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 PHACTR3 116154 broad.mit.edu 37 20 58342414 58342414 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:58342414C>T ENST00000371015.1 + 5 1182 c.715C>T c.(715-717)Ccc>Tcc p.P239S PHACTR3_ENST00000359926.3_Missense_Mutation_p.P236S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P198S|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P198S|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P198S NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 239 Pro-rich. nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CACTCCGCCACCCAAGGCAAG 0.582000 21 24 0 0 0.002299 0 0 TTN 7273 broad.mit.edu 37 2 179452482 179452482 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:179452482A>G ENST00000589042.1 - 306 63778 c.63554T>C c.(63553-63555)aTa>aCa p.I21185T TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I12245T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I12312T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I12120T|TTN_ENST00000591111.1_Missense_Mutation_p.I19544T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I18617T|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19544 Fibronectin type-III 53. 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) TGCTCTCACTATGACCAGTTT 0.433000 24 41 0 0 0.006320 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709211 128709211 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:128709211C>G ENST00000392665.2 - 2 1072 c.928G>C c.(928-930)Gta>Cta p.V310L KCNJ1_ENST00000440599.2_Missense_Mutation_p.V310L|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V310L|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V310L|KCNJ1_ENST00000392664.2_Missense_Mutation_p.V329L NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 329 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) GTCTTGGATACTATGGGAGCA 0.493000 44 37 0 0 0.002852 0 0 GPC5 2262 broad.mit.edu 37 13 92408604 92408604 + Nonsense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:92408604C>T ENST00000377067.3 + 5 1582 c.1210C>T c.(1210-1212)Cag>Tag p.Q404* GPC5_ENST00000483422.1_3'UTR NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 404 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TCTAGCTGATCAGCTTTGTGC 0.373000 27 62 0 0 0.007291 0 0 THOC2 57187 broad.mit.edu 37 X 122774415 122774415 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chrX:122774415T>C ENST00000245838.8 - 16 1751 c.1720A>G c.(1720-1722)Agc>Ggc p.S574G THOC2_ENST00000491737.1_Missense_Mutation_p.S459G|THOC2_ENST00000355725.4_Missense_Mutation_p.S574G NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 574 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GTTGGATTGCTGTGGCTCAAC 0.383000 60 5 0 0 0.003610 0 0 ADCY2 108 broad.mit.edu 37 5 7789843 7789843 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr5:7789843G>A ENST00000338316.4 + 20 2647 c.2558G>A c.(2557-2559)cGc>cAc p.R853H ADCY2_ENST00000537121.1_Missense_Mutation_p.R673H NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 853 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 AACCTGAACCGCGTGCTGCTG 0.532000 35 77 0 0 0.003755 0 0 NAIF1 203245 broad.mit.edu 37 9 130829161 130829161 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:130829161C>G ENST00000373078.4 - 1 439 c.220G>C c.(220-222)Gac>Cac p.D74H NM_197956.3 NP_931045.1 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 74 apoptosis|induction of apoptosis nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GTCTTGAGGTCAGACCACTTC 0.697000 83 12 0 0 0.003610 0 0 PI4KA 5297 broad.mit.edu 37 22 21178651 21178651 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr22:21178651G>A ENST00000255882.6 - 4 505 c.419C>T c.(418-420)tCt>tTt p.S140F PI4KA_ENST00000572273.1_Missense_Mutation_p.S82F NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 82 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGCCACATCAGACAGCAGAGT 0.443000 18 33 0 0 0.002299 0 0 CYP4F8 11283 broad.mit.edu 37 19 15733053 15733053 + RNA SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:15733053G>C ENST00000441682.2 + 0 611 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CCTGGCCATGGAGGGCAGCAC 0.587000 16 27 0 0 0.004007 0 0 GSE1 23199 broad.mit.edu 37 16 85687969 85687969 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:85687969C>T ENST00000253458.7 + 4 688 c.512C>T c.(511-513)gCc>gTc p.A171V GSE1_ENST00000393243.1_Missense_Mutation_p.A98V|GSE1_ENST00000405402.2_Missense_Mutation_p.A67V NM_014615.2 NP_055430.1 Gse1 coiled-coil protein GGGGGACCAGCCATCCCCTCG 0.667000 9 17 0 0 0.000673 0 0 MYO9B 4650 broad.mit.edu 37 19 17309083 17309083 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:17309083G>A ENST00000595618.1 + 24 4356 c.4204G>A c.