Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ZNF835 90485 broad.mit.edu 37 19 57176525 57176525 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:57176525C>T ENST00000537055.2 - 2 273 c.42G>A c.(40-42)ttG>ttA p.L14L NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 AGTTTCCTTCCAACTCTGCGC 0.572000 12 30 0 0 0.010729 0 0 ASPM 259266 broad.mit.edu 37 1 197074087 197074087 + Silent SNP T T G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:197074087T>G ENST00000367409.4 - 18 4550 c.4294A>C c.(4294-4296)Aga>Cga p.R1432R ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1432 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTCCATTTTCTGAACATAGAT 0.313000 9 48 0 0 0.004482 0 0 GABRA6 2559 broad.mit.edu 37 5 161128640 161128640 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:161128640C>G ENST00000523217.1 + 9 1435 c.1193C>G c.(1192-1194)tCg>tGg p.S398W GABRA6_ENST00000274545.5_Missense_Mutation_p.S408W NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 408 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCACCACTCTCGCCAGCCTTT 0.468000 TCGA Ovarian(5;0.080) 33 46 0 0 0.009535 0 0 OR8U1 219417 broad.mit.edu 37 11 56143276 56143276 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:56143276G>A ENST00000302270.1 + 1 177 c.177G>A c.(175-177)atG>atA p.M59I NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) ACACACCAATGTACTTCTTTC 0.388000 6 159 0 0 0.004482 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232601073 232601073 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:232601073T>A ENST00000366630.1 - 8 2691 c.2333A>T c.(2332-2334)gAc>gTc p.D778V SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D778V Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 778 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TAAAAGGAAGTCCCGGAACAC 0.453000 16 94 0 0 0.006122 0 0 VNN3 55350 broad.mit.edu 37 6 133044097 133044097 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:133044097G>A ENST00000207771.3 - 8 1543 c.1471C>T c.(1471-1473)Cgc>Tgc p.R491C VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000367927.5_3'UTR vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) TGCCCTAAGCGTGGAGGGTCC 0.488000 7 29 0 0 0.003080 0 0 OR4C6 219432 broad.mit.edu 37 11 55433179 55433179 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:55433179G>T ENST00000314259.3 + 1 566 c.537G>T c.(535-537)ttG>ttT p.L179F NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TATGTGATTTGTTTCAGTTGT 0.433000 35 60 9.04072e-19 1.27291e-18 0.003271 1 0 CELSR1 9620 broad.mit.edu 37 22 46860009 46860009 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:46860009C>T ENST00000262738.3 - 2 3777 c.3778G>A c.(3778-3780)Gtg>Atg p.V1260M CELSR1_ENST00000395964.1_Missense_Mutation_p.V1260M NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1260 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAGAAGGTCACGTTCAGGATG 0.637000 13 56 0 0 0.001855 0 0 SLC39A12 221074 broad.mit.edu 37 10 18331726 18331726 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:18331726G>T ENST00000377369.2 + 13 2313 c.2040G>T c.(2038-2040)ctG>ctT p.L680L SLC39A12_ENST00000539911.1_Silent_p.L546L|SLC39A12_ENST00000377374.4_Silent_p.L643L|SLC39A12_ENST00000377371.3_Silent_p.L679L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 680 Poly-Leu. zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTTCTCTCCTGCTCTTGGCTA 0.343000 6 27 4.096e-09 4.94754e-09 0.001168 1 0 GPR182 11318 broad.mit.edu 37 12 57389146 57389146 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:57389146C>A ENST00000300098.1 + 2 372 c.153C>A c.(151-153)acC>acA p.T51T NM_007264.3 NP_009195.1 O15218 GP182_HUMAN G protein-coupled receptor 182 51 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 15 GCCAGAGCACCAAGCGCGTGG 0.592000 36 70 2.47316e-13 3.15328e-13 0.003271 1 0 NRG3 10718 broad.mit.edu 37 10 84711230 84711230 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:84711230G>A ENST00000372142.2 + 6 671 c.397G>A c.(397-399)Gaa>Aaa p.E133K NRG3_ENST00000404547.1_Missense_Mutation_p.E354K|NRG3_ENST00000404576.2_Missense_Mutation_p.E158K|NRG3_ENST00000537893.1_Missense_Mutation_p.E4K|NRG3_ENST00000372141.2_Missense_Mutation_p.E354K|NRG3_ENST00000556918.1_Missense_Mutation_p.E184K|NRG3_ENST00000545131.1_Missense_Mutation_p.E4K NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 354 Poly-Thr.|Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CACAGAGAGTGAAGAAGTTTA 0.403000 9 23 0 0 0.006214 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367750 145367750 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:145367750G>T ENST00000342960.5 + 83 10381 c.10346G>T c.(10345-10347)gGa>gTa p.G3449V NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3449 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) aaaagaaggggaagaagatca 0.418000 10 47 1.76689e-08 2.09022e-08 0.006214 1 0 PHYKPL 85007 broad.mit.edu 37 5 177642304 177642304 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:177642304A>G ENST00000308158.5 - 9 1289 c.1055T>C c.(1054-1056)aTc>aCc p.I352T PHYKPL_ENST00000481811.1_5'UTR NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase GGGATGTTTGATTTTTTGCTG 0.577000 7 31 0 0 0.001984 0 0 USP24 23358 broad.mit.edu 37 1 55590228 55590228 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:55590228C>T ENST00000294383.6 - 35 4033 c.4034G>A c.(4033-4035)cGg>cAg p.R1345Q USP24_ENST00000407756.1_Missense_Mutation_p.R1185Q NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1345 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 AAGATCAAGCCGTCCTGCAGC 0.428000 7 31 0 0 0.001984 0 0 CD200R1L 344807 broad.mit.edu 37 3 112538705 112538705 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:112538705C>A ENST00000488794.1 - 7 1243 c.654G>T c.(652-654)ctG>ctT p.L218L CD200R1L_ENST00000398214.1_Silent_p.L239L|CD200R1L_ENST00000448932.1_Silent_p.L218L Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 239 Ig-like C2-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 AAAGAATGATCAGTAAGGACA 0.388000 11 32 1.58986e-06 1.82894e-06 0.008291 1 0 ARL1 400 broad.mit.edu 37 12 101790284 101790284 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:101790284G>A ENST00000261636.8 - 5 582 c.408C>T c.(406-408)tcC>tcT p.S136S ARL1_ENST00000551688.1_Silent_p.S7S|ARL1_ENST00000539055.1_Silent_p.S90S|ARL1_ENST00000536227.1_Silent_p.S119S|ARL1_ENST00000551828.1_Silent_p.S119S|ARL1_ENST00000551671.1_Silent_p.S136S NM_001177.4 NP_001168.1 P40616 ARL1_HUMAN ADP-ribosylation factor-like 1 136 small GTPase mediated signal transduction Golgi membrane enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding central_nervous_system(1)|upper_aerodigestive_tract(1) 2 Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163) GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125) CCATCTCTGAGGAAGTCATGG 0.413000 15 74 0 0 0.004990 0 0 CASP2 835 broad.mit.edu 37 7 143000948 143000948 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:143000948G>A ENST00000310447.5 + 9 1280 c.1039G>A c.(1039-1041)Gat>Aat p.D347N CASP2_ENST00000493642.1_3'UTR NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 347 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) CGAGGAGAGTGATGCCGGTAA 0.502000 6 14 0 0 0.001168 0 0 SLC4A8 9498 broad.mit.edu 37 12 51856190 51856190 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:51856190G>C ENST00000453097.2 + 10 1415 c.1198G>C c.(1198-1200)Gag>Cag p.E400Q SLC4A8_ENST00000535225.2_Missense_Mutation_p.E347Q|SLC4A8_ENST00000514353.3_Missense_Mutation_p.E347Q|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E347Q|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E427Q NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 400 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) CCCTCCAGGAGAGTGGGATCC 0.493000 10 41 0 0 0.008291 0 0 PLG 5340 broad.mit.edu 37 6 161139345 161139345 + Silent SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:161139345T>A ENST00000308192.9 + 8 870 c.807T>A c.(805-807)tcT>tcA p.S269S NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 269 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CACCATCTTCTGGTCCCACCT 0.502000 27 52 0 0 0.005443 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750322 167750322 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:167750322G>A ENST00000470487.1 - 9 1851 c.1162C>T c.(1162-1164)Cac>Tac p.H388Y GOLIM4_ENST00000309027.4_Missense_Mutation_p.H360Y NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 388 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GCACGCGCGTGCCCTTCCAGG 0.488000 6 170 0 0 0.001168 0 0 LGR6 59352 broad.mit.edu 37 1 202287145 202287145 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:202287145G>A ENST00000367278.3 + 18 1803 c.1714G>A c.(1714-1716)Gtg>Atg p.V572M LGR6_ENST00000255432.7_Missense_Mutation_p.V520M|LGR6_ENST00000439764.2_Missense_Mutation_p.V433M NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 572 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 GTGGGCCATCGTGTTGCTCTC 0.612000 18 73 0 0 0.004990 0 0 TRBV3-1 28619 broad.mit.edu 37 7 142008650 142008650 + RNA SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:142008650A>C ENST00000390387.3 + 0 170 AGTCCATTAAATGTGAACAAA 0.393000 14 60 0 0 0.004007 0 0 SLC6A19 340024 broad.mit.edu 37 5 1221831 1221831 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:1221831T>C ENST00000304460.10 + 12 1773 c.1717T>C c.(1717-1719)Tcc>Ccc p.S573P NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 573 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) ATTTCCCAAATCCCAGAAGAT 0.577000 13 99 0 0 0.002450 0 0 GATA4 2626 broad.mit.edu 37 8 11606499 11606499 + Nonsense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:11606499C>T ENST00000335135.4 + 3 1246 c.688C>T c.(688-690)Cga>Tga p.R230* GATA4_ENST00000528712.1_Nonsense_Mutation_p.R24*|GATA4_ENST00000532059.1_Nonsense_Mutation_p.R231* NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 230 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) GCTCTGGAGGCGAGATGGGAC 0.567000 18 98 0 0 0.006122 0 0 RAVER1 125950 broad.mit.edu 37 19 10439672 10439672 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:10439672C>T ENST00000293677.6 - 3 534 c.453G>A c.(451-453)ctG>ctA p.L151L NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 134 RRM 2. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TGGCCACACACAGCAGGGCAT 0.657000 3 6 0 0 0.004672 0 0 OR8K3 219473 broad.mit.edu 37 11 56085854 56085854 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:56085854G>T ENST00000312711.1 + 1 72 c.72G>T c.(70-72)caG>caT p.Q24H NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) CTGAGCTGCAGGCACCATTAT 0.433000 32 62 1.88708e-17 2.60112e-17 0.008361 1 0 TOX3 27324 broad.mit.edu 37 16 52497959 52497959 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:52497959C>T ENST00000219746.9 - 3 579 c.295G>A c.(295-297)Gga>Aga p.G99R TOX3_ENST00000407228.3_Missense_Mutation_p.G94R NM_001080430.2 NP_001073899.2 O15405 TOX3_HUMAN TOX high mobility group box family member 3 99 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1) 24 AATTCACTTCCCTGGGAAGGC 0.532000 10 53 0 0 0.008291 0 0 HPX 3263 broad.mit.edu 37 11 6462124 6462124 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:6462124T>A ENST00000265983.3 - 1 170 c.70A>T c.(70-72)Acc>Tcc p.T24S HPX_ENST00000525057.1_Intron NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 24 O-glycosylated at one, two and three sites. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGAAGAGGGGTGGCAATGGCC 0.572000 9 10 0 0 0.010729 0 0 HUWE1 10075 broad.mit.edu 37 X 53571710 53571710 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:53571710C>A ENST00000342160.3 - 71 11519 c.11062G>T c.(11062-11064)Gag>Tag p.E3688* HUWE1_ENST00000262854.6_Nonsense_Mutation_p.E3688*|HUWE1_ENST00000474288.1_5'UTR Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3688 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ACCACATTCTCAGCCATGTCA 0.488000 19 45 1.33834e-09 1.62084e-09 0.007413 1 0 ZNF182 7569 broad.mit.edu 37 X 47836869 47836869 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:47836869T>C ENST00000396965.1 - 7 967 c.617A>G c.(616-618)tAt>tGt p.Y206C ZNF182_ENST00000376943.3_Missense_Mutation_p.Y187C|ZNF182_ENST00000305127.6_Missense_Mutation_p.Y206C NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TTTATAGCCATAGGGCTTCAT 0.358000 22 35 0 0 0.014323 0 0 GABRQ 55879 broad.mit.edu 37 X 151818215 151818215 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:151818215G>T ENST00000370306.2 + 6 641 c.621G>T c.(619-621)acG>acT p.T207T NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 207 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) ATGGTTACACGGTTGAAGACA 0.438000 20 68 3.99206e-14 5.22038e-14 0.007413 1 0 OR4M1 441670 broad.mit.edu 37 14 20249415 20249415 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:20249415G>T ENST00000315957.4 + 1 1015 c.934G>T c.(934-936)Gag>Tag p.E312* NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGTGTGAAGAGAAGTGAAA 0.358000 8 16 0.00307968 0.00327216 0.003080 1 0 ZP4 57829 broad.mit.edu 37 1 238051760 238051760 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:238051760T>C ENST00000366570.4 - 4 609 c.451A>G c.(451-453)Aga>Gga p.R151G RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 151 P-type. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CATGGCAGTCTGTCCCGTGCT 0.478000 22 60 0 0 0.002780 0 0 FAM47B 170062 broad.mit.edu 37 X 34962518 34962518 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:34962518C>A ENST00000329357.5 + 1 1606 c.1570C>A c.(1570-1572)Cgg>Agg p.R524R NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 524 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CGAATTCTTACGGATAAAATA 0.493000 40 34 5.71845e-15 7.60803e-15 0.005524 1 0 SPTA1 6708 broad.mit.edu 37 1 158646039 158646039 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158646039G>T ENST00000368148.3 - 8 1184 c.1004C>A c.(1003-1005)cCt>cAt p.P335H SPTA1_ENST00000368147.3_Missense_Mutation_p.P335H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 335 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) TGCATCTGAAGGATGGGAAAG 0.483000 42 82 3.4345e-17 4.69177e-17 0.011902 1 0 REST 5978 broad.mit.edu 37 4 57796484 57796484 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:57796484A>T ENST00000309042.7 + 4 1774 c.1460A>T c.(1459-1461)cAg>cTg p.Q487L NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 487 Lys-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) TCAGTGATCCAGGTGACTACC 0.378000 7 28 0 0 0.001984 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129095 248129095 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:248129095G>T ENST00000366480.3 + 1 561 c.462G>T c.(460-462)aaG>aaT p.K154N OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGAGCAAGAAGATCTGCTGCC 0.443000 67 121 2.18419e-29 3.20302e-29 0.014410 1 0 GDI1 2664 broad.mit.edu 37 X 153670994 153670994 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:153670994A>C ENST00000447750.2 + 11 1654 c.1319A>C c.(1318-1320)gAc>gCc p.D440A GDI1_ENST00000465640.1_3'UTR NM_001493.2 NP_001484.1 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 440 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAACAGAACGACGTCTTTGGA 0.557000 23 136 0 0 0.014323 0 0 LYPD2 137797 broad.mit.edu 37 8 143832527 143832527 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:143832527G>T ENST00000359228.3 - 2 202 c.120C>A c.(118-120)atC>atA p.I40I NM_205545.1 NP_991108.1 Q6UXB3 LYPD2_HUMAN LY6/PLAUR domain containing 2 40 UPAR/Ly6. anchored to membrane|plasma membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2) 7 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGCAGGTGGCGATGGTGACAC 0.657000 23 150 3.5997e-14 4.73427e-14 0.014323 1 0 A2ML1 144568 broad.mit.edu 37 12 8995922 8995922 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:8995922G>A ENST00000299698.7 + 12 1621 c.1441G>A c.(1441-1443)Gca>Aca p.A481T NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 325 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CCCGGCCGATGCAAGCCCTGA 0.562000 12 24 0 0 0.010729 0 0 GPR119 139760 broad.mit.edu 37 X 129519241 129519241 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:129519241G>T ENST00000276218.2 - 1 270 c.181C>A c.(181-183)Cta>Ata p.L61I NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 61 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 TCTGTGAGTAGGCCAGAGATG 0.567000 89 89 1.09326e-46 1.62924e-46 0.014410 1 0 EGFR 1956 broad.mit.edu 37 7 55259524 55259524 + Missense_Mutation SNP T T A rs121913444 TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:55259524T>A ENST00000275493.2 + 21 2759 c.2582T>A c.(2581-2583)cTg>cAg p.L861Q EGFR_ENST00000454757.2_Missense_Mutation_p.L808Q|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L816Q NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 861 Protein kinase. L -> Q (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L861Q(53)|p.L861R(6) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTGGCCAAACTGCTGGGTGCG 0.557000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 96 60 0 0 0.014410 0 0 SI 6476 broad.mit.edu 37 3 164700152 164700152 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:164700152C>A ENST00000264382.3 - 47 5356 c.5294G>T c.(5293-5295)aGt>aTt p.S1765I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1765 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCTCGTTTCACTTTTATTTAT 0.333000 HNSCC(35;0.089) 36 9 1.36239e-07 1.59525e-07 0.003271 1 0 HELZ 9931 broad.mit.edu 37 17 65104710 65104710 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:65104710T>C ENST00000358691.5 - 30 4788 c.4622A>G c.(4621-4623)cAg>cGg p.Q1541R HELZ_ENST00000580168.1_Missense_Mutation_p.Q1542R NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGGAAGATGCTGGAGGTGAGG 0.582000 22 62 0 0 0.010504 0 0 LRRC7 57554 broad.mit.edu 37 1 70489004 70489004 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:70489004C>T ENST00000310961.5 + 18 2060 c.1642C>T c.(1642-1644)Cca>Tca p.P548S RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.P543S|LRRC7_ENST00000415775.2_Intron Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 543 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CATGTGTACTCCATTGCCAGT 0.542000 21 75 0 0 0.014323 0 0 OR2J2 26707 broad.mit.edu 37 6 29142013 29142013 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:29142013A>G ENST00000377167.2 + 1 703 c.601A>G c.(601-603)Atg>Gtg p.M201V NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 GCTGACCCTCATGGTCATGAG 0.483000 14 119 0 0 0.010504 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232601074 232601074 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:232601074C>A ENST00000366630.1 - 8 2690 c.2332G>T c.(2332-2334)Gac>Tac p.D778Y SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D778Y Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 778 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AAAAGGAAGTCCCGGAACACG 0.453000 16 92 1.67942e-08 2.00221e-08 0.006122 1 0 MUC17 140453 broad.mit.edu 37 7 100686420 100686420 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:100686420C>G ENST00000306151.4 + 3 11787 c.11723C>G c.(11722-11724)cCt>cGt p.P3908R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3908 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTTTTACCCCTTCTACTGAC 0.478000 16 116 0 0 0.006122 0 0 TMEM168 64418 broad.mit.edu 37 7 112424094 112424094 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:112424094T>C ENST00000312814.5 - 2 1347 c.787A>G c.(787-789)Aga>Gga p.R263G TMEM168_ENST00000454074.1_Missense_Mutation_p.R263G NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 263 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 GAAAGTCTTCTGCAAATTCTT 0.353000 29 129 0 0 0.006320 0 0 PSD 5662 broad.mit.edu 37 10 104174961 104174961 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:104174961G>A ENST00000020673.5 - 4 1309 c.783C>T c.(781-783)ccC>ccT p.P261P PSD_ENST00000406432.1_Silent_p.P261P NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 261 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GTGGAGATGGGGGGGCCTGCT 0.622000 27 13 0 0 0.006320 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47123696 47123696 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:47123696G>C ENST00000290341.3 + 14 1936 c.1602G>C c.(1600-1602)caG>caC p.Q534H IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q395H NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 534 KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGAACGACCAGGTCATCGTGA 0.557000 17 55 0 0 0.004990 0 0 FANCF 2188 broad.mit.edu 37 11 22646799 22646799 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:22646799G>A ENST00000327470.3 - 1 588 c.558C>T c.(556-558)gcC>gcT p.A186A NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 186 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 TGAGAAACCTGGCGGGACGCT 0.622000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 42 0 0 0.014410 0 0 ENSA 2029 broad.mit.edu 37 1 150599834 150599834 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:150599834T>C ENST00000503345.1 - 2 402 c.292A>G c.(292-294)Aga>Gga p.R98G ENSA_ENST00000369009.3_Intron|ENSA_ENST00000369014.5_Intron|ENSA_ENST00000369016.4_Intron|ENSA_ENST00000361631.5_Intron|ENSA_ENST00000362052.7_Missense_Mutation_p.R98G|ENSA_ENST00000356527.5_Intron|ENSA_ENST00000339643.5_Intron|ENSA_ENST00000271690.8_Intron|ENSA_ENST00000513281.1_Intron|ENSA_ENST00000361532.5_Intron|ENSA_ENST00000354702.3_Intron|ENSA_ENST00000503241.1_Intron O43768 ENSA_HUMAN endosulfine alpha 0 cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport cytoplasm ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(1) 4 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171) CCTCTACTTCTGTTCAACAAC 0.383000 47 191 0 0 0.013114 0 0 TMEM204 79652 broad.mit.edu 37 16 1584550 1584550 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:1584550G>A ENST00000566264.1 + 1 977 c.274G>A c.(274-276)Gtc>Atc p.V92I IFT140_ENST00000426508.2_Intron|TMEM204_ENST00000253934.5_Missense_Mutation_p.V92I NM_024600.5 NP_078876.2 Q9BSN7 TM204_HUMAN transmembrane protein 204 92 response to stress adherens junction|integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Hepatocellular(780;0.219) CCGAGGCACCGTCAAACGTAA 0.667000 22 66 0 0 0.010504 0 0 LMO4 8543 broad.mit.edu 37 1 87805833 87805833 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:87805833T>C ENST00000370544.5 + 4 1217 c.437T>C c.