAL3 57553 broad.mit.edu 37 22 18304832 18304832 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:18304832C>T uc002zng.4 - 23 3765 c.3412G>A c.(3412-3414)Gag>Aag p.E1138K MICAL3_uc011agl.2_Missense_Mutation_p.E1054K NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 1138 Glu-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGCAGCTTCTCCTCATCTTCC 0.577000 79 23 0 0 0.005443 0 0 ZNF662 389114 broad.mit.edu 37 3 42955929 42955929 + Missense_Mutation SNP G A A rs147863526 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:42955929G>A uc003cmk.2 + 3 628 c.442G>A c.(442-444)Gaa>Aaa p.E148K ZNF662_uc003cmi.2_Missense_Mutation_p.E122K|ZNF662_uc003cmj.2_Missense_Mutation_p.E14K NM_001134656 NP_001128128 Q6ZS27 ZN662_HUMAN Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA. 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) TGGATCCCAGGAATTATGGTT 0.438000 21 16 0 0 0.004990 0 0 FRYL 285527 broad.mit.edu 37 4 48545929 48545929 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:48545929G>A uc003gyh.1 - 43 6092 c.5487C>T c.(5485-5487)tcC>tcT p.S1829S FRYL_uc003gyg.1_Silent_p.S525S|FRYL_uc003gyi.1_Silent_p.S717S|FRYL_uc003gyj.1_Silent_p.S124S NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 1829 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AAATCTGAAAGGATCTCCCAG 0.453000 26 17 0 0 0.004990 0 0 OR4K15 81127 broad.mit.edu 37 14 20443908 20443908 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:20443908C>T uc010tkx.2 + 0 231 c.231C>T c.(229-231)tcC>tcT p.S77S NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA. 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTCAGATTCCCGCCTTCACA 0.433000 74 40 0 0 0.002852 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761312 92761312 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:92761312C>T uc003umh.1 - 4 5189 c.3973G>A c.(3973-3975)Gag>Aag p.E1325K SAMD9L_uc003umj.1_Missense_Mutation_p.E1325K|SAMD9L_uc003umi.1_Missense_Mutation_p.E1325K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1325K|SAMD9L_uc003umk.1_Missense_Mutation_p.E1325K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1325K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1325K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E1325K NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1325 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CAATTCTCCTCCTGGAGTAAT 0.393000 24 20 0 0 0.007413 0 0 USP24 23358 broad.mit.edu 37 1 55545290 55545290 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:55545290G>A uc021onw.1 - 59 7374 c.7121C>T c.(7120-7122)cCc>cTc p.P2374L USP24_uc001cyg.4_Missense_Mutation_p.P2208L NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA. 2374 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 AGGGCTTGAGGGAGCAATGCT 0.448000 67 33 0 0 0.002096 0 0 ELFN2 114794 broad.mit.edu 37 22 37771193 37771193 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:37771193G>A uc003asq.4 - 2 1168 c.382C>T c.(382-384)Cgc>Tgc p.R128C ELFN2_uc021wph.1_Missense_Mutation_p.R128C NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 128 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) AACTGCAGGCGGCTCATGCCT 0.632000 55 23 0 0 0.002299 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95480910 95480910 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:95480910C>T uc010fhq.2 - 1 1470 c.1078G>A c.(1078-1080)Gag>Aag p.E360K ANKRD20A2_uc010fhp.3_Non-coding_Transcript NM_001012421 NP_001012421 Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA. 780 large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 TTACTTTTCTCTTCTAGTACG 0.353000 104 55 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179569665 179569665 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179569665C>T uc021vsy.1 - 100 26126 c.25901G>A c.(25900-25902)aGg>aAg p.R8634K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5295K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9561 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R8634H(1)|p.R8634C(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTTCGTCCCTCTCTGACCT 0.328000 79 26 0 0 0.007291 0 0 FANK1 92565 broad.mit.edu 37 10 127677178 127677178 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:127677178C>T uc009yan.3 + 2 354 c.250C>T c.(250-252)Cgc>Tgc p.R84C FANK1_uc010quk.1_Missense_Mutation_p.R78C|FANK1_uc001ljh.4_Missense_Mutation_p.R84C|FANK1_uc001lji.3_Missense_Mutation_p.R78C NM_145235 NP_660278 Q8TC84 FANK1_HUMAN Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA. 84 Fibronectin type-III. cytoplasm|nucleus p.R84H(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) GTACAGATTTCGCCTGAAGGT 0.522000 109 55 0 0 0.003610 0 0 PTPRD 5789 broad.mit.edu 37 9 8492971 8492971 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:8492971G>A uc003zkk.3 - 26 3101 c.2358C>T c.(2356-2358)atC>atT p.I786I PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 786 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCCCAGAAATGATCATGTCCT 0.483000 TSP Lung(15;0.13) 27 31 0 0 0.003755 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092719 151092719 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:151092719C>T uc022cgv.1 + 0 583 c.583C>T c.(583-585)Cag>Tag p.Q195* MAGEA4_uc004fez.3_Nonsense_Mutation_p.Q195*|MAGEA4_uc004ffa.3_Nonsense_Mutation_p.Q195*|MAGEA4_uc004ffb.3_Nonsense_Mutation_p.Q195*|MAGEA4_uc022cgu.1_Nonsense_Mutation_p.Q223*|MAGEA4_uc004ffc.3_Nonsense_Mutation_p.Q195*|MAGEA4_uc004ffd.3_Nonsense_Mutation_p.Q195* NM_002362 NP_002353 P43358 MAGA4_HUMAN Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA. 195 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGGTAATAATCAGATCTTTCC 0.547000 16 34 0 0 0.002836 0 0 PHRF1 57661 broad.mit.edu 37 11 591394 591394 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:591394C>T uc001lqe.3 + 4 562 c.431C>T c.(430-432)tCc>tTc p.S144F PHRF1_uc010qwc.2_Missense_Mutation_p.S144F|PHRF1_uc010qwd.2_Missense_Mutation_p.S143F|PHRF1_uc010qwe.2_Missense_Mutation_p.S140F|PHRF1_uc009ybz.1_5'Flank NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA. 144 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 AATGCCAATTCCTGTCCAGTT 0.383000 9 4 0 0 0.000602 0 0 COL6A6 131873 broad.mit.edu 37 3 130311917 130311917 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:130311917G>A uc010htl.3 + 14 4415 c.4384G>A c.(4384-4386)Gaa>Aaa p.E1462K COL6A6_uc003eni.4_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1462 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AGAAGTTGGGGAAAATGGAAT 0.368000 234 73 0 0 0.003610 0 0 KRT84 3890 broad.mit.edu 37 12 52779212 52779212 + Missense_Mutation SNP C T T rs143172691 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:52779212C>T uc001sah.1 - 0 206 c.158G>A c.(157-159)cGg>cAg p.R53Q NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN Homo sapiens keratin 84 (KRT84), mRNA. 53 Head. keratin filament structural constituent of epidermis p.R53Q(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GATGACACTCCGACTACCAAA 0.582000 17 15 0 0 0.003163 0 0 KAT6A 7994 broad.mit.edu 37 8 41792152 41792152 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:41792152G>A uc010lxb.3 - 17 4130 c.3586C>T c.(3586-3588)Cct>Tct p.P1196S KAT6A_uc010lxc.3_Missense_Mutation_p.P1196S|KAT6A_uc003xon.4_Missense_Mutation_p.P1196S NM_001099412 NP_006757 Q92794 MYST3_HUMAN Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA. 1196 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CCAGCTTTAGGAATGGAAACG 0.483000 76 38 0 0 0.006999 0 0 AQP8 343 broad.mit.edu 37 16 25232851 25232851 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:25232851C>T uc002doc.3 + 2 416 c.334C>T c.(334-336)Ccg>Tcg p.P112S NM_001169 NP_001160 O94778 AQP8_HUMAN Homo sapiens aquaporin 8 (AQP8), mRNA. 112 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) GATGCTCCTCCCGTACTGGGT 0.622000 61 28 0 0 0.001512 0 0 TSGA10 80705 broad.mit.edu 37 2 99725409 99725409 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:99725409G>A uc002szg.4 - 4 725 c.97C>T c.(97-99)Cgt>Tgt p.R33C TSGA10_uc002szh.4_Missense_Mutation_p.R33C|TSGA10_uc002szi.4_Missense_Mutation_p.R33C|TSGA10_uc010fin.1_Missense_Mutation_p.R33C|TSGA10_uc010yvn.1_Missense_Mutation_p.R33C NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA. 33 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 AGTTCTTCACGATCTCTTGTT 0.343000 31 12 0 0 0.001368 0 0 C17orf78 284099 broad.mit.edu 37 17 35736186 35736186 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:35736186G>A uc002hns.3 + 2 307 c.257G>A c.(256-258)aGa>aAa p.R86K ACACA_uc002hnn.3_Intron|ACACA_uc002hno.3_Intron|ACACA_uc002hnq.2_Intron|C17orf78_uc010cva.1_Missense_Mutation_p.R86K NM_173625 NP_775896 Q8N4C9 CQ078_HUMAN Homo sapiens chromosome 17 open reading frame 78 (C17orf78), mRNA. 86 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) TATTTGGAGAGAAGGCCAAAG 0.463000 99 49 0 0 0.003610 0 0 MYLK 4638 broad.mit.edu 37 3 123367818 123367818 + Splice_Site SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:123367818G>A uc003ego.3 - 26 4697 c.4415_splice c.e26+1 p.S1472_splice MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.S272_splice|MYLK_uc011bjw.2_Splice_Site_p.S1472_splice|MYLK_uc003egp.3_Splice_Site_p.S1403_splice|MYLK_uc003egq.3_Splice_Site_p.S1472_splice|MYLK_uc003egr.3_Splice_Site_p.S1403_splice|MYLK_uc003egs.3_Splice_Site_p.S1296_splice NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1472 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.S1472Y(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTCCACTTACGATCCTAATCT 0.527000 48 22 0 0 0.003954 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3673398 3673398 + Missense_Mutation SNP G A A rs150431597 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:3673398G>A uc002wja.3 - 14 3800 c.3800C>T c.(3799-3801)cCg>cTg p.P1267L SIGLEC1_uc002wiz.4_Missense_Mutation_p.P1267L|SIGLEC1_uc002wjb.1_5'UTR NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 1267 Ig-like C2-type 13. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GGCAGCCTCCGGAGCCAGGAT 0.657000 36 18 0 0 0.007413 0 0 OR1N2 138882 broad.mit.edu 37 9 125316390 125316390 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:125316390G>A uc011lyx.2 + 0 942 c.942G>A c.(940-942)atG>atA p.M314I NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 ACAGAGACATGAAGGAGGCTT 0.408000 18 18 0 0 0.006122 0 0 ENPP3 5169 broad.mit.edu 37 6 132014660 132014660 + Missense_Mutation SNP C G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:132014660C>G uc003qcu.4 + 15 1655 c.1308C>G c.(1306-1308)ttC>ttG p.F436L ENPP3_uc003qcv.3_Missense_Mutation_p.F436L|ENPP3_uc010kfq.3_Non-coding_Transcript NM_005021 NP_005012 O14638 ENPP3_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA. 436 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) ATCAGCATTTCAAGCCCTATT 0.373000 44 22 0 0 0.004656 0 0 EDN3 1908 broad.mit.edu 37 20 57876515 57876515 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:57876515C>T uc002yap.3 + 1 472 c.103C>T c.(103-105)Cag>Tag p.Q35* EDN3_uc002yao.1_Nonsense_Mutation_p.Q35*|EDN3_uc002yaq.3_Nonsense_Mutation_p.Q35*|EDN3_uc002yar.3_Nonsense_Mutation_p.Q35*|EDN3_uc002yas.3_Nonsense_Mutation_p.Q35* NM_000114 NP_996917 P14138 EDN3_HUMAN Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. 35 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity p.S34F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) CGGCGTGTCCCAGGCCCCCAC 0.662000 19 7 0 0 0.004482 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21448671 21448671 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:21448671C>T uc001rer.3 - 8 1382 c.1131G>A c.(1129-1131)atG>atA p.M377I SLCO1A2_uc010siq.2_Missense_Mutation_p.M245I|SLCO1A2_uc001res.3_Missense_Mutation_p.M377I|SLCO1A2_uc010sio.2_Missense_Mutation_p.M245I|SLCO1A2_uc010sip.2_Missense_Mutation_p.M245I|SLCO1A2_uc001ret.3_Missense_Mutation_p.M375I|SLCO1A2_uc001reu.2_Missense_Mutation_p.M357I NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 377 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TGAACTTCTTCATAATTAAAC 0.289000 21 8 0 0 0.000673 0 0 OR8K5 219453 broad.mit.edu 37 11 55926886 55926886 + Missense_Mutation SNP T C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55926886T>C uc010rja.2 - 0 908 c.908A>G c.(907-909)aAg>aGg p.K303R NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CTCAAAGAGCTTATAGAAGGC 0.274000 18 9 0 0 0.001368 0 0 ZNF214 7761 broad.mit.edu 37 11 7022704 7022704 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:7022704C>T uc009yfh.1 - 2 509 c.210G>A c.(208-210)tgG>tgA p.W70* ZNF214_uc001mfa.2_Nonsense_Mutation_p.W70*|ZNF214_uc010ray.1_Nonsense_Mutation_p.W70* NM_013249 NP_037381 Q9UL59 ZN214_HUMAN Homo sapiens zinc finger protein 214 (ZNF214), mRNA. 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) CAGCATTCCACCAGCCTTGCC 0.403000 148 56 0 0 0.003610 0 0 GABRB3 2562 broad.mit.edu 37 15 26828491 26828491 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:26828491C>T uc001zbb.3 - 5 803 c.700G>A c.