(4204-4206)Gca>Aca p.A1402T MYO9B_ENST00000594824.1_Missense_Mutation_p.A1402T|MYO9B_ENST00000397274.2_Missense_Mutation_p.A1402T NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1402 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CCTCCCAGACGCAGGGCTGTC 0.627000 17 37 0 0 0.006122 0 0 SLIT3 6586 broad.mit.edu 37 5 168112761 168112761 + Silent SNP G G A rs148625020 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr5:168112761G>A ENST00000519560.1 - 31 3905 c.3486C>T c.(3484-3486)ttC>ttT p.F1162F SLIT3_ENST00000404867.3_Silent_p.F1162F|SLIT3_ENST00000332966.8_Silent_p.F1169F NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1162 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.F1162F(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTTGCCCACGAAGTTGACAG 0.657000 24 14 0 0 0.003330 0 0 CDK8 1024 broad.mit.edu 37 13 26967609 26967609 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:26967609A>G ENST00000381527.3 + 7 1255 c.752A>G c.(751-753)cAg>cGg p.Q251R CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 251 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CACCATGACCAGCTGGACAGA 0.363000 73 109 0 0 0.003610 0 0 ATAD2B 54454 broad.mit.edu 37 2 24056880 24056880 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:24056880C>A ENST00000238789.5 - 14 1980 c.1637G>T c.(1636-1638)gGt>gTt p.G546V NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 546 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTTGTAGCACCAATAACAAC 0.383000 13 24 4.3838e-07 2.34754e-06 0.001855 1 0 KIAA1161 57462 broad.mit.edu 37 9 34371549 34371549 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:34371549C>G ENST00000297625.7 - 2 1516 c.1291G>C c.(1291-1293)Ggc>Cgc p.G431R NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 465 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CTGACCTCGCCCGCGTCGAAC 0.672000 2 7 0 0 0.004672 0 0 BRDT 676 broad.mit.edu 37 1 92446620 92446620 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:92446620C>A ENST00000370389.2 + 10 2340 c.1416C>A c.(1414-1416)agC>agA p.S472R BRDT_ENST00000362005.3_Missense_Mutation_p.S545R|BRDT_ENST00000402388.1_Missense_Mutation_p.S545R|BRDT_ENST00000399546.2_Missense_Mutation_p.S545R|BRDT_ENST00000394530.3_Missense_Mutation_p.S499R NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 545 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CTTCTCTGAGCAATTCCAATC 0.368000 29 11 1.50538e-07 8.10934e-07 0.006320 1 0 CNTN5 53942 broad.mit.edu 37 11 100169994 100169994 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:100169994C>T ENST00000524871.1 + 20 2776 c.2486C>T c.(2485-2487)tCt>tTt p.S829F CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S829F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S829F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S829F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S755F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 829 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GTGACATCCTCTGAAGCTTCC 0.433000 46 11 0 0 0.002522 0 0 AGMO 392636 broad.mit.edu 37 7 15599809 15599809 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:15599809C>A ENST00000342526.3 - 2 383 c.214G>T c.(214-216)Gct>Tct p.A72S NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 72 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 GACGTTAAAGCATCATCCAGG 0.443000 85 68 4.45923e-32 2.58692e-31 0.003610 1 0 LAMA1 284217 broad.mit.edu 37 18 6976021 6976021 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:6976021G>A ENST00000389658.3 - 45 6497 c.6404C>T c.(6403-6405)tCc>tTc p.S2135F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2135 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTTGGTAGAGGAAATCTGAGG 0.453000 5 54 0 0 0.000602 0 0 SLC7A6OS 84138 broad.mit.edu 37 16 68336300 68336300 + Silent SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:68336300T>C ENST00000263997.6 - 4 801 c.783A>G c.(781-783)ggA>ggG p.G261G NM_032178.2 NP_115554.2 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite strand 261 protein transport cytoplasm|nucleus breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) AATCCTCATCTCCATCACTGC 0.517000 80 100 0 0 0.003610 0 0 TECTA 7007 broad.mit.edu 37 11 121058640 121058640 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:121058640C>T ENST00000392793.1 + 21 6370 c.6099C>T c.(6097-6099)taC>taT p.Y2033Y TECTA_ENST00000264037.2_Silent_p.Y2033Y O75443 TECTA_HUMAN tectorin alpha 2033 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TAGGGGATTACGACGAAGTTC 0.453000 72 15 0 0 0.003610 0 0 KRT78 196374 broad.mit.edu 37 12 53237950 53237950 + Missense_Mutation SNP G G A rs145166082 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:53237950G>A ENST00000359499.4 - 6 655 c.644C>T c.(643-645)aCg>aTg p.T215M KRT78_ENST00000304620.4_Missense_Mutation_p.T325M Q8N1N4 K2C78_HUMAN keratin 78 325 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CTGGACTTTCGTTTCCTGCAT 0.527000 81 96 0 0 0.003610 0 0 CDHR5 53841 broad.mit.edu 37 11 621106 621106 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:621106C>T ENST00000358353.3 - 8 1085 c.763G>A c.