(436-438)aTc>aCc p.I146T LMO4_ENST00000370542.1_Missense_Mutation_p.I146T|LMO4_ENST00000489303.1_3'UTR NM_006769.3 NP_006760.1 P61968 LMO4_HUMAN LIM domain only 4 146 LIM zinc-binding 2. neural tube closure|transcription from RNA polymerase II promoter transcription factor complex sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1) 9 Lung NSC(277;0.179) all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153) ACAGCTCTCATCAATGGCCAT 0.438000 18 58 0 0 0.008871 0 0 FHDC1 85462 broad.mit.edu 37 4 153897411 153897411 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:153897411A>T ENST00000511601.1 + 12 3156 c.2968A>T c.(2968-2970)Agg>Tgg p.R990W FHDC1_ENST00000260008.3_Missense_Mutation_p.R990W Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 990 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CAAACCACTCAGGAACCTCCC 0.652000 21 7 0 0 0.008871 0 0 STIM2 57620 broad.mit.edu 37 4 27000912 27000912 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:27000912C>G ENST00000382009.3 + 5 1096 c.829C>G c.(829-831)Cac>Gac p.H277D STIM2_ENST00000465503.1_Missense_Mutation_p.H190D|STIM2_ENST00000237364.5_Missense_Mutation_p.H277D|STIM2_ENST00000467087.1_Missense_Mutation_p.H190D|STIM2_ENST00000467011.1_Missense_Mutation_p.H190D|STIM2_ENST00000412829.2_Missense_Mutation_p.H277D NM_001169118.1 NP_001162589.1 Q9P246 STIM2_HUMAN stromal interaction molecule 2 190 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) TGACCGGAGTCACAGACAAAA 0.368000 3 19 0 0 0.009096 0 0 SEC24B 10427 broad.mit.edu 37 4 110415918 110415918 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:110415918C>G ENST00000265175.5 + 6 1449 c.1394C>G c.(1393-1395)aCa>aGa p.T465R SEC24B_ENST00000504968.2_Missense_Mutation_p.T496R|SEC24B_ENST00000399100.2_Missense_Mutation_p.T430R NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 465 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) GGCTATCCAACACTTCAGCCT 0.493000 19 38 0 0 0.006122 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978901 41978901 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:41978901G>A ENST00000372584.1 - 7 7005 c.5991C>T c.(5989-5991)tgC>tgT p.C1997C HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Silent_p.C1997C|HIVEP3_ENST00000429157.2_Silent_p.C1997C|HIVEP3_ENST00000247584.5_Silent_p.C1997C NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1997 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGCCGGGGAGCATCGCTGGG 0.637000 29 54 0 0 0.005443 0 0 FUNDC2 65991 broad.mit.edu 37 X 154282872 154282872 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:154282872G>T ENST00000369498.3 + 5 749 c.495G>T c.(493-495)gtG>gtT p.V165V FUNDC2_ENST00000484175.1_3'UTR NM_023934.3 NP_076423.2 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 165 mitochondrion breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTTTTCAGGTGGTGTCATTTG 0.373000 29 96 2.47511e-08 2.9205e-08 0.008361 1 0 RAP2A 5911 broad.mit.edu 37 13 98086961 98086961 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr13:98086961C>T ENST00000245304.4 + 1 486 c.237C>T c.(235-237)atC>atT p.I79I NM_021033.6 NP_066361.1 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family 79 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) AGGGCTTCATCCTCGTCTACA 0.632000 11 49 0 0 0.008291 0 0 OR10G2 26534 broad.mit.edu 37 14 22102534 22102534 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:22102534G>T ENST00000542433.1 - 1 562 c.465C>A c.(463-465)gtC>gtA p.V155V NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TGGAGCCGGCGACCCAAGCTC 0.562000 33 33 2.85442e-18 3.97023e-18 0.010818 1 0 NES 10763 broad.mit.edu 37 1 156639370 156639370 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:156639370C>T ENST00000368223.3 - 4 4742 c.4610G>A c.(4609-4611)gGc>gAc p.G1537D NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1537 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGACCCTGGCCATTAACACC 0.582000 26 69 0 0 0.003954 0 0 HIST1H3E 8353 broad.mit.edu 37 6 26225469 26225469 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:26225469C>A ENST00000360408.1 + 1 87 c.87C>A c.(85-87)agC>agA p.S29R NM_003532.2 NP_003523.1 P68431 H31_HUMAN histone cluster 1, H3e 29 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(5)|skin(1) 8 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) CTCGCAAGAGCGCTCCGGCCA 0.607000 17 71 3.45872e-05 3.86266e-05 0.004007 1 0 OR4A47 403253 broad.mit.edu 37 11 48510625 48510625 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:48510625C>G ENST00000446524.1 + 1 357 c.281C>G c.(280-282)tCt>tGt p.S94C NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TCCTTCCAATCTTGCATGGCC 0.438000 17 120 0 0 0.007413 0 0 ETS2 2114 broad.mit.edu 37 21 40191522 40191522 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr21:40191522C>T ENST00000360214.3 + 9 1367 c.907C>T c.(907-909)Ctg>Ttg p.L303L ETS2_ENST00000360938.3_Silent_p.L303L NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 303 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) GTCGTCCTTGCTGGATGTGCA 0.557000 16 17 0 0 0.003163 0 0 PRDM14 63978 broad.mit.edu 37 8 70980575 70980575 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:70980575C>A ENST00000276594.2 - 4 1003 c.802G>T c.(802-804)Gtg>Ttg p.V268L NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 268 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CTGCAGAACACACCAAAATGT 0.478000 14 16 0.000151284 0.000165727 0.001855 1 0 PRDM9 56979 broad.mit.edu 37 5 23527452 23527452 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:23527452A>T ENST00000296682.3 + 11 2437 c.2255A>T c.(2254-2256)gAg>gTg p.E752V NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 752 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GTCTGCAGGGAGTGTGGGCGG 0.592000 HNSCC(3;0.000094) 100 96 0 0 0.014410 0 0 ARID4B 51742 broad.mit.edu 37 1 235359370 235359370 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:235359370C>A ENST00000264183.3 - 18 2399 c.1902G>T c.(1900-1902)aaG>aaT p.K634N ARID4B_ENST00000349213.3_Missense_Mutation_p.K548N|ARID4B_ENST00000366603.2_Missense_Mutation_p.K634N NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 634 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GATGTTTTATCTTTGGCACAT 0.269000 4 18 0.00909568 0.00946693 0.009096 1 0 NUP205 23165 broad.mit.edu 37 7 135258468 135258468 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:135258468C>G ENST00000285968.6 + 3 264 c.238C>G c.(238-240)Caa>Gaa p.Q80E NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 80 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CATTCAGGGTCAACAGGGAAC 0.393000 9 26 0 0 0.004482 0 0 ZNF160 90338 broad.mit.edu 37 19 53572747 53572747 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:53572747C>T ENST00000601421.1 - 3 1808 c.932G>A c.(931-933)gGa>gAa p.G311E ZNF160_ENST00000429604.1_Missense_Mutation_p.G347E|ZNF160_ENST00000599056.1_Missense_Mutation_p.G347E|ZNF160_ENST00000418871.1_Missense_Mutation_p.G347E Q9HCG1 ZN160_HUMAN zinc finger protein 160 347 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) AAAGGCTTTTCCACACTCATT 0.403000 15 51 0 0 0.003163 0 0 PCSK1 5122 broad.mit.edu 37 5 95728928 95728928 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:95728928G>T ENST00000311106.3 - 14 2276 c.2039C>A c.(2038-2040)cCg>cAg p.P680Q PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.P633Q NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 680 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTGCTTTGGCGGTGAGTTTTT 0.532000 38 67 8.73648e-17 1.17942e-16 0.004289 1 0 ITGA2 3673 broad.mit.edu 37 5 52360854 52360854 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:52360854T>A ENST00000296585.5 + 14 1858 c.1715T>A c.(1714-1716)gTg>gAg p.V572E NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 572 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TTTAATGATGTGATTGTTGGT 0.428000 39 49 0 0 0.005524 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144381787 144381787 + Silent SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:144381787T>A ENST00000295095.6 + 12 1256 c.1089T>A c.(1087-1089)ccT>ccA p.P363P NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 363 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) GGGAGCTGCCTGAGCCGCTCT 0.507000 20 16 0 0 0.010504 0 0 CLP1 10978 broad.mit.edu 37 11 57428602 57428602 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:57428602G>A ENST00000533682.1 + 3 1697 c.972G>A c.(970-972)gtG>gtA p.V324V CLP1_ENST00000302731.4_Silent_p.V260V|CLP1_ENST00000529430.1_Silent_p.V335V|CLP1_ENST00000525602.1_Silent_p.V324V Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 324 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 TTTCAGATGTGAAAATCTACA 0.468000 32 152 0 0 0.003271 0 0 RPL4 6124 broad.mit.edu 37 15 66795792 66795792 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr15:66795792C>A ENST00000307961.6 - 2 171 c.79G>T c.(79-81)Gta>Tta p.V27L RPL4_ENST00000568588.1_5'UTR NM_000968.3 NP_000959.2 P36578 RL4_HUMAN ribosomal protein L4 27 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 GCCTTGAATACAGCAGGCAAA 0.443000 13 21 6.81908e-15 9.04612e-15 0.002450 1 0 INSM1 3642 broad.mit.edu 37 20 20350422 20350422 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:20350422T>C ENST00000310227.1 + 1 1658 c.1511T>C c.(1510-1512)gTg>gCg p.V504A NM_002196.2 NP_002187.1 Q01101 INSM1_HUMAN insulinoma-associated 1 504 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) CTCCTGCAGGTGCCCGTGCGC 0.657000 5 24 0 0 0.000602 0 0 FLNC 2318 broad.mit.edu 37 7 128494178 128494178 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:128494178A>T ENST00000325888.8 + 40 6896 c.6635A>T c.(6634-6636)cAg>cTg p.Q2212L RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.Q2179L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2212 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GAGTCCACCCAGGTCGGCGGG 0.692000 13 16 0 0 0.001855 0 0 GALNTL5 168391 broad.mit.edu 37 7 151680215 151680215 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:151680215G>A ENST00000392800.2 + 4 767 c.513G>A c.(511-513)ttG>ttA p.L171L GALNTL5_ENST00000431418.2_Silent_p.L171L NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 171 Catalytic subdomain A. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) AAATTATTTTGGTAGATGACA 0.388000 28 54 0 0 0.006320 0 0 ITGA4 3676 broad.mit.edu 37 2 182387061 182387061 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:182387061T>C ENST00000397033.2 + 18 2496 c.2066T>C c.(2065-2067)tTa>tCa p.L689S NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 689 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATTAAGATTTTAGAGCTGGTA 0.338000 25 15 0 0 0.004656 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475866 140475866 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140475866C>T ENST00000194155.4 + 1 1640 c.1492C>T c.(1492-1494)Ccg>Tcg p.P498S NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 498 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCCAGGACCCGCACCTGCC 0.672000 32 182 0 0 0.006230 0 0 PI15 51050 broad.mit.edu 37 8 75756296 75756296 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:75756296G>A ENST00000260113.2 + 3 533 c.354G>A c.(352-354)ctG>ctA p.L118L RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.L118L|RP11-758M4.4_ENST00000518128.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 118 extracellular region peptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CTTACTTACTGAGATTTTTGG 0.423000 7 40 0 0 0.003080 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857071 19857071 + RNA SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:19857071C>G ENST00000548109.1 + 0 72 CACCAACCAGCTGAAAGTAAA 0.343000 7 44 0 0 0.001984 0 0 PDIA5 10954 broad.mit.edu 37 3 122849399 122849399 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:122849399C>T ENST00000316218.7 + 11 941 c.846C>T c.(844-846)acC>acT p.T282T NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 282 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) ATCACCTGACCGATGAAGACT 0.582000 12 62 0 0 0.010729 0 0 SEMA4C 54910 broad.mit.edu 37 2 97526514 97526514 + Nonsense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:97526514G>C ENST00000305476.5 - 15 2483 c.2351C>G c.(2350-2352)tCa>tGa p.S784* NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 784 muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 ATTGGCATTTGAGTTCCGCCC 0.667000 36 73 0 0 0.005524 0 0 FGFR1 2260 broad.mit.edu 37 8 38314957 38314957 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:38314957C>A ENST00000447712.2 - 2 949 c.8G>T c.(7-9)aGc>aTc p.S3I FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000397091.5_Missense_Mutation_p.S3I|FGFR1_ENST00000397113.2_Missense_Mutation_p.S3I|FGFR1_ENST00000397108.4_Missense_Mutation_p.S3I|FGFR1_ENST00000425967.3_Missense_Mutation_p.S36I|FGFR1_ENST00000326324.6_Missense_Mutation_p.S3I|FGFR1_ENST00000341462.5_Missense_Mutation_p.S3I|FGFR1_ENST00000532791.1_Missense_Mutation_p.S3I|FGFR1_ENST00000397103.1_Missense_Mutation_p.S3I|FGFR1_ENST00000356207.5_Missense_Mutation_p.S3I NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 3 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GCACTTCCAGCTCCACATCCC 0.572000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 24 13 1.64293e-13 2.10058e-13 0.003330 1 0 DNAH5 1767 broad.mit.edu 37 5 13714584 13714584 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:13714584C>A ENST00000265104.4 - 75 13159 c.13055G>T c.(13054-13056)cGg>cTg p.R4352L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4352 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) CACCGCCTCCCGGGTCTCATC 0.562000 Kartagener syndrome 41 83 9.85521e-28 1.44062e-27 0.006230 1 0 OR10W1 81341 broad.mit.edu 37 11 58034596 58034596 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:58034596G>T ENST00000395079.2 - 1 1136 c.735C>A c.(733-735)tgC>tgA p.C245* NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C245*(1) kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) TGAAGGCACAGCAGCCATACT 0.592000 17 64 4.14922e-12 5.20353e-12 0.004007 1 0 HGFAC 3083 broad.mit.edu 37 4 3447936 3447936 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:3447936G>C ENST00000382774.3 + 10 1385 c.1270G>C c.(1270-1272)Gcc>Ccc p.A424P HGFAC_ENST00000511533.1_Missense_Mutation_p.A431P NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 424 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTGGCTGGCCGCCATCTACAT 0.697000 6 9 0 0 0.001168 0 0 FAM211B 388886 broad.mit.edu 37 22 24981999 24981999 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:24981999C>T ENST00000318753.8 - 4 826 c.803G>A c.(802-804)aGc>aAc p.S268N GGT1_ENST00000248923.4_Intron NM_207644.2 NP_997527.2 Q2VPJ9 LRC6X_HUMAN family with sequence similarity 211, member B 268 GGTGCGCTGGCTCAGCCGCCG 0.687000 16 66 0 0 0.003163 0 0 MPPE1 65258 broad.mit.edu 37 18 11889438 11889438 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr18:11889438G>A ENST00000588072.1 - 5 1663 c.442C>T c.(442-444)Cat>Tat p.H148Y MPPE1_ENST00000399978.2_Missense_Mutation_p.H148Y|MPPE1_ENST00000344987.7_Missense_Mutation_p.H148Y|MPPE1_ENST00000317235.7_Missense_Mutation_p.H148Y|MPPE1_ENST00000309976.9_Missense_Mutation_p.H148Y NM_023075.5 NP_075563.3 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 148 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 AGCTGTACATGACTTGGGTGT 0.483000 13 32 0 0 0.013537 0 0 ZNF678 339500 broad.mit.edu 37 1 227843036 227843036 + Nonsense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:227843036C>G ENST00000343776.4 + 4 1430 c.1085C>G c.(1084-1086)tCa>tGa p.S362* ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.S417* F5GXA7 F5GXA7_HUMAN zinc finger protein 678 417 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) ACTCAATTCTCAAACCTCACT 0.383000 5 37 0 0 0.000602 0 0 PKNOX1 5316 broad.mit.edu 37 21 44438242 44438242 + Splice_Site SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr21:44438242G>T ENST00000291547.5 + 7 833 c.e7-1 PKNOX1_ENST00000432907.2_Splice_Site NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 TCCCTTTCGAGGTGGCACAGT 0.423000 25 16 5.35047e-06 6.06387e-06 0.003330 1 0 GRIN2A 2903 broad.mit.edu 37 16 10273919 10273919 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:10273919G>A ENST00000396573.2 - 3 659 c.350C>T c.(349-351)tCc>tTc p.S117F GRIN2A_ENST00000562109.1_Missense_Mutation_p.S117F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S117F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S117F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S117F NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 117 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTGTGGGAGGAGATAAAATC 0.607000 4 60 0 0 0.009096 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978898 41978898 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:41978898G>A ENST00000372584.1 - 7 7008 c.5994C>T c.(5992-5994)tcC>tcT p.S1998S HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Silent_p.S1998S|HIVEP3_ENST00000429157.2_Silent_p.S1998S|HIVEP3_ENST00000247584.5_Silent_p.S1998S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1998 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCGGGCCGGGGAGCATCGCT 0.627000 27 52 0 0 0.003954 0 0 DSCAML1 57453 broad.mit.edu 37 11 117376278 117376278 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:117376278C>A ENST00000321322.6 - 9 2134 c.2133G>T c.(2131-2133)atG>atT p.M711I DSCAML1_ENST00000527706.1_Missense_Mutation_p.M441I NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 651 Ig-like C2-type 8. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCAGGGAGCTCATGAATTCCT 0.602000 13 42 5.50884e-06 6.22797e-06 0.013537 1 0 CACNG6 59285 broad.mit.edu 37 19 54502940 54502940 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:54502940C>A ENST00000252729.2 + 3 1049 c.459C>A c.(457-459)gcC>gcA p.A153A CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 153 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CAGTCATGGCCTTGGGGTGCC 0.567000 110 127 3.30846e-59 4.94652e-59 0.014410 1 0 DGKD 8527 broad.mit.edu 37 2 234359623 234359623 + Missense_Mutation SNP T T G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:234359623T>G ENST00000264057.2 + 17 2106 c.2094T>G c.(2092-2094)agT>agG p.S698R DGKD_ENST00000409813.3_Missense_Mutation_p.S654R NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 698 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity p.S698S(1) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CCCTAGGCAGTTCTGCTTCCC 0.567000 44 60 0 0 0.009718 0 0 NBPF14 25832 broad.mit.edu 37 1 148017573 148017573 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:148017573G>A ENST00000369219.1 - 6 726 c.710C>T c.(709-711)tCg>tTg p.S237L Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 237 NBPF 2. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGACTTGTACGAGGCCAACAT 0.478000 28 494 0 0 0.014410 0 0 SYNE1 23345 broad.mit.edu 37 6 152738009 152738009 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:152738009C>A ENST00000367255.5 - 41 6164 c.5563G>T c.(5563-5565)Gag>Tag p.E1855* SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E1862*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E1892*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E1855*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E1862* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1855 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGCTGGCCTCCTCAAACAGC 0.602000 HNSCC(10;0.0054) 9 60 1.76689e-08 2.09022e-08 0.006214 1 0 PRDM2 7799 broad.mit.edu 37 1 14109132 14109132 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:14109132G>C ENST00000235372.7 + 8 5698 c.4842G>C c.(4840-4842)agG>agC p.R1614S PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1413S|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1614S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R1413S NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1614 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TGCACGTGAGGGTACAGAAAA 0.458000 12 60 0 0 0.013537 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43896082 43896082 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:43896082C>G ENST00000389420.3 - 4 739 c.740G>C c.(739-741)aGa>aCa p.R247T ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R247T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 247 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCTGGAATGTCTTCTTTCATC 0.338000 12 42 0 0 0.010729 0 0 PKD1L1 168507 broad.mit.edu 37 7 47842862 47842862 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:47842862C>A ENST00000289672.2 - 53 7958 c.7908G>T c.(7906-7908)atG>atT p.M2636I C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2636 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGCAGGATGCCATTGTGTTTT 0.478000 15 43 0.00316338 0.00335333 0.003163 1 0 ZNF212 7988 broad.mit.edu 37 7 148951158 148951158 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:148951158C>G ENST00000335870.2 + 5 1268 c.1140C>G c.(1138-1140)tgC>tgG p.C380W NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GCTTCAGCTGCAAGGTGAGCC 0.612000 9 9 0 0 0.004482 0 0 PHF21A 51317 broad.mit.edu 37 11 45967443 45967443 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:45967443G>A ENST00000257821.4 - 14 2023 c.1400C>T c.(1399-1401)aCt>aTt p.T467I PHF21A_ENST00000418153.2_Missense_Mutation_p.T466I|PHF21A_ENST00000323180.6_Intron|PHF21A_ENST00000527753.1_Intron NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 466 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TGCAGGGAAAGTGAATGTGGT 0.507000 7 64 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9065356 9065356 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:9065356G>C ENST00000397910.4 - 3 22293 c.22090C>G c.(22090-22092)Cac>Gac p.H7364D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7366 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCTCTGAGTGTGGCAATCTC 0.507000 10 25 0 0 0.006214 0 0 PREX1 57580 broad.mit.edu 37 20 47317347 47317347 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:47317347C>A ENST00000396220.1 - 7 883 c.861G>T c.