(700-702)Gaa>Aaa p.E234K GABRB3_uc021sgg.1_Missense_Mutation_p.E107K|GABRB3_uc021sgh.1_Missense_Mutation_p.E93K|GABRB3_uc001zaz.3_Missense_Mutation_p.E178K|GABRB3_uc001zba.3_Missense_Mutation_p.E178K NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 178 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.S234T(1) 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) CTTTCAATTTCCAGAGTGCAG 0.428000 46 22 0 0 0.002299 0 0 PRSS38 339501 broad.mit.edu 37 1 228005126 228005126 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:228005126G>A uc001hrh.3 + 2 528 c.528G>A c.(526-528)gtG>gtA p.V176V NM_183062 NP_898885 A1L453 PRS38_HUMAN Homo sapiens protease, serine, 38 (PRSS38), mRNA. 176 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CTCCAGAAGTGAACCTTACCA 0.552000 26 35 0 0 0.003755 0 0 ASCC2 84164 broad.mit.edu 37 22 30185011 30185011 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:30185011G>A uc003agr.3 - 19 2409 c.2265C>T c.(2263-2265)atC>atT p.I755I ASCC2_uc011akr.2_Silent_p.I679I|ASCC2_uc003ags.3_Non-coding_Transcript NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA. 755 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CTCAGGATGGGATCATGCCTT 0.632000 81 38 0 0 0.005524 0 0 SPTB 6710 broad.mit.edu 37 14 65239389 65239389 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:65239389G>A uc001xht.3 - 24 5513 c.5462C>T c.(5461-5463)cCc>cTc p.P1821L SPTB_uc001xhr.3_Missense_Mutation_p.P1821L|SPTB_uc001xhs.3_Missense_Mutation_p.P1821L|SPTB_uc001xhu.3_Missense_Mutation_p.P1821L|SPTB_uc010aqi.3_Missense_Mutation_p.P482L NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1821 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CACGTCCTCGGGCAGCTCGCG 0.667000 49 22 0 0 0.003330 0 0 STYK1 55359 broad.mit.edu 37 12 10774548 10774548 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:10774548G>A uc001qys.2 - 9 1512 c.991C>T c.(991-993)Cct>Tct p.P331S NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. 331 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CTGGTAGGAGGGACTTCAGGA 0.418000 HNSCC(73;0.22) 78 37 0 0 0.007835 0 0 NAV1 89796 broad.mit.edu 37 1 201752716 201752716 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:201752716C>T uc021phi.1 + 6 2887 c.2540C>T c.(2539-2541)cCc>cTc p.P847L NAV1_uc001gwu.3_Missense_Mutation_p.P847L|NAV1_uc001gwv.1_Missense_Mutation_p.P355L|NAV1_uc001gww.2_Missense_Mutation_p.P456L|NAV1_uc001gwx.3_Missense_Mutation_p.P456L|NAV1_uc001gwy.1_Missense_Mutation_p.P228L NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 847 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AGTCCGGCACCCATCCTCAAT 0.557000 215 47 0 0 0.003214 0 0 NFKB2 4791 broad.mit.edu 37 10 104157399 104157399 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:104157399C>T uc001kvb.3 + 7 883 c.618C>T c.(616-618)tcC>tcT p.S206S NFKB2_uc001kva.3_Silent_p.S206S|NFKB2_uc010qqk.1_Silent_p.S206S|NFKB2_uc001kvd.3_Silent_p.S206S|NFKB2_uc009xxc.3_Silent_p.S206S NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA. 206 RHD. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) GCTCCTTCTCCCTGCCCCTGA 0.577000 T IGH@ B-NHL 115 37 0 0 0.006999 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370342 35370342 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:35370342C>T uc001byc.3 - 0 643 c.643G>A c.(643-645)Ggc>Agc p.G215S NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 215 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) CCTCCAGAGCCCGGGCCGGGG 0.652000 19 16 0 0 0.003163 0 0 FRMPD2 143162 broad.mit.edu 37 10 49457125 49457125 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:49457125G>A uc001jgi.3 - 2 579 c.248C>T c.(247-249)cCt>cTt p.P83L FRMPD2_uc001jgh.3_Missense_Mutation_p.P74L|FRMPD2_uc001jgj.3_Missense_Mutation_p.P74L NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 83 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GGCCTTGAAAGGAGCAGCCTC 0.532000 19 10 0 0 0.000673 0 0 GRIA1 2890 broad.mit.edu 37 5 153054204 153054204 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:153054204G>A uc011dcy.2 + 5 901 c.874G>A c.(874-876)Gac>Aac p.D292N GRIA1_uc003lva.4_Missense_Mutation_p.D282N|GRIA1_uc003luy.4_Missense_Mutation_p.D282N|GRIA1_uc003luz.4_Missense_Mutation_p.D187N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.D202N|GRIA1_uc011dcx.2_Missense_Mutation_p.D213N|GRIA1_uc011dcz.2_Missense_Mutation_p.D292N|GRIA1_uc010jia.1_Missense_Mutation_p.D262N NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 282 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CACACGGGTGGACTGGAAGAG 0.537000 33 17 0 0 0.004007 0 0 GPR112 139378 broad.mit.edu 37 X 135469928 135469928 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:135469928G>A uc004ezu.1 + 15 8097 c.7806G>A c.(7804-7806)ggG>ggA p.G2602G GPR112_uc010nsb.1_Silent_p.G2397G NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2602 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGTGGGAGGGATTTTGGCTT 0.413000 14 47 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82579822 82579822 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:82579822G>A uc003uhx.2 - 5 10371 c.10082C>T c.(10081-10083)gCt>gTt p.A3361V PCLO_uc003uhv.2_Missense_Mutation_p.A3361V|PCLO_uc010lec.3_Missense_Mutation_p.A326V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3292 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 TGCCACAACAGCTGAAGCTGT 0.483000 7 13 0 0 0.001368 0 0 DMRTC2 63946 broad.mit.edu 37 19 42353257 42353257 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:42353257G>A uc010xwe.2 + 5 771 c.688G>A c.(688-690)Gga>Aga p.G230R DMRTC2_uc002orr.1_Missense_Mutation_p.G107R|DMRTC2_uc002ors.3_Missense_Mutation_p.G230R NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN Homo sapiens DMRT-like family C2 (DMRTC2), mRNA. 230 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CACCTGCCCAGGATCTCACCC 0.567000 69 51 0 0 0.003610 0 0 CMIP 80790 broad.mit.edu 37 16 81735267 81735267 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:81735267C>T uc002fgp.3 + 15 1830 c.1758C>T c.(1756-1758)atC>atT p.I586I CMIP_uc002fgq.2_Silent_p.I492I|CMIP_uc010vnq.2_Silent_p.I399I|CMIP_uc002fgr.2_Silent_p.I433I NM_198390 NP_938204 Q8IY22 CMIP_HUMAN Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA. 552 cytoplasm|nucleus p.I586I(2)|p.I491I(1) endometrium(5)|kidney(1)|lung(7) 13 CTGGACAGATCCTGTGCTTGA 0.557000 98 59 0 0 0.003610 0 0 PPP4R4 57718 broad.mit.edu 37 14 94718218 94718218 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:94718218C>T uc001ycs.1 + 15 2004 c.1850C>T c.(1849-1851)cCa>cTa p.P617L NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 617 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 ACACATGATCCAGTAGCAAAT 0.284000 36 14 0 0 0.004007 0 0 LRP1B 53353 broad.mit.edu 37 2 141473590 141473590 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:141473590G>A uc002tvj.1 - 36 6947 c.5975C>T c.(5974-5976)tCc>tTc p.S1992F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1992 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) CAGGCCTTGGGAAATAATTAC 0.353000 TSP Lung(27;0.18) 46 17 0 0 0.004007 0 0 WNT10A 80326 broad.mit.edu 37 2 219754737 219754737 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:219754737C>T uc002vjd.1 + 2 871 c.408C>T c.(406-408)atC>atT p.I136I NM_025216 NP_079492 Q9GZT5 WN10A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA. 136 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTACGCCATCGCAGCAGCTG 0.617000 39 25 0 0 0.006320 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899636 156899636 + Missense_Mutation SNP T A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:156899636T>A uc003lwx.4 + 5 1185 c.1069T>A c.(1069-1071)Ttc>Atc p.F357I ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.F338I NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA. 357 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 TTCCCTGGTGTTCCCCATCTA 0.542000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 27 0 0 0.001786 0 0 DDX19B 11269 broad.mit.edu 37 16 70351453 70351453 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:70351453G>A uc002eyo.3 + 4 480 c.351G>A c.(349-351)aaG>aaA p.K117K DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Intron|DDX19B_uc010vlw.2_Silent_p.K8K|DDX19B_uc002eyp.3_Intron|DDX19B_uc002eyq.3_Silent_p.K8K|DDX19B_uc010vlx.2_Intron|LOC100506083_uc002eyt.3_Intron NM_007242 NP_001014449 Q9UMR2 DD19B_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA. 117 mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) GTCCATCCAAGATACAAGAGA 0.383000 62 18 0 0 0.004656 0 0 FRMPD2 143162 broad.mit.edu 37 10 49381042 49381042 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:49381042G>A uc001jgi.3 - 24 3501 c.3170C>T c.(3169-3171)tCc>tTc p.S1057F FRMPD2_uc001jgh.3_Missense_Mutation_p.S1025F|FRMPD2_uc001jgj.3_Missense_Mutation_p.S1026F|FRMPD2_uc001jgf.3_Missense_Mutation_p.S68F|FRMPD2_uc001jgg.3_Missense_Mutation_p.S9F|FRMPD2_uc001jgk.3_Missense_Mutation_p.S9F NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 1057 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TGTTACCAAGGAAACAGCCGT 0.498000 31 54 0 0 0.003610 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503944 140503944 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:140503944C>T uc003lip.1 + 0 2364 c.2364C>T c.(2362-2364)ttC>ttT p.F788F NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 788 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCCAAGTTCAGAAATAGCT 0.408000 24 18 0 0 0.001523 0 0 NDST1 3340 broad.mit.edu 37 5 149914541 149914541 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:149914541C>T uc003lsk.4 + 4 1711 c.1209C>T c.(1207-1209)tcC>tcT p.S403S NDST1_uc011dcj.2_Silent_p.S403S|NDST1_uc003lsl.3_Silent_p.S403S NM_001543 NP_001534 P52848 NDST1_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA. 403 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACAACCAGTCCGTGTTGGCCG 0.592000 22 10 0 0 0.006214 0 0 LHPP 64077 broad.mit.edu 37 10 126172720 126172720 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:126172720C>T uc001lhs.2 + 1 229 c.138C>T c.(136-138)tcC>tcT p.S46S LHPP_uc001lht.2_Silent_p.S46S|LHPP_uc009yai.2_Silent_p.S46S NM_022126 NP_071409 Q9H008 LHPP_HUMAN Homo sapiens phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP), transcript variant 1, mRNA. 46 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity large_intestine(2)|lung(2) 4 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187) TGAAGCGTTCCCGGCTGAAGG 0.617000 18 5 0 0 0.000602 0 0 ERC2 26059 broad.mit.edu 37 3 56026138 56026138 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:56026138C>T uc021wzo.1 - 9 2342 c.2202G>A c.(2200-2202)aaG>aaA p.K734K ERC2_uc003dhr.1_Silent_p.K734K|ERC2_uc003dht.1_Silent_p.K217K NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 734 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCTCCACCTCCTTGAGGATCT 0.468000 108 73 0 0 0.003610 0 0 GUCY2C 2984 broad.mit.edu 37 12 14778782 14778782 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:14778782G>A uc001rcd.3 - 20 2454 c.2317C>T c.(2317-2319)Cga>Tga p.R773* NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 773 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.R773R(2) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TCCAGGTTTCGAGAATATAGC 0.408000 56 28 0 0 0.001786 0 0 PKD2L1 9033 broad.mit.edu 37 10 102051114 102051114 + Missense_Mutation SNP G A A rs115252223 byFrequency TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:102051114G>A uc001kqx.1 - 11 2334 c.1951C>T c.(1951-1953)Cgt>Tgt p.R651C PKD2L1_uc009xwm.1_Missense_Mutation_p.R604C NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 651 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCCAGAATACGATTCCCATCT 0.498000 49 22 0 0 0.002299 0 0 NWD1 284434 broad.mit.edu 37 19 16908556 16908556 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:16908556G>A uc002neu.4 + 15 3740 c.3318G>A c.(3316-3318)tcG>tcA p.S1106S NWD1_uc002net.4_Silent_p.S971S|NWD1_uc002nev.4_Silent_p.S900S|NWD1_uc021uqg.1_Silent_p.S971S NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1106 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTGGAAGATCGGTGCGGATAT 0.522000 60 30 0 0 0.002836 0 0 C12orf63 374467 broad.mit.edu 37 12 97078897 97078897 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:97078897C>T uc021rcc.1 + 8 1248 c.1170C>T c.(1168-1170)ctC>ctT p.L390L Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 390 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GCCCCTCACTCACCAATGTCA 0.468000 27 19 0 0 0.007413 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138413516 138413516 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:138413516C>T uc003vuf.3 - 16 2238 c.2000G>A c.(1999-2001)cGg>cAg p.R667Q ATP6V0A4_uc003vug.3_Missense_Mutation_p.R667Q|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.R667Q NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 667 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity p.R667W(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CTGGGATTTCCGATGACTGGC 0.433000 135 66 0 0 0.003610 0 0 OR5T1 390155 broad.mit.edu 37 11 56043123 56043123 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:56043123G>A uc001nio.1 + 0 9 c.9G>A c.(7-9)ggG>ggA p.G3G NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA. 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) AAATGTCAGGGTTGCCTTCAG 0.318000 144 61 0 0 0.003610 0 0 ANK3 288 broad.mit.edu 37 10 61926631 61926631 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:61926631C>T uc001jky.3 - 21 2840 c.2502G>A c.