(763-765)Ggg>Agg p.G255R CDHR5_ENST00000349570.7_Missense_Mutation_p.G255R|CDHR5_ENST00000397542.2_Missense_Mutation_p.G255R Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 255 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GGGACAGCCCCGTGGTACTGA 0.652000 24 29 0 0 0.003330 0 0 OR4C6 219432 broad.mit.edu 37 11 55433051 55433051 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:55433051C>T ENST00000314259.3 + 1 438 c.409C>T c.(409-411)Cgg>Tgg p.R137W NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 137 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 CATGAGTCCACGGGTGTGCTG 0.512000 48 18 0 0 0.003610 0 0 PGAP3 93210 broad.mit.edu 37 17 37842182 37842182 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:37842182T>A ENST00000300658.4 - 2 364 c.272A>T c.(271-273)cAt>cTt p.H91L PGAP3_ENST00000429199.2_Missense_Mutation_p.H91L|PGAP3_ENST00000378011.4_Missense_Mutation_p.H91L|PGAP3_ENST00000579146.1_Missense_Mutation_p.H91L NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 91 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 CACCTTGCCATGGAACTGAGG 0.537000 13 17 0 0 0.001855 0 0 SUPT5H 6829 broad.mit.edu 37 19 39964118 39964118 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:39964118C>A ENST00000599117.1 + 26 2816 c.2449C>A c.(2449-2451)Cag>Aag p.Q817K SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q813K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q817K|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q813K|SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q817K O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 817 9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CACTCCTGCCCAGAGTGGGGC 0.622000 29 14 7.26314e-15 4.0326e-14 0.007291 1 0 SERINC1 57515 broad.mit.edu 37 6 122766322 122766322 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:122766322T>C ENST00000368454.1 - 12 1558 c.1229A>G c.(1228-1230)tAt>tGt p.Y410C SERINC1_ENST00000339697.3_Missense_Mutation_p.Y410C Q9NRX5 SERC1_HUMAN serine incorporator 1 410 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) AGAGGGTTCATACCTAAAATT 0.428000 17 15 0 0 0.004007 0 0 MYO5B 4645 broad.mit.edu 37 18 47390534 47390534 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:47390534G>A ENST00000285039.7 - 28 4119 c.3820C>T c.(3820-3822)Cgg>Tgg p.R1274W MYO5B_ENST00000324581.6_Missense_Mutation_p.R415W|MYO5B_ENST00000587895.1_5'UTR NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1274 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GCGAGTCGCCGCTGGTCGGCG 0.617000 23 31 0 0 0.002780 0 0 LAMA2 3908 broad.mit.edu 37 6 129826387 129826387 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:129826387G>C ENST00000421865.2 + 61 8639 c.8590G>C c.(8590-8592)Gat>Cat p.D2864H NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2864 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCTTTATGTAGATGGGGCTTC 0.413000 34 35 0 0 0.002096 0 0 RNF39 80352 broad.mit.edu 37 6 30043353 30043353 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:30043353G>A ENST00000244360.6 - 1 311 c.214C>T c.(214-216)Ccc>Tcc p.P72S RNF39_ENST00000376751.3_Missense_Mutation_p.P72S NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 72 cytoplasm zinc ion binding CCCAGCTCGGGCGCATCCATG 0.711000 10 7 0 0 0.000673 0 0 CCL1 6346 broad.mit.edu 37 17 32688843 32688843 + Missense_Mutation SNP T T G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:32688843T>G ENST00000225842.3 - 2 218 c.149A>C c.(148-150)tAc>tCc p.Y50S NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 50 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) GGTATTTCTGTAACACAGGAT 0.493000 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 110 0 0 0.003610 0 0 BAG3 9531 broad.mit.edu 37 10 121411327 121411327 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:121411327C>T ENST00000369085.3 + 1 446 c.140C>T c.(139-141)aCt>aTt p.T47I NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 47 WW 1. anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) AGCCGCACCACTACGTGGAAC 0.726000 24 17 0 0 0.003954 0 0 KIAA1407 57577 broad.mit.edu 37 3 113721347 113721347 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:113721347G>A ENST00000295878.3 - 12 2163 c.2017C>T c.(2017-2019)Cgg>Tgg p.R673W KIAA1407_ENST00000545063.1_3'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 673 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCCAAGATCCGCCTACATTCA 0.328000 38 8 0 0 0.002522 0 0 FAM84B 157638 broad.mit.edu 37 8 127569333 127569333 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr8:127569333G>A ENST00000304916.3 - 2 757 c.302C>T c.(301-303)tCg>tTg p.S101L RP11-103H7.5_ENST00000524320.1_RNA NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 101 cytoplasm|plasma membrane protein binding lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) CAGCGCCGCCGAGCCCGGCGC 0.657000 31 17 0 0 0.003271 0 0 TMPO 7112 broad.mit.edu 37 12 98928061 98928061 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:98928061G>A ENST00000266732.4 + 4 2264 c.2026G>A c.