(859-861)caG>caT p.Q287H PREX1_ENST00000371941.3_Missense_Mutation_p.Q287H Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 287 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) AGGCCCTTTCCTGGATGTTGC 0.562000 41 109 2.95478e-19 4.18593e-19 0.008740 1 0 NRXN2 9379 broad.mit.edu 37 11 64418777 64418777 + Silent SNP C C A rs116802246 by1000genomes TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:64418777C>A ENST00000265459.6 - 14 3329 c.2868G>T c.(2866-2868)ctG>ctT p.L956L NRXN2_ENST00000409571.1_Silent_p.L949L|NRXN2_ENST00000377551.1_Silent_p.L956L|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Silent_p.L916L NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 956 Laminin G-like 5. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CCGAGTTGAACAGAAGAAGCC 0.592000 OREG0004037|OREG0021057 type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 40 6.49762e-13 8.19343e-13 0.006122 1 0 ANGEL1 23357 broad.mit.edu 37 14 77255719 77255719 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:77255719T>C ENST00000251089.2 - 10 1977 c.1865A>G c.(1864-1866)tAt>tGt p.Y622C ANGEL1_ENST00000557179.1_Missense_Mutation_p.Y187C NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 622 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) TCCATCTCGATACAGCCTGTG 0.557000 40 24 0 0 0.006230 0 0 ZNF534 147658 broad.mit.edu 37 19 52938390 52938390 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:52938390T>C ENST00000332323.6 + 3 299 c.238T>C c.(238-240)Tgg>Cgg p.W80R ZNF534_ENST00000301085.4_Missense_Mutation_p.W67R|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.W67R NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 80 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 GAGAGATCCCTGGACTCTGCA 0.463000 8 20 0 0 0.003080 0 0 HSPA8 3312 broad.mit.edu 37 11 122930391 122930391 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:122930391C>T ENST00000534624.1 - 5 1186 c.910G>A c.(910-912)Gaa>Aaa p.E304K HSPA8_ENST00000532636.1_Missense_Mutation_p.E304K|HSPA8_ENST00000533540.1_Missense_Mutation_p.E158K|HSPA8_ENST00000534319.1_Missense_Mutation_p.E68K|HSPA8_ENST00000227378.3_Missense_Mutation_p.E304K|HSPA8_ENST00000526110.1_Missense_Mutation_p.E285K|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000453788.2_Missense_Mutation_p.E304K NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 304 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCATTCAGTTCTTCAAATCGG 0.488000 13 51 0 0 0.013537 0 0 EHD3 30845 broad.mit.edu 37 2 31489255 31489255 + Silent SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:31489255A>T ENST00000322054.5 + 6 1578 c.1293A>T c.(1291-1293)ggA>ggT p.G431G EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 431 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) AGGGGGCTGGAGAAGGTATCG 0.627000 15 24 0 0 0.003163 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799084 57799084 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:57799084G>T ENST00000302622.3 + 1 683 c.660G>T c.(658-660)gtG>gtT p.V220V OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) TCATTGCTGTGTCCTATGGCA 0.562000 26 80 7.92952e-12 9.9173e-12 0.003954 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125298677 125298677 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:125298677G>T ENST00000538699.1 - 2 1311 c.1231C>A c.(1231-1233)Ctc>Atc p.L411I DCAF12L2_ENST00000360028.2_Missense_Mutation_p.L411I NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 411 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 TCTTGGTTGAGCCAGCCTCTG 0.612000 31 106 1.62565e-12 2.04431e-12 0.012213 1 0 FUCA1 2517 broad.mit.edu 37 1 24172269 24172269 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:24172269T>A ENST00000374479.3 - 8 1344 c.1337A>T c.(1336-1338)cAg>cTg p.Q446L NM_000147.4 NP_000138.2 P04066 FUCO_HUMAN fucosidase, alpha-L- 1, tissue 446 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) GGGTGGCAACTGGGGTAGAGA 0.463000 4 87 0 0 0.009096 0 0 NPAP1 23742 broad.mit.edu 37 15 24923368 24923368 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr15:24923368C>A ENST00000329468.2 + 1 2828 c.2354C>A c.(2353-2355)tCt>tAt p.S785Y NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CAGAAAACCTCTCTCCCCAGT 0.547000 65 66 3.36121e-32 4.97675e-32 0.014410 1 0 KLF17 128209 broad.mit.edu 37 1 44596220 44596220 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:44596220C>T ENST00000372299.3 + 3 1020 c.962C>T c.(961-963)tCa>tTa p.S321L KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 321 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GAAAGTTGTTCATGGTCTTTC 0.463000 44 62 0 0 0.009718 0 0 HEPHL1 341208 broad.mit.edu 37 11 93834393 93834393 + Missense_Mutation SNP G G A rs142611571 by1000genomes TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:93834393G>A ENST00000315765.9 + 14 2475 c.2467G>A c.(2467-2469)Gtc>Atc p.V823I NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 823 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GGGCAACACCGTCCTGATCAT 0.448000 20 86 0 0 0.010504 0 0 OR4A47 403253 broad.mit.edu 37 11 48510902 48510902 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:48510902C>T ENST00000446524.1 + 1 634 c.558C>T c.(556-558)gtC>gtT p.V186V NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGAAACTGGTCTGCACTGACA 0.433000 22 125 0 0 0.002780 0 0 CENPF 1063 broad.mit.edu 37 1 214818194 214818194 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:214818194G>C ENST00000366955.3 + 13 5449 c.5281G>C c.(5281-5283)Gat>Cat p.D1761H NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1857 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GGTACCTATGGATTTCCTGGG 0.408000 13 39 0 0 0.002450 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687694 27687694 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:27687694C>G ENST00000438700.3 - 4 1950 c.1833G>C c.(1831-1833)ttG>ttC p.L611F NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 611 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 TTATGATGTACAAAACATATA 0.368000 5 26 0 0 0.000602 0 0 CACNA1F 778 broad.mit.edu 37 X 49068380 49068380 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:49068380G>T ENST00000376265.2 - 35 4172 c.4111C>A c.(4111-4113)Cag>Aag p.Q1371K CACNA1F_ENST00000376251.1_Missense_Mutation_p.Q1306K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Q1360K NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1371 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) AGCACAGCCTGTGGAAAGGTC 0.562000 13 42 2.27111e-07 2.64579e-07 0.013537 1 0 RRM2 6241 broad.mit.edu 37 2 10263558 10263558 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:10263558G>A ENST00000360566.2 + 3 690 c.399G>A c.(397-399)ctG>ctA p.L133L RRM2_ENST00000304567.5_Silent_p.L73L NM_001165931.1 NP_001159403.1 P31350 RIR2_HUMAN ribonucleotide reductase M2 73 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) AGCCGCTGCTGAGAGAAAACC 0.517000 14 49 0 0 0.002450 0 0 IL9R 3581 broad.mit.edu 37 X 155235830 155235830 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:155235830C>A ENST00000424344.3 + 8 1168 c.801C>A c.(799-801)taC>taA p.Y267* IL9R_ENST00000244174.5_Nonsense_Mutation_p.Y288*|IL9R_ENST00000540897.1_Nonsense_Mutation_p.Y313*|IL9R_ENST00000369423.2_Nonsense_Mutation_p.Y323*|IL9R_ENST00000494962.1_3'UTR Q01113 IL9R_HUMAN interleukin 9 receptor 288 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCCCGACCTACCTCCTGTTCA 0.582000 31 31 1.36615e-20 1.96571e-20 0.013726 1 0 TRIM37 4591 broad.mit.edu 37 17 57109262 57109262 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:57109262G>A ENST00000376149.3 - 18 2386 c.1577C>T c.(1576-1578)cCc>cTc p.P526L TRIM37_ENST00000262294.7_Missense_Mutation_p.P648L|TRIM37_ENST00000393065.2_Missense_Mutation_p.P614L|TRIM37_ENST00000393066.3_Missense_Mutation_p.P648L O94972 TRI37_HUMAN tripartite motif containing 37 648 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTTACCTGTGGGCTGCAGAAG 0.373000 Mulibrey Nanism 18 89 0 0 0.004990 0 0 DYTN 391475 broad.mit.edu 37 2 207564892 207564892 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:207564892C>A ENST00000452335.2 - 6 648 c.532G>T c.(532-534)Gcc>Tcc p.A178S DYTN_ENST00000477734.1_5'UTR NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 178 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) CTGCGGGTGGCACTTTCCACA 0.498000 6 51 8.12818e-05 8.92545e-05 0.001984 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307243 39307243 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:39307243A>T ENST00000541347.1 - 2 997 c.758T>A c.(757-759)cTg>cAg p.L253Q CX3CR1_ENST00000358309.3_Missense_Mutation_p.L285Q|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L253Q|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L253Q NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 253 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) AAGCGTCTCCAGGAAAATCAT 0.468000 37 23 0 0 0.005524 0 0 NEDD9 4739 broad.mit.edu 37 6 11190595 11190595 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:11190595T>A ENST00000379446.5 - 5 1673 c.1507A>T c.(1507-1509)Agc>Tgc p.S503C NEDD9_ENST00000504387.1_Missense_Mutation_p.S503C|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 503 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) AAGTCATGGCTGGTTTGACTC 0.517000 16 59 0 0 0.003163 0 0 KIAA0408 9729 broad.mit.edu 37 6 127768217 127768217 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:127768217G>A ENST00000483725.3 - 5 1583 c.1247C>T c.(1246-1248)gCa>gTa p.A416V SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 416 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) ACTGCTCTCTGCTACTGAGGA 0.418000 8 42 0 0 0.003080 0 0 VAMP7 6845 broad.mit.edu 37 X 155119210 155119210 + Splice_Site SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:155119210G>A ENST00000460621.1 + 2 161 c.81_splice c.e2+1 p.E27_splice VAMP7_ENST00000262640.6_Silent_p.E27E|VAMP7_ENST00000286448.6_Silent_p.E27E|VAMP7_ENST00000479687.1_3'UTR P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 27 Longin. calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding large_intestine(1)|lung(8) 9 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACTTCCTGGAGGTGACAGAGC 0.458000 12 60 0 0 0.010729 0 0 PRPF19 27339 broad.mit.edu 37 11 60658701 60658701 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:60658701C>G ENST00000227524.4 - 16 1657 c.1452G>C c.(1450-1452)ggG>ggC p.G484G NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 484 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 TGGCGTGATGCCCGAAGGCCA 0.542000 15 22 0 0 0.004007 0 0 ITIH6 347365 broad.mit.edu 37 X 54800519 54800519 + Nonsense_Mutation SNP C C A rs145132163 by1000genomes TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:54800519C>A ENST00000218436.6 - 6 927 c.898G>T c.(898-900)Gaa>Taa p.E300* NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 300 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GTTACCTGTTCCATCTTGGTA 0.463000 4 15 0.00909568 0.00946693 0.009096 1 0 ZFP14 57677 broad.mit.edu 37 19 36831589 36831589 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:36831589C>T ENST00000270001.7 - 5 1254 c.1139G>A c.(1138-1140)aGa>aAa p.R380K NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) TAGTTGTTGTCTTAATCTAAA 0.373000 21 35 0 0 0.012319 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764374 109764374 + RNA SNP T T G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:109764374T>G ENST00000602699.1 + 0 835 NR_002718.2 TGCAGGAAGATGGTCCGCTTC 0.453000 13 48 0 0 0.001855 0 0 SYTL4 94121 broad.mit.edu 37 X 99956569 99956569 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:99956569C>A ENST00000372981.1 - 3 397 c.211G>T c.(211-213)Ggc>Tgc p.G71C SYTL4_ENST00000455616.1_Missense_Mutation_p.G71C|SYTL4_ENST00000372989.1_Missense_Mutation_p.G71C|SYTL4_ENST00000454200.2_Missense_Mutation_p.G71C|SYTL4_ENST00000263033.5_Missense_Mutation_p.G71C|SYTL4_ENST00000276141.6_Missense_Mutation_p.G71C Q96C24 SYTL4_HUMAN synaptotagmin-like 4 71 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCAAACGGCCCAGGCTCTCC 0.542000 28 51 1.5548e-18 2.16916e-18 0.005443 1 0 TRPC3 7222 broad.mit.edu 37 4 122835998 122835998 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:122835998C>T ENST00000264811.5 - 3 1477 c.1059G>A c.(1057-1059)gtG>gtA p.V353V TRPC3_ENST00000513531.1_Intron|TRPC3_ENST00000379645.3_Silent_p.V426V NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 341 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity p.V353V(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CCACGACCAGCACAACGAGAC 0.542000 8 14 0 0 0.006214 0 0 SLC25A48 153328 broad.mit.edu 37 5 135207197 135207197 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:135207197G>T ENST00000274513.5 + 5 641 c.469G>T c.(469-471)Gca>Tca p.A157S SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000420621.1_Missense_Mutation_p.A157S|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.A103S Q6ZT89 S2548_HUMAN solute carrier family 25, member 48 157 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 GGAGCAGCCAGCATACCAGGG 0.612000 21 67 5.35356e-11 6.64131e-11 0.002780 1 0 AGAP3 116988 broad.mit.edu 37 7 150784108 150784108 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:150784108G>C ENST00000397238.2 + 1 280 c.280G>C c.(280-282)Gag>Cag p.E94Q AGAP3_ENST00000463381.1_Intron|AGAP3_ENST00000479901.1_Missense_Mutation_p.E94Q|AGAP3_ENST00000473312.1_Missense_Mutation_p.E94Q NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 58 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 CGAGCGCATCGAGGATTTGGC 0.662000 6 16 0 0 0.001168 0 0 PTPRN2 5799 broad.mit.edu 37 7 157475553 157475553 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:157475553G>T ENST00000389413.3 - 12 1881 c.1778C>A c.(1777-1779)tCc>tAc p.S593Y PTPRN2_ENST00000389418.4_Missense_Mutation_p.S622Y|PTPRN2_ENST00000409483.1_Missense_Mutation_p.S584Y|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S605Y|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S645Y NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 622 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) GCAGGCGAGGGAGACCAGGGT 0.597000 32 39 6.04164e-23 8.74799e-23 0.010818 1 0 SLC9A7 84679 broad.mit.edu 37 X 46618393 46618393 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:46618393C>T ENST00000328306.4 - 1 97 c.72G>A c.(70-72)ctG>ctA p.L24L NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 24 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 gcagcggcagcagcagcagcc 0.796000 6 6 0 0 0.001168 0 0 TRPC4 7223 broad.mit.edu 37 13 38211107 38211107 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr13:38211107C>T ENST00000379705.3 - 11 3724 c.2867G>A c.(2866-2868)aGt>aAt p.S956N TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.S815N|TRPC4_ENST00000338947.5_Missense_Mutation_p.S783N|TRPC4_ENST00000379679.1_Missense_Mutation_p.S783N|TRPC4_ENST00000355779.2_Missense_Mutation_p.S815N|TRPC4_ENST00000379681.3_Missense_Mutation_p.S961N|TRPC4_ENST00000379673.2_Missense_Mutation_p.S807N|TRPC4_ENST00000358477.2_Missense_Mutation_p.S872N Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 956 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ATAGTCTATACTAGAGTCCTC 0.438000 14 22 0 0 0.001855 0 0 DHX37 57647 broad.mit.edu 37 12 125449154 125449154 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:125449154C>G ENST00000308736.2 - 15 1929 c.1831G>C c.(1831-1833)Gag>Cag p.E611Q DHX37_ENST00000544745.1_Missense_Mutation_p.E398Q NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 611 Helicase C-terminal. 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) CGAGTCCCCTCCGGTGGAGGC 0.542000 5 65 0 0 0.000602 0 0 PRR23C 389152 broad.mit.edu 37 3 138762829 138762829 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:138762829G>A ENST00000413199.1 - 1 905 c.634C>T c.(634-636)Cgc>Tgc p.R212C PRR23C_ENST00000502927.2_Missense_Mutation_p.R212C|MRPS22_ENST00000495075.1_Intron NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 212 Pro-rich. breast(2)|lung(7)|skin(2) 11 AAGATGGGGCGTGGAGAGCGT 0.647000 10 11 0 0 0.006214 0 0 ODF3L2 284451 broad.mit.edu 37 19 463978 463978 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:463978C>A ENST00000315489.4 - 4 971 c.736G>T c.(736-738)Gag>Tag p.E246* ODF3L2_ENST00000382696.3_Nonsense_Mutation_p.E210* NM_182577.2 NP_872383.1 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 246 large_intestine(1)|lung(2) 3 GTGACCTGCTCTGGGCAGTGG 0.716000 10 13 2.17888e-05 2.44524e-05 0.006214 1 0 ALPI 248 broad.mit.edu 37 2 233323045 233323045 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:233323045G>A ENST00000295463.3 + 9 1187 c.1110G>A c.(1108-1110)ctG>ctA p.L370L NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 370 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) AGGACACGCTGACCCTCGTCA 0.617000 9 29 0 0 0.004482 0 0 PRPF19 27339 broad.mit.edu 37 11 60666723 60666723 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:60666723G>A ENST00000227524.4 - 11 1087 c.882C>T c.(880-882)ccC>ccT p.P294P NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 294 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 AAGAGGCATTGGGGACCGACC 0.517000 OREG0020994 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 47 0 0 0.008291 0 0 ACO2 50 broad.mit.edu 37 22 41913580 41913580 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:41913580C>T ENST00000396512.3 + 7 977 c.960C>T c.(958-960)tcC>tcT p.S320S ACO2_ENST00000466237.1_3'UTR|ACO2_ENST00000216254.4_Silent_p.S295S Q99798 ACON_HUMAN aconitase 2, mitochondrial 295 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CCACCACTTCCGTGTTCCCTT 0.622000 OREG0026588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 47 0 0 0.009096 0 0 BTBD10 84280 broad.mit.edu 37 11 13443224 13443224 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:13443224C>T ENST00000278174.5 - 3 508 c.263G>A c.(262-264)aGa>aAa p.R88K BTBD10_ENST00000528120.1_Missense_Mutation_p.R40K|BTBD10_ENST00000530907.1_Missense_Mutation_p.R96K|BTBD10_ENST00000532261.1_5'UTR NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 88 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) AGTCACATTTCTAATACAAGG 0.398000 6 24 0 0 0.001984 0 0 IRX2 153572 broad.mit.edu 37 5 2749827 2749827 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:2749827G>A ENST00000382611.6 - 2 572 c.324C>T c.(322-324)taC>taT p.Y108Y IRX2_ENST00000302057.5_Silent_p.Y108Y|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 108 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GCTGGTACGGGTAGGCCGCGC 0.672000 16 72 0 0 0.004007 0 0 DAK 26007 broad.mit.edu 37 11 61110123 61110123 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:61110123G>A ENST00000394900.3 + 9 997 c.768G>A c.(766-768)gtG>gtA p.V256V NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 256 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 ATGTGCCTGTGCAGCCCGGTG 0.607000 21 51 0 0 0.010504 0 0 AGPAT4 56895 broad.mit.edu 37 6 161567608 161567608 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:161567608G>C ENST00000320285.4 - 7 1003 c.791C>G c.(790-792)cCt>cGt p.P264R AGPAT4_ENST00000457520.2_Missense_Mutation_p.P102R|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 264 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) ATCGTCTTCAGGGATGTCTTC 0.587000 9 57 0 0 0.006214 0 0 DLGAP2 9228 broad.mit.edu 37 8 1513916 1513916 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:1513916T>C ENST00000421627.2 + 3 1192 c.1058T>C c.(1057-1059)aTg>aCg p.M353T RP11-666I19.2_ENST00000518063.1_RNA NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 432 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGCAGGAGAATGAGAAGTGGG 0.557000 4 35 0 0 0.000602 0 0 UPP2 151531 broad.mit.edu 37 2 158974356 158974356 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:158974356C>A ENST00000605860.1 + 7 577 c.531C>A c.(529-531)tcC>tcA p.S177S UPP2_ENST00000005756.4_Silent_p.S120S|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Silent_p.S177S O95045 UPP2_HUMAN uridine phosphorylase 2 120 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 GCATCCCCTCCATTTCTATTA 0.418000 24 75 1.64293e-13 2.10058e-13 0.003330 1 0 FAM127C 441518 broad.mit.edu 37 X 134156260 134156260 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:134156260A>T ENST00000391440.1 - 1 299 c.230T>A c.(229-231)cTg>cAg p.L77Q NM_001078173.1 NP_001071641.1 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 77 breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6 Acute lymphoblastic leukemia(192;0.000127) CACCCACTGCAGGGCGGGCCC 0.602000 25 78 0 0 0.003954 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 26 0 0 0.000602 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478104 42478104 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:42478104C>A ENST00000434000.1 - 9 1389 c.1107G>T c.(1105-1107)aaG>aaT p.K369N GPATCH8_ENST00000591680.1_Missense_Mutation_p.K447N Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 447 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TTGCTGCCGCCTTGATGCAGC 0.498000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 130 9.98788e-38 1.48364e-37 0.014410 1 0 GPR20 2843 broad.mit.edu 37 8 142367614 142367614 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:142367614G>A ENST00000377741.3 - 2 500 c.410C>T c.(409-411)tCc>tTc p.S137F NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 137 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) GAAGAGGATGGAGCAGTGCAT 0.682000 17 47 0 0 0.004007 0 0 POLR3B 55703 broad.mit.edu 37 12 106786859 106786859 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:106786859G>T ENST00000228347.4 + 10 996 c.774G>T c.(772-774)gaG>gaT p.E258D POLR3B_ENST00000539066.1_Missense_Mutation_p.E200D NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 258 E -> A (in Ref. 1; AAM18214). innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTGGAACAGAGGAGCACGTGA 0.463000 26 62 6.32553e-13 8.02049e-13 0.004656 1 0 ZNF98 148198 broad.mit.edu 37 19 22575653 22575653 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:22575653G>T ENST00000357774.5 - 4 505 c.384C>A c.(382-384)agC>agA p.S128R NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) ACTCATCCATGCTTTTACAGT 0.323000 5 18 3.59834e-05 3.99912e-05 0.001168 1 0 FAM65B 9750 broad.mit.edu 37 6 24850828 24850828 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:24850828G>C ENST00000259698.4 - 10 970 c.795C>G c.