(2500-2502)atG>atA p.M834I ANK3_uc001jkx.3_Missense_Mutation_p.M12I|ANK3_uc010qih.2_Missense_Mutation_p.M817I|ANK3_uc001jkz.4_Missense_Mutation_p.M828I|ANK3_uc001jlb.1_Missense_Mutation_p.M363I|ANK3_uc001jlc.1_Missense_Mutation_p.M495I NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 834 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGGAACATTCATTTTGTGCT 0.318000 43 22 0 0 0.002780 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19713794 19713794 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:19713794C>T uc002ykw.3 - 12 1531 c.1500G>A c.(1498-1500)ggG>ggA p.G500G NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 500 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.G500G(2) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CATTGCAAATCCCATATGTTA 0.378000 38 23 0 0 0.002299 0 0 XIRP1 165904 broad.mit.edu 37 3 39226637 39226637 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:39226637C>T uc003cjk.2 - 1 4529 c.4300G>A c.(4300-4302)Gat>Aat p.D1434N XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.D117N|XIRP1_uc021wvz.1_Missense_Mutation_p.D1434N NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1434 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GAGGTGGGATCATGGTTGAGG 0.632000 46 35 0 0 0.004289 0 0 GRIN2B 2904 broad.mit.edu 37 12 13720066 13720066 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:13720066G>A uc001rbt.2 - 11 2670 c.2491C>T c.(2491-2493)Ctc>Ttc p.L831F NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 831 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.L831I(2) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGAGGCTGAGAGCCATGGCC 0.512000 51 19 0 0 0.001523 0 0 KCNK13 56659 broad.mit.edu 37 14 90650916 90650916 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:90650916C>T uc001xye.1 + 1 1238 c.796C>T c.(796-798)Ctc>Ttc p.L266F NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA. 266 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CGTCTTCATCCTCATGGGTGT 0.517000 66 22 0 0 0.002780 0 0 BEND5 79656 broad.mit.edu 37 1 49202121 49202121 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:49202121G>A uc001crx.4 - 4 942 c.898C>T c.(898-900)Cat>Tat p.H300Y AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Missense_Mutation_p.H131Y NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN Homo sapiens BEN domain containing 5 (BEND5), mRNA. 300 large_intestine(5)|lung(2)|skin(1) 8 CTTCCCAGATGGACCTGAGAG 0.478000 48 16 0 0 0.004990 0 0 ZNF341 84905 broad.mit.edu 37 20 32378973 32378973 + Nonsense_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:32378973A>T uc002wzy.3 + 14 2235 c.2215A>T c.(2215-2217)Aag>Tag p.K739* ZNF341_uc002wzx.3_Nonsense_Mutation_p.K732*|ZNF341_uc010geq.3_Nonsense_Mutation_p.K649*|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Nonsense_Mutation_p.K166* NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 739 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CCAAAAGGACAAGGACCTGCA 0.662000 18 7 0 0 0.006214 0 0 GABRR3 200959 broad.mit.edu 37 3 97744496 97744496 + RNA SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:97744496A>G uc021xbo.1 - 2 c.270T>C GABRR3_uc021xbp.1_Non-coding_Transcript NM_001105580 A8MPY1 GBRR3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA. gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity large_intestine(2)|lung(1) 3 TGGTACTGTCATCTTTCTTCA 0.398000 21 8 0 0 0.004482 0 0 OR11H1 81061 broad.mit.edu 37 22 16449682 16449682 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:16449682G>A uc011agd.2 - 0 123 c.123C>T c.(121-123)ttC>ttT p.F41F NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA. 41 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) GTGAGAAGAGGAAGATCTGAA 0.428000 103 15 0 0 0.002836 0 0 OR4N4 283694 broad.mit.edu 37 15 22382687 22382687 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:22382687C>T uc001yuc.1 + 6 1196 c.215C>T c.(214-216)tCc>tTc p.S72F abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.S72F NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTGGATGCATCCTACTCCTTC 0.483000 141 33 0 0 0.001951 0 0 USP11 8237 broad.mit.edu 37 X 47106620 47106620 + Splice_Site SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:47106620G>A uc004dhp.3 + 18 2549 c.2549_splice c.e18+1 p.R850_splice USP11_uc004dhq.3_Splice_Site_p.R576_splice NM_004651 NP_004642 P51784 UBP11_HUMAN Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA. 850 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 TTTCCTATCCGGTCAGGGGCC 0.577000 19 24 0 0 0.006320 0 0 SPTA1 6708 broad.mit.edu 37 1 158612330 158612330 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:158612330C>T uc001fst.1 - 32 4807 c.4608G>A c.(4606-4608)agG>agA p.R1536R NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1536 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCAGGTATTTCCTCTGAAGGG 0.393000 55 9 0 0 0.004482 0 0 PAK7 57144 broad.mit.edu 37 20 9546830 9546830 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:9546830C>T uc002wnl.2 - 5 1737 c.1192G>A c.(1192-1194)Gct>Act p.A398T PAK7_uc002wnk.2_Missense_Mutation_p.A398T|PAK7_uc002wnj.2_Missense_Mutation_p.A398T|PAK7_uc010gby.1_Missense_Mutation_p.A398T NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 398 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.T397K(2)|p.T397T(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AGGTAGGAAGCCGTGGAGATG 0.617000 30 16 0 0 0.004007 0 0 RECK 8434 broad.mit.edu 37 9 36083446 36083446 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:36083446C>T uc003zyv.3 + 7 610 c.524C>T c.(523-525)cCt>cTt p.P175L RECK_uc003zyu.4_Missense_Mutation_p.P175L|RECK_uc003zyw.3_Missense_Mutation_p.P47L|RECK_uc003zyx.3_Non-coding_Transcript NM_021111 NP_066934 O95980 RECK_HUMAN Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA. 175 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) GACTCTTCTCCTGGTCCATCT 0.398000 27 17 0 0 0.007413 0 0 MIXL1 83881 broad.mit.edu 37 1 226413252 226413252 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:226413252G>A uc010pvm.2 + 1 438 c.438G>A c.(436-438)ggG>ggA p.G146G NM_031944 NP_114150 Q9H2W2 MIXL1_HUMAN Homo sapiens Mix paired-like homeobox (MIXL1), mRNA. 146 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.109) GTCAGAGTGGGAAATCCTTCC 0.493000 74 40 0 0 0.003610 0 0 CNR1 1268 broad.mit.edu 37 6 88853983 88853983 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:88853983C>T uc010kbz.3 - 1 1141 c.1011G>A c.(1009-1011)atG>atA p.M337I CNR1_uc011dzr.2_Missense_Mutation_p.M337I|CNR1_uc011dzs.2_Missense_Mutation_p.M337I|CNR1_uc003pmq.4_Missense_Mutation_p.M337I|CNR1_uc011dzt.2_Missense_Mutation_p.M337I|CNR1_uc010kca.3_Missense_Mutation_p.M304I|CNR1_uc021zco.1_Missense_Mutation_p.M337I NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 337 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding p.M337I(4)|p.R336H(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ACCTAATGTCCATGCGGGCTT 0.557000 57 23 0 0 0.006320 0 0 FMN2 56776 broad.mit.edu 37 1 240256867 240256867 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:240256867G>A uc010pye.2 + 0 1683 c.1458G>A c.(1456-1458)acG>acA p.T486T FMN2_uc010pyd.2_Silent_p.T486T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 486 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTGACTGGACGGAGGAGCTAG 0.761000 7 4 0 0 0.000248 0 0 WNT3A 89780 broad.mit.edu 37 1 228238380 228238380 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:228238380C>T uc001hrp.2 + 2 444 c.337C>T c.(337-339)Cac>Tac p.H113Y WNT3A_uc001hrq.2_Missense_Mutation_p.H113Y NM_033131 NP_149122 P56704 WNT3A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA. 113 Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GGCCTTTGTCCACGCCATTGC 0.627000 50 11 0 0 0.000673 0 0 CCNA1 8900 broad.mit.edu 37 13 37014267 37014267 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:37014267C>T uc001uvr.4 + 5 1395 c.1045C>T c.(1045-1047)Ctt>Ttt p.L349F CCNA1_uc010teo.2_Missense_Mutation_p.L305F|CCNA1_uc010abq.3_Missense_Mutation_p.L305F|CCNA1_uc010abp.3_Missense_Mutation_p.L305F|CCNA1_uc001uvs.4_Missense_Mutation_p.L348F|CCNA1_uc010abr.3_Non-coding_Transcript NM_003914 NP_001104517 P78396 CCNA1_HUMAN Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA. 349 G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CCAGTTTCTCCTTCAGTACTT 0.463000 95 49 0 0 0.003610 0 0 LRRC16B 90668 broad.mit.edu 37 14 24523608 24523608 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:24523608C>T uc001wlj.2 + 4 407 c.250C>T c.(250-252)Ctg>Ttg p.L84L NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 84 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CCCCCAGATCCTGGTGGAGAC 0.617000 44 25 0 0 0.005443 0 0 ANO4 121601 broad.mit.edu 37 12 101493382 101493382 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:101493382G>A uc010svm.1 + 21 2605 c.2033G>A c.(2032-2034)aGa>aAa p.R678K ANO4_uc001thw.2_Missense_Mutation_p.R643K|ANO4_uc001thx.2_Missense_Mutation_p.R678K|ANO4_uc001thy.2_Missense_Mutation_p.R198K NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 678 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TGGACTAGAAGAAAAGTACGA 0.363000 HNSCC(74;0.22) 42 22 0 0 0.001882 0 0 NBAS 51594 broad.mit.edu 37 2 15493708 15493708 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:15493708A>G uc002rcc.1 - 33 4084 c.4058T>C c.(4057-4059)cTt>cCt p.L1353P NBAS_uc010exl.1_Missense_Mutation_p.L425P|NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 1353 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AGCTGCCAAAAGAAGTTCAAT 0.473000 84 34 0 0 0.002836 0 0 COL6A6 131873 broad.mit.edu 37 3 130368262 130368262 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:130368262G>A uc010htl.3 + 31 5620 c.5589G>A c.(5587-5589)acG>acA p.T1863T COL6A6_uc003eni.4_Intron NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1863 Nonhelical region.|VWFA 8. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGGCACACACGAGAAAAATCG 0.552000 12 7 0 0 0.001984 0 0 TRPV5 56302 broad.mit.edu 37 7 142630471 142630471 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:142630471C>T uc003wby.1 - 0 350 c.86G>A c.(85-87)tGg>tAg p.W29* TRPV5_uc003wbz.3_Nonsense_Mutation_p.W29* NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 29 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GTGCTGGTCCCAGTCTTGTTC 0.567000 49 32 0 0 0.002096 0 0 TCRVA15 0 broad.mit.edu 37 14 22205159 22205159 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:22205159G>A uc001wbp.2 + 1 272 c.223G>A c.(223-225)Gaa>Aaa p.E75K TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Intron|TCRVA15_uc021rpc.1_Non-coding_Transcript SubName: Full=Tcell alpha chain; Flags: Fragment; AGTTACAAACGAAGTGGCCTC 0.488000 8 4 0 0 0.000602 0 0 RAD9A 5883 broad.mit.edu 37 11 67161031 67161031 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:67161031C>T uc001okr.3 + 3 392 c.299C>T c.(298-300)tCc>tTc p.S100F RAD9A_uc021qmg.1_Missense_Mutation_p.S24F NM_004584 NP_004575 Q99638 RAD9A_HUMAN Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA. 100 S -> A (in dbSNP:rs2066492). DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TGCTGCATCTCCCTGAATGGC 0.602000 Other conserved DNA damage response genes 25 10 0 0 0.001855 0 0 LIPI 149998 broad.mit.edu 37 21 15524928 15524928 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:15524928G>A uc002yjm.3 - 7 1157 c.1147C>T c.(1147-1149)Cag>Tag p.Q383* LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Nonsense_Mutation_p.Q332*|LIPI_uc021whh.1_Nonsense_Mutation_p.Q356*|LIPI_uc021whi.1_Nonsense_Mutation_p.Q197*|LIPI_uc021whj.1_Intron|LIPI_uc021whe.1_Nonsense_Mutation_p.Q327*|LIPI_uc021whf.1_Nonsense_Mutation_p.Q362* NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 362 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATTCCAAGCTGATTTAATAAT 0.284000 23 8 0 0 0.006214 0 0 SLC46A3 283537 broad.mit.edu 37 13 29286936 29286936 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:29286936C>T uc001usj.3 - 2 1483 c.941G>A c.(940-942)gGa>gAa p.G314E SLC46A3_uc001usg.3_Missense_Mutation_p.G239E|SLC46A3_uc001usi.3_Missense_Mutation_p.G314E|SLC46A3_uc001ush.3_Missense_Mutation_p.G314E|SLC46A3_uc001usk.3_Missense_Mutation_p.G239E NM_001135919 NP_001129391 Q7Z3Q1 S46A3_HUMAN Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA. 314 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) AAGCCATATTCCTAGGAAACT 0.383000 47 28 0 0 0.001512 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910822 230910822 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:230910822G>A uc002vqd.2 - 3 1479 c.1020C>T c.(1018-1020)atC>atT p.I340I FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.I340I|SLC16A14_uc002vqf.3_Silent_p.I340I NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 340 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) ACAAATTGACGATTTCTGGGA 0.408000 19 9 0 0 0.000673 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361478 105361478 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:105361478G>A uc003ylx.1 + 1 747 c.698G>A c.