(2026-2028)Gga>Aga p.G676R TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron NM_003276.2 NP_003267.1 P42167 LAP2B_HUMAN thymopoietin 0 integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CTTTAAAGGTGGAACATTATT 0.368000 24 237 0 0 0.004656 0 0 OR52A5 390054 broad.mit.edu 37 11 5153166 5153166 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:5153166G>A ENST00000307388.1 - 1 706 c.707C>T c.(706-708)gCa>gTa p.A236V NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CTTGAATCGTGCCTCCTTCTG 0.408000 14 35 0 0 0.001855 0 0 FLT1 2321 broad.mit.edu 37 13 28913349 28913349 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:28913349T>C ENST00000282397.4 - 17 2695 c.2444A>G c.(2443-2445)tAt>tGt p.Y815C FLT1_ENST00000540678.1_Missense_Mutation_p.Y33C NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 815 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCTGGCATCATAAGGGAGCCG 0.398000 21 38 0 0 0.003954 0 0 CCDC180 100499483 broad.mit.edu 37 9 100090306 100090306 + Nonsense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:100090306G>T ENST00000375202.2 + 30 3150 c.1798G>T c.(1798-1800)Gaa>Taa p.E600* CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.E597*|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.E600*|CCDC180_ENST00000357054.1_Nonsense_Mutation_p.E739*|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 TCCCAGGTATGAATGTTTTCA 0.517000 86 118 2.61895e-37 1.53906e-36 0.003610 1 0 MYL12B 103910 broad.mit.edu 37 18 3273065 3273065 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:3273065A>G ENST00000581193.1 + 2 552 c.169A>G c.(169-171)Atg>Gtg p.M57V MYL12B_ENST00000400175.5_Missense_Mutation_p.M57V|MYL12B_ENST00000584539.1_Missense_Mutation_p.M57V|MYL12B_ENST00000237500.5_Missense_Mutation_p.M57V NM_001144945.1 NP_001138417.1 O14950 ML12B_HUMAN myosin, light chain 12B, regulatory 57 EF-hand 1. axon guidance|muscle contraction cytosol|myosin complex calcium ion binding breast(1)|large_intestine(1)|lung(2) 4 TTTGCATGATATGCTTGCTTC 0.343000 98 24 0 0 0.003610 0 0 REG3A 5068 broad.mit.edu 37 2 79385863 79385863 + Silent SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:79385863G>T ENST00000393878.1 - 2 363 c.109C>A c.(109-111)Cgg>Agg p.R37R REG3A_ENST00000409839.3_Silent_p.R37R|REG3A_ENST00000305165.2_Silent_p.R37R|AC011754.1_ENST00000415201.1_RNA NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 37 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CAGCGGATCCGTGCAGAGGGC 0.552000 14 28 1.49906e-05 7.88749e-05 0.002450 1 0 ZNF730 100129543 broad.mit.edu 37 19 23329204 23329204 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:23329204A>G ENST00000597761.2 + 4 1557 c.1358A>G c.(1357-1359)gAa>gGa p.E453G NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 AAACCCTATGAATGTGAAGAA 0.393000 24 30 0 0 0.002780 0 0 PRKCB 5579 broad.mit.edu 37 16 24196444 24196444 + Nonsense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:24196444C>T ENST00000303531.7 + 14 1698 c.1546C>T c.(1546-1548)Cag>Tag p.Q516* PRKCB_ENST00000321728.7_Nonsense_Mutation_p.Q516* NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 516 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AATTGCTTATCAGCCCTATGG 0.433000 5 84 0 0 0.001984 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812032 140812032 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr5:140812032C>T ENST00000252085.3 + 1 1848 c.1706C>T c.(1705-1707)aCg>aTg p.T569M PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTCCCCACGGACGGTTCC 0.677000 91 42 0 0 0.003610 0 0 BCAT1 586 broad.mit.edu 37 12 25047338 25047338 + Silent SNP T T G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:25047338T>G ENST00000261192.7 - 3 676 c.150A>C c.(148-150)ggA>ggC p.G50G BCAT1_ENST00000539282.1_Silent_p.G62G|BCAT1_ENST00000342945.5_Silent_p.G26G|BCAT1_ENST00000538118.1_Silent_p.G49G|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Silent_p.G50G NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 50 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) TGAACACAGTTCCAAAAACCA 0.438000 5 15 0 0 0.000602 0 0 GOLGA3 2802 broad.mit.edu 37 12 133384625 133384625 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:133384625T>C ENST00000204726.3 - 5 1588 c.1030A>G c.(1030-1032)Atg>Gtg p.M344V GOLGA3_ENST00000545875.1_Missense_Mutation_p.M344V|GOLGA3_ENST00000456883.2_Missense_Mutation_p.M344V|GOLGA3_ENST00000450791.2_Missense_Mutation_p.M344V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.M344V NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 344 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CCGTTGACCATATAGGGGGTG 0.612000 33 38 0 0 0.002096 0 0 ITGAV 3685 broad.mit.edu 37 2 187506311 187506311 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:187506311C>T ENST00000261023.3 + 12 1429 c.1155C>T c.