(793-795)atC>atG p.I265M FAM65B_ENST00000540914.1_Missense_Mutation_p.I265M|FAM65B_ENST00000510784.2_Missense_Mutation_p.I299M|FAM65B_ENST00000538035.1_Missense_Mutation_p.I294M|FAM65B_ENST00000378023.4_Missense_Mutation_p.I265M NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 265 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 ACTGTACCTTGATGGAGATGA 0.512000 15 40 0 0 0.002450 0 0 MUC17 140453 broad.mit.edu 37 7 100686595 100686595 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:100686595A>G ENST00000306151.4 + 3 11962 c.11898A>G c.(11896-11898)atA>atG p.I3966M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3966 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCCCTGTGATAACTTCCACTG 0.453000 5 128 0 0 0.001168 0 0 TRIO 7204 broad.mit.edu 37 5 14291337 14291337 + Splice_Site SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:14291337G>T ENST00000344204.4 + 5 1077 c.1053_splice c.e5+1 p.K351_splice TRIO_ENST00000509967.2_Splice_Site_p.K302_splice|TRIO_ENST00000537187.1_Splice_Site_p.K351_splice NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 351 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ATGCTGAGAAGGTAAAGACGG 0.557000 15 44 3.35478e-16 4.50246e-16 0.003163 1 0 CYYR1 116159 broad.mit.edu 37 21 27852738 27852738 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr21:27852738T>A ENST00000299340.4 - 3 530 c.187A>T c.(187-189)Att>Ttt p.I63F AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.I63F NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 63 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 ATGCCCGCAATTGCAGTGCCC 0.423000 7 48 0 0 0.001984 0 0 ITGB3 3690 broad.mit.edu 37 17 45376752 45376752 + Nonsense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:45376752C>G ENST00000560629.1 + 11 1734 c.1734C>G c.(1732-1734)taC>taG p.Y578* ITGB3_ENST00000435993.2_Missense_Mutation_p.T543S|ITGB3_ENST00000559488.1_Missense_Mutation_p.T590S P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) ACCACGCGTACTGACACCTGC 0.607000 46 80 0 0 0.014410 0 0 FLNC 2318 broad.mit.edu 37 7 128494176 128494176 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:128494176C>G ENST00000325888.8 + 40 6894 c.6633C>G c.(6631-6633)acC>acG p.T2211T RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.T2178T NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2211 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AGGAGTCCACCCAGGTCGGCG 0.692000 14 16 0 0 0.002450 0 0 RYR2 6262 broad.mit.edu 37 1 237774159 237774159 + Missense_Mutation SNP T T G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:237774159T>G ENST00000366574.2 + 36 5098 c.4781T>G c.(4780-4782)gTc>gGc p.V1594G RYR2_ENST00000360064.6_Missense_Mutation_p.V1592G|RYR2_ENST00000542537.1_Missense_Mutation_p.V1578G NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1594 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGTCACACGTCCTGTGGAGC 0.547000 4 19 0 0 0.000602 0 0 CWC27 10283 broad.mit.edu 37 5 64314067 64314067 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:64314067C>A ENST00000381070.3 + 14 1555 c.1338C>A c.(1336-1338)atC>atA p.I446I CWC27_ENST00000545000.1_3'UTR NM_005869.2 NP_005860.2 Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 446 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 CATTTGAAATCTATGATCCTC 0.358000 13 52 0.000219431 0.000237545 0.002450 1 0 PRUNE2 158471 broad.mit.edu 37 9 79322624 79322624 + Silent SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:79322624A>T ENST00000428286.1 - 8 4689 c.3489T>A c.(3487-3489)ctT>ctA p.L1163L PRUNE2_ENST00000376718.3_Silent_p.L1522L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1522 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CGGCTCCTGGAAGGCTATTTT 0.418000 16 14 0 0 0.003163 0 0 SDR9C7 121214 broad.mit.edu 37 12 57327928 57327928 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:57327928G>T ENST00000293502.1 - 1 261 c.118C>A c.(118-120)Ctg>Atg p.L40M NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 40 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 TTGGCCAGCAGGTTCCCGAAG 0.537000 9 18 1.76689e-08 2.09022e-08 0.006214 1 0 FGD6 55785 broad.mit.edu 37 12 95603981 95603981 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:95603981T>A ENST00000343958.4 - 2 1302 c.1079A>T c.(1078-1080)aAa>aTa p.K360I FGD6_ENST00000549499.1_Missense_Mutation_p.K360I|FGD6_ENST00000546711.1_Missense_Mutation_p.K360I NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 360 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 AACACTGATTTTATTGATTTT 0.373000 18 45 0 0 0.004990 0 0 MYOM1 8736 broad.mit.edu 37 18 3067287 3067287 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr18:3067287G>T ENST00000400569.3 - 38 5364 c.5031C>A c.(5029-5031)tcC>tcA p.S1677S MYOM1_ENST00000261606.7_Silent_p.S1581S|MYOM1_ENST00000356443.4_Silent_p.S1677S P52179 MYOM1_HUMAN myomesin 1 1677 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACCTTTCAGGGACTCCAAGG 0.587000 14 12 9.31168e-06 1.04756e-05 0.001855 1 0 F2RL2 2151 broad.mit.edu 37 5 75913421 75913421 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:75913421A>T ENST00000296641.4 - 2 1314 c.1111T>A c.(1111-1113)Tac>Aac p.Y371N F2RL2_ENST00000504899.1_Missense_Mutation_p.Y349N|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 371 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) TTTGTAAGGTAAGCAGTGGAG 0.368000 5 25 0 0 0.000602 0 0 ESX1 80712 broad.mit.edu 37 X 103499225 103499225 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:103499225C>A ENST00000372588.4 - 2 199 c.116G>T c.(115-117)aGg>aTg p.R39M NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 39 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 CTCTCCTCCCCTTGCCATCAG 0.592000 43 151 2.95478e-19 4.18593e-19 0.008740 1 0 ZNF716 441234 broad.mit.edu 37 7 57528740 57528740 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:57528740C>T ENST00000420713.1 + 4 685 c.573C>T c.(571-573)ggC>ggT p.G191G NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 AAAACGATGGCAAATCATTTT 0.338000 10 10 0 0 0.006214 0 0 PHF1 5252 broad.mit.edu 37 6 33383646 33383646 + Nonsense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:33383646C>T ENST00000374512.3 + 14 1640 c.1369C>T c.(1369-1371)Cga>Tga p.R457* PHF1_ENST00000374516.3_Missense_Mutation_p.S492L NM_002636.4 NP_002627.1 O43189 PHF1_HUMAN PHD finger protein 1 0 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) GCCCCCCACTCGATGACTGCC 0.537000 66 87 0 0 0.014410 0 0 UGDH 7358 broad.mit.edu 37 4 39515741 39515741 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:39515741C>T ENST00000316423.6 - 3 568 c.226G>A c.(226-228)Gat>Aat p.D76N UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Missense_Mutation_p.D76N|UGDH_ENST00000501493.2_Missense_Mutation_p.D76N|UGDH_ENST00000515398.1_5'UTR NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 76 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) ATGGCATCATCAATATTGGTA 0.289000 13 53 0 0 0.002450 0 0 ZNF256 10172 broad.mit.edu 37 19 58453016 58453016 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:58453016G>T ENST00000282308.3 - 3 1356 c.1160C>A c.(1159-1161)tCc>tAc p.S387Y ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 387 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 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;0.0155) CTGGCTAAAGGATTTCCCACA 0.413000 8 38 0.00307968 0.00327216 0.003080 1 0 RAB9B 51209 broad.mit.edu 37 X 103080378 103080378 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:103080378C>T ENST00000243298.2 - 3 621 c.337G>A c.(337-339)Gac>Aac p.D113N NM_016370.2 NP_057454.1 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family 113 Golgi to endosome transport|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(11) 14 TGCTCAGGGTCCTTCACATCC 0.483000 41 147 0 0 0.007835 0 0 SLC6A17 388662 broad.mit.edu 37 1 110714814 110714814 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:110714814G>T ENST00000331565.4 + 3 904 c.419G>T c.(418-420)gGg>gTg p.G140V RP5-1028L10.1_ENST00000443008.1_RNA NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 140 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CCCCGCCTGGGGGGCATCGGC 0.632000 6 10 3.59834e-05 3.99912e-05 0.001168 1 0 RAB35 11021 broad.mit.edu 37 12 120546238 120546238 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:120546238G>A ENST00000229340.5 - 2 274 c.86C>T c.(85-87)gCa>gTa p.A29V RAB35_ENST00000534951.1_Missense_Mutation_p.A29V NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 29 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) AGTGTTGTCTGCAAAACGCAA 0.572000 3 27 0 0 0.009096 0 0 DLGAP2 9228 broad.mit.edu 37 8 1645345 1645345 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:1645345G>A ENST00000421627.2 + 11 2723 c.2589G>A c.(2587-2589)caG>caA p.Q863Q NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 942 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CGACGTCGCAGGACCTGGCCG 0.647000 10 47 0 0 0.006214 0 0 TAAR6 319100 broad.mit.edu 37 6 132891745 132891745 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:132891745G>T ENST00000275198.1 + 1 285 c.285G>T c.(283-285)gaG>gaT p.E95D NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 95 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) GGACGGTGGAGAGCTGCTGGT 0.502000 32 93 1.74807e-11 2.18034e-11 0.010818 1 0 UNC5D 137970 broad.mit.edu 37 8 35624523 35624523 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:35624523T>A ENST00000287272.2 + 14 2230 c.2210T>A c.(2209-2211)aTc>aAc p.I737N UNC5D_ENST00000420357.1_Missense_Mutation_p.I739N|UNC5D_ENST00000404895.2_Missense_Mutation_p.I806N|UNC5D_ENST00000453357.2_Missense_Mutation_p.I801N|UNC5D_ENST00000449677.1_Missense_Mutation_p.I382N|UNC5D_ENST00000416672.1_Missense_Mutation_p.I811N Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 806 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCCTGCAAAATCTGCATTCGG 0.557000 5 59 0 0 0.000602 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188422 37188422 + RNA SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:37188422C>G ENST00000425901.2 + 0 2264 NR_033753.2 AGACCAGGTTCAGACTCAGCA 0.493000 25 118 0 0 0.003954 0 0 DYTN 391475 broad.mit.edu 37 2 207564891 207564891 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:207564891G>A ENST00000452335.2 - 6 649 c.533C>T c.(532-534)gCc>gTc p.A178V DYTN_ENST00000477734.1_5'UTR NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 178 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GCTGCGGGTGGCACTTTCCAC 0.498000 6 50 0 0 0.001984 0 0 GRTP1 79774 broad.mit.edu 37 13 113979886 113979886 + Silent SNP T T G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr13:113979886T>G ENST00000375430.4 - 7 1057 c.1011A>C c.(1009-1011)gcA>gcC p.A337A GRTP1_ENST00000375431.4_Intron|GRTP1_ENST00000326039.3_Silent_p.A259A Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 0 intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GCCCGTCCTGTGCACCCTCCG 0.687000 5 15 0 0 0.000602 0 0 NPNT 255743 broad.mit.edu 37 4 106858224 106858224 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:106858224C>A ENST00000379987.2 + 4 540 c.324C>A c.(322-324)taC>taA p.Y108* NPNT_ENST00000506666.1_Nonsense_Mutation_p.Y138*|NPNT_ENST00000453617.2_Nonsense_Mutation_p.Y125*|NPNT_ENST00000427316.2_Nonsense_Mutation_p.Y138*|NPNT_ENST00000514622.1_Nonsense_Mutation_p.Y108*|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000305572.8_Nonsense_Mutation_p.Y108* NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 108 EGF-like 2; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TGAACACTTACGGCAGCTACA 0.448000 23 13 9.57634e-11 1.18478e-10 0.003330 1 0 ZMAT1 84460 broad.mit.edu 37 X 101139699 101139699 + Nonsense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:101139699T>A ENST00000372782.3 - 7 747 c.700A>T c.(700-702)Aga>Tga p.R234* ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Nonsense_Mutation_p.R234*|ZMAT1_ENST00000458570.1_Nonsense_Mutation_p.R63* NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 63 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TCTAGTCCTCTGGCTTTCTGC 0.408000 27 67 0 0 0.005443 0 0 KCNH6 81033 broad.mit.edu 37 17 61611628 61611628 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:61611628G>A ENST00000583023.1 + 5 1068 c.1057G>A c.(1057-1059)Gcc>Acc p.A353T KCNH6_ENST00000456941.2_Missense_Mutation_p.A353T|KCNH6_ENST00000580652.1_Missense_Mutation_p.A353T|KCNH6_ENST00000314672.5_Missense_Mutation_p.A353T|KCNH6_ENST00000581784.1_Missense_Mutation_p.A353T NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 353 regulation of transcription, DNA-dependent|signal transduction p.A353T(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CATGGTGGCCGCCATCCCTTT 0.622000 19 88 0 0 0.006122 0 0 DHX40 79665 broad.mit.edu 37 17 57647936 57647936 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:57647936C>T ENST00000451169.2 + 3 400 c.41C>T c.(40-42)tCa>tTa p.S14L DHX40_ENST00000425628.3_Intron|DHX40_ENST00000251241.4_Missense_Mutation_p.S113L Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 113 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GCTGCTATATCAGTTGCTCAG 0.373000 25 84 0 0 0.003954 0 0 SMAD5 4090 broad.mit.edu 37 5 135489586 135489586 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:135489586A>G ENST00000545279.1 + 3 497 c.137A>G c.(136-138)aAg>aGg p.K46R SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.K46R NM_001001419.1|NM_005903.5 NP_001001419.1|NP_005894.3 Q99717 SMAD5_HUMAN SMAD family member 5 46 MH1.|Poly-Lys. BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding central_nervous_system(1)|large_intestine(4)|lung(3) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAAAAGAAAAAGGGTGCCATG 0.473000 3 48 0 0 0.004672 0 0 LGALS14 56891 broad.mit.edu 37 19 40199884 40199884 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:40199884G>T ENST00000392052.3 + 4 574 c.351G>T c.(349-351)ccG>ccT p.P117P LGALS14_ENST00000360675.3_Silent_p.P146P NM_020129.2 NP_064514.1 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 117 Galectin. nucleus sugar binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2) 14 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) ATCGATTCCCGCCAGCATCTG 0.458000 11 37 3.07112e-06 3.50657e-06 0.010729 1 0 KCNA6 3742 broad.mit.edu 37 12 4920657 4920657 + Nonsense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:4920657C>T ENST00000433855.1 + 1 2316 c.1450C>T c.(1450-1452)Cag>Tag p.Q484* KCNA6_ENST00000280684.3_Nonsense_Mutation_p.Q484* NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 484 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CACTTGTGGGCAGCCTGCGCC 0.607000 HNSCC(72;0.22) 14 33 0 0 0.002450 0 0 C11orf30 56946 broad.mit.edu 37 11 76227220 76227220 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:76227220C>G ENST00000529032.1 + 10 1548 c.1548C>G c.(1546-1548)agC>agG p.S516R C11orf30_ENST00000343878.3_Missense_Mutation_p.S516R|C11orf30_ENST00000525038.1_Missense_Mutation_p.S531R|C11orf30_ENST00000533248.1_Missense_Mutation_p.S530R|C11orf30_ENST00000334736.3_Missense_Mutation_p.S516R|C11orf30_ENST00000524767.1_Missense_Mutation_p.S531R|C11orf30_ENST00000525919.1_Missense_Mutation_p.S517R|C11orf30_ENST00000524490.1_Missense_Mutation_p.S432R Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 516 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CAACAGTGAGCCCATCCATTG 0.443000 14 90 0 0 0.003163 0 0 IGF2R 3482 broad.mit.edu 37 6 160430048 160430048 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:160430048C>G ENST00000356956.1 + 3 444 c.296C>G c.(295-297)tCt>tGt p.S99C NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 99 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ATAGGTGACTCTGTTTTGAGA 0.403000 20 53 0 0 0.010504 0 0 DEPDC5 9681 broad.mit.edu 37 22 32188070 32188070 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:32188070T>A ENST00000400246.1 + 11 818 c.676T>A c.(676-678)Tat>Aat p.Y226N DEPDC5_ENST00000382105.2_Missense_Mutation_p.Y226N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.Y226N|DEPDC5_ENST00000382112.3_Missense_Mutation_p.Y226N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.Y226N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.Y226N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.Y226N|DEPDC5_ENST00000536766.1_Missense_Mutation_p.Y198N|DEPDC5_ENST00000400248.1_Missense_Mutation_p.Y226N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.Y226N O75140 DEPD5_HUMAN DEP domain containing 5 226 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TAGAACTTTCTATGATGCAAA 0.388000 16 17 0 0 0.004007 0 0 HOXA1 3198 broad.mit.edu 37 7 27134078 27134078 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:27134078G>C ENST00000343060.4 - 2 1050 c.989C>G c.(988-990)aCt>aGt p.T330S HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 330 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGTAGTCAGAGTGTCTGAGGT 0.597000 7 60 0 0 0.003080 0 0 CHRNA4 1137 broad.mit.edu 37 20 61982135 61982135 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:61982135C>A ENST00000370263.4 - 5 849 c.628G>T c.(628-630)Gtc>Ttc p.V210F CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 210 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCCACGATGACCCACTCGCCA 0.597000 21 44 1.28384e-07 1.50712e-07 0.012319 1 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100453175 100453175 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:100453175A>C ENST00000279907.7 - 14 2092 c.1880T>G c.(1879-1881)tTt>tGt p.F627C UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.F277C NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 627 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 AAAGTCTTGAAACAAAGCTTC 0.358000 5 25 0 0 0.001168 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190856 39190856 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:39190856G>A ENST00000344363.5 - 1 251 c.218C>T c.(217-219)cCa>cTa p.P73L NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 83 Missing (in allele KAP1.9). extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGCAGCTTGGCTGGCAGCA 0.607000 30 47 0 0 0.007291 0 0 STK11IP 114790 broad.mit.edu 37 2 220478566 220478566 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:220478566G>C ENST00000456909.1 + 21 2720 c.2630G>C c.(2629-2631)cGg>cCg p.R877P STK11IP_ENST00000295641.10_Missense_Mutation_p.R888P Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 888 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGAGCCTGCGGCTAGAGTGG 0.667000 11 44 0 0 0.008291 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735495 55735495 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:55735495C>G ENST00000312345.2 - 1 495 c.445G>C c.(445-447)Ggg>Cgg p.G149R NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) CATGTTTCCCCAATTACTACA 0.408000 13 34 0 0 0.013537 0 0 LONRF3 79836 broad.mit.edu 37 X 118123528 118123528 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:118123528C>T ENST00000365713.2 + 3 1257 c.1094C>T c.(1093-1095)cCa>cTa p.P365L LONRF3_ENST00000422289.2_Missense_Mutation_p.P150L|LONRF3_ENST00000304778.7_Missense_Mutation_p.P365L|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.P406L Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 406 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 GCTACCTCTCCAAAAGCTGCT 0.498000 8 30 0 0 0.004482 0 0 CDK5R1 8851 broad.mit.edu 37 17 30815150 30815150 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:30815150C>G ENST00000313401.3 + 2 1201 c.512C>G c.(511-513)cCc>cGc p.P171R NM_003885.2 NP_003876.1 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 (p35) 171 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) CACCTGTCCCCCACGGACCCC 0.672000 7 75 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179467165 179467165 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:179467165C>G ENST00000589042.1 - 283 55188 c.54964G>C c.(54964-54966)Gta>Cta p.V18322L TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16681L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15754L|TTN_ENST00000342175.6_Missense_Mutation_p.V9449L|TTN_ENST00000359218.5_Missense_Mutation_p.V9382L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9257L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16681 Fibronectin type-III 32. 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) GGTTCATTTACTCTTTTCCAG 0.423000 10 29 0 0 0.008291 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814840 106814840 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:106814840A>T ENST00000407775.2 + 8 2780 c.2530A>T c.(2530-2532)Acc>Tcc p.T844S RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T575S|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T712S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T712S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 844 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGAGCGGACGACCACGTCTCC 0.458000 5 15 0 0 0.000602 0 0 FAM47C 442444 broad.mit.edu 37 X 37027388 37027388 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:37027388G>A ENST00000358047.3 + 1 957 c.905G>A c.(904-906)gGa>gAa p.G302E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 302 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCTGAGACTGGAGTGCCTGAT 0.602000 15 81 0 0 0.003163 0 0 OR13C8 138802 broad.mit.edu 37 9 107332000 107332000 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:107332000C>A ENST00000335040.1 + 1 552 c.552C>A c.(550-552)atC>atA p.I184I NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TTCTGGCTATCTTGAAACTGG 0.383000 16 45 8.60227e-14 1.11538e-13 0.004007 1 0 EIF4E1B 253314 broad.mit.edu 37 5 176072502 176072502 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:176072502G>T ENST00000318682.6 + 8 1183 c.599G>T c.(598-600)gGc>gTc p.G200V EIF4E1B_ENST00000504597.1_Missense_Mutation_p.G200V|EIF4E1B_ENST00000512734.1_3'UTR NM_001099408.1 NP_001092878.1 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E family member 1B 200 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity breast(1)|large_intestine(1)|lung(2)|pancreas(1) 5 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AACCAGGCGGGCGTGCTGCAC 0.627000 12 16 2.27111e-07 2.64579e-07 0.013537 1 0 RANBP6 26953 broad.mit.edu 37 9 6013819 6013819 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:6013819A>C ENST00000259569.5 - 1 1799 c.1789T>G c.