(697-699)cGa>cAa p.R233Q NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 233 osteoclast differentiation cell surface|integral to membrane|plasma membrane TTCATGAAGCGATTTTTGGGC 0.498000 63 31 0 0 0.001512 0 0 SERPINA6 866 broad.mit.edu 37 14 94780373 94780373 + Splice_Site SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:94780373C>T uc001ycv.3 - 2 717 c.613_splice c.e2+1 p.G205_splice SERPINA6_uc010auv.3_Non-coding_Transcript NM_001756 NP_001747 P08185 CBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA. 205 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GTGGGAATACCTTTGAAGAAG 0.483000 47 24 0 0 0.003330 0 0 DDX60 55601 broad.mit.edu 37 4 169227533 169227534 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:169227533_169227534CC>TT uc003irp.3 - 4 894_895 c.602_603GG>AA c.(601-603)tgg>tAA p.W201* NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 201 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GAATTACCTTCCAGGAAAAAAT 0.371000 15 9 0 0 0.004672 0 0 PCDH18 54510 broad.mit.edu 37 4 138452990 138452990 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:138452990C>T uc003ihe.4 - 0 640 c.253G>A c.(253-255)Gaa>Aaa p.E85K PCDH18_uc003ihf.4_Missense_Mutation_p.E78K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 85 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ATGCTGATTTCCCCATTATCC 0.433000 92 34 0 0 0.004878 0 0 ZNF214 7761 broad.mit.edu 37 11 7021941 7021941 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:7021941G>A uc009yfh.1 - 2 1272 c.973C>T c.(973-975)Cac>Tac p.H325Y ZNF214_uc001mfa.2_Missense_Mutation_p.H325Y|ZNF214_uc010ray.1_Missense_Mutation_p.H325Y NM_013249 NP_037381 Q9UL59 ZN214_HUMAN Homo sapiens zinc finger protein 214 (ZNF214), mRNA. 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCTTCTGTGTGGACTCTTTGA 0.393000 47 25 0 0 0.007291 0 0 ACTC1 70 broad.mit.edu 37 15 35083353 35083353 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr15:35083353C>T uc001ziu.1 - 5 1195 c.952G>A c.(952-954)Gaa>Aaa p.E318K AK092087_uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA. 318 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly I band|actomyosin, actin part|cytosol ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GCAGTGATTTCCTTCTGCATA 0.453000 132 68 0 0 0.003610 0 0 XPO5 57510 broad.mit.edu 37 6 43536447 43536448 + Splice_Site DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:43536447_43536448CC>TT uc003ovp.3 - 6 859 c.648_splice c.e6+1 p.K216_splice NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN Homo sapiens exportin 5 (XPO5), mRNA. 216 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AGAGCTCTTACCTTTGACTCCT 0.421000 59 15 0 0 0.004672 0 0 TRBV5-1 28614 broad.mit.edu 37 7 142021150 142021150 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:142021150C>T uc011krr.1 + 1 315 c.130C>T c.(130-132)Cct>Tct p.P44S TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.P44S SubName: Full=V_segment translation product; Flags: Fragment; GAGCTGCTCCCCTATCTCTGG 0.498000 15 6 0 0 0.001984 0 0 LIFR 3977 broad.mit.edu 37 5 38482161 38482161 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:38482161G>A uc010ive.1 - 19 3162 c.2830C>T c.(2830-2832)Cat>Tat p.H944Y LIFR_uc003jli.2_Missense_Mutation_p.H944Y NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 944 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ACAACCACATGGTTTTCAGGC 0.448000 T PLAG1 salivary adenoma 85 31 0 0 0.003755 0 0 GPR113 165082 broad.mit.edu 37 2 26534617 26534617 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:26534617C>T uc002rhe.4 - 10 1979 c.1979G>A c.(1978-1980)cGa>cAa p.R660Q GPR113_uc010yky.1_Missense_Mutation_p.R591Q|GPR113_uc002rhb.1_Missense_Mutation_p.R263Q|GPR113_uc010eyk.1_Missense_Mutation_p.R461Q|GPR113_uc002rhc.1_Missense_Mutation_p.R263Q|GPR113_uc002rhd.1_Non-coding_Transcript NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA. 660 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCAGTTTTCGCAGCACCAG 0.547000 9 5 0 0 0.001168 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45503088 45503088 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:45503088C>T uc002zea.3 + 13 2312 c.2143C>T c.(2143-2145)Ccc>Tcc p.P715S TRAPPC10_uc010gpo.3_Missense_Mutation_p.P426S|TRAPPC10_uc011afa.2_Missense_Mutation_p.P134S NM_003274 NP_003265 P48553 TPC10_HUMAN Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA. 715 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 TCTAGAGATGCCCTCAGGGGT 0.567000 84 50 0 0 0.003610 0 0 HEYL 26508 broad.mit.edu 37 1 40092670 40092670 + Missense_Mutation SNP G C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:40092670G>C uc001cdp.3 - 4 547 c.496C>G c.(496-498)Ccc>Gcc p.P166A HEYL_uc010oiw.2_Missense_Mutation_p.P138A NM_014571 NP_055386 Q9NQ87 HEYL_HUMAN Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA. 166 Pro-rich. Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.T165M(1) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GGGCCAGTGGGCGTGGGCGAA 0.652000 41 14 0 0 0.006122 0 0 OR8H3 390152 broad.mit.edu 37 11 55890328 55890328 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:55890328G>A uc001nii.1 + 0 480 c.480G>A c.(478-480)gtG>gtA p.V160V NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TTGTCAATGTGGTTTCCATGA 0.443000 65 36 0 0 0.003271 0 0 ABCA4 24 broad.mit.edu 37 1 94506778 94506778 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:94506778C>T uc001dqh.3 - 22 3613 c.3509G>A c.(3508-3510)aGg>aAg p.R1170K NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1170 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) ACTGCCTTTCCTTTGGCTCTG 0.562000 28 13 0 0 0.003163 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704034 60704034 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:60704034G>A uc001nqi.3 + 10 2923 c.2730G>A c.(2728-2730)ctG>ctA p.L910L TMEM132A_uc001nqj.3_Silent_p.L909L NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 909 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GCCGCCAGCTGGACCGGCAGT 0.716000 20 8 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179516832 179516832 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179516832G>A uc021vsy.1 - 157 32209 c.31984C>T c.(31984-31986)Ccc>Tcc p.P10662S MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11589 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P10662A(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTTCAGGGGGAGGACTTTCC 0.343000 43 32 0 0 0.005524 0 0 PPM1L 151742 broad.mit.edu 37 3 160783293 160783293 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:160783293C>T uc003fdr.3 + 2 778 c.677C>T c.(676-678)cCt>cTt p.P226L PPM1L_uc003fds.3_Missense_Mutation_p.P47L|PPM1L_uc003fdt.3_Missense_Mutation_p.P99L|PPM1L_uc010hwf.3_Non-coding_Transcript NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA. 226 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AACGCTATTCCTTTGTCTCAT 0.483000 39 29 0 0 0.007291 0 0 ANK3 288 broad.mit.edu 37 10 61831321 61831321 + Missense_Mutation SNP T A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:61831321T>A uc001jky.3 - 36 9656 c.9318A>T c.(9316-9318)gaA>gaT p.E3106D ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3106 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTATCTCCTTTTCATATTGCT 0.403000 77 50 0 0 0.003610 0 0 ZNF578 147660 broad.mit.edu 37 19 53014536 53014536 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53014536C>T uc002pzp.4 + 5 1146 c.902C>T c.(901-903)tCc>tTc p.S301F NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 76 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TACAAGTCATCCCTGACATGC 0.418000 60 20 0 0 0.007413 0 0 GAS2 2620 broad.mit.edu 37 11 22833377 22833377 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:22833377G>A uc009yie.3 + 7 1063 c.757G>A c.(757-759)Gga>Aga p.G253R GAS2_uc001mqm.3_Missense_Mutation_p.G253R|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.G253R NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 253 GAR. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 GGTCCGTGTGGGAGGAGGCTG 0.453000 62 28 0 0 0.002445 0 0 CTSF 8722 broad.mit.edu 37 11 66332102 66332102 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:66332102G>A uc001oip.3 - 10 1338 c.1248C>T c.(1246-1248)atC>atT p.I416I NM_003793 NP_003784 Q9UBX1 CATF_HUMAN Homo sapiens cathepsin F (CTSF), mRNA. 416 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GAGGGCGGGAGATCCCGTGGC 0.627000 6 5 0 0 0.000602 0 0 TFCP2 7024 broad.mit.edu 37 12 51492581 51492581 + Missense_Mutation SNP A T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:51492581A>T uc001rxw.3 - 12 2118 c.1397T>A c.(1396-1398)aTt>aAt p.I466N TFCP2_uc001rxv.2_Missense_Mutation_p.I466N|TFCP2_uc009zlx.2_Missense_Mutation_p.I415N|TFCP2_uc009zly.1_Missense_Mutation_p.I368N NM_005653 NP_005644 Q12800 TFCP2_HUMAN Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA. 466 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 GAGCACATGAATTCCTGTTGG 0.433000 33 10 0 0 0.001855 0 0 KIF4B 285643 broad.mit.edu 37 5 154394524 154394524 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:154394524C>T uc010jih.1 + 0 1265 c.1105C>T c.(1105-1107)Cat>Tat p.H369Y NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 369 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCTACAAGCCCATGGAGGTAC 0.408000 51 31 0 0 0.004289 0 0 T-Cell_Receptor_V-alpha_region 0 broad.mit.edu 37 14 22409662 22409662 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:22409662C>T uc021rpl.1 + 1 195 c.152C>T c.(151-153)tCc>tTc p.S51F TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Missense_Mutation_p.S51F SubName: Full=V-alpha 22; Flags: Precursor; Fragment; GGATACCCTTCCCTTTTCTGG 0.502000 25 13 0 0 0.001855 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:39274424G>C uc002hvz.3 - 0 183 c.144C>G c.(142-144)agC>agG p.S48R NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.S48R(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCCTGCAGCAGCTGGACACAC 0.672000 31 3 0 0 0.000248 0 0 OR2J3 442186 broad.mit.edu 37 6 29080300 29080300 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:29080300C>T uc011dll.2 + 0 633 c.633C>T c.(631-633)ctC>ctT p.L211L NM_001005216 NP_001005216 O76001 OR2J3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TATTTGTTCTCATACCTCTCA 0.448000 33 13 0 0 0.001368 0 0 BRPF3 27154 broad.mit.edu 37 6 36168457 36168457 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:36168457C>T uc003olv.4 + 1 582 c.358C>T c.(358-360)Cgt>Tgt p.R120C BRPF3_uc010jwb.3_Missense_Mutation_p.R120C|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.R120C NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 120 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GCCCAGCTTCCGTATGGTGGA 0.562000 59 19 0 0 0.001216 0 0 ZNF665 79788 broad.mit.edu 37 19 53668429 53668429 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53668429G>A uc010eqm.1 - 3 1414 c.1314C>T c.(1312-1314)gcC>gcT p.A438A NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) GCACACTAAAGGCTTTGCCAC 0.413000 26 23 0 0 0.002780 0 0 DCAF5 8816 broad.mit.edu 37 14 69521269 69521269 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:69521269G>A uc001xkp.3 - 8 2353 c.2134C>T c.(2134-2136)Cta>Tta p.L712L DCAF5_uc001xkq.3_Silent_p.L711L NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA. 712 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 GCTATGTTTAGACAGGCTTCC 0.547000 87 50 0 0 0.003610 0 0 CYP4F3 4051 broad.mit.edu 37 19 15759998 15759998 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:15759998G>A uc010xok.2 + 5 604 c.554G>A c.(553-555)gGt>gAt p.G185D CYP4F3_uc010xol.2_Missense_Mutation_p.G185D|CYP4F3_uc002nbj.3_Missense_Mutation_p.G185D|CYP4F3_uc010xom.2_Missense_Mutation_p.G36D|CYP4F3_uc002nbk.3_Missense_Mutation_p.G185D|CYP4F3_uc010xon.2_5'Flank NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 185 EGS -> KGY (in Ref. 3; AAC08589). leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.E184D(2) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GCCTCAGAGGGTAGTGCCCGT 0.557000 45 17 0 0 0.006122 0 0 OR2T12 127064 broad.mit.edu 37 1 248458257 248458257 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:248458257G>A uc010pzj.2 - 0 624 c.624C>T c.(622-624)ccC>ccT p.P208P NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TGAGGGAAAAGGGGACCAGGA 0.547000 32 12 0 0 0.002450 0 0 NLRP2 55655 broad.mit.edu 37 19 55495043 55495043 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:55495043G>A uc021vbq.1 + 5 2088 c.1977G>A c.(1975-1977)aaG>aaA p.K659K NLRP2_uc010yfp.2_Silent_p.K636K|NLRP2_uc002qij.3_Silent_p.K659K|NLRP2_uc010esp.3_Silent_p.K637K|NLRP2_uc010esn.3_Silent_p.K635K|NLRP2_uc010eso.3_Silent_p.K656K NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 659 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGGTAATAAAGGAGAATCTCC 0.473000 32 14 0 0 0.002450 0 0 MS4A1 931 broad.mit.edu 37 11 60233400 60233401 + Missense_Mutation DNP GG AA AA TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:60233400_60233401GG>AA uc009yna.3 + 4 670_671 c.343_344GG>AA c.(343-345)gga>AAa p.G115K MS4A1_uc009ymz.3_Missense_Mutation_p.G115K|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.G115K|MS4A1_uc001npq.3_Missense_Mutation_p.G115K NM_152866 NP_690605 P11836 CD20_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA. 115 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) TCAGGTCAAAGGAAAAATGATA 0.342000 29 6 0 0 0.004672 0 0 FABP2 2169 broad.mit.edu 37 4 120243201 120243201 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:120243201C>T uc003icw.3 - 0 116 c.57G>A c.