(1153-1155)ttC>ttT p.F385F ITGAV_ENST00000433736.2_Silent_p.F339F|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.F349F NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 385 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|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|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AGGATGGTTTCAATGGTAAGA 0.463000 59 77 0 0 0.003610 0 0 LAD1 3898 broad.mit.edu 37 1 201356297 201356297 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:201356297G>A ENST00000391967.2 - 3 493 c.192C>T c.(190-192)agC>agT p.S64S LAD1_ENST00000367313.3_Silent_p.S78S NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 64 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CTTCTTCCACGCTCGGTAGTC 0.557000 21 47 0 0 0.003330 0 0 CCAR1 55749 broad.mit.edu 37 10 70514524 70514524 + Silent SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:70514524T>A ENST00000265872.6 + 12 1517 c.1398T>A c.(1396-1398)gcT>gcA p.A466A CCAR1_ENST00000543719.1_Silent_p.A451A|CCAR1_ENST00000535016.1_Silent_p.A451A NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 466 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 AGTCATGTGCTCTTGCTGAGG 0.358000 32 44 0 0 0.004289 0 0 ZNF493 284443 broad.mit.edu 37 19 21606219 21606219 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:21606219C>G ENST00000392288.2 + 4 867 c.758C>G c.(757-759)aCt>aGt p.T253S ZNF493_ENST00000355504.4_Missense_Mutation_p.T125S|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TCAAACCTTACTACACATAAG 0.373000 13 36 0 0 0.001368 0 0 ZNF716 441234 broad.mit.edu 37 7 57529191 57529191 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:57529191C>T ENST00000420713.1 + 4 1136 c.1024C>T c.(1024-1026)Cat>Tat p.H342Y NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 CCTTAAGAAACATAAGATAGT 0.388000 30 16 0 0 0.007291 0 0 LRP1 4035 broad.mit.edu 37 12 57604642 57604642 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:57604642T>C ENST00000243077.3 + 83 13362 c.12896T>C c.(12895-12897)cTg>cCg p.L4299P NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4299 EGF-like 19. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCGGCTTCCTGGGCGACCGC 0.647000 3 36 0 0 0.004672 0 0 GRM3 2913 broad.mit.edu 37 7 86493648 86493648 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:86493648G>A ENST00000361669.2 + 6 3716 c.2617G>A c.(2617-2619)Gac>Aac p.D873N GRM3_ENST00000439827.1_Missense_Mutation_p.R517Q|GRM3_ENST00000546348.1_Missense_Mutation_p.D465N|GRM3_ENST00000536043.1_Missense_Mutation_p.D745N|GRM3_ENST00000394720.2_Missense_Mutation_p.R515Q NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 873 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGAAGTCCTCGACTCCACCAC 0.468000 73 122 0 0 0.003610 0 0 SLC14A2 8170 broad.mit.edu 37 18 43224005 43224005 + Missense_Mutation SNP C C T rs139770269 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:43224005C>T ENST00000255226.6 + 10 2047 c.1231C>T c.(1231-1233)Ctc>Ttc p.L411F SLC14A2_ENST00000586448.1_Missense_Mutation_p.L411F NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 411 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CATCTTCCTGCTCCTGACGAC 0.547000 73 103 0 0 0.003610 0 0 POM121 9883 broad.mit.edu 37 7 72413673 72413673 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:72413673C>T ENST00000395270.1 + 14 3387 c.2346C>T c.(2344-2346)ttC>ttT p.F782F POM121_ENST00000446813.1_Silent_p.F782F|POM121_ENST00000434423.2_Silent_p.F1047F|POM121_ENST00000257622.4_Silent_p.F782F|POM121_ENST00000358357.3_Silent_p.F782F NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1047 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTTCGGCCTTCGGCGCTCCCG 0.647000 7 199 0 0 0.002450 0 0 F5 2153 broad.mit.edu 37 1 169511140 169511140 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:169511140C>T ENST00000367796.3 - 13 3404 c.3203G>A c.(3202-3204)aGa>aAa p.R1068K F5_ENST00000367797.3_Missense_Mutation_p.R1063K P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1063 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATGCTTAAGTCTTCTTTCTGA 0.423000 66 130 0 0 0.003610 0 0 DOCK4 9732 broad.mit.edu 37 7 111540505 111540505 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:111540505C>T ENST00000428084.1 - 15 1677 c.1405G>A c.(1405-1407)Gaa>Aaa p.E469K DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.E469K Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 469 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TTCAGCAGTTCAGACCACCTG 0.498000 14 15 0 0 0.001855 0 0 TTLL4 9654 broad.mit.edu 37 2 219612322 219612322 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:219612322A>G ENST00000392102.1 + 11 2592 c.2252A>G c.(2251-2253)tAt>tGt p.Y751C TTLL4_ENST00000442769.1_Missense_Mutation_p.Y687C|TTLL4_ENST00000457313.1_Missense_Mutation_p.Y586C|TTLL4_ENST00000258398.4_Missense_Mutation_p.Y751C NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 751 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CTATGTAGGTATCTACACAAA 0.478000 54 23 0 0 0.003610 0 0 RBBP6 5930 broad.mit.edu 37 16 24580072 24580072 + Silent SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:24580072A>G ENST00000319715.4 + 17 2493 c.2061A>G c.