(1789-1791)Tca>Gca p.S597A RANBP6_ENST00000485372.1_5'UTR NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 597 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TTTAAGTCTGATTGTGTCTTC 0.368000 8 59 0 0 0.004482 0 0 IRGC 56269 broad.mit.edu 37 19 44224056 44224056 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:44224056A>T ENST00000244314.5 + 2 1545 c.1346A>T c.(1345-1347)aAg>aTg p.K449M NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 449 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CTCCTTCTTAAGTACATTCTG 0.557000 18 30 0 0 0.007413 0 0 ZFP64 55734 broad.mit.edu 37 20 50768964 50768964 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:50768964C>G ENST00000216923.4 - 6 2116 c.1767G>C c.(1765-1767)acG>acC p.T589T ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.T535T|ZFP64_ENST00000371515.4_Silent_p.T587T|ZFP64_ENST00000361387.2_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CACCTGAGGCCGTGGGGATGA 0.597000 24 34 0 0 0.003330 0 0 FBXO41 150726 broad.mit.edu 37 2 73491152 73491152 + Silent SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:73491152G>C ENST00000521871.1 - 7 2251 c.1836C>G c.(1834-1836)acC>acG p.T612T FBXO41_ENST00000295133.5_Silent_p.T673T|FBXO41_ENST00000520530.2_Silent_p.T612T Q8TF61 FBX41_HUMAN F-box protein 41 612 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 AGTGGGCCTGGGTGCACCACT 0.627000 5 4 0 0 0.000602 0 0 LARP1 23367 broad.mit.edu 37 5 154188019 154188019 + Splice_Site SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:154188019A>T ENST00000336314.4 + 16 2492 c.2467_splice c.e16-1 p.E823_splice NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 900 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTCCCATCAGAGCGGAAACGC 0.493000 23 34 0 0 0.014323 0 0 PASD1 139135 broad.mit.edu 37 X 150840242 150840242 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:150840242C>A ENST00000370357.4 + 13 1673 c.1428C>A c.(1426-1428)gcC>gcA p.A476A NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 476 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CTTGTGTTGCCTTCAACCAGG 0.463000 10 45 0.00829132 0.0087287 0.008291 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107423166 107423166 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:107423166G>T ENST00000409382.3 - 6 2168 c.1558C>A c.(1558-1560)Cct>Act p.P520T ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P520T NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 520 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CTTGGTGCAGGGCAGTGCACC 0.507000 30 59 8.4185e-14 1.09464e-13 0.012213 1 0 IQSEC2 23096 broad.mit.edu 37 X 53267475 53267475 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:53267475C>T ENST00000396435.3 - 12 3329 c.3129G>A c.(3127-3129)ggG>ggA p.G1043G IQSEC2_ENST00000375368.5_Silent_p.G1033G|IQSEC2_ENST00000375365.2_Silent_p.G838G NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 1033 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 GCAACTTGATCCCAAACTGGT 0.507000 10 23 0 0 0.010729 0 0 TGIF2 60436 broad.mit.edu 37 20 35219609 35219609 + Silent SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:35219609A>G ENST00000373874.2 + 3 688 c.489A>G c.(487-489)acA>acG p.T163T RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Silent_p.T163T|TGIF2-C20orf24_ENST00000558530.1_Intron NM_001199514.1|NM_001199515.1 NP_001186443.1|NP_001186444.1 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 163 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CTGGTAGCACACTTACTCTGC 0.627000 18 63 0 0 0.004990 0 0 MPP1 4354 broad.mit.edu 37 X 154013434 154013434 + Splice_Site SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:154013434T>C ENST00000413259.3 - 8 980 c.e8-2 MPP1_ENST00000462825.1_Splice_Site|MPP1_ENST00000393531.1_Splice_Site|MPP1_ENST00000369534.3_Splice_Site NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCCACTCGCCTGGTAGGAAAA 0.547000 17 14 0 0 0.004007 0 0 TIMP1 7076 broad.mit.edu 37 X 47444660 47444660 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:47444660C>A ENST00000377018.2 + 3 593 c.29C>A c.(28-30)cCc>cAc p.P10H SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000218388.4_Silent_p.T86T|TIMP1_ENST00000456754.2_Silent_p.T86T|TIMP1_ENST00000377017.1_Silent_p.T22T P01033 TIMP1_HUMAN TIMP metallopeptidase inhibitor 1 0 erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation platelet alpha granule lumen metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(1)|large_intestine(2) 3 TCGTCTACACCCCCGCCATGG 0.562000 5 18 0.00116845 0.00125308 0.001168 1 0 THSD7A 221981 broad.mit.edu 37 7 11676584 11676584 + Silent SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:11676584T>C ENST00000423059.3 - 2 446 c.195A>G c.(193-195)ccA>ccG p.P65P THSD7A_ENST00000480061.1_5'UTR NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 65 TSP type-1 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATCGGCCCCATGGACCTACAA 0.443000 HNSCC(18;0.044) 16 59 0 0 0.003163 0 0 ZNF536 9745 broad.mit.edu 37 19 30935900 30935900 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:30935900C>A ENST00000355537.3 + 2 1578 c.1431C>A c.(1429-1431)gcC>gcA p.A477A NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCAGCATGGCCCACGGCGTCC 0.667000 6 57 8.12818e-05 8.92545e-05 0.001984 1 0 DMD 1756 broad.mit.edu 37 X 31792208 31792208 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:31792208C>G ENST00000357033.4 - 51 7617 c.7411G>C c.(7411-7413)Gct>Cct p.A2471P DMD_ENST00000343523.2_Missense_Mutation_p.A11P|DMD_ENST00000378677.2_Missense_Mutation_p.A2467P|DMD_ENST00000474231.1_Missense_Mutation_p.A11P|DMD_ENST00000378707.3_Missense_Mutation_p.A11P|DMD_ENST00000359836.1_Missense_Mutation_p.A11P|DMD_ENST00000541735.1_Missense_Mutation_p.A11P NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2471 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTGCCAGAGCAGGTACCTCC 0.468000 10 45 0 0 0.006214 0 0 MEGF8 1954 broad.mit.edu 37 19 42853681 42853681 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:42853681G>A ENST00000334370.4 + 13 2763 c.2128G>A c.(2128-2130)Gag>Aag p.E710K MEGF8_ENST00000251268.6_Missense_Mutation_p.E777K NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 777 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GGCTCATCAGGAGAAGGAGAC 0.637000 8 25 0 0 0.003080 0 0 PIGW 284098 broad.mit.edu 37 17 34894229 34894229 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:34894229C>T ENST00000592983.1 + 2 1859 c.1279C>T c.(1279-1281)Cta>Tta p.L427L PIGW_ENST00000328396.2_Silent_p.L427L|MYO19_ENST00000590081.1_Intron Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 427 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTCAGAATCTCTAGTCCCTGA 0.343000 21 46 0 0 0.008871 0 0 NFRKB 4798 broad.mit.edu 37 11 129746708 129746708 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:129746708C>T ENST00000446488.3 - 16 1758 c.1655G>A c.(1654-1656)gGc>gAc p.G552D NFRKB_ENST00000524794.1_Missense_Mutation_p.G577D|NFRKB_ENST00000524746.1_Missense_Mutation_p.G552D|NFRKB_ENST00000304521.5_Missense_Mutation_p.G552D NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 552 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GTCAAACACGCCCTTCACTGG 0.582000 30 40 0 0 0.008361 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201577 140201577 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140201577C>G ENST00000529859.1 + 1 217 c.217C>G c.(217-219)Ctt>Gtt p.L73V PCDHA5_ENST00000378126.3_Missense_Mutation_p.L73V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.L73V|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018908.2 NP_061731.1 p.Q49fs*50(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCGGGGACCTTCTGGAGGT 0.642000 70 100 0 0 0.014410 0 0 EXTL1 2134 broad.mit.edu 37 1 26357001 26357001 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:26357001G>T ENST00000374280.3 + 4 1883 c.1016G>T c.(1015-1017)cGg>cTg p.R339L EXTL1_ENST00000484339.1_3'UTR NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 339 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TCCCCTGCACGGGTCCTCGCC 0.587000 19 65 8.04996e-18 1.11629e-17 0.012319 1 0 CYP11B1 1584 broad.mit.edu 37 8 143956411 143956411 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:143956411G>A ENST00000292427.4 - 8 1392 c.1360C>T c.(1360-1362)Cgc>Tgc p.R454C CYP11B1_ENST00000377675.3_Missense_Mutation_p.R525C|CYP11B1_ENST00000517471.1_Intron NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 454 R -> C (in AH4). aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TCTGCCAGGCGCCGCCCAAGG 0.677000 Familial Hyperaldosteronism type I 14 86 0 0 0.003163 0 0 PIDD 55367 broad.mit.edu 37 11 799896 799896 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:799896C>A ENST00000347755.5 - 15 2534 c.2393G>T c.(2392-2394)cGt>cTt p.R798L PIDD_ENST00000411829.2_Missense_Mutation_p.R781L NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 798 Death. apoptosis|signal transduction cytoplasm|nucleus death receptor binding CAGACCCAGACGCCCAGCCAC 0.692000 3 28 6.4e-05 7.06154e-05 0.004672 1 0 ALDH1L2 160428 broad.mit.edu 37 12 105467760 105467760 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:105467760C>T ENST00000258494.9 - 2 212 c.72G>A c.(70-72)aaG>aaA p.K24K ALDH1L2_ENST00000424857.2_Silent_p.K24K|RP11-61E11.1_ENST00000547750.1_RNA NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 24 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 TTAGTGCCAACTTCAGCTTGT 0.453000 15 55 0 0 0.004007 0 0 FRMD7 90167 broad.mit.edu 37 X 131212132 131212132 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:131212132T>C ENST00000298542.4 - 12 2088 c.1913A>G c.(1912-1914)gAt>gGt p.D638G FRMD7_ENST00000464296.1_Missense_Mutation_p.D623G|FRMD7_ENST00000370879.1_Missense_Mutation_p.D518G NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 638 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TGTACTTTGATCCATTAGAAC 0.413000 22 68 0 0 0.002780 0 0 SYTL4 94121 broad.mit.edu 37 X 99956570 99956570 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:99956570C>A ENST00000372981.1 - 3 396 c.210G>T c.(208-210)ctG>ctT p.L70L SYTL4_ENST00000455616.1_Silent_p.L70L|SYTL4_ENST00000372989.1_Silent_p.L70L|SYTL4_ENST00000454200.2_Silent_p.L70L|SYTL4_ENST00000263033.5_Silent_p.L70L|SYTL4_ENST00000276141.6_Silent_p.L70L Q96C24 SYTL4_HUMAN synaptotagmin-like 4 70 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCAAACGGCCCAGGCTCTCCT 0.547000 28 51 5.61819e-17 7.60693e-17 0.005443 1 0 EIF2AK1 27102 broad.mit.edu 37 7 6094328 6094328 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:6094328A>T ENST00000199389.6 - 2 272 c.126T>A c.(124-126)gaT>gaA p.D42E EIF2AK1_ENST00000536084.1_5'UTR NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 42 negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CTGCTGGAACATCAGATTCTA 0.338000 5 61 0 0 0.001168 0 0 AGTR2 186 broad.mit.edu 37 X 115304569 115304569 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:115304569A>G ENST00000371906.4 + 3 1226 c.1036A>G c.(1036-1038)Agt>Ggt p.S346G NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 346 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 GAAAAGAGAGAGTATGTCTTG 0.428000 22 56 0 0 0.012319 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719169 140719169 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140719169G>C ENST00000394576.2 + 1 631 c.631G>C c.(631-633)Gtt>Ctt p.V211L PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACCACCTCGTTCTCGTGGC 0.587000 35 50 0 0 0.012213 0 0 FSTL5 56884 broad.mit.edu 37 4 162463753 162463753 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:162463753G>T ENST00000306100.5 - 9 1544 c.1108C>A c.(1108-1110)Cct>Act p.P370T FSTL5_ENST00000536695.1_Missense_Mutation_p.P369T|FSTL5_ENST00000379164.4_Missense_Mutation_p.P369T|FSTL5_ENST00000427802.2_Missense_Mutation_p.P369T NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 370 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCAAGCTGAGGCTTTGGTATG 0.458000 17 17 1.37285e-15 1.83714e-15 0.004007 1 0 DNAI2 64446 broad.mit.edu 37 17 72278023 72278023 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:72278023C>A ENST00000579490.1 + 1 373 c.238C>A c.(238-240)Cgc>Agc p.R80S DNAI2_ENST00000582036.1_Missense_Mutation_p.R23S|DNAI2_ENST00000446837.2_Missense_Mutation_p.R23S|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000311014.6_Missense_Mutation_p.R23S Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 23 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TTTCTCGGACCGCCAGGCCGA 0.617000 Kartagener syndrome 49 62 4.18559e-23 6.0797e-23 0.014410 1 0 ADNP2 22850 broad.mit.edu 37 18 77894189 77894189 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr18:77894189A>G ENST00000262198.4 + 4 1348 c.893A>G c.(892-894)cAg>cGg p.Q298R NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 298 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GCTTTGCCACAGAACAGTCCA 0.602000 19 44 0 0 0.010504 0 0 XIST 7503 broad.mit.edu 37 X 73070996 73070996 + RNA SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:73070996A>T ENST00000429829.1 - 0 1592 NR_001564.2 AGCACTGTCCATCCCACCTTT 0.507000 56 161 0 0 0.014410 0 0 ZNF99 7652 broad.mit.edu 37 19 22941422 22941422 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:22941422C>T ENST00000397104.3 - 5 1015 c.1016G>A c.(1015-1017)tGt>tAt p.C339Y ZNF99_ENST00000596209.1_Missense_Mutation_p.C430Y zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGCTTTGCCACATTCTTCACA 0.368000 12 25 0 0 0.010729 0 0 EIF4E1B 253314 broad.mit.edu 37 5 176070182 176070182 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:176070182C>A ENST00000318682.6 + 4 699 c.115C>A c.(115-117)Ccc>Acc p.P39T EIF4E1B_ENST00000504597.1_Missense_Mutation_p.P39T NM_001099408.1 NP_001092878.1 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E family member 1B 39 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity breast(1)|large_intestine(1)|lung(2)|pancreas(1) 5 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCAAACTCTCCCAGGACTTT 0.612000 14 37 0.000219431 0.000237545 0.002450 1 0 DEPDC5 9681 broad.mit.edu 37 22 32239157 32239157 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:32239157G>T ENST00000400246.1 + 28 2734 c.2592G>T c.(2590-2592)acG>acT p.T864T DEPDC5_ENST00000382105.2_Silent_p.T786T|DEPDC5_ENST00000382111.2_Silent_p.T864T|DEPDC5_ENST00000382112.3_Silent_p.T855T|DEPDC5_ENST00000266091.3_Silent_p.T864T|DEPDC5_ENST00000535622.1_Silent_p.T786T|DEPDC5_ENST00000400248.1_Silent_p.T855T|DEPDC5_ENST00000400249.2_Silent_p.T855T O75140 DEPD5_HUMAN DEP domain containing 5 855 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACAAAGTGACGCTGAAGGATA 0.433000 17 26 3.41278e-10 4.19964e-10 0.004990 1 0 TP53 7157 broad.mit.edu 37 17 7577573 7577573 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:7577573G>T ENST00000420246.2 - 7 840 c.708C>A c.(706-708)taC>taA p.Y236* TP53_ENST00000269305.4_Nonsense_Mutation_p.Y236*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y236*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y236*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y236*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y236* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 236 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y236*(12)|p.0?(8)|p.?(5)|p.Y236del(4)|p.Y236Y(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.N235_Y236delNY(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y143*(1)|p.I232_Y236delIHYNY(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGTTACACATGTAGTTGTAGT 0.577000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 14 2.94398e-08 3.46484e-08 0.007413 1 0 GLRA3 8001 broad.mit.edu 37 4 175565175 175565175 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:175565175T>A ENST00000274093.3 - 10 1659 c.1157A>T c.(1156-1158)tAt>tTt p.Y386F GLRA3_ENST00000340217.5_Missense_Mutation_p.Y371F NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 386 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TCCCATTCCATAGGCTGTGAA 0.453000 15 39 0 0 0.002450 0 0 FAM60A 58516 broad.mit.edu 37 12 31440662 31440662 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:31440662T>C ENST00000337682.4 - 5 780 c.412A>G c.(412-414)Agt>Ggt p.S138G FAM60A_ENST00000454658.2_Missense_Mutation_p.S138G|FAM60A_ENST00000539409.1_5'UTR|FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 138 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) GACTGGTTACTGTAACAAGGA 0.378000 10 8 0 0 0.008291 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485158 31485158 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:31485158C>A ENST00000394863.3 + 4 315 c.185C>A c.(184-186)aCg>aAg p.T62K TGFB1I1_ENST00000361773.3_Missense_Mutation_p.T45K|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.T45K|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.T45K NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 62 Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 CTTCCCAGCACGGTATGCAAG 0.647000 16 84 0.000422831 0.000455586 0.004007 1 0 F13B 2165 broad.mit.edu 37 1 197021789 197021789 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:197021789C>T ENST00000367412.1 - 9 1573 c.1530G>A c.(1528-1530)gtG>gtA p.V510V NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 510 Sushi 8. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 AAGGATATTTCACTTCTCCTC 0.323000 5 44 0 0 0.000602 0 0 IL10RA 3587 broad.mit.edu 37 11 117869812 117869812 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:117869812A>T ENST00000227752.3 + 7 1313 c.1193A>T c.(1192-1194)cAg>cTg p.Q398L IL10RA_ENST00000545409.1_Missense_Mutation_p.Q249L|IL10RA_ENST00000541785.1_Missense_Mutation_p.Q378L|IL10RA_ENST00000533700.1_3'UTR NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 398 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) AGCAGGGGCCAGGATGACAGT 0.647000 19 23 0 0 0.010504 0 0 OR2T2 401992 broad.mit.edu 37 1 248616271 248616271 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:248616271C>A ENST00000342927.3 + 1 195 c.173C>A c.(172-174)aCa>aAa p.T58K NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T58K(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGCCTCCACACACCCATGTAC 0.512000 26 128 2.95478e-19 4.18593e-19 0.008740 1 0 THRA 7067 broad.mit.edu 37 17 38244647 38244647 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:38244647G>T ENST00000450525.2 + 8 1367 c.876G>T c.(874-876)ctG>ctT p.L292L THRA_ENST00000394121.4_Silent_p.L292L|THRA_ENST00000546243.1_Silent_p.L292L|THRA_ENST00000264637.4_Silent_p.L292L|THRA_ENST00000584985.1_Silent_p.L292L NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 292 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) ATGGCGGCCTGGGCGTAGTCT 0.607000 28 72 9.39395e-14 1.21119e-13 0.006320 1 0 N4BP2 55728 broad.mit.edu 37 4 40104480 40104480 + Nonsense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:40104480A>T ENST00000261435.6 + 4 1431 c.1015A>T c.(1015-1017)Aag>Tag p.K339* NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 339 Pro-rich. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 AACTAAGGGGAAGGATGTGAG 0.512000 34 36 0 0 0.003271 0 0 IFI16 3428 broad.mit.edu 37 1 158986358 158986358 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158986358C>A ENST00000295809.7 + 4 672 c.417C>A c.(415-417)ccC>ccA p.P139P IFI16_ENST00000368131.4_Silent_p.P139P|IFI16_ENST00000368132.3_Silent_p.P139P|IFI16_ENST00000359709.3_Intron|IFI16_ENST00000340979.6_Silent_p.P139P|IFI16_ENST00000448393.2_Silent_p.P139P|IFI16_ENST00000430894.2_Intron Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 139 Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) AGGCTGGACCCAAAGGGAGTA 0.478000 18 27 6.94344e-10 8.45369e-10 0.006122 1 0 FBLN2 2199 broad.mit.edu 37 3 13670462 13670462 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:13670462A>G ENST00000404922.3 + 12 2746 c.2627A>G c.(2626-2628)aAc>aGc p.N876S FBLN2_ENST00000492059.1_Missense_Mutation_p.N876S|FBLN2_ENST00000535798.1_Missense_Mutation_p.N855S|FBLN2_ENST00000295760.7_Missense_Mutation_p.N829S NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 877 EGF-like 6; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AGCTGCATCAACACGGTGGGC 0.632000 4 9 0 0 0.009096 0 0 PTGS1 5742 broad.mit.edu 37 9 125154703 125154703 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:125154703G>T ENST00000362012.2 + 11 1685 c.1680G>T c.(1678-1680)acG>acT p.T560T PTGS1_ENST00000223423.4_Silent_p.T523T|PTGS1_ENST00000373698.5_Silent_p.T451T|PTGS1_ENST00000540753.1_Silent_p.T498T NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 560 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane 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 large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) TTGTCAAGACGGCCACACTGA 0.567000 11 56 3.86212e-05 4.2716e-05 0.008291 1 0 NUP153 9972 broad.mit.edu 37 6 17688669 17688669 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:17688669C>T ENST00000262077.2 - 2 291 c.292G>A c.(292-294)Gat>Aat p.D98N NUP153_ENST00000537253.1_Missense_Mutation_p.D98N NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 98 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) ATTCTCCCATCAGTAATATTA 0.413000 25 41 0 0 0.003954 0 0 ZNF581 51545 broad.mit.edu 37 19 56156247 56156247 + Nonsense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:56156247C>T ENST00000587252.1 + 2 583 c.310C>T c.(310-312)Cga>Tga p.R104* ZNF581_ENST00000270451.5_Nonsense_Mutation_p.R104*|ZNF581_ENST00000588537.1_Nonsense_Mutation_p.R104* Q9P0T4 ZN581_HUMAN zinc finger protein 581 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CTACCTTCAGCGACACAGCAT 0.587000 23 71 0 0 0.003330 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85438563 85438563 + Silent SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:85438563A>G ENST00000393217.2 + 4 373 c.312A>G c.(310-312)gaA>gaG p.E104E NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 104 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) CTGAATATGAAGAAAGTTCAG 0.264000 5 12 0 0 0.000602 0 0 TRIO 7204 broad.mit.edu 37 5 14280519 14280519 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:14280519C>G ENST00000344204.4 + 3 345 c.321C>G c.(319-321)ctC>ctG p.L107L TRIO_ENST00000509967.2_Silent_p.L58L|TRIO_ENST00000537187.1_Silent_p.L107L NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 107 CRAL-TRIO. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCAGGAGACTCATTTCCTATC 0.448000 5 57 0 0 0.000602 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394715 233394715 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:233394715C>T ENST00000258229.8 - 5 1127 c.893G>A c.(892-894)cGg>cAg p.R298Q PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 298 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCTTTGTACCCGTTCCCTTAT 0.552000 7 83 0 0 0.001984 0 0 DRD5 1816 broad.mit.edu 37 4 9784944 9784944 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:9784944G>T ENST00000304374.2 + 1 1687 c.1291G>T c.(1291-1293)Gag>Tag p.E431* NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 431 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CGACGAGGAGGAGGGTCCTTT 0.577000 13 42 4.3838e-07 5.09409e-07 0.001855 1 0 BAI3 577 broad.mit.edu 37 6 70071320 70071320 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:70071320G>C ENST00000370598.1 + 29 4976 c.4155G>C c.(4153-4155)aaG>aaC p.K1385N BAI3_ENST00000238918.8_Missense_Mutation_p.K591N|BAI3_ENST00000546190.1_Missense_Mutation_p.K349N NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1385 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CAGCTGTGAAGAATTTCATGG 0.438000 10 74 0 0 0.006214 0 0 CACNA1D 776 broad.mit.edu 37 3 53757478 53757478 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:53757478C>T ENST00000288139.3 + 14 1862 c.1744C>T c.(1744-1746)Ctc>Ttc p.L582F CACNA1D_ENST00000350061.5_Missense_Mutation_p.L562F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L562F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 562 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CAACAAAGTCCTCTTGGCTCT 0.512000 17 31 0 0 0.006122 0 0 CFH 3075 broad.mit.edu 37 1 196712628 196712628 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:196712628G>T ENST00000367429.4 + 20 3420 c.3180G>T c.(3178-3180)gtG>gtT p.V1060V NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1060 Sushi 18. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CTTATATAGTGTCGAGACAGA 0.388000 29 28 3.99451e-17 5.44059e-17 0.009535 1 0 PCDH7 5099 broad.mit.edu 37 4 30724395 30724395 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:30724395G>A ENST00000361762.2 + 1 2359 c.1351G>A c.(1351-1353)Gac>Aac p.D451N PCDH7_ENST00000543491.1_Missense_Mutation_p.D451N NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 451 Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 GTCCGACCGAGACCAAGGCGA 0.652000 3 32 0 0 0.004672 0 0 TOB2 10766 broad.mit.edu 37 22 41833088 41833088 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:41833088C>T ENST00000327492.3 - 2 968 c.262G>A c.(262-264)Gag>Aag p.E88K NM_016272.3 NP_057356.1 Q14106 TOB2_HUMAN transducer of ERBB2, 2 88 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 CTCAGCTCCTCAGGCACATTG 0.592000 16 112 0 0 0.004007 0 0 CACNA1G 8913 broad.mit.edu 37 17 48699156 48699156 + Splice_Site SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:48699156G>C ENST00000354983.4 + 33 6330 c.e33+1 CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507336.1_Splice_Site|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000502264.1_Splice_Site|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000359106.5_Splice_Site|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000352832.5_Intron NM_198396.2 NP_938406.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGAGAGCAATGTACATACACA 0.607000 5 35 0 0 0.000602 0 0 HOXD12 3238 broad.mit.edu 37 2 176965464 176965464 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:176965464G>A ENST00000406506.2 + 2 861 c.789G>A c.(787-789)cgG>cgA p.R263R HOXD12_ENST00000404162.2_3'UTR P35452 HXD12_HUMAN homeobox D12 263 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) TGGTGCTTCGGGAGCAGGCGC 0.592000 4 8 0 0 0.009096 0 0 TBCK 93627 broad.mit.edu 37 4 107016734 107016734 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:107016734C>G ENST00000273980.4 - 26 2923 c.2476G>C c.(2476-2478)Ggg>Cgg p.G826R TBCK_ENST00000394708.2_Missense_Mutation_p.G826R|TBCK_ENST00000432496.2_Missense_Mutation_p.G826R|TBCK_ENST00000394706.3_Missense_Mutation_p.G787R|TBCK_ENST00000361687.4_Missense_Mutation_p.G763R Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 826 Rhodanese. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 GTAAGCTCCCCTTCTGCAGTG 0.463000 23 10 0 0 0.014323 0 0 PXDNL 137902 broad.mit.edu 37 8 52336147 52336147 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:52336147G>C ENST00000356297.4 - 14 1883 c.1783C>G c.(1783-1785)Ctt>Gtt p.L595V PXDNL_ENST00000543296.1_Missense_Mutation_p.L595V NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 595 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GTGACTGTAAGAAACATGTTG 0.453000 10 15 0 0 0.008291 0 0 UBBP4 23666 broad.mit.edu 37 17 21731221 21731221 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:21731221A>T ENST00000584755.1 + 2 920 c.523A>T c.(523-525)Atc>Ttc p.I175F UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 CAGTGACACCATCGAAAATGT 0.547000 9 88 0 0 0.006214 0 0 CMTM5 116173 broad.mit.edu 37 14 23847972 23847972 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:23847972C>T ENST00000339180.4 + 3 590 c.374C>T c.(373-375)cCc>cTc p.P125L CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000359320.3_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000382809.2_Intron Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 125 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GGCTTGACCCCCCCGGGCTGG 0.647000 4 19 0 0 0.009096 0 0 SLC27A5 10998 broad.mit.edu 37 19 59022759 59022759 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:59022759C>G ENST00000263093.2 - 1 673 c.564G>C c.(562-564)ctG>ctC p.L188L SLC27A5_ENST00000601355.1_Intron NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 188 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GCCACATACACAGGGCTGGAA 0.687000 8 7 0 0 0.003080 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 4 30 0 0 0.001168 0 0 CSF1R 1436 broad.mit.edu 37 5 149459794 149459794 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:149459794A>T ENST00000286301.3 - 4 704 c.413T>A c.(412-414)gTc>gAc p.V138D CSF1R_ENST00000543093.1_Missense_Mutation_p.V138D NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 138 Ig-like C2-type 2. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CACCAGCGAGACGCCTGCTTC 0.642000 11 42 0 0 0.013537 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37454056 37454056 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr10:37454056C>A ENST00000374660.1 + 18 1968 c.1869C>A c.(1867-1869)gaC>gaA p.D623E ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D623E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D623E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 679 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AACAAAAGGACTATGAAGAAA 0.294000 12 25 7.03913e-09 8.45801e-09 0.013537 1 0 BLK 640 broad.mit.edu 37 8 11412886 11412886 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:11412886G>C ENST00000259089.4 + 8 1257 c.665G>C c.(664-666)cGc>cCc p.R222P BLK_ENST00000529894.1_Missense_Mutation_p.R151P NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 222 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CCCTGTGTGCGCCCGGCCCCG 0.617000 13 63 0 0 0.001855 0 0 TRBV9 28586 broad.mit.edu 37 7 142239560 142239560 + RNA SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:142239560A>T ENST00000390363.2 - 0 366 ACAGAAATACAAAGCTGAGTC 0.527000 26 58 0 0 0.004656 0 0 LILRB2 10288 broad.mit.edu 37 19 54783278 54783278 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:54783278G>A ENST00000391748.1 - 5 707 c.580C>T c.(580-582)Cac>Tac p.H194Y LILRB2_ENST00000391749.4_Missense_Mutation_p.H194Y|LILRB2_ENST00000314446.5_Missense_Mutation_p.H194Y|LILRB2_ENST00000434421.1_Missense_Mutation_p.H78Y|LILRB2_ENST00000391746.1_Missense_Mutation_p.H194Y NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 194 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TAGCACCTGTGCGACCACCTG 0.582000 30 78 0 0 0.009535 0 0 GBA3 57733 broad.mit.edu 37 4 22749486 22749486 + RNA SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:22749486G>C ENST00000508166.1 + 0 956 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CCATCATCGAGGCTTCCAGAA 0.393000 10 23 0 0 0.006214 0 0 MYH11 4629 broad.mit.edu 37 16 15865511 15865511 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:15865511G>A ENST00000338282.6 - 9 1054 c.948C>T c.(946-948)ccC>ccT p.P316P MYH11_ENST00000576790.1_Silent_p.P316P|MYH11_ENST00000452625.2_Silent_p.P323P|MYH11_ENST00000396324.3_Silent_p.P323P|MYH11_ENST00000300036.5_Silent_p.P316P NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 316 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 actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTGCTGGGATGGGCACAAAGC 0.517000 T CBFB AML 15 41 0 0 0.004007 0 0 UNC5A 90249 broad.mit.edu 37 5 176295796 176295796 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:176295796C>A ENST00000329542.4 + 5 826 c.552C>A c.(550-552)ctC>ctA p.L184L UNC5A_ENST00000261961.3_Silent_p.L144L NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 184 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGAGTGGCTCCGGAACGAGG 0.682000 11 36 9.31168e-06 1.04756e-05 0.001855 1 0 NPR3 4883 broad.mit.edu 37 5 32774833 32774833 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:32774833G>C ENST00000265074.8 + 4 1422 c.1079G>C c.(1078-1080)gGa>gCa p.G360A NPR3_ENST00000415685.2_Missense_Mutation_p.G144A|NPR3_ENST00000415167.2_Missense_Mutation_p.G360A|NPR3_ENST00000434067.2_Missense_Mutation_p.G144A NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 360 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) TTTGTTGAAGGATTCCACGAT 0.438000 21 218 0 0 0.010504 0 0 ZP4 57829 broad.mit.edu 37 1 238050811 238050811 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:238050811T>C ENST00000366570.4 - 5 762 c.604A>G c.(604-606)Aac>Gac p.N202D RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 202 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GAGGTCACGTTCCGAGACACA 0.527000 43 74 0 0 0.014410 0 0 BCKDHB 594 broad.mit.edu 37 6 80816606 80816606 + Splice_Site SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:80816606G>C ENST00000545529.1 + 1 224 c.196_splice c.e1+1 p.G66_splice BCKDHB_ENST00000320393.6_Splice_Site_p.G66_splice|BCKDHB_ENST00000356489.5_Splice_Site_p.G66_splice|BCKDHB_ENST00000369760.4_Splice_Site_p.G66_splice P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 66 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) CCGGGAGTACGGTGAGCCCTG 0.701000 3 5 0 0 0.004672 0 0 RASAL1 8437 broad.mit.edu 37 12 113559399 113559399 + Nonsense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:113559399C>A ENST00000546530.1 - 6 628 c.343G>T c.(343-345)Gaa>Taa p.E115* RASAL1_ENST00000548055.1_Nonsense_Mutation_p.E115*|RASAL1_ENST00000261729.5_Nonsense_Mutation_p.E115*|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Nonsense_Mutation_p.E115* NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 115 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CCCTGCACTTCTGCATCTGGG 0.557000 4 58 0.00909568 0.00946693 0.009096 1 0 PTGIR 5739 broad.mit.edu 37 19 47124810 47124810 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:47124810G>T ENST00000291294.2 - 3 1021 c.888C>A c.(886-888)cgC>cgA p.R296R PTGIR_ENST00000598865.1_Silent_p.R84R|PTGIR_ENST00000597185.1_Silent_p.R25R|PTGIR_ENST00000594275.1_Silent_p.R53R NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 296 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) AGACAGCCTTGCGGAAAAGGA 0.632000 19 29 3.99206e-14 5.22038e-14 0.007413 1 0 GPRASP2 114928 broad.mit.edu 37 X 101970387 101970387 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:101970387G>T ENST00000543253.1 + 5 1509 c.590G>T c.(589-591)gGa>gTa p.G197V GPRASP2_ENST00000535209.1_Missense_Mutation_p.G197V|GPRASP2_ENST00000332262.5_Missense_Mutation_p.G197V NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 CCCTGGTTTGGACCAGGGGAG 0.527000 34 141 4.3181e-19 6.09848e-19 0.013726 1 0 GFPT1 2673 broad.mit.edu 37 2 69565628 69565628 + Nonsense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:69565628T>A ENST00000357308.4 - 14 1451 c.1273A>T c.(1273-1275)Aga>Tga p.R425* GFPT1_ENST00000361060.4_Nonsense_Mutation_p.R407* NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 425 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 GGTGTGTTTCTGTCCAGGAAG 0.398000 6 25 0 0 0.001168 0 0 GRIN2A 2903 broad.mit.edu 37 16 9934621 9934621 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:9934621G>A ENST00000396573.2 - 8 1843 c.1534C>T c.(1534-1536)Ctc>Ttc p.L512F GRIN2A_ENST00000562109.1_Missense_Mutation_p.L512F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L512F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L512F|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L355F|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L512F NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 512 Glutamate binding (By similarity). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGATGGTGAGCGAGCCAACT 0.443000 10 28 0 0 0.008291 0 0 BAZ1A 11177 broad.mit.edu 37 14 35262077 35262077 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:35262077C>T ENST00000360310.1 - 12 1981 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K BAZ1A_ENST00000382422.2_Missense_Mutation_p.E472K|BAZ1A_ENST00000358716.4_Missense_Mutation_p.E472K NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 472 DDT. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AAAAGCAATTCACACAGTGGG 0.383000 7 34 0 0 0.003080 0 0 SOHLH1 402381 broad.mit.edu 37 9 138588558 138588558 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:138588558G>T ENST00000298466.5 - 5 621 c.561C>A c.(559-561)tcC>tcA p.S187S SOHLH1_ENST00000425225.1_Silent_p.S187S NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 187 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CCCACTGCCTGGAGGACGCAA 0.652000 13 23 1.5842e-08 1.89856e-08 0.001855 1 0 GREB1 9687 broad.mit.edu 37 2 11758583 11758583 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:11758583C>G ENST00000381486.2 + 22 3882 c.3582C>G c.(3580-3582)ccC>ccG p.P1194P GREB1_ENST00000234142.5_Silent_p.P1194P|GREB1_ENST00000396123.1_Silent_p.P192P NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1194 Ser-rich. integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGCACAGTCCCGGGCCGACGC 0.716000 4 9 0 0 0.009096 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337384 13337384 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:13337384G>T ENST00000380622.2 - 1 1134 c.670C>A c.(670-672)Caa>Aaa p.Q224K GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 224 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TCCTCATCTTGGTCTGATGTT 0.383000 68 228 4.98926e-31 7.36357e-31 0.014410 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43627428 43627428 + Missense_Mutation SNP G G A rs11261835 by1000genomes TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:43627428G>A ENST00000332857.6 - 4 1287 c.1259C>T c.(1258-1260)cCc>cTc p.P420L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.P420L(1) GTGCAGAGAGGGGAGGCCCCA 0.498000 4 35 0 0 0.009096 0 0 RNF180 285671 broad.mit.edu 37 5 63509437 63509437 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:63509437G>T ENST00000389100.4 + 4 356 c.284G>T c.(283-285)gGg>gTg p.G95V RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.G95V NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 95 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) GCCCGTTTAGGGGGCTTTAAT 0.458000 29 169 2.61193e-14 3.44505e-14 0.009535 1 0 FLG 2312 broad.mit.edu 37 1 152280700 152280700 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:152280700C>A ENST00000368799.1 - 3 6697 c.6662G>T c.(6661-6663)aGa>aTa p.R2221I FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2221 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGTGAGTGTCTAGAGCTGTC 0.547000 Ichthyosis 138 203 3.29933e-67 4.949e-67 0.014410 1 0 DNAH17 8632 broad.mit.edu 37 17 76526495 76526495 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:76526495C>G ENST00000389840.5 - 21 3338 c.3214G>C c.(3214-3216)Gcc>Ccc p.A1072P DNAH17_ENST00000585328.1_Missense_Mutation_p.A1069P dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CTGAGCAGGGCCTGCTTGAAG 0.617000 11 49 0 0 0.008291 0 0 EPHA8 2046 broad.mit.edu 37 1 22927868 22927868 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:22927868G>T ENST00000166244.3 + 16 2877 c.2805G>T c.(2803-2805)gtG>gtT p.V935V NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 935 SAM. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCCTCACCGTGGGGGACTGGC 0.677000 28 59 9.39395e-14 1.21119e-13 0.006320 1 0 SPIN4 139886 broad.mit.edu 37 X 62570542 62570542 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:62570542T>A ENST00000374884.2 - 1 681 c.103A>T c.(103-105)Aac>Tac p.N35Y SPIN4_ENST00000335144.3_Missense_Mutation_p.N53Y|SPIN4-AS1_ENST00000451979.1_RNA Q56A73 SPIN4_HUMAN spindlin family, member 4 53 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 ACTGGCTCGTTGCCTTCCTTC 0.527000 7 23 0 0 0.003080 0 0 TPR 7175 broad.mit.edu 37 1 186344044 186344044 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:186344044C>T ENST00000367478.3 - 1 413 c.117G>A c.(115-117)ctG>ctA p.L39L TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 39 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GCCGCCCCTTCAGGCCATCGA 0.537000 T NTRK1 papillary thyroid 34 39 0 0 0.003755 0 0 KCNH7 90134 broad.mit.edu 37 2 163241415 163241415 + Silent SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:163241415A>G ENST00000332142.5 - 13 2844 c.2745T>C c.(2743-2745)gaT>gaC p.D915D NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 915 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GTCTTATGGTATCTGCAGAGT 0.353000 7 48 0 0 0.001984 0 0 TENM4 26011 broad.mit.edu 37 11 78431415 78431415 + Splice_Site SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:78431415C>T ENST00000278550.7 - 25 4283 c.3821_splice c.e25+1 p.S1274_splice NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GTTGGCTTACCTATGTCTGAA 0.443000 21 58 0 0 0.014323 0 0 SEMA5B 54437 broad.mit.edu 37 3 122631807 122631807 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:122631807C>G ENST00000195173.4 - 18 2908 c.2605G>C c.(2605-2607)Gag>Cag p.E869Q SEMA5B_ENST00000357599.3_Missense_Mutation_p.E870Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.E924Q Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 870 TSP type-1 3. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) AAGCCCAGCTCGCAGTCCCGG 0.726000 9 37 0 0 0.004482 0 0 OR6F1 343169 broad.mit.edu 37 1 247875228 247875228 + Missense_Mutation SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:247875228A>T ENST00000302084.2 - 1 877 c.830T>A c.(829-831)cTg>cAg p.L277Q RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CACAGTGTTCAGGACGTGGAC 0.453000 31 63 0 0 0.008361 0 0 GPX3 2878 broad.mit.edu 37 5 150405018 150405018 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:150405018G>A ENST00000388825.4 + 2 297 c.205G>A c.(205-207)Gtg>Atg p.V69M GPX3_ENST00000521722.1_3'UTR|GPX3_ENST00000517973.1_Intron NM_002084.3 NP_002075.2 P22352 GPX3_HUMAN glutathione peroxidase 3 (plasma) 69 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding kidney(1)|large_intestine(3)|lung(1)|skin(1) 6 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CTTTGTCAACGTGGCCAGCTA 0.522000 4 71 0 0 0.009096 0 0 CXorf36 79742 broad.mit.edu 37 X 45013318 45013318 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:45013318G>T ENST00000398000.2 - 4 872 c.798C>A c.(796-798)gaC>gaA p.D266E CXorf36_ENST00000477281.1_5'UTR NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 266 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 GGTAGGCAAGGTCGGCTGCCT 0.557000 9 73 7.48243e-07 8.62923e-07 0.006214 1 0 CADM2 253559 broad.mit.edu 37 3 86010666 86010666 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:86010666C>A ENST00000383699.3 + 8 1466 c.839C>A c.(838-840)cCt>cAt p.P280H CADM2_ENST00000407528.2_Missense_Mutation_p.P271H|CADM2_ENST00000405615.2_Missense_Mutation_p.P273H NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 271 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TTACCAGATCCTGACCGAATG 0.403000 17 33 6.44725e-10 7.89144e-10 0.014323 1 0 CROCC 9696 broad.mit.edu 37 1 17250965 17250965 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:17250965C>T ENST00000375541.5 + 3 411 c.342C>T c.(340-342)gtC>gtT p.V114V CROCC_ENST00000467938.1_Intron NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 114 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACAATGCGGTCAGCGAGAGGG 0.652000 12 22 0 0 0.010729 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47241556 47241556 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:47241556C>A ENST00000300404.2 + 8 1112 c.1053C>A c.(1051-1053)acC>acA p.T351T B4GALNT2_ENST00000504681.1_Silent_p.T265T|B4GALNT2_ENST00000393354.2_Silent_p.T291T NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 351 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity p.T351T(1) endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CAGACTTGACCGTAATAGTGG 0.483000 57 134 9.59835e-30 1.41206e-29 0.014410 1 0 OPN1LW 5956 broad.mit.edu 37 X 153420089 153420089 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:153420089G>C ENST00000369951.4 + 4 679 c.619G>C c.(619-621)Gtg>Ctg p.V207L OPN1LW_ENST00000463296.1_Intron NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 207 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGGCCCAGACGTGTTCAGCGG 0.622000 15 87 0 0 0.002780 0 0 C15orf59 388135 broad.mit.edu 37 15 74032288 74032288 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr15:74032288G>T ENST00000569673.1 - 3 2056 c.852C>A c.(850-852)gcC>gcA p.A284A C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.A284A Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 284 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCTGTCTAGTGGCTGTGTAGG 0.527000 57 97 1.3268e-25 1.93334e-25 0.014410 1 0 XYLT1 64131 broad.mit.edu 37 16 17211698 17211698 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:17211698C>T ENST00000261381.6 - 11 2446 c.2362G>A c.