(55-57)atG>atA p.M19I NM_000134 NP_000125 P12104 FABPI_HUMAN Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA. 19 fatty acid binding breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 CCATTTTTTCCATGAACTTGT 0.388000 72 45 0 0 0.003610 0 0 GAPVD1 26130 broad.mit.edu 37 9 128086088 128086088 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:128086088C>T uc004bpp.3 + 8 1904 c.1744C>T c.(1744-1746)Cgc>Tgc p.R582C GAPVD1_uc011lzs.1_Missense_Mutation_p.R582C|GAPVD1_uc004bpq.3_Missense_Mutation_p.R582C|GAPVD1_uc010mwx.3_Missense_Mutation_p.R582C|GAPVD1_uc004bpr.3_Missense_Mutation_p.R561C|GAPVD1_uc004bps.3_Missense_Mutation_p.R582C|GAPVD1_uc010mwy.1_Missense_Mutation_p.R441C NM_015635 NP_056450 Q14C86 GAPD1_HUMAN Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA. 582 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TCCTTCAAATCGCTCCAATTC 0.423000 10 7 0 0 0.001984 0 0 MYT1 4661 broad.mit.edu 37 20 62871696 62871696 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr20:62871696C>T uc002yii.3 + 22 3625 c.3261C>T c.(3259-3261)ttC>ttT p.F1087F MYT1_uc002yij.3_Silent_p.F746F NM_004535 NP_004526 Q01538 MYT1_HUMAN Homo sapiens myelin transcription factor 1 (MYT1), mRNA. 1087 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AACAGAATTTCGATGCCTATG 0.567000 29 9 0 0 0.000673 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18753299 18753299 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:18753299G>A uc003zne.4 + 15 2162 c.2010G>A c.(2008-2010)tgG>tgA p.W670* NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 670 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTCTCAGGTGGGAAATTGGCA 0.483000 5 4 0 0 0.000248 0 0 MYLK3 91807 broad.mit.edu 37 16 46766545 46766545 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:46766545C>T uc002eei.4 - 3 1153 c.1037G>A c.(1036-1038)gGg>gAg p.G346E MYLK3_uc010vge.2_Missense_Mutation_p.G5E|MYLK3_uc002eej.1_Missense_Mutation_p.G5E NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 346 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) CAGCATCTCCCCAGGAGTATC 0.607000 17 11 0 0 0.001368 0 0 CPSF3 51692 broad.mit.edu 37 2 9595848 9595848 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:9595848C>T uc002qzo.1 + 12 1600 c.1565C>T c.(1564-1566)cCc>cTc p.P522L CPSF3_uc010ewx.1_Missense_Mutation_p.P473L|CPSF3_uc002qzp.1_Missense_Mutation_p.P485L NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA. 522 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding p.P522P(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TATACTGGTCCCTTTAATTTG 0.383000 43 16 0 0 0.007413 0 0 SCN3B 55800 broad.mit.edu 37 11 123513367 123513367 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:123513367G>A uc001pza.1 - 3 639 c.232C>T c.(232-234)Cgg>Tgg p.R78W SCN3B_uc001pzb.1_Missense_Mutation_p.R78W NM_001040151 NP_060870 Q9NY72 SCN3B_HUMAN Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA. 78 Ig-like C2-type. axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2) 26 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) TGGCCATTCCGATACTCGTAA 0.582000 15 9 0 0 0.004482 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762860 130762860 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:130762860G>A uc003qcb.3 + 1 3671 c.1293G>A c.(1291-1293)atG>atA p.M431I TMEM200A_uc003qca.3_Missense_Mutation_p.M431I|TMEM200A_uc010kfh.3_Missense_Mutation_p.M431I|TMEM200A_uc010kfi.3_Missense_Mutation_p.M431I|TMEM200A_uc021zfg.1_Missense_Mutation_p.M431I NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 431 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AGGGATATATGAAACTAGAGA 0.453000 34 16 0 0 0.003163 0 0 COL11A1 1301 broad.mit.edu 37 1 103453251 103453251 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:103453251C>T uc001dum.3 - 29 2794 c.2476G>A c.(2476-2478)Gga>Aga p.G826R COL11A1_uc001duk.3_Silent_p.K4K|COL11A1_uc001dul.3_Missense_Mutation_p.G814R|COL11A1_uc001dun.3_Missense_Mutation_p.G775R|COL11A1_uc009weh.3_Missense_Mutation_p.G698R NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 814 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTTTGGGTCCTTCAGGGCCA 0.468000 57 21 0 0 0.001882 0 0 MORC1 27136 broad.mit.edu 37 3 108705741 108705741 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:108705741G>A uc003dxl.3 - 21 2330 c.2243C>T c.(2242-2244)cCt>cTt p.P748L MORC1_uc011bhn.2_Missense_Mutation_p.P727L NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 748 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GTTTAAAAGAGGAATTTCCTT 0.284000 8 8 0 0 0.003080 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142180738 142180738 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:142180738G>A uc011krz.2 - 1 170 c.121C>T c.(121-123)Cag>Tag p.Q41* TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Nonsense_Mutation_p.Q41*|BV13S6J2.1_uc022anl.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; TGGGCACACTGCAGTGTCATG 0.507000 259 22 0 0 0.005443 0 0 KIAA1715 80856 broad.mit.edu 37 2 176856982 176856982 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:176856982G>A uc010fqw.1 - 3 432 c.432C>T c.(430-432)ctC>ctT p.L144L KIAA1715_uc010zes.1_Silent_p.L80L|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc002ukc.1_Silent_p.L78L|KIAA1715_uc010zer.1_Silent_p.L78L|KIAA1715_uc010zet.1_Non-coding_Transcript Q9C0E8 LNP_HUMAN Homo sapiens KIAA1715 (KIAA1715), mRNA. 78 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) CAAAAAATGGGAGTGTCATGG 0.303000 25 5 0 0 0.001168 0 0 USH2A 7399 broad.mit.edu 37 1 216138689 216138689 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:216138689G>A uc001hku.1 - 36 7477 c.7090C>T c.(7090-7092)Ctt>Ttt p.L2364F NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 2364 Fibronectin type-III 10. 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) CCAGTGAAAAGGACTGAGTGT 0.363000 HNSCC(13;0.011) 57 31 0 0 0.003271 0 0 FBXL19 54620 broad.mit.edu 37 16 30941595 30941595 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:30941595C>T uc002eab.2 + 6 1209 c.1051C>T c.(1051-1053)Cgg>Tgg p.R351W FBXL19_uc002dzz.1_Missense_Mutation_p.R39W|FBXL19_uc002eaa.1_Missense_Mutation_p.R250W NM_001099784 NP_001093254 Q6PCT2 FXL19_HUMAN Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA. 351 DNA binding|zinc ion binding p.W350R(1) breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CGGCGAGGCCCGGAATGGGCG 0.706000 15 7 0 0 0.003080 0 0 CCDC54 84692 broad.mit.edu 37 3 107096770 107096770 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:107096770G>A uc003dwi.1 + 0 583 c.336G>A c.(334-336)atG>atA p.M112I NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA. 112 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 AAACCAGAATGAATGTTAATG 0.373000 20 10 0 0 0.006214 0 0 JAGN1 84522 broad.mit.edu 37 3 9934782 9934782 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:9934782C>T uc003btt.4 + 1 409 c.273C>T c.(271-273)tcC>tcT p.S91S CIDEC_uc003bto.3_Intron NM_032492 NP_115881 Q8N5M9 JAGN1_HUMAN Homo sapiens jagunal homolog 1 (Drosophila) (JAGN1), mRNA. 91 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1) 10 Medulloblastoma(99;0.227) GCCTTCTCTCCTTTCCCCGCA 0.517000 17 14 0 0 0.001855 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423239 107423239 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:107423239C>T uc002tdq.3 - 5 1604 c.1485G>A c.(1483-1485)ctG>ctA p.L495L ST6GAL2_uc002tdr.3_Silent_p.L495L NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 495 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.R494H(1) 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 TGCCCATGTTCAGGCGCTGCA 0.612000 46 25 0 0 0.004656 0 0 ZNF213 7760 broad.mit.edu 37 16 3188779 3188779 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:3188779C>T uc010uws.2 + 3 1004 c.557C>T c.(556-558)cCc>cTc p.P186L ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.P186L|ZNF213_uc010uwt.2_Intron NM_004220 NP_004211 O14771 ZN213_HUMAN Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA. 186 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 GAGGGTCGTCCCGGAGAGACG 0.552000 19 7 0 0 0.001984 0 0 LRP1B 53353 broad.mit.edu 37 2 141458040 141458040 + Missense_Mutation SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:141458040C>A uc002tvj.1 - 40 7550 c.6578G>T c.(6577-6579)gGa>gTa p.G2193V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2193 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) TATTGTTCTTCCTGAATACAG 0.383000 TSP Lung(27;0.18) 43 21 3.62473e-10 7.06297e-10 0.001882 1 0 CAMK4 814 broad.mit.edu 37 5 110819752 110819752 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:110819752C>T uc003kpf.3 + 10 1245 c.1010C>T c.(1009-1011)tCg>tTg p.S337L CAMK4_uc010jbv.3_Missense_Mutation_p.S140L|CAMK4_uc003kpg.3_Missense_Mutation_p.S28L NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 337 Calmodulin-binding (Potential). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) GTGGCCTCTTCGCGCCTGGGA 0.557000 40 20 0 0 0.001523 0 0 CCKAR 886 broad.mit.edu 37 4 26483532 26483532 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:26483532C>T uc003gse.1 - 4 1168 c.1015G>A c.(1015-1017)Gac>Aac p.D339N NM_000730 NP_000721 P32238 CCKAR_HUMAN Homo sapiens cholecystokinin A receptor (CCKAR), mRNA. 339 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity p.Y338Y(1) NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GAGGCGGTGTCGTAGGCCCGC 0.597000 28 12 0 0 0.001368 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274319 39274319 + Missense_Mutation SNP G C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:39274319G>C uc002hvz.3 - 0 288 c.249C>G c.(247-249)agC>agG p.S83R NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA. 83 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.S83R(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTTGCAGCAGCTGGACACAC 0.662000 21 6 0 0 0.003080 0 0 NBPF10 100132406 broad.mit.edu 37 1 144828683 144828683 + Missense_Mutation SNP C G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:144828683C>G uc009wig.1 + 21 2916 c.2722C>G c.(2722-2724)Cag>Gag p.Q908E NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 910 p.Q577E(1) 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) ATTTGAGGAACAGCACATCAG 0.438000 152 17 0 0 0.004007 0 0 FAM83B 222584 broad.mit.edu 37 6 54806491 54806491 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:54806491C>T uc003pck.3 + 4 2838 c.2722C>T c.(2722-2724)Cct>Tct p.P908S NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 908 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGTTGTTACCCCTGAAAGAAG 0.463000 43 24 0 0 0.004656 0 0 IL20RA 53832 broad.mit.edu 37 6 137325798 137325798 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:137325798C>T uc003qhj.3 - 5 1257 c.824G>A c.(823-825)cGa>cAa p.R275Q IL20RA_uc011edl.2_Missense_Mutation_p.R226Q|IL20RA_uc003qhk.3_Missense_Mutation_p.R164Q|IL20RA_uc003qhi.3_Missense_Mutation_p.R7Q NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA. 275 integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GTGGATATATCGGTAGATGGA 0.413000 71 38 0 0 0.007835 0 0 DSC1 1823 broad.mit.edu 37 18 28711671 28711671 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:28711671G>A uc002kwn.3 - 14 2635 c.2373C>T c.(2371-2373)tcC>tcT p.S791S DSC1_uc002kwm.3_Silent_p.S791S|BC042382_uc002kwo.1_Non-coding_Transcript NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 791 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CTCCTTTGTTGGAATCCAAAG 0.498000 91 49 0 0 0.003610 0 0 CD226 10666 broad.mit.edu 37 18 67531653 67531653 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:67531653G>A uc010dqo.3 - 5 1355 c.908C>T c.(907-909)cCc>cTc p.P303L CD226_uc002lkm.4_Missense_Mutation_p.P303L|CD226_uc021uli.1_Missense_Mutation_p.P148L NM_006566 NP_006557 Q15762 CD226_HUMAN Homo sapiens CD226 molecule (CD226), mRNA. 303 cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) GGTAGAGATGGGACTTCTATA 0.388000 37 14 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179497428 179497428 + Silent SNP G T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179497428G>T uc021vsy.1 - 183 35826 c.35601C>A c.(35599-35601)ccC>ccA p.P11867P MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.P5562P|TTN_uc021vta.1_Silent_p.P5495P|TTN_uc021vtb.1_Silent_p.P5370P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 12794 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAATGTTTTGGGCTCCCTGG 0.418000 155 6 0.00198382 0.0038302 0.001984 1 0 COL5A3 50509 broad.mit.edu 37 19 10071165 10071165 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:10071165C>T uc002mmq.1 - 66 5246 c.5160G>A c.(5158-5160)tgG>tgA p.W1720* NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1720 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCGCCACATCCCACAGGGGCA 0.572000 45 23 0 0 0.003330 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654188 61654188 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:61654188C>T uc002ljv.3 + 6 970 c.801C>T c.