(2059-2061)aaA>aaG p.K687K RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.K653K NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 687 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TTAGGTCTAAATCTCCCTATA 0.343000 17 37 0 0 0.004007 0 0 RLTPR 146206 broad.mit.edu 37 16 67682065 67682065 + Silent SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:67682065C>A ENST00000334583.6 + 14 1510 c.1182C>A c.(1180-1182)acC>acA p.T394T RLTPR_ENST00000545661.1_Intron NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 394 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GATGGATGACCGGCAGGGCGG 0.687000 10 11 3.07112e-06 1.63492e-05 0.000978 1 0 G6PC2 57818 broad.mit.edu 37 2 169764494 169764494 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:169764494T>A ENST00000375363.3 + 5 1065 c.973T>A c.(973-975)Ttt>Att p.F325I SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 325 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 TGTGCTGTCTTTTTGTAAAAG 0.433000 23 138 0 0 0.002780 0 0 ASTN2 23245 broad.mit.edu 37 9 119976967 119976967 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:119976967C>T ENST00000313400.4 - 3 785 c.685G>A c.(685-687)Gcc>Acc p.A229T ASTN2_ENST00000373996.3_Missense_Mutation_p.A229T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.A229T O75129 ASTN2_HUMAN astrotactin 2 229 A -> V (found in a clear cell renal carcinoma case; somatic mutation). integral to membrane p.A229T(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGTCGCTGGGCGTACAGCGCC 0.607000 31 36 0 0 0.001786 0 0 XIRP2 129446 broad.mit.edu 37 2 168103945 168103945 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:168103945G>C ENST00000409195.1 + 9 6132 c.6043G>C c.(6043-6045)Gag>Cag p.E2015Q XIRP2_ENST00000409273.1_Missense_Mutation_p.E1793Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2015Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1840 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAAAGAACTGAGGTTAATCT 0.438000 24 30 0 0 0.002299 0 0 CD33 945 broad.mit.edu 37 19 51728579 51728579 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:51728579C>T ENST00000262262.4 + 2 164 c.143C>T c.(142-144)cCc>cTc p.P48L CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.P48L NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 48 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CATCCCATACCCTACTACGAC 0.517000 11 66 0 0 0.001368 0 0 GSE1 23199 broad.mit.edu 37 16 85687968 85687968 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:85687968G>T ENST00000253458.7 + 4 687 c.511G>T c.(511-513)Gcc>Tcc p.A171S GSE1_ENST00000393243.1_Missense_Mutation_p.A98S|GSE1_ENST00000405402.2_Missense_Mutation_p.A67S NM_014615.2 NP_055430.1 Gse1 coiled-coil protein AGGGGGACCAGCCATCCCCTC 0.667000 8 17 2.17888e-05 0.000113982 0.006214 1 0 SLCO2A1 6578 broad.mit.edu 37 3 133666147 133666147 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:133666147G>C ENST00000310926.4 - 9 1521 c.1248C>G c.(1246-1248)ttC>ttG p.F416L SLCO2A1_ENST00000493729.1_Missense_Mutation_p.F340L NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 416 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 ATCCCATGAAGAACAAAGGAA 0.493000 36 55 0 0 0.004878 0 0 CD93 22918 broad.mit.edu 37 20 23065386 23065386 + Missense_Mutation SNP C C T rs142122866 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:23065386C>T ENST00000246006.4 - 1 1591 c.1444G>A c.(1444-1446)Gat>Aat p.D482N NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 482 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCCTCCTCATCGGGGGGCCCA 0.657000 35 40 0 0 0.002836 0 0 TTN 7273 broad.mit.edu 37 2 179604933 179604933 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:179604933C>G ENST00000589042.1 - 48 13251 c.13027G>C c.(13027-13029)Gaa>Caa p.E4343Q TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4105Q|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4172Q|TTN_ENST00000460472.2_Missense_Mutation_p.E3980Q|TTN_ENST00000591111.1_Missense_Mutation_p.E4026Q|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4026 Ig-like 23. 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) GAATGCTCTTCTTTGAGCAGT 0.473000 52 72 0 0 0.003610 0 0 PRDM9 56979 broad.mit.edu 37 5 23526620 23526620 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr5:23526620G>A ENST00000296682.3 + 11 1605 c.1423G>A c.(1423-1425)Gcc>Acc p.A475T NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 475 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 GATTTCAAGGGCCTTTTCTAG 0.453000 HNSCC(3;0.000094) 10 23 0 0 0.006214 0 0 TMEM132E 124842 broad.mit.edu 37 17 32953362 32953362 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:32953362G>A ENST00000321639.5 + 2 612 c.284G>A c.(283-285)gGg>gAg p.G95E NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 95 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GTCTCTCTGGGGCCCTTCAGC 0.697000 8 24 0 0 0.004482 0 0 MUC5B 727897 broad.mit.edu 37 11 1261156 1261156 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:1261156G>A ENST00000447027.1 + 28 3778 c.3720G>A c.