(2362-2364)Gtc>Atc p.V788I NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 788 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATGACATTGACGGGATCCACC 0.572000 14 52 0 0 0.001855 0 0 GYPC 2995 broad.mit.edu 37 2 127453545 127453545 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:127453545G>T ENST00000259254.4 + 4 545 c.214G>T c.(214-216)Gtc>Ttc p.V72F GYPC_ENST00000356887.7_Missense_Mutation_p.V51F|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Missense_Mutation_p.V53F NM_002101.4 NP_002092.1 P04921 GLPC_HUMAN glycophorin C (Gerbich blood group) 72 cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1) 13 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) TGTGGCCATCGTCCTAGTCTC 0.607000 27 90 1.77063e-15 2.36256e-15 0.005443 1 0 WNT9A 7483 broad.mit.edu 37 1 228112026 228112026 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:228112026G>T ENST00000272164.5 - 3 438 c.428C>A c.(427-429)gCg>gAg p.A143E WNT9A_ENST00000497852.1_5'UTR NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 143 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) CATGCGGCCCGCGCTGCACGC 0.652000 30 67 7.38237e-10 8.9643e-10 0.006320 1 0 PYHIN1 149628 broad.mit.edu 37 1 158911901 158911901 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158911901G>A ENST00000368140.1 + 5 959 c.714G>A c.(712-714)atG>atA p.M238I PYHIN1_ENST00000392252.3_Missense_Mutation_p.M229I|PYHIN1_ENST00000392254.2_Missense_Mutation_p.M238I|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.M229I NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 238 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAAGAAGAATGTTTCATGCTA 0.328000 14 21 0 0 0.003163 0 0 ANK2 287 broad.mit.edu 37 4 114277965 114277965 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:114277965G>A ENST00000357077.4 + 38 8244 c.8191G>A c.(8191-8193)Ggc>Agc p.G2731S ANK2_ENST00000264366.6_Missense_Mutation_p.G2698S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2698 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGAAGAGCCAGGCAAATCAGA 0.413000 19 34 0 0 0.006122 0 0 CDH18 1016 broad.mit.edu 37 5 19543986 19543986 + Nonsense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:19543986G>T ENST00000507958.1 - 11 2372 c.1382C>A c.(1381-1383)tCa>tAa p.S461* CDH18_ENST00000506372.1_Nonsense_Mutation_p.S461*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.S461*|CDH18_ENST00000511273.1_Nonsense_Mutation_p.S461*|CDH18_ENST00000274170.4_Nonsense_Mutation_p.S461*|CDH18_ENST00000502796.1_Nonsense_Mutation_p.S461* Q13634 CAD18_HUMAN cadherin 18, type 2 461 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) ACCAATTTCTGAAGCAGTGAC 0.373000 19 45 0.000175454 0.000190838 0.010504 1 0 OR8B8 26493 broad.mit.edu 37 11 124310805 124310805 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:124310805C>A ENST00000328064.2 - 1 249 c.177G>T c.(175-177)atG>atT p.M59I NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GGAAGAAGTACATAGGGGTGT 0.448000 7 57 0.000157383 0.000171589 0.003080 1 0 RYR2 6262 broad.mit.edu 37 1 237756921 237756921 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:237756921G>T ENST00000366574.2 + 33 4738 c.4421G>T c.(4420-4422)gGa>gTa p.G1474V RYR2_ENST00000360064.6_Missense_Mutation_p.G1472V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1458V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1474 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATGAAAAAGGAAAAGTGCAT 0.383000 11 38 3.07112e-06 3.50657e-06 0.010729 1 0 GABBR2 9568 broad.mit.edu 37 9 101148033 101148033 + Silent SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:101148033T>C ENST00000259455.2 - 11 2010 c.1551A>G c.(1549-1551)ccA>ccG p.P517P NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 517 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TGTTCATGTATGGACTCGACA 0.383000 8 19 0 0 0.003080 0 0 FAM83B 222584 broad.mit.edu 37 6 54805944 54805944 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:54805944C>G ENST00000306858.7 + 5 2291 c.2175C>G c.(2173-2175)acC>acG p.T725T NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 725 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) AGGAAGTTACCAAGAGAAACT 0.393000 22 42 0 0 0.002780 0 0 LAMC1 3915 broad.mit.edu 37 1 183090875 183090875 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:183090875G>C ENST00000258341.4 + 12 2265 c.2008G>C c.(2008-2010)Gat>Cat p.D670H NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 670 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATATTTGGATGATGTCACCCT 0.473000 3 29 0 0 0.009096 0 0 SPEF2 79925 broad.mit.edu 37 5 35712959 35712959 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:35712959A>C ENST00000440995.2 + 20 2870 c.2870A>C c.(2869-2871)aAg>aCg p.K957T CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.K962T Q9C093 SPEF2_HUMAN sperm flagellar 2 962 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAAAAGGGAAGAAAGGTGAG 0.353000 34 27 0 0 0.004878 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123920 26123920 + Missense_Mutation SNP A A C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:26123920A>C ENST00000314332.5 - 1 218 c.213T>G c.(211-213)ttT>ttG p.F71L HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.F71L P62807 H2B1C_HUMAN histone cluster 1, H2bc 71 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 CGATGCGCTCAAATATGTCGT 0.572000 70 100 0 0 0.014410 0 0 OR51V1 283111 broad.mit.edu 37 11 5221760 5221760 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:5221760C>A ENST00000321255.1 - 1 170 c.171G>T c.(169-171)gtG>gtT p.V57V NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGTCCATATCACATGGAGAA 0.527000 22 21 5.35356e-11 6.64131e-11 0.002780 1 0 HACE1 57531 broad.mit.edu 37 6 105233031 105233031 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:105233031G>A ENST00000262903.4 - 12 1514 c.1238C>T c.(1237-1239)cCt>cTt p.P413L HACE1_ENST00000369125.2_Missense_Mutation_p.P413L NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 413 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) ATAGCTCCCAGGTCCTGGAGG 0.433000 15 31 0 0 0.003163 0 0 UBAP2L 9898 broad.mit.edu 37 1 154207096 154207096 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:154207096G>T ENST00000428931.1 + 5 476 c.309G>T c.(307-309)aaG>aaT p.K103N UBAP2L_ENST00000343815.6_Missense_Mutation_p.K103N|UBAP2L_ENST00000271877.7_Missense_Mutation_p.K103N|UBAP2L_ENST00000361546.2_Missense_Mutation_p.K103N NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 103 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGAAGAAGAAGGGAGTCTCAG 0.507000 14 29 4.93089e-13 6.26947e-13 0.002450 1 0 EGFR 1956 broad.mit.edu 37 7 55224477 55224477 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:55224477C>A ENST00000275493.2 + 10 1336 c.1159C>A c.(1159-1161)Ctg>Atg p.L387M EGFR_ENST00000454757.2_Missense_Mutation_p.L334M|EGFR_ENST00000342916.3_Missense_Mutation_p.L387M|EGFR_ENST00000442591.1_Missense_Mutation_p.L387M|EGFR_ENST00000420316.2_Missense_Mutation_p.L387M|EGFR_ENST00000344576.2_Missense_Mutation_p.L387M|EGFR_ENST00000455089.1_Missense_Mutation_p.L342M NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 387 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L387V(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TACTCCTCCTCTGGATCCACA 0.363000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 37 30 1.04594e-18 1.46368e-18 0.006230 1 0 OR5A1 219982 broad.mit.edu 37 11 59211268 59211268 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:59211268C>T ENST00000302030.2 + 1 652 c.627C>T c.(625-627)gtC>gtT p.V209V NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TGGTCACTGTCGGAGGAACAT 0.527000 39 146 0 0 0.004289 0 0 MAMDC2 256691 broad.mit.edu 37 9 72783656 72783656 + Silent SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:72783656T>C ENST00000377182.4 + 10 2060 c.1443T>C c.(1441-1443)tgT>tgC p.C481C MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000591368.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 481 MAM 3. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 TCTGGGACTGTGGGCTTGTAG 0.398000 6 12 0 0 0.001168 0 0 MORC3 23515 broad.mit.edu 37 21 37741749 37741749 + Nonsense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr21:37741749C>T ENST00000400485.1 + 15 2159 c.2083C>T c.(2083-2085)Caa>Taa p.Q695* MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 695 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 TGCAGGCTGCCAATTACAAGA 0.398000 20 20 0 0 0.007413 0 0 PGGT1B 5229 broad.mit.edu 37 5 114588852 114588852 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:114588852C>A ENST00000419445.1 - 2 261 c.241G>T c.(241-243)Gtc>Ttc p.V81F PGGT1B_ENST00000379615.3_Missense_Mutation_p.V81F NM_005023.3 NP_005014.2 P53609 PGTB1_HUMAN protein geranylgeranyltransferase type I, beta subunit 81 protein geranylgeranylation CAAX-protein geranylgeranyltransferase complex CAAX-protein geranylgeranyltransferase activity breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06) Pravastatin(DB00175) GTGGGAAGGACCTGCAGGGAA 0.388000 12 44 6.42651e-13 8.12609e-13 0.010729 1 0 PRDM8 56978 broad.mit.edu 37 4 81123069 81123069 + Splice_Site SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:81123069G>T ENST00000339711.4 + 10 1684 c.451_splice c.e10-1 p.G151_splice PRDM8_ENST00000504452.1_Splice_Site_p.G151_splice|PRDM8_ENST00000415738.2_Splice_Site_p.G151_splice NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 ACTAAGCAGGGTCGTCCCCTT 0.562000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 54 1.64293e-13 2.10058e-13 0.003330 1 0 PRMT6 55170 broad.mit.edu 37 1 107600045 107600045 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:107600045C>G ENST00000361318.5 + 1 779 c.531C>G c.(529-531)atC>atG p.I177M PRMT6_ENST00000370078.1_Missense_Mutation_p.I236M NM_018137.2 NP_060607.2 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 236 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 14 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) ACTCGGAGATCGTTGTGCAGG 0.672000 10 70 0 0 0.010729 0 0 DOCK7 85440 broad.mit.edu 37 1 62961329 62961329 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:62961329G>A ENST00000251157.5 - 39 4953 c.4920C>T c.(4918-4920)ctC>ctT p.L1640L DOCK7_ENST00000340370.5_Silent_p.L1618L NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1649 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GAATCATATGGAGATTGAAAA 0.333000 3 20 0 0 0.004672 0 0 ZNF536 9745 broad.mit.edu 37 19 31040177 31040177 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:31040177C>A ENST00000355537.3 + 4 3798 c.3651C>A c.(3649-3651)ccC>ccA p.P1217P NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCTCCCAGCCCGTCCAGGGAC 0.627000 9 46 7.48243e-07 8.62923e-07 0.006214 1 0 CRMP1 1400 broad.mit.edu 37 4 5857888 5857888 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr4:5857888C>T ENST00000324989.7 - 4 890 c.802G>A c.(802-804)Gtg>Atg p.V268M CRMP1_ENST00000397890.2_Missense_Mutation_p.V154M|CRMP1_ENST00000512574.1_Missense_Mutation_p.V152M|CRMP1_ENST00000511535.1_5'UTR NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 154 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) TGCACCAGCACCTCCAGCTCC 0.522000 10 49 0 0 0.010729 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156910211 156910211 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:156910211C>T ENST00000368194.3 - 36 4560 c.3521G>A c.(3520-3522)gGg>gAg p.G1174E ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G550E|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.G1134E NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1134 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.G1174V(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCTGGGACCCAGTGCCTGT 0.602000 8 53 0 0 0.004482 0 0 ABCC10 89845 broad.mit.edu 37 6 43400666 43400666 + Silent SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:43400666G>C ENST00000244533.3 + 1 1178 c.819G>C c.(817-819)ggG>ggC p.G273G ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Silent_p.G316G NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 316 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGGAAGAGGGGCAGGAGCCAC 0.592000 21 43 0 0 0.008871 0 0 HERC2 8924 broad.mit.edu 37 15 28389852 28389852 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr15:28389852G>C ENST00000261609.7 - 72 11215 c.11107C>G c.(11107-11109)Cgc>Ggc p.R3703G NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3703 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACGGTGAAGCGCCAGCCCCAG 0.567000 11 32 0 0 0.001855 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563434 140563434 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140563434G>C ENST00000361016.2 + 1 2455 c.1300G>C c.(1300-1302)Gag>Cag p.E434Q NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 434 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGAAAACGGAGCACAACAT 0.502000 28 133 0 0 0.005443 0 0 PLXNA3 55558 broad.mit.edu 37 X 153699969 153699969 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:153699969G>A ENST00000369682.3 + 32 5683 c.5508G>A c.(5506-5508)aaG>aaA p.K1836K NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1836 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGTCACCAAGTACCGCCAGG 0.587000 23 50 0 0 0.014323 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187374 37187374 + RNA SNP T T G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr17:37187374T>G ENST00000425901.2 + 0 1216 NR_033753.2 AACCATGTTTTTTTCCTCCAA 0.488000 5 15 0 0 0.000602 0 0 C2orf57 165100 broad.mit.edu 37 2 232458229 232458229 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:232458229C>T ENST00000313965.2 + 1 655 c.567C>T c.(565-567)acC>acT p.T189T NM_152614.2 NP_689827.2 Q53QW1 CB057_HUMAN chromosome 2 open reading frame 57 189 endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 19 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CTGCCAGCACCACCAAGTCTG 0.582000 34 27 0 0 0.013726 0 0 MPPED1 758 broad.mit.edu 37 22 43831029 43831029 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr22:43831029G>T ENST00000417669.1 + 3 744 c.300G>T c.(298-300)tcG>tcT p.S100S MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Silent_p.S100S|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Silent_p.S133S|MPPED1_ENST00000443721.1_Silent_p.S100S O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 100 hydrolase activity p.S100S(1) endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) ATACCCACTCGAGGACGGACC 0.627000 44 82 9.84934e-19 1.38252e-18 0.010771 1 0 MED12 9968 broad.mit.edu 37 X 70348450 70348450 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:70348450C>A ENST00000333646.6 + 24 3556 c.3357C>A c.(3355-3357)gtC>gtA p.V1119V MED12_ENST00000374102.1_Silent_p.V1119V|MED12_ENST00000374080.3_Silent_p.V1119V NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1119 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TCCTCCAGGTCAGTGACCTAT 0.532000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 37 2.5808e-16 3.47386e-16 0.006122 1 0 SUSD3 203328 broad.mit.edu 37 9 95846817 95846817 + Splice_Site SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:95846817A>T ENST00000375472.3 + 5 593 c.e5-1 SUSD3_ENST00000375469.1_Splice_Site NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 CTCTCTCCACAGAGACCATGG 0.602000 18 27 0 0 0.008871 0 0 FAM173A 65990 broad.mit.edu 37 16 771923 771923 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:771923C>T ENST00000564000.1 + 3 568 c.390C>T c.(388-390)cgC>cgT p.R130R FAM173A_ENST00000569529.1_Silent_p.R130R|FAM173A_ENST00000219535.3_Silent_p.R130R Q9BQD7 F173A_HUMAN family with sequence similarity 173, member A 130 integral to membrane pancreas(1) 1 TCTGCTATCGCCGCAAGGATC 0.721000 6 6 0 0 0.001168 0 0 PDIA4 9601 broad.mit.edu 37 7 148703045 148703045 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:148703045C>A ENST00000286091.4 - 8 1464 c.1232G>T c.(1231-1233)aGg>aTg p.R411M NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 411 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CAGGGGGCGCCTGGTGTAGCG 0.632000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 38 3.83957e-06 4.37311e-06 0.002780 1 0 OR4A16 81327 broad.mit.edu 37 11 55111023 55111023 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:55111023T>A ENST00000314721.2 + 1 397 c.347T>A c.(346-348)aTg>aAg p.M116K NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M116T(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TTGGTGGTGATGGCCTATGAT 0.458000 29 124 0 0 0.008361 0 0 PIWIL1 9271 broad.mit.edu 37 12 130845802 130845802 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:130845802C>A ENST00000245255.3 + 15 2015 c.1743C>A c.(1741-1743)acC>acA p.T581T NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 581 Piwi.|RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ATTGCCCTACCCCAAGTCAGT 0.453000 7 33 5.18039e-06 5.88564e-06 0.003080 1 0 ZNF606 80095 broad.mit.edu 37 19 58490876 58490876 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:58490876G>C ENST00000341164.4 - 7 1792 c.1172C>G c.(1171-1173)aCa>aGa p.T391R ZNF606_ENST00000536132.1_Missense_Mutation_p.T301R NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) GTAAGTGCTTGTATGTTGAGT 0.373000 11 53 0 0 0.008291 0 0 FBXO21 23014 broad.mit.edu 37 12 117595761 117595761 + Missense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:117595761C>G ENST00000427718.2 - 10 1508 c.1434G>C c.(1432-1434)gaG>gaC p.E478D FBXO21_ENST00000330622.5_Missense_Mutation_p.E485D NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 485 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CTACGCCCACCTCCTCCTTTT 0.577000 33 150 0 0 0.004289 0 0 XRN1 54464 broad.mit.edu 37 3 142141705 142141705 + Missense_Mutation SNP T T C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:142141705T>C ENST00000264951.4 - 7 887 c.770A>G c.(769-771)tAt>tGt p.Y257C XRN1_ENST00000544157.1_Missense_Mutation_p.Y47C|XRN1_ENST00000392981.2_Missense_Mutation_p.Y257C|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257C NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 257 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 ATAGTCAATATACTCTCTCAT 0.328000 13 30 0 0 0.001855 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721990 135721990 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:135721990C>G ENST00000264977.3 + 2 2267 c.1650C>G c.(1648-1650)acC>acG p.T550T PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 550 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCGGTCAGACCCTTGTAGATC 0.388000 7 23 0 0 0.001984 0 0 ZNF222 7673 broad.mit.edu 37 19 44536246 44536246 + Nonsense_Mutation SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:44536246C>G ENST00000187879.8 + 4 581 c.419C>G c.(418-420)tCa>tGa p.S140* ZNF222_ENST00000391960.3_Nonsense_Mutation_p.S180*|ZNF223_ENST00000591793.1_Intron NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) CAGTTATATTCAGGAGAGAAG 0.403000 23 72 0 0 0.012319 0 0 BCAM 4059 broad.mit.edu 37 19 45322414 45322414 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:45322414G>T ENST00000391955.1 + 11 1482 c.1438G>T c.(1438-1440)Gac>Tac p.D480Y BCAM_ENST00000270233.6_Missense_Mutation_p.D480Y P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 480 Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CGGCCATCCAGACCCCAAACT 0.592000 23 77 2.52088e-20 3.61588e-20 0.002780 1 0 TSIX 9383 broad.mit.edu 37 X 73046187 73046187 + RNA SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:73046187G>A ENST00000604411.1 + 0 34148 XIST_ENST00000429829.1_lincRNA NR_003255.2 CTGCTCCTGAGGGAAGTTAAC 0.403000 7 39 0 0 0.001984 0 0 OR52B2 255725 broad.mit.edu 37 11 6190980 6190980 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:6190980C>T ENST00000530810.1 - 1 658 c.577G>A c.(577-579)Gac>Aac p.D193N RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAGTGATGTCAGCACAGGCT 0.488000 11 5 0 0 0.008291 0 0 MAGEB10 139422 broad.mit.edu 37 X 27840147 27840147 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:27840147G>T ENST00000356790.2 + 3 969 c.724G>T c.(724-726)Ggg>Tgg p.G242W NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 242 MAGE. NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 CTTCATGTTTGGGGAGCCCAG 0.453000 11 29 3.86212e-05 4.2716e-05 0.008291 1 0 NFATC4 4776 broad.mit.edu 37 14 24839538 24839538 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:24839538C>T ENST00000413692.2 + 3 1267 c.1123C>T c.(1123-1125)Cct>Tct p.P375S NFATC4_ENST00000556169.1_Missense_Mutation_p.P300S|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554966.1_Missense_Mutation_p.P325S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P325S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P375S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P300S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P300S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P312S|NFATC4_ENST00000553469.1_Missense_Mutation_p.P344S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P242S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P242S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P242S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P242S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P344S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P325S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P312S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P312S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P344S NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 312 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CCCGGGCTCCCCTGGTCCCTT 0.677000 10 42 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9009600 9009600 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr19:9009600G>T ENST00000397910.4 - 39 39329 c.39126C>A c.(39124-39126)gtC>gtA p.V13042V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13044 SEA 7. 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 GACCCTGCAGGACCCTCTCTG 0.552000 17 59 3.41278e-10 4.19964e-10 0.004990 1 0 EHBP1 23301 broad.mit.edu 37 2 63176238 63176238 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:63176238G>A ENST00000263991.5 + 14 2844 c.2362G>A c.(2362-2364)Gat>Aat p.D788N EHBP1_ENST00000405289.1_Missense_Mutation_p.D753N|EHBP1_ENST00000405015.3_Missense_Mutation_p.D753N|EHBP1_ENST00000354487.3_Missense_Mutation_p.D753N|EHBP1_ENST00000431489.1_Missense_Mutation_p.D753N NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 788 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GACGGAGTCTGATCCAGATGC 0.353000 15 32 0 0 0.002450 0 0 TPH2 121278 broad.mit.edu 37 12 72388341 72388341 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:72388341C>A ENST00000333850.3 + 8 1205 c.1064C>A c.