(799-801)ttC>ttT p.F267F SERPINB8_uc002lju.3_Silent_p.F267F|SERPINB8_uc010xex.2_Silent_p.F85F NM_198833 NP_942130 P50452 SPB8_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA. 267 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TTCAAGTTTTCCTTCCCAGAT 0.393000 47 34 0 0 0.002445 0 0 DNAH5 1767 broad.mit.edu 37 5 13811764 13811764 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:13811764G>A uc003jfd.2 - 43 7441 c.7399C>T c.(7399-7401)Cct>Tct p.P2467S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2467 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I2466S(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCTTCAGAGGAATCAGGCCT 0.403000 Kartagener syndrome 33 15 0 0 0.004990 0 0 ADORA3 140 broad.mit.edu 37 1 112042914 112042915 + Missense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:112042914_112042915CC>TT uc001ebh.4 - 1 1381_1382 c.614_615GG>AA c.(613-615)cgg>cAA p.R205Q ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron NM_000677 NP_000668 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA. 205 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) TGAGTTTGTTCCGAATGATGTA 0.426000 32 12 0 0 0.004672 0 0 COL3A1 1281 broad.mit.edu 37 2 189859281 189859281 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:189859281G>A uc002uqj.1 + 18 1425 c.1308G>A c.(1306-1308)aaG>aaA p.K436K MIR3606_uc021vtx.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 436 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGCCTGGTAAGAATGGTGCCA 0.393000 36 19 0 0 0.003330 0 0 SSTR1 6751 broad.mit.edu 37 14 38678944 38678944 + Missense_Mutation SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:38678944C>A uc021rsi.1 + 0 350 c.350C>A c.(349-351)tCc>tAc p.S117Y SSTR1_uc001wul.1_Missense_Mutation_p.S117Y NM_001049 NP_001040 P30872 SSR1_HUMAN Homo sapiens somatostatin receptor 1 (SSTR1), mRNA. 117 G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CTAGTCACCTCCACGTTGTTG 0.577000 95 37 1.62957e-23 3.20063e-23 0.001951 1 0 TCRB 0 broad.mit.edu 37 7 142099569 142099569 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:142099569C>T uc003vyz.1 - 1 233 c.233G>A c.(232-234)gGg>gAg p.G78E TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.G78E SubName: Full=Uncharacterized protein; ACTGGGCAGCCCCGATTTGTC 0.532000 35 20 0 0 0.001216 0 0 PKD1L2 114780 broad.mit.edu 37 16 81236314 81236314 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:81236314A>G uc002fgh.1 - 5 934 c.934T>C c.(934-936)Ttc>Ctc p.F312L PKD1L2_uc002fgj.3_Missense_Mutation_p.F312L NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 312 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGAGATGTGAACTGGTGGGTC 0.537000 16 8 0 0 0.003080 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555154 44555154 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr18:44555154C>T uc010xdb.2 - 0 1296 c.1060G>A c.(1060-1062)Gac>Aac p.D354N KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 354 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CCTTCCACGTCGCCGAGGGCG 0.662000 396 19 0 0 0.001512 0 0 RNASE11 122651 broad.mit.edu 37 14 21052207 21052207 + Missense_Mutation SNP G A A rs112711544 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:21052207G>A uc010ahw.3 - 2 763 c.427C>T c.(427-429)Cct>Tct p.P143S RNASE11_uc010ahv.3_Missense_Mutation_p.P143S|RNASE11_uc010ahx.3_Missense_Mutation_p.P143S|RNASE11_uc001vxs.3_Missense_Mutation_p.P143S|RNASE11_uc021rnu.1_Missense_Mutation_p.P143S NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA. 143 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.P143H(1) endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) CTTATGCCAGGATTCTGTACA 0.512000 14 12 0 0 0.000978 0 0 MCOLN2 255231 broad.mit.edu 37 1 85405263 85405263 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:85405263G>A uc001dkm.3 - 8 1324 c.1083C>T c.(1081-1083)tcC>tcT p.S361S MCOLN2_uc001dkn.3_Intron NM_153259 NP_694991 Q8IZK6 MCLN2_HUMAN Homo sapiens mucolipin 2 (MCOLN2), mRNA. 361 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) TTTTTAATATGGAGCCAATGA 0.463000 27 15 0 0 0.004007 0 0 PHKA1 5255 broad.mit.edu 37 X 71822083 71822083 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chrX:71822083G>A uc004eax.4 - 26 3259 c.2958C>T c.(2956-2958)atC>atT p.I986I PHKA1_uc004eay.4_Silent_p.I986I|PHKA1_uc011mqi.2_Silent_p.I927I NM_002637 NP_002628 P46020 KPB1_HUMAN Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. 986 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CAATCTCGTGGATAGAAATAG 0.413000 11 13 0 0 0.004990 0 0 NPY2R 4887 broad.mit.edu 37 4 156135297 156135297 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:156135297C>T uc003ioq.3 + 1 695 c.206C>T c.(205-207)tCc>tTc p.S69F NPY2R_uc003ior.3_Missense_Mutation_p.S69F|NPY2R_uc021xtm.1_Missense_Mutation_p.S69F NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 69 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) ATTGGCAACTCCTTGGTGATC 0.453000 39 15 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9014698 9014698 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:9014698C>T uc002mkp.3 - 30 38481 c.38277G>A c.(38275-38277)gaG>gaA p.E12759E MUC16_uc021uog.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12761 SEA 5. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCCATCCTTCTCGGACCTGA 0.532000 25 11 0 0 0.004007 0 0 CELA3B 23436 broad.mit.edu 37 1 22336293 22336293 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:22336293C>T uc001bfl.3 + 6 757 c.738C>T c.(736-738)ttC>ttT p.F246F NM_005747 NP_005738 P08861 CEL3B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA. 246 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 GCTGCAACTTCATCTGGAAGC 0.612000 32 15 0 0 0.002450 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98506933 98506934 + Missense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:98506933_98506934CC>TT uc003dtc.3 + 7 952_953 c.485_486CC>TT c.(484-486)acc>aTT p.T162I ST3GAL6_uc003dsy.3_Missense_Mutation_p.T76I|ST3GAL6_uc003dsz.3_Missense_Mutation_p.T162I|ST3GAL6_uc003dta.3_Missense_Mutation_p.T44I|ST3GAL6_uc010hpd.3_Missense_Mutation_p.T215I NM_006100 NP_006091 Q9Y274 SIA10_HUMAN Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA. 162 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 AGAAGGACAACCTTCCGACTTT 0.371000 20 6 0 0 0.004672 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938752 2938752 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:2938752C>T uc001ajz.3 + 0 707 c.502C>T c.(502-504)Ccc>Tcc p.P168S NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 168 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CTGCACTGTCCCCATCTTTGA 0.657000 30 12 0 0 0.001855 0 0 FAM71A 149647 broad.mit.edu 37 1 212799772 212799772 + RNA SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:212799772G>A uc010pth.1 - 0 c.342C>T FAM71A_uc001hjk.3_Missense_Mutation_p.G518D Q8IYT1 FA71A_HUMAN Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) ACCAGTTCCGGTTCCAGCAAG 0.542000 37 20 0 0 0.001216 0 0 OR2F1 26211 broad.mit.edu 37 7 143657942 143657942 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:143657942G>A uc003wds.1 + 0 923 c.879G>A c.(877-879)agG>agA p.R293R NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) ACAGCCTAAGGAATAAAGAGG 0.443000 29 15 0 0 0.003163 0 0 KCNA6 3742 broad.mit.edu 37 12 4920426 4920426 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:4920426C>T uc001qng.3 + 0 2085 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S KCNA6_uc021qtr.1_Missense_Mutation_p.P407S NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 407 voltage-gated potassium channel complex voltage-gated potassium channel activity p.F406F(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TTCGCTTTTTCCCAGCATCCC 0.572000 HNSCC(72;0.22) 61 20 0 0 0.002780 0 0 TMEM40 55287 broad.mit.edu 37 3 12785412 12785412 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:12785412C>T uc011auv.1 - 3 503 c.336G>A c.(334-336)ggG>ggA p.G112G TMEM40_uc003bxg.1_Silent_p.G96G|TMEM40_uc003bxh.1_Intron NM_018306 NP_060776 Q8WWA1 TMM40_HUMAN Homo sapiens transmembrane protein 40 (TMEM40), mRNA. 96 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 GTGAGCCGTTCCCGTGGGGGT 0.542000 26 9 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179577529 179577529 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179577529C>T uc021vsy.1 - 90 23716 c.23491G>A c.(23491-23493)Gaa>Aaa p.E7831K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4492K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8758 Ig-like 60. 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) AACTCCAGTTCAGCAACTGAA 0.428000 26 15 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179576810 179576810 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:179576810C>T uc021vsy.1 - 92 24240 c.24015G>A c.(24013-24015)acG>acA p.T8005T TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.T4666T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8932 Ig-like 62. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTGTAAGTCGTAGTGGGTC 0.403000 36 16 0 0 0.003163 0 0 SCPEP1 59342 broad.mit.edu 37 17 55062798 55062798 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:55062798C>T uc002iuv.4 + 2 338 c.285C>T c.(283-285)gaC>gaT p.D95D SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Silent_p.D45D NM_021626 NP_067639 Q9HB40 RISC_HUMAN Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA. 95 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) GGCCCCTTGACAGTGATCTCA 0.512000 19 36 0 0 0.002522 0 0 LILRB1 10859 broad.mit.edu 37 19 55145105 55145105 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:55145105C>T uc002qgj.3 + 8 1618 c.1278C>T c.(1276-1278)ccC>ccT p.P426P LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.P426P|LILRB1_uc002qgk.3_Silent_p.P426P|LILRB1_uc002qgm.3_Silent_p.P426P|LILRB1_uc010erq.3_Intron|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 426 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CTGGGGGCCCCAGCTCCCCGA 0.607000 HNSCC(37;0.09) 14 6 0 0 0.003080 0 0 ZNF765 91661 broad.mit.edu 37 19 53905318 53905318 + Splice_Site SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53905318G>A uc010ydx.2 + 5 343 c.16_splice c.e5-1 p.G6_splice ZNF765_uc002qbm.3_Splice_Site_p.G6_splice|ZNF765_uc002qbn.3_Splice_Site NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN Homo sapiens zinc finger protein 765 (ZNF765), mRNA. 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) TTCATTTCAGGGTCTATTGAC 0.433000 67 21 0 0 0.003954 0 0 TPTE 7179 broad.mit.edu 37 21 10916422 10916422 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr21:10916422G>A uc002yip.1 - 19 1592 c.1224C>T c.(1222-1224)ctC>ctT p.L408L TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Silent_p.L390L|TPTE_uc002yir.1_Silent_p.L370L|TPTE_uc010gkv.1_Silent_p.L270L NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 408 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R408H(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTCTTGGAGGGAGATTCCAGT 0.363000 146 10 0 0 0.004007 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133661584 133661584 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:133661584C>T uc003eqa.4 - 10 1764 c.1490G>A c.(1489-1491)gGg>gAg p.G497E SLCO2A1_uc011blv.2_Missense_Mutation_p.G316E NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 497 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 AGCGGATCCCCCGGTCACACA 0.527000 59 16 0 0 0.006122 0 0 PARN 5073 broad.mit.edu 37 16 14676080 14676080 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:14676080A>G uc010uzd.2 - 16 1296 c.1150T>C c.(1150-1152)Tac>Cac p.Y384H PARN_uc010uzc.2_Missense_Mutation_p.Y323H|PARN_uc010uze.2_Missense_Mutation_p.Y338H|PARN_uc010uzf.2_Missense_Mutation_p.Y209H NM_002582 NP_001127949 O95453 PARN_HUMAN Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA. 384 RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleolus mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 CCTGTGATGTAGGCATCGTAG 0.448000 116 57 0 0 0.003610 0 0 TAS1R1 80835 broad.mit.edu 37 1 6634815 6634815 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:6634815G>A uc001ant.3 + 2 719 c.623G>A c.(622-624)tGg>tAg p.W208* TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Nonsense_Mutation_p.W130* NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA. 208 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) AAGTTCGGGTGGACCTGGATC 0.587000 23 14 0 0 0.002450 0 0 TMEM159 57146 broad.mit.edu 37 16 21181806 21181806 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:21181806C>T uc010vbf.2 + 3 471 c.217C>T c.(217-219)Ccg>Tcg p.P73S TMEM159_uc002dih.4_Missense_Mutation_p.P49S|TMEM159_uc002dif.4_Missense_Mutation_p.P49S|TMEM159_uc002dig.4_Non-coding_Transcript NM_020422 NP_065155 Q96B96 TM159_HUMAN Homo sapiens transmembrane protein 159 (TMEM159), mRNA. 49 integral to membrane large_intestine(3)|lung(2)|ovary(1) 6 GBM - Glioblastoma multiforme(48;0.0972) GGACAGCCATCCGTTTCTGGC 0.537000 94 46 0 0 0.003610 0 0 GRM6 2916 broad.mit.edu 37 5 178417600 178417600 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:178417600G>A uc003mjr.3 - 3 1184 c.1005C>T c.