(3718-3720)gcG>gcA p.A1240A MUC5B_ENST00000529681.1_Silent_p.A1237A Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1237 Cys-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCCCACAGCGGAGAACTGCC 0.657000 6 20 0 0 0.001984 0 0 KIF2B 84643 broad.mit.edu 37 17 51901863 51901863 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:51901863C>A ENST00000268919.4 + 1 1625 c.1469C>A c.(1468-1470)cCt>cAt p.P490H NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 490 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAGAACAAGCCTCACACCCCA 0.527000 15 27 2.31682e-05 0.000120501 0.003163 1 0 SPEN 23013 broad.mit.edu 37 1 16258889 16258889 + Nonsense_Mutation SNP A A T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:16258889A>T ENST00000375759.3 + 11 6358 c.6154A>T c.(6154-6156)Aaa>Taa p.K2052* NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2052 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGGCACAGACAAAAACCCCCC 0.502000 28 10 0 0 0.005443 0 0 SAP130 79595 broad.mit.edu 37 2 128747419 128747419 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:128747419G>C ENST00000357702.5 - 13 1708 c.1577C>G c.(1576-1578)tCt>tGt p.S526C SAP130_ENST00000259235.3_Missense_Mutation_p.S526C|SAP130_ENST00000259234.6_Missense_Mutation_p.S500C NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 526 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TGTGATGGCAGAGTTTGGAGC 0.443000 19 29 0 0 0.001523 0 0 TFEC 22797 broad.mit.edu 37 7 115624462 115624462 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:115624462G>C ENST00000265440.7 - 2 214 c.34C>G c.(34-36)Ctt>Gtt p.L12V TFEC_ENST00000484212.1_Missense_Mutation_p.L102V|TFEC_ENST00000393485.1_Missense_Mutation_p.L12V|TFEC_ENST00000320239.7_Missense_Mutation_p.L12V NM_012252.3 NP_036384.1 O14948 TFEC_HUMAN transcription factor EC 12 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity p.L12V(1) NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) GACCATTTAAGAGTTGGATTG 0.493000 54 108 0 0 0.003610 0 0 POLR2A 5430 broad.mit.edu 37 17 7404147 7404147 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:7404147A>G ENST00000322644.6 + 11 2260 c.1861A>G c.(1861-1863)Atc>Gtc p.I621V NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 621 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) TTACAAGCACATCTCTCCTGG 0.537000 31 87 0 0 0.002096 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362339 105362339 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:105362339T>A ENST00000369774.4 - 15 2912 c.2636A>T c.(2635-2637)tAt>tTt p.Y879F SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.Y746F|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.Y714F|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.Y851F|SH3PXD2A_ENST00000427662.2_Intron Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 879 SH3 4. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) AAACCTCACATACCACCACCC 0.612000 29 34 0 0 0.006320 0 0 NBPF1 55672 broad.mit.edu 37 1 16893786 16893786 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:16893786T>A ENST00000430580.2 - 25 3614 c.2727A>T c.(2725-2727)agA>agT p.R909S NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 909 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TTGAATAACATCTATCCAGTG 0.493000 66 660 0 0 0.003610 0 0 ZC3H13 23091 broad.mit.edu 37 13 46577305 46577305 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:46577305C>G ENST00000242848.4 - 8 1261 c.913G>C c.(913-915)Gaa>Caa p.E305Q ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.E305Q Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 305 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTTTGTCGTTCAAAATCTCGT 0.313000 7 154 0 0 0.003080 0 0 TENM4 26011 broad.mit.edu 37 11 78516412 78516412 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:78516412C>A ENST00000278550.7 - 15 2566 c.2104G>T c.(2104-2106)Ggc>Tgc p.G702C NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GTTCCGTGGCCTGAACACTGG 0.607000 6 3 8.12818e-05 0.000417955 0.001984 1 0 NADK 65220 broad.mit.edu 37 1 1686106 1686106 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:1686106C>T ENST00000344463.4 - 10 1376 c.1155G>A c.(1153-1155)ctG>ctA p.L385L NADK_ENST00000341991.3_Silent_p.L240L|NADK_ENST00000378625.1_Silent_p.L385L|NADK_ENST00000341426.5_Silent_p.L240L|NADK_ENST00000342348.5_Silent_p.L208L O95544 NADK_HUMAN NAD kinase 240 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CCCTGACCTTCAGCCGACTCC 0.647000 60 22 0 0 0.003610 0 0 KAT5 10524 broad.mit.edu 37 11 65482325 65482325 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:65482325G>A ENST00000341318.4 + 8 1207 c.973G>A c.