(1063-1065)gCc>gAc p.A355D NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 355 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) CAGAAACTAGCCACGGTGAGT 0.393000 17 15 4.7546e-09 5.72799e-09 0.004007 1 0 INHBE 83729 broad.mit.edu 37 12 57850009 57850009 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:57850009G>T ENST00000266646.2 + 2 647 c.431G>T c.(430-432)cGa>cTa p.R144L INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 144 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 AGGATCTTCCGATGGGGACCA 0.617000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 154 3.80469e-20 5.44036e-20 0.009535 1 0 FRS2 10818 broad.mit.edu 37 12 69967839 69967839 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:69967839A>G ENST00000299293.2 + 10 1141 c.631A>G c.(631-633)Agt>Ggt p.S211G FRS2_ENST00000549921.1_Missense_Mutation_p.S211G|FRS2_ENST00000397997.2_Missense_Mutation_p.S211G|FRS2_ENST00000550389.1_Missense_Mutation_p.S211G NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 211 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AAACCGCACAAGTGTGCATGT 0.408000 7 44 0 0 0.001984 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174788 207174788 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:207174788C>T ENST00000374423.3 + 5 5922 c.5536C>T c.(5536-5538)Ctg>Ttg p.L1846L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1846 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AATTAATGCTCTGGTGAAGGA 0.413000 13 23 0 0 0.013537 0 0 INSC 387755 broad.mit.edu 37 11 15260566 15260566 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:15260566C>A ENST00000379554.3 + 11 1526 c.1480C>A c.(1480-1482)Ctg>Atg p.L494M INSC_ENST00000528567.1_Missense_Mutation_p.L447M|INSC_ENST00000424273.1_Missense_Mutation_p.L405M|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.L405M|INSC_ENST00000379556.3_Missense_Mutation_p.L447M|INSC_ENST00000530161.1_Missense_Mutation_p.L447M NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 494 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TGCAGTGACCCTGGCTCGTCT 0.602000 23 7 1.90627e-21 2.7515e-21 0.012319 1 0 TMC5 79838 broad.mit.edu 37 16 19498557 19498557 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:19498557C>T ENST00000396229.2 + 17 3231 c.2482C>T c.(2482-2484)Cgg>Tgg p.R828W TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 828 integral to membrane p.R828W(1)|p.R582W(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAAAGCCTGGCGGGCCTCACA 0.567000 25 19 0 0 0.003330 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149008500 149008500 + Silent SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:149008500C>T ENST00000333677.6 + 12 1952 c.1789C>T c.(1789-1791)Cta>Tta p.L597L NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 597 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 CAGCCCAGCTCTAGTGCCCTC 0.592000 15 21 0 0 0.002450 0 0 CACNA2D1 781 broad.mit.edu 37 7 81714097 81714097 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:81714097G>C ENST00000356860.3 - 7 984 c.646C>G c.(646-648)Cga>Gga p.R216G CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R216G|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R216G NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 216 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GGATAATATCGAGCTAGGCCA 0.423000 8 32 0 0 0.006214 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16863110 16863110 + Nonsense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:16863110G>A ENST00000355661.3 - 9 866 c.856C>T c.(856-858)Cga>Tga p.R286* PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R286*|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R286* Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 286 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 AGTGACGATCGAGACAGCACC 0.567000 7 56 0 0 0.004482 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455574 84455574 + Silent SNP A A T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr13:84455574A>T ENST00000377084.2 - 1 954 c.69T>A c.(67-69)gtT>gtA p.V23V NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 23 LRRNT. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCTCTTTGCAAACGTCCCCTG 0.473000 21 17 0 0 0.014323 0 0 ATG5 9474 broad.mit.edu 37 6 106727555 106727555 + Silent SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:106727555G>A ENST00000369076.3 - 5 782 c.459C>T c.(457-459)ctC>ctT p.L153L ATG5_ENST00000369070.1_Silent_p.L75L|ATG5_ENST00000343245.3_Silent_p.L153L|ATG5_ENST00000360666.4_Intron NM_004849.2 NP_004840.1 Q9H1Y0 ATG5_HUMAN autophagy related 5 153 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding endometrium(1)|large_intestine(5)|lung(1)|prostate(1) 8 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) ATCCCATCCAGAGTTGCTTGT 0.303000 7 29 0 0 0.003080 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837248 12837248 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:12837248C>A ENST00000357726.4 + 3 985 c.958C>A c.(958-960)Cag>Aag p.Q320K NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 320 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCATCCGTCAGCTAAAAGA 0.582000 33 130 8.4185e-14 1.09464e-13 0.012213 1 0 TIE1 7075 broad.mit.edu 37 1 43775150 43775150 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:43775150G>A ENST00000372476.3 + 9 1359 c.1280G>A c.(1279-1281)cGt>cAt p.R427H TIE1_ENST00000433781.2_Missense_Mutation_p.R72H NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 427 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R427H(1) 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) TGGGAGTGCCGTGTGTCCACA 0.572000 8 37 0 0 0.004482 0 0 CCNJL 79616 broad.mit.edu 37 5 159680645 159680645 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:159680645C>T ENST00000393977.3 - 7 1333 c.1048G>A c.(1048-1050)Gtg>Atg p.V350M CCNJL_ENST00000257536.7_Missense_Mutation_p.V302M|CCNJL_ENST00000377503.2_5'UTR NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 350 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGTCCTGCACGGGGGTCTGG 0.677000 28 33 0 0 0.006320 0 0 ZFP57 346171 broad.mit.edu 37 6 29640726 29640726 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:29640726G>A ENST00000376883.1 - 6 1513 c.1102C>T c.(1102-1104)Cat>Tat p.H368Y ZFP57_ENST00000376881.3_Missense_Mutation_p.H368Y|ZFP57_ENST00000488757.1_Missense_Mutation_p.H388Y Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 304 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 AAAGAACAATGGGGGCAACAG 0.517000 51 265 0 0 0.014410 0 0 DLGAP3 58512 broad.mit.edu 37 1 35351192 35351192 + Missense_Mutation SNP G G C TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:35351192G>C ENST00000373347.1 - 7 2069 c.1801C>G c.(1801-1803)Ccg>Gcg p.P601A DLGAP3_ENST00000235180.4_Missense_Mutation_p.P601A O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 601 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) GCCCGGGGCGGCACCGGCGCC 0.761000 7 10 0 0 0.001984 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73148476 73148476 + Splice_Site SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:73148476G>T ENST00000545377.1 + 14 1925 c.1747_splice c.e14-1 p.E583_splice ARHGEF28_ENST00000426542.2_Splice_Site_p.E583_splice|ARHGEF28_ENST00000437974.1_Splice_Site_p.E583_splice|ARHGEF28_ENST00000296794.6_Splice_Site_p.E583_splice|ARHGEF28_ENST00000287898.5_Splice_Site_p.E583_splice|ARHGEF28_ENST00000296799.4_Splice_Site_p.E270_splice|ARHGEF28_ENST00000513042.2_Splice_Site_p.E583_splice NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GTCTTGTAGAGCAAAGAGCTT 0.373000 31 67 2.42023e-17 3.31608e-17 0.003271 1 0 TSHZ2 128553 broad.mit.edu 37 20 51870753 51870753 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr20:51870753C>A ENST00000371497.5 + 2 1643 c.756C>A c.(754-756)ccC>ccA p.P252P TSHZ2_ENST00000603338.2_Silent_p.P249P|TSHZ2_ENST00000329613.6_Silent_p.P249P NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 252 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGCTCAGACCCACGAGCTATT 0.483000 9 29 0.00448238 0.00474058 0.004482 1 0 FLT3 2322 broad.mit.edu 37 13 28588591 28588591 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr13:28588591C>T ENST00000380982.4 - 23 2947 c.2866G>A c.(2866-2868)Gcg>Acg p.A956T FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.A953T|FLT3_ENST00000537084.1_Missense_Mutation_p.A912T P36888 FLT3_HUMAN fms-related tyrosine kinase 3 953 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTACATACCGCTTCTTCTGCA 0.418000 """Mis, O""" """AML, ALL""" 5 10 0 0 0.001168 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552496 140552496 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:140552496G>T ENST00000231137.3 + 1 254 c.80G>T c.(79-81)gGc>gTc p.G27V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 27 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTTGGGCTGGCGCCGAACCG 0.502000 40 60 4.32679e-17 5.87573e-17 0.006999 1 0 SPTA1 6708 broad.mit.edu 37 1 158613152 158613152 + Nonsense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158613152T>A ENST00000368148.3 - 31 4582 c.4402A>T c.(4402-4404)Aaa>Taa p.K1468* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.K1468* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1468 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) ATCTCTTCTTTGGCATAGTGT 0.443000 20 36 0 0 0.012319 0 0 GCLC 2729 broad.mit.edu 37 6 53387311 53387311 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr6:53387311C>A ENST00000229416.6 - 2 648 c.165G>T c.(163-165)ttG>ttT p.L55F GCLC_ENST00000514004.1_Missense_Mutation_p.L55F NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 55 L -> S (in dbSNP:rs2066512). anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CAAAAGATACCAACATGTATT 0.403000 3 35 0.004672 0.00492977 0.004672 1 0 TRBV27 28560 broad.mit.edu 37 7 142423633 142423633 + RNA SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:142423633C>T ENST00000506718.1 + 0 641 TRBV27_ENST00000390399.3_RNA CCCCCTGATCCTGGAGTCGCC 0.498000 6 43 0 0 0.001168 0 0 GALNT5 11227 broad.mit.edu 37 2 158115703 158115703 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:158115703C>T ENST00000259056.4 + 1 1594 c.1109C>T c.(1108-1110)tCa>tTa p.S370L NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 370 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 TCTTCCTCTTCACTTGCTCCA 0.413000 18 30 0 0 0.004990 0 0 AEBP1 165 broad.mit.edu 37 7 44144413 44144413 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:44144413G>A ENST00000223357.3 + 1 454 c.149G>A c.(148-150)cGg>cAg p.R50Q NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 50 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 CCTGAGCCCCGGGAGGACGAC 0.726000 3 14 0 0 0.004672 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212723 26212723 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:26212723G>A ENST00000379034.1 + 2 909 c.760G>A c.(760-762)Gaa>Aaa p.E254K NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 254 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TGAATTGAAAGAAATGGATTC 0.527000 20 53 0 0 0.008871 0 0 BSX 390259 broad.mit.edu 37 11 122848574 122848574 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr11:122848574C>T ENST00000343035.2 - 3 533 c.485G>A c.(484-486)cGg>cAg p.R162Q NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 162 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) ATGCTTCATCCGCCGGTTCTG 0.532000 15 64 0 0 0.002450 0 0 OR6K6 128371 broad.mit.edu 37 1 158725561 158725561 + Missense_Mutation SNP T T A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:158725561T>A ENST00000368144.2 + 1 1052 c.956T>A c.(955-957)cTg>cAg p.L319Q NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) ATCTATAGCCTGAAAAACAAG 0.433000 17 65 0 0 0.006122 0 0 SARDH 1757 broad.mit.edu 37 9 136582475 136582475 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr9:136582475C>T ENST00000371872.4 - 8 1380 c.1123G>A c.(1123-1125)Gga>Aga p.G375R SARDH_ENST00000439388.1_Missense_Mutation_p.G375R|SARDH_ENST00000422262.2_Missense_Mutation_p.G207R NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 375 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GACTTGATTCCTGTCTTCTCC 0.587000 15 41 0 0 0.004990 0 0 ACAD10 80724 broad.mit.edu 37 12 112182571 112182571 + Silent SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr12:112182571G>T ENST00000455480.2 + 14 2109 c.1932G>T c.(1930-1932)ccG>ccT p.P644P ACAD10_ENST00000392636.2_Silent_p.P215P|ACAD10_ENST00000549590.1_Silent_p.P613P|ACAD10_ENST00000313698.4_Silent_p.P613P|ACAD10_ENST00000413681.3_3'UTR NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 613 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TCACAAATCCGTTAACAAGGT 0.532000 19 41 6.94344e-10 8.45369e-10 0.006122 1 0 LOC100130331 100130331 broad.mit.edu 37 1 238090216 238090216 + RNA SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:238090216C>A ENST00000450451.1 + 0 1722 NR_027247.2 GCCCCCCAAGCTGTGTTTCCC 0.602000 7 17 0.00198382 0.00212255 0.001984 1 0 IPO9 55705 broad.mit.edu 37 1 201839778 201839778 + Missense_Mutation SNP A A G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:201839778A>G ENST00000361565.4 + 18 2270 c.2201A>G c.(2200-2202)gAg>gGg p.E734G NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 734 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 TGGCATGATGAGCAGGGCCAC 0.582000 15 51 0 0 0.002450 0 0 MCF2L2 23101 broad.mit.edu 37 3 183006944 183006944 + Silent SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr3:183006944C>A ENST00000328913.3 - 14 2037 c.1740G>T c.(1738-1740)cgG>cgT p.R580R MCF2L2_ENST00000447025.2_Silent_p.R580R|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Silent_p.R580R|MCF2L2_ENST00000414362.2_Silent_p.R580R NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 580 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CTTCCTTTCCCCGGGAGTTCA 0.403000 4 34 0.00024832 0.000268186 0.009096 1 0 SLC45A2 51151 broad.mit.edu 37 5 33944822 33944822 + Silent SNP C C G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:33944822C>G ENST00000296589.4 - 7 1670 c.1524G>C c.(1522-1524)gtG>gtC p.V508V SLC45A2_ENST00000342059.3_Silent_p.V449V NM_016180.3 NP_057264.3 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 508 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 ACGCTGTGATCACCACGACGA 0.547000 11 51 0 0 0.010729 0 0 PTAFR 5724 broad.mit.edu 37 1 28476723 28476723 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:28476723delG ENST00000373857.3 - 2 1444 c.810delC c.(808-810)gcfs p.A270fs PTAFR_ENST00000305392.3_Frame_Shift_Del_p.A270fs|PTAFR_ENST00000539896.1_Frame_Shift_Del_p.A270fs NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 270 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CATCATTAATGGCCTGGTGGA 0.547 17 31 --- --- --- --- LPPR4 9890 broad.mit.edu 37 1 99771495 99771495 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr1:99771495delG ENST00000370185.3 + 7 1718 c.1221delG c.(1219-1221)aafs p.K407fs LPPR4_ENST00000370184.1_Frame_Shift_Del_p.K249fs|LPPR4_ENST00000457765.1_Frame_Shift_Del_p.K349fs NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 407 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCATGGGGAAGGAGAACATGG 0.483 17 48 --- --- --- --- TTC31 64427 broad.mit.edu 37 2 74718451 74718451 + Frame_Shift_Del DEL C C - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr2:74718451delC ENST00000410003.1 + 7 642 c.633delC c.(631-633)agfs p.S211fs TTC31_ENST00000233623.5_Frame_Shift_Del_p.S211fs|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Frame_Shift_Del_p.S67fs Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 211 binding p.P213fs*46(1) breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 GAGATGAGAGCCCCCCATCCA 0.542 35 49 --- --- --- --- TMEM161B 153396 broad.mit.edu 37 5 87492083 87492083 + Frame_Shift_Del DEL A A - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr5:87492083delA ENST00000296595.6 - 12 1533 c.1409delT c.(1408-1410)ccfs p.L470fs TMEM161B_ENST00000511218.1_Frame_Shift_Del_p.L261fs|TMEM161B_ENST00000506536.1_3'UTR|TMEM161B_ENST00000512429.1_Frame_Shift_Del_p.L459fs|TMEM161B_ENST00000514135.1_Intron NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 470 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) TGTAGAAAAGAGGCAAGCAGC 0.378 8 18 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5430010 5430011 + Frame_Shift_Del DEL AG AG - rs34840801 TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:5430010_5430011delAG ENST00000399434.2 - 3 528_529 c.370_371delCT c.(370-372)tfs p.L124fs TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron O15417 TNC18_HUMAN trinucleotide repeat containing 18 0 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) aaaaaaaaaaaGCCAGCATCCT 0.550 3 6 --- --- --- --- BMPER 168667 broad.mit.edu 37 7 34006128 34006129 + Frame_Shift_Ins INS - - A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:34006128_34006129insA ENST00000297161.2 + 5 731_732 c.357_358insA c.(355-360)ttaatgfs p.M120fs BMPER_ENST00000426693.1_Frame_Shift_Ins_p.M120fs NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 120 VWFC 2. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ACAGCTCCTTCAAATGGCAGAG 0.450 20 61 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39503780 39503780 + Splice_Site DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:39503780delG ENST00000559001.1 + 8 1507 c.e8-1 POU6F2_ENST00000518318.2_Intron|POU6F2_ENST00000403058.1_Splice_Site P78424 PO6F2_HUMAN POU class 6 homeobox 2 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 TTCCCCCCCAGACACACCATC 0.532 68 214 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55270296 55270296 + Frame_Shift_Del DEL C C - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:55270296delC ENST00000275493.2 + 27 3426 c.3249delC c.(3247-3249)gafs p.D1084fs EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Frame_Shift_Del_p.D1031fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.D1039fs NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 1084 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ACAGCATAGACGACACCTTCC 0.567 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 8 13 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 3 4 --- --- --- --- NRCAM 4897 broad.mit.edu 37 7 107832248 107832248 + Frame_Shift_Del DEL C C - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr7:107832248delC ENST00000379028.3 - 18 2298 c.1828delG c.(1828-1830)acfs p.D610fs NRCAM_ENST00000413765.2_Frame_Shift_Del_p.D591fs|NRCAM_ENST00000379022.4_Frame_Shift_Del_p.D610fs|NRCAM_ENST00000351718.4_Frame_Shift_Del_p.D604fs|NRCAM_ENST00000425651.2_Frame_Shift_Del_p.D610fs|NRCAM_ENST00000379024.4_Frame_Shift_Del_p.D591fs Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 610 Ig-like 6. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 GTCCCGCTGTCATCGTCACTG 0.512 14 36 --- --- --- --- FABP9 646480 broad.mit.edu 37 8 82370844 82370845 + Frame_Shift_Ins INS - - T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr8:82370844_82370845insT ENST00000379071.2 - 3 395_396 c.340_341insA c.(340-342)ggtfs p.G114fs RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 114 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) TACCACTACCATTTTTTCATCC 0.317 9 9 --- --- --- --- ABHD12B 145447 broad.mit.edu 37 14 51345565 51345565 + Splice_Site DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr14:51345565delG ENST00000337334.2 + 3 350 c.335_splice c.e3+1 p.W112_splice ABHD12B_ENST00000554241.1_Intron|ABHD12B_ENST00000395752.1_Splice_Site_p.W5_splice|ABHD12B_ENST00000353130.1_Intron|PYGL_ENST00000532462.1_Intron NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 112 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) CTAGGGATCTGGTGAGTGCAC 0.517 51 64 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 3 --- --- --- --- IGHV1OR16-2 28314 broad.mit.edu 37 16 32989804 32989804 + RNA DEL T T - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:32989804delT ENST00000567619.1 - 0 499 TGAAGGATCATTTTTTTGGTG 0.478 4 8 --- --- --- --- ABCC11 85320 broad.mit.edu 37 16 48234288 48234288 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chr16:48234288delG ENST00000394747.1 - 14 2330 c.1981delC c.(1981-1983)tgfs p.L661fs ABCC11_ENST00000537808.1_Frame_Shift_Del_p.L661fs|ABCC11_ENST00000356608.2_Frame_Shift_Del_p.L661fs|ABCC11_ENST00000353782.5_Frame_Shift_Del_p.L661fs|ABCC11_ENST00000394748.1_Frame_Shift_Del_p.L661fs NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 661 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) ACAGCAGACAGGGGGTCGTCC 0.612 17 40 --- --- --- --- NLGN4X 57502 broad.mit.edu 37 X 5821599 5821600 + Frame_Shift_Ins INS - - T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:5821599_5821600insT ENST00000381095.3 - 5 1746_1747 c.1119_1120insA c.(1117-1122)cagggafs p.QG373fs NLGN4X_ENST00000538097.1_Frame_Shift_Ins_p.QG373fs|NLGN4X_ENST00000381092.1_Frame_Shift_Ins_p.QG373fs|NLGN4X_ENST00000381093.2_Frame_Shift_Ins_p.QG393fs|NLGN4X_ENST00000275857.6_Frame_Shift_Ins_p.QG373fs NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 373 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AGGCCTTCCCCTTGGTTGACGC 0.579 13 40 --- --- --- --- STARD8 9754 broad.mit.edu 37 X 67938187 67938187 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:67938187delG ENST00000252336.6 + 5 1563 c.1191delG c.(1189-1191)gtfs p.V397fs STARD8_ENST00000374599.3_Frame_Shift_Del_p.V477fs|STARD8_ENST00000374597.3_Frame_Shift_Del_p.V397fs NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 397 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CTGAACCAGTGGCACAGGAAG 0.697 7 19 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108631849 108631849 + Frame_Shift_Del DEL G G - TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx a030f9a1-a066-4c6e-82c3-24c893e38466 55464e8c-b3cb-4ceb-841d-bfdbd4a49a6e g.chrX:108631849delG ENST00000218006.2 - 15 3116 c.2825delC c.(2824-2826)cafs p.P942fs NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 942 Guanylate cyclase. 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 ATTCCTCTTTGGGAGGCCTGA 0.458 21 114 --- --- --- ---