(1003-1005)tcC>tcT p.S335S GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 335 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CACCGTCGATGGAGGCCCTTT 0.622000 19 7 0 0 0.006214 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146570 70146570 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:70146570G>A uc003hej.3 + 0 354 c.352G>A c.(352-354)Gaa>Aaa p.E118K UGT2B28_uc010ihr.3_Missense_Mutation_p.E118K NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 118 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AATCCTGTGGGAATTTCATGA 0.299000 67 35 0 0 0.003271 0 0 MTMR11 10903 broad.mit.edu 37 1 149902774 149902774 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:149902774G>A uc001etl.4 - 13 1625 c.1374C>T c.(1372-1374)ttC>ttT p.F458F SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.F386F|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 458 Myotubularin phosphatase. phosphatase activity p.F386F(1)|p.F458F(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GAGCAAGAAGGAAAAACTCAG 0.493000 34 16 0 0 0.004007 0 0 FBXO11 80204 broad.mit.edu 37 2 48050434 48050434 + Silent SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:48050434A>G uc002rwe.3 - 11 1537 c.1464T>C c.(1462-1464)gcT>gcC p.A488A FBXO11_uc010fbl.3_Silent_p.A404A|FBXO11_uc002rwg.2_Silent_p.A488A|FBXO11_uc010fbk.3_5'UTR|FBXO11_uc021vhe.1_Silent_p.A288A NM_001190274 NP_001177203 Q86XK2 FBX11_HUMAN Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA. 488 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTGTAGGGTTAGCATAGGCTT 0.363000 """Mis, F, D""" DLBCL 23 14 0 0 0.001855 0 0 FAT3 120114 broad.mit.edu 37 11 92525957 92525957 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:92525957C>T uc001pdj.4 + 7 4653 c.4636C>T c.(4636-4638)Cga>Tga p.R1546* NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1546 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTTTCCTTATCGAAGAAACTT 0.418000 TCGA Ovarian(4;0.039) 315 123 0 0 0.003610 0 0 OR2A5 393046 broad.mit.edu 37 7 143747527 143747527 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr7:143747527C>T uc011ktw.2 + 0 33 c.33C>T c.(31-33)ttC>ttT p.F11F NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCACAGAATTCATTCTCCTGG 0.502000 68 28 0 0 0.002096 0 0 ENC1 8507 broad.mit.edu 37 5 73931133 73931133 + Missense_Mutation SNP A G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:73931133A>G uc003kdc.4 - 1 2309 c.1178T>C c.(1177-1179)gTt>gCt p.V393A ENC1_uc011css.2_Missense_Mutation_p.V320A|ENC1_uc021yao.1_Missense_Mutation_p.V393A NM_003633 NP_003624 O14682 ENC1_HUMAN Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA. 393 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) GTGCCCCCCAACCACATACAG 0.577000 44 20 0 0 0.001523 0 0 PRR15L 79170 broad.mit.edu 37 17 46030478 46030479 + Missense_Mutation DNP CC TT TT TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr17:46030478_46030479CC>TT uc002imp.3 - 1 239_240 c.122_123GG>AA c.(121-123)agg>aAA p.R41K PRR15L_uc021tzd.1_Missense_Mutation_p.R41K NM_024320 NP_077296 Q9BU68 PR15L_HUMAN Homo sapiens proline rich 15-like (PRR15L), mRNA. 41 NS(1)|cervix(1)|ovary(1)|pancreas(1) 4 CAGCGTCAGGCCTCGGGGGTTC 0.545000 52 90 0 0 0.004672 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73064052 73064052 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:73064052C>T uc001otu.3 + 2 3469 c.3448C>T c.(3448-3450)Cag>Tag p.Q1150* NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 1150 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CCTGCTCGTCCAGTCGGTGAG 0.662000 23 14 0 0 0.002450 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596214 24596214 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:24596214G>A uc011djo.2 - 2 1188 c.688C>T c.(688-690)Cct>Tct p.P230S KIAA0319_uc011djp.2_Missense_Mutation_p.P185S|KIAA0319_uc003neh.1_Missense_Mutation_p.P230S|KIAA0319_uc011djq.1_Missense_Mutation_p.P221S|KIAA0319_uc011djr.1_Missense_Mutation_p.P230S NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 230 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding p.P230H(1) breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTTCTCTCAGGGAGTTTTGGG 0.552000 12 9 0 0 0.004482 0 0 PSG2 5670 broad.mit.edu 37 19 43586677 43586677 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:43586677C>T uc002ovr.3 - 0 217 c.45G>A c.(43-45)tgG>tgA p.W15* PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 15 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) GGAGCCCCTTCCATTTGATGT 0.577000 89 43 0 0 0.003610 0 0 SULT1A2 6799 broad.mit.edu 37 16 28603753 28603753 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:28603753C>T uc002dqg.2 - 6 957 c.606G>A c.(604-606)agG>agA p.R202R NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Silent_p.R202R NM_177528 NP_803564 P50226 ST1A2_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA. 202 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 TTTGAATCTCCCTTTTGGGGT 0.522000 45 7 0 0 0.001984 0 0 PCDH18 54510 broad.mit.edu 37 4 138442417 138442417 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:138442417G>A uc003ihe.4 - 3 3561 c.3174C>T c.(3172-3174)gcC>gcT p.A1058A PCDH18_uc003ihf.4_Silent_p.A1050A|PCDH18_uc011cgz.2_Silent_p.A269A|PCDH18_uc003ihg.4_Silent_p.A837A|PCDH18_uc011cha.2_Silent_p.A238A NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 1058 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AATGCGTACTGGCTGCCCATG 0.577000 20 16 0 0 0.004990 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110394709 110394709 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:110394709C>T uc003yne.3 + 3 430 c.326C>T c.(325-327)tCc>tTc p.S109F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 109 IPT/TIG 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCGGAAGATTCCTACACTGTT 0.398000 HNSCC(38;0.096) 74 29 0 0 0.001512 0 0 TMEM132D 121256 broad.mit.edu 37 12 130015650 130015650 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:130015650G>A uc009zyl.1 - 2 1397 c.1069C>T c.(1069-1071)Cca>Tca p.P357S NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 357 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATGACAGCTGGTGCATACTTT 0.512000 44 27 0 0 0.003954 0 0 DHX37 57647 broad.mit.edu 37 12 125465048 125465048 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:125465048G>A uc001ugy.3 - 3 825 c.726C>T c.(724-726)tcC>tcT p.S242S NM_032656 NP_116045 Q8IY37 DHX37_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA. 242 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GCATTTCCGGGGAGCGGTTCA 0.642000 23 18 0 0 0.007413 0 0 ZNF28 7576 broad.mit.edu 37 19 53303281 53303281 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:53303281G>A uc002qad.3 - 3 1974 c.1817C>T c.(1816-1818)cCt>cTt p.P606L ZNF28_uc002qac.3_Missense_Mutation_p.P552L|ZNF28_uc010eqe.3_Missense_Mutation_p.P552L|ZNF28_uc021uza.1_Missense_Mutation_p.P553L NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ACACTTGTAAGGTTTCTCTCC 0.443000 112 39 0 0 0.004289 0 0 PTGS2 5743 broad.mit.edu 37 1 186644398 186644398 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:186644398G>A uc001gsb.3 - 8 1525 c.1388C>T c.(1387-1389)tCa>tTa p.S463L PTGS2_uc009wyo.3_Missense_Mutation_p.S310L NM_000963 NP_000954 P35354 PGH2_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA. 463 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154) TTCTTCAAATGATTCATAGGG 0.373000 49 23 0 0 0.002780 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41721867 41721867 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr22:41721867C>T uc003azw.3 + 3 446 c.230C>T c.(229-231)cCc>cTc p.P77L ZC3H7B_uc003azv.1_Missense_Mutation_p.P77L NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA. 77 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GTGGCCCTGCCCCGGGAGCTG 0.592000 10 4 0 0 0.000248 0 0 YIPF7 285525 broad.mit.edu 37 4 44638057 44638057 + Silent SNP T A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr4:44638057T>A uc021xnx.1 - 2 251 c.234A>T c.(232-234)tcA>tcT p.S78S YIPF7_uc010ify.2_Silent_p.S78S NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA. 78 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 TGAGCATCTCTGATGGAACAA 0.393000 34 12 0 0 0.002450 0 0 ERLIN1 10613 broad.mit.edu 37 10 101937916 101937916 + Missense_Mutation SNP A C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:101937916A>C uc001kqn.4 - 3 629 c.278T>G c.(277-279)gTg>gGg p.V93G ERLIN1_uc001kqo.4_Missense_Mutation_p.V93G|ERLIN1_uc010qpm.2_Missense_Mutation_p.V9G NM_006459 NP_006450 O75477 ERLN1_HUMAN Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA. 91 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding Colorectal(252;0.234) Epithelial(162;3.85e-10)|all cancers(201;3.25e-08) CATATTAACCACTTCTATTCG 0.358000 8 3 0 0 0.004672 0 0 C1orf173 127254 broad.mit.edu 37 1 75038901 75038901 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:75038901G>A uc001dgg.3 - 13 2712 c.2493C>T c.(2491-2493)atC>atT p.I831I NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 831 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGCCTGGAGGGATCTCCCTTT 0.572000 42 19 0 0 0.007413 0 0 BRCA2 675 broad.mit.edu 37 13 32914811 32914811 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:32914811C>T uc001uub.1 + 10 6546 c.6319C>T c.(6319-6321)Cct>Tct p.P2107S NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 2107 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAAATACTTCCTCGTGTTGA 0.333000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 40 16 0 0 0.003163 0 0 QARS 5859 broad.mit.edu 37 3 49139286 49139286 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:49139286C>T uc003cvx.3 - 7 683 c.678G>A c.(676-678)ggG>ggA p.G226G QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Silent_p.G81G|QARS_uc003cvy.3_Silent_p.G81G|QARS_uc011bce.2_Silent_p.G215G|QARS_uc011bcf.1_Silent_p.G226G NM_005051 NP_005042 P47897 SYQ_HUMAN Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA. 226 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) TAAGGGCCTCCCCCCGGAGCT 0.552000 8 6 0 0 0.001168 0 0 SCN11A 11280 broad.mit.edu 37 3 38888327 38888327 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:38888327C>T uc021wvy.1 - 25 5433 c.5234G>A c.(5233-5235)cGa>cAa p.R1745Q NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1745 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CATGTACTTTCGAAAGGCCTT 0.458000 73 32 0 0 0.003271 0 0 BAI1 575 broad.mit.edu 37 8 143570778 143570778 + Missense_Mutation SNP C G G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:143570778C>G uc003ywm.3 + 14 2793 c.2610C>G c.(2608-2610)atC>atG p.I870M NM_001702 NP_001693 O14514 BAI1_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA. 870 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 p.I870I(2) 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) CCTTGGAGATCGAGTTTGCCC 0.567000 40 16 0 0 0.003163 0 0 CCKBR 887 broad.mit.edu 37 11 6292024 6292024 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:6292024G>A uc001mcp.3 + 3 1057 c.802G>A c.(802-804)Ggg>Agg p.G268R CCKBR_uc001mcq.3_Missense_Mutation_p.G196R|CCKBR_uc001mcr.3_Missense_Mutation_p.G268R|CCKBR_uc001mcs.3_Missense_Mutation_p.G268R|CCKBR_uc001mct.1_Non-coding_Transcript NM_176875 NP_795344 P32239 GASR_HUMAN Homo sapiens cholecystokinin B receptor (CCKBR), mRNA. 268 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 p.G267V(1) 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) AAACCAAGGCGGGCTGCCAGG 0.632000 24 14 0 0 0.006122 0 0 TGM1 7051 broad.mit.edu 37 14 24729713 24729713 + Nonsense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr14:24729713G>A uc001wod.3 - 3 824 c.700C>T c.(700-702)Cag>Tag p.Q234* TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank NM_000359 NP_000350 P22735 TGM1_HUMAN Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA. 234 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) AAGGGCAACTGGAACTCCCCA 0.577000 42 11 0 0 0.001368 0 0 NEB 4703 broad.mit.edu 37 2 152497000 152497000 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:152497000C>T uc021vrb.1 - 58 8583 c.8554G>A c.(8554-8556)Gtg>Atg p.V2852M NEB_uc002txu.3_Missense_Mutation_p.V2852M|NEB_uc021vrc.1_Missense_Mutation_p.V2852M|NEB_uc010fnx.3_Missense_Mutation_p.V2852M|NEB_uc021vrd.1_Missense_Mutation_p.V2852M NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2852 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle p.V2852V(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCCAGCACCACCCCCAGCATG 0.562000 163 90 0 0 0.003610 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55349240 55349240 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:55349240C>T uc002qhm.1 + 2 326 c.280C>T c.(280-282)Ctt>Ttt p.L94F KIR3DL2_uc010yfj.2_Missense_Mutation_p.L87F|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.L94F|KIR3DL2_uc002qhn.1_Missense_Mutation_p.L41F NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 189 Ig-like C2-type 1. cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GATGCCTGTCCTTGCAGGAAC 0.517000 152 83 0 0 0.003610 0 0 CHRM3 1131 broad.mit.edu 37 1 240071792 240071792 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:240071792G>A uc021plc.1 + 0 1041 c.1041G>A c.(1039-1041)gaG>gaA p.E347E CHRM3_uc001hyp.3_Silent_p.E347E NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 347 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity p.L346L(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCTCCCTGGAGAACTCCGCCT 0.572000 11 6 0 0 0.001168 0 0 ADAM7 8756 broad.mit.edu 37 8 24304772 24304772 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:24304772C>T uc003xeb.3 + 2 343 c.230C>T c.(229-231)tCc>tTc p.S77F ADAM7_uc003xea.1_Missense_Mutation_p.S77F NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 77 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CTTCTAAGATCCAGGTAAGTT 0.318000 23 16 0 0 0.004007 0 0 PHACTR4 65979 broad.mit.edu 37 1 28800500 28800500 + Nonsense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:28800500C>T uc001bpy.3 + 5 1523 c.1288C>T c.(1288-1290)Cga>Tga p.R430* PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Nonsense_Mutation_p.R420*|PHACTR4_uc001bpx.3_Nonsense_Mutation_p.R404* NM_023923 NP_076412 Q8IZ21 PHAR4_HUMAN Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA. 420 Pro-rich. actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) ACTGCATATTCGAATCCAGCA 0.512000 51 28 0 0 0.006320 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62611168 62611168 + Missense_Mutation SNP C A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr6:62611168C>A uc003peg.2 - 4 839 c.592G>T c.(592-594)Gct>Tct p.A198S NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA. 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GCTGTGGGAGCTATTCTGATC 0.408000 41 17 1.99824e-07 3.87322e-07 0.004990 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21054378 21054378 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:21054378G>A uc010sil.2 + 12 1907 c.1842G>A c.(1840-1842)agG>agA p.R614R SLCO1B3_uc001rek.3_Silent_p.R614R|SLCO1B3_uc001rel.3_Silent_p.R614R|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 614 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) GGGCTTGTAGGATATATAATT 0.348000 57 32 0 0 0.002836 0 0 BDH1 622 broad.mit.edu 37 3 197238877 197238877 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:197238877G>A uc003fxr.3 - 7 1323 c.921C>T c.(919-921)acC>acT p.T307T BDH1_uc003fxs.3_Silent_p.T307T|BDH1_uc003fxu.3_Silent_p.T307T NM_203314 NP_976060 Q02338 BDH_HUMAN Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 307 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity p.T307T(2) endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) GGGTGGTGGCGGTCAGGGCGT 0.562000 78 51 0 0 0.003610 0 0 PXDNL 137902 broad.mit.edu 37 8 52320808 52320808 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:52320808G>A uc003xqu.4 - 16 3477 c.3376C>T c.(3376-3378)Ctc>Ttc p.L1126F PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 1126 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCGGAGAAGAGCCTCTGGGTC 0.577000 71 37 0 0 0.004289 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067563 11067563 + Splice_Site SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:11067563G>A uc010hdq.3 + 9 1364 c.953_splice c.e9+1 p.R318_splice NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 318 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ATGTCTACAGGTTTGAGAGGA 0.577000 49 19 0 0 0.001216 0 0 TNIP1 10318 broad.mit.edu 37 5 150436501 150436501 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr5:150436501G>A uc003lti.3 - 5 694 c.453C>T c.(451-453)ccC>ccT p.P151P TNIP1_uc010jhq.2_Silent_p.P98P|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Silent_p.P98P|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Silent_p.P151P|TNIP1_uc010jhm.3_Silent_p.P151P|TNIP1_uc010jhr.2_Silent_p.P151P|TNIP1_uc011dco.2_Silent_p.P151P|TNIP1_uc003ltg.3_Silent_p.P98P|TNIP1_uc003ltk.3_Silent_p.P151P|TNIP1_uc003ltj.3_Silent_p.P151P|TNIP1_uc021ygb.1_Silent_p.P151P NM_006058 NP_006049 Q15025 TNIP1_HUMAN Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA. 151 Interacts with Nef. P -> A (in dbSNP:rs2233290). defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding p.P151A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGTCCTCACGGGGCAGGGGGC 0.667000 16 10 0 0 0.006214 0 0 CNTN4 152330 broad.mit.edu 37 3 3085301 3085301 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:3085301C>T uc003bpc.3 + 22 3063 c.2724C>T c.(2722-2724)atC>atT p.I908I CNTN4_uc021wsg.1_Silent_p.I908I|CNTN4_uc003bpe.3_Silent_p.I580I|CNTN4_uc003bpf.3_Silent_p.I579I|CNTN4_uc003bpg.3_Silent_p.I164I NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 908 Fibronectin type-III 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CCGGAAACATCATATGGAATT 0.368000 28 11 0 0 0.001368 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022166 51022166 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr19:51022166G>A uc002pss.3 - 2 941 c.804C>T c.(802-804)atC>atT p.I268I NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 268 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CGTTGCGCTCGATGGTGGCTA 0.652000 37 8 0 0 0.004482 0 0 TACC2 10579 broad.mit.edu 37 10 123987414 123987414 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:123987414C>T uc001lfv.3 + 13 8147 c.7787C>T c.(7786-7788)cCa>cTa p.P2596L TACC2_uc001lfw.3_Missense_Mutation_p.P742L|TACC2_uc009xzx.3_Missense_Mutation_p.P2551L|TACC2_uc010qtv.2_Missense_Mutation_p.P2600L|TACC2_uc001lfx.3_Missense_Mutation_p.P300L|TACC2_uc001lfy.3_Missense_Mutation_p.P296L|TACC2_uc001lfz.3_Missense_Mutation_p.P674L|TACC2_uc001lga.3_Missense_Mutation_p.P674L|TACC2_uc009xzy.3_Missense_Mutation_p.P686L|TACC2_uc001lgb.3_Missense_Mutation_p.P631L NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2596 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) CATCCTGTCCCACGAGGACTG 0.542000 67 24 0 0 0.002780 0 0 PRUNE2 158471 broad.mit.edu 37 9 79259754 79259754 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:79259754C>T uc010mpk.3 - 11 8753 c.8629G>A c.(8629-8631)Gag>Aag p.E2877K PRUNE2_uc011lsk.2_Missense_Mutation_p.E126K|PRUNE2_uc011lsl.2_Missense_Mutation_p.E141K|PRUNE2_uc011lsm.2_Missense_Mutation_p.E142K|PRUNE2_uc004akj.4_Missense_Mutation_p.E331K|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.E331K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 2877 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CGGTTGTCCTCCCGTTCCTCT 0.512000 12 15 0 0 0.002450 0 0 DAB2IP 153090 broad.mit.edu 37 9 124530806 124530806 + Missense_Mutation SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr9:124530806C>T uc004bln.3 + 9 1778 c.1709C>T c.(1708-1710)cCc>cTc p.P570L DAB2IP_uc004blo.3_Missense_Mutation_p.P474L|DAB2IP_uc004blp.3_Missense_Mutation_p.P25L NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA. 598 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 ATCTCCAACCCCGAGACCCTC 0.587000 20 26 0 0 0.003954 0 0 TIE1 7075 broad.mit.edu 37 1 43779520 43779520 + Missense_Mutation SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr1:43779520G>A uc001ciu.3 + 13 2467 c.2290G>A c.(2290-2292)Gcg>Acg p.A764T TIE1_uc010oke.2_Missense_Mutation_p.A719T|TIE1_uc009vwq.3_Missense_Mutation_p.A720T|TIE1_uc010okf.1_Missense_Mutation_p.A409T|TIE1_uc010okg.2_Missense_Mutation_p.A409T NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 764 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCTGATCCTGGCGGTGGTGGG 0.637000 32 16 0 0 0.004007 0 0 MDK 4192 broad.mit.edu 37 11 46405032 46405032 + Silent SNP G A A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr11:46405032G>A uc001nco.3 + 4 642 c.420G>A c.(418-420)aaG>aaA p.K140K MDK_uc009ykz.1_3'UTR|MDK_uc001ncp.3_Silent_p.K140K|MDK_uc009yla.3_Silent_p.K84K|MDK_uc009ylb.3_Missense_Mutation_p.R59K|MDK_uc001ncq.3_Silent_p.K140K NM_001012334 NP_002382 P21741 MK_HUMAN Homo sapiens midkine (neurite growth-promoting factor 2) (MDK), transcript variant 1, mRNA. 140 adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction extracellular region growth factor activity|heparin binding lung(1) 1 GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14) AGAAAGGGAAGGGAAAGGACT 0.572000 OREG0020943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 11 0 0 0.001368 0 0 CLEC3A 10143 broad.mit.edu 37 16 78062059 78062059 + Silent SNP C T T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:78062059C>T uc002ffh.4 + 1 252 c.171C>T c.(169-171)gcC>gcT p.A57A CLEC3A_uc021tlr.1_5'Flank NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 57 skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 AAGTCAATGCCTTGAAGGAAA 0.478000 43 19 0 0 0.007413 0 0 LRIG3 121227 broad.mit.edu 37 12 59284549 59284549 + Missense_Mutation SNP G C C TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:59284549G>C uc001sqr.3 - 3 659 c.413C>G c.(412-414)cCt>cGt p.P138R LRIG3_uc009zqh.3_Missense_Mutation_p.P78R|LRIG3_uc010ssh.2_Non-coding_Transcript NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA. 138 integral to membrane p.L137L(1) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CAGATGTTCAGGGAGTATTTC 0.373000 T ROS1 NSCLC 30 13 0 0 0.003163 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG - - rs112040677 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr2:131129929_131129934delGACGGG uc002trc.3 + 12 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cagacgggg>cag p.TG378del PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del NM_014369 NP_055184 Q99952 PTN18_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA. 378 Missing (in Ref. 1; CAA56105). cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(2) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 --- 4 --- --- 2 --- IFRD2 7866 broad.mit.edu 37 3 50326964 50326964 + Frame_Shift_Del DEL C - - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr3:50326964delC uc003czb.3 - 9 1191 c.1191delG c.(1189-1191)ctgfs p.L397fs IFRD2_uc011bdp.2_Frame_Shift_Del_p.L295fs NM_006764 NP_006755 Q12894 IFRD2_HUMAN Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA. 295 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCAGGCCGTGCAGGCTGGCAG 0.597 --- 4 --- --- 2 --- TP53INP1 94241 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT - - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr8:95952409_95952411delTCT uc003yhg.3 - 2 534_536 c.150_152delAGA c.(148-153)gaagag>gag p.50_51EE>E TP53INP1_uc003yhh.3_In_Frame_Del_p.50_51EE>E NM_033285 NP_150601 Q96A56 T53I1_HUMAN Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA. 50 Glu-rich. apoptosis PML body p.E50E(2) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 --- 383 --- --- 9 --- FRA10AC1 118924 broad.mit.edu 37 10 95459812 95459813 + Frame_Shift_Del DEL CA - - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr10:95459812_95459813delCA uc001kiz.2 - 1 249_250 c.51_52delTG c.(49-54)tgtggafs p.C17fs FRA10AC1_uc001kiv.2_Non-coding_Transcript|FRA10AC1_uc001kjb.1_Frame_Shift_Del_p.C17fs|FRA10AC1_uc009xuh.1_Frame_Shift_Del_p.C18fs NM_145246 NP_660289 Q70Z53 F10C1_HUMAN Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA. 17 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 CTGGATTCTCCACAGCGTTCAT 0.322 --- 26 --- --- 18 --- IRAK4 51135 broad.mit.edu 37 12 44166759 44166761 + In_Frame_Del DEL AAC - - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr12:44166759_44166761delAAC uc001rnu.3 + 5 665_667 c.535_537delAAC c.(535-537)aacdel p.N179del IRAK4_uc001rnt.3_In_Frame_Del_p.N179del|IRAK4_uc001rnx.3_In_Frame_Del_p.N55del|IRAK4_uc001rny.3_In_Frame_Del_p.N55del|IRAK4_uc010sky.1_In_Frame_Del_p.N55del|IRAK4_uc001rnv.3_In_Frame_Del_p.N55del|IRAK4_uc001rnw.3_In_Frame_Del_p.N55del NM_001114182 NP_001138730 Q9NWZ3 IRAK4_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA. 179 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TGTCACAAATAACTTTGATGAAC 0.300 --- 28 --- --- 9 --- TGDS 23483 broad.mit.edu 37 13 95230979 95230984 + Splice_Site DEL CATACC - - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr13:95230979_95230984delCATACC uc001vlw.3 - 8 780 c.659_splice c.e8+1 p.C220_splice NM_014305 NP_055120 O95455 TGDS_HUMAN Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA. 220 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) GTAATAATAACATACCATTTCCTGTT 0.282 --- 66 --- --- 11 --- MYH11 4629 broad.mit.edu 37 16 15931989 15931989 + Frame_Shift_Del DEL C - - TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:15931989delC uc002ddx.3 - 1 228 c.121delG c.(121-123)gagfs p.E41fs MYH11_uc002ddv.3_Frame_Shift_Del_p.E41fs|MYH11_uc002ddw.3_Frame_Shift_Del_p.E41fs|MYH11_uc002ddy.3_Frame_Shift_Del_p.E41fs|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Frame_Shift_Del_p.E41fs NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 41 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CCCTGCTTCTCCGAGGGGACC 0.567 T CBFB AML --- 72 --- --- 31 --- APOBR 55911 broad.mit.edu 37 16 28507398 28507424 + In_Frame_Del DEL GGGACAGCCTCAGGAGGGGAGGAGGCC - - rs71657822 TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad3729b-a761-40f8-99f5-987f84710383 7c24fafb-ffb2-41ce-b81d-4c4fb2b398a4 g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC uc002dqb.2 + 1 1069_1095 c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC c.(1036-1062)gggacagcctcaggaggggaggaggccdel p.GTASGGEEA355del NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR NM_018690 NP_061160 Q0VD83 APOBR_HUMAN Homo sapiens apolipoprotein B receptor (APOBR), mRNA. 355 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle p.G360E(1)|p.D361D(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT 0.705 --- 25 --- --- 8 ---