(973-975)Gag>Aag p.E325K KAT5_ENST00000534650.1_Missense_Mutation_p.E81K|KAT5_ENST00000530446.1_Missense_Mutation_p.E273K|KAT5_ENST00000377046.3_Missense_Mutation_p.E292K|KAT5_ENST00000352980.4_Missense_Mutation_p.E240K NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 292 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 TCCAGGCAATGAGATTTACCG 0.537000 36 99 0 0 0.005524 0 0 CADM4 199731 broad.mit.edu 37 19 44127586 44127586 + Missense_Mutation SNP A A T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:44127586A>T ENST00000222374.2 - 9 1111 c.1063T>A c.(1063-1065)Tat>Aat p.Y355N NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 355 cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) TGGGTCAGATAGGAACCTGAG 0.537000 82 20 0 0 0.003610 0 0 IMPG2 50939 broad.mit.edu 37 3 100963028 100963028 + Nonsense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:100963028G>C ENST00000193391.7 - 13 2334 c.2147C>G c.(2146-2148)tCa>tGa p.S716* NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 716 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTTGGTAACTGAGTAATCATC 0.473000 14 7 0 0 0.001855 0 0 TIFA 92610 broad.mit.edu 37 4 113199415 113199415 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr4:113199415G>A ENST00000361717.2 - 2 439 c.158C>T c.(157-159)tCc>tTc p.S53F TIFA_ENST00000500655.2_Missense_Mutation_p.S53F NM_052864.2 NP_443096.1 Q96CG3 TIFA_HUMAN TRAF-interacting protein with forkhead-associated domain 53 FHA. protein binding breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1) 6 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00172) ACAGATGTTGGAATTTCGGCC 0.403000 41 24 0 0 0.001951 0 0 UNC13A 23025 broad.mit.edu 37 19 17763482 17763482 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:17763482C>A ENST00000428389.2 - 13 1660 c.1661G>T c.(1660-1662)cGg>cTg p.R554L UNC13A_ENST00000551649.1_Missense_Mutation_p.R466L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R466L|UNC13A_ENST00000552293.1_Missense_Mutation_p.R466L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R466L|UNC13A_ENST00000519716.2_Missense_Mutation_p.R466L Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 466 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TCCTTCTCCCCGGGCCTGCAG 0.572000 101 198 1.43872e-54 8.6228e-54 0.003610 1 0 PARP6 56965 broad.mit.edu 37 15 72534499 72534499 + Splice_Site SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr15:72534499T>C ENST00000569795.1 - 22 2391 c.1705_splice c.e22+1 p.E568_splice PARP6_ENST00000260376.7_3'UTR|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Splice_Site_p.E568_splice Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 568 PARP catalytic. NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 GCTACCTACCTTCACAAAGTG 0.473000 15 9 0 0 0.002450 0 0 C12orf71 728858 broad.mit.edu 37 12 27234247 27234247 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:27234247T>C ENST00000429849.2 - 2 700 c.670A>G c.(670-672)Atc>Gtc p.I224V NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 224 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 GAGGGGAGGATACGCTGCCTC 0.552000 53 73 0 0 0.003610 0 0 ZNF695 57116 broad.mit.edu 37 1 247150864 247150864 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:247150864T>C ENST00000339986.7 - 4 1100 c.953A>G c.(952-954)cAt>cGt p.H318R ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 318 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTCTCTACTATGAATTCTCTT 0.348000 9 13 0 0 0.000673 0 0 ACPL2 92370 broad.mit.edu 37 3 140998227 140998227 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:140998227C>T ENST00000508812.1 + 3 2126 c.219C>T c.(217-219)gcC>gcT p.A73A ACPL2_ENST00000504264.1_Silent_p.A65A|ACPL2_ENST00000286353.4_Silent_p.A82A|ACPL2_ENST00000393007.1_Silent_p.A66A|ACPL2_ENST00000393010.2_Silent_p.A82A|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Silent_p.A44A Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 82 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 CAGGTCATGCCCCGCATCATT 0.498000 OREG0015847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 145 28 0 0 0.003610 0 0 ZNF683 257101 broad.mit.edu 37 1 26691127 26691127 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:26691127T>C ENST00000436292.1 - 4 1030 c.910A>G c.(910-912)Aca>Gca p.T304A ZNF683_ENST00000349618.3_Missense_Mutation_p.T304A|ZNF683_ENST00000403843.1_Missense_Mutation_p.T304A|ZNF683_ENST00000374204.1_Missense_Mutation_p.T304A Q8IZ20 ZN683_HUMAN zinc finger protein 683 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GCGGTGCCTGTCTGGGAACTC 0.577000 3 130 0 0 0.004672 0 0 GPR112 139378 broad.mit.edu 37 X 135404984 135404984 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chrX:135404984G>C ENST00000394143.1 + 5 409 c.118G>C c.(118-120)Gac>Cac p.D40H GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000370652.1_Missense_Mutation_p.D40H|GPR112_ENST00000394141.1_Intron NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 40 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGGAAGAGGTGACACATATGT 0.388000 38 9 0 0 0.004289 0 0 ITPR2 3709 broad.mit.edu 37 12 26781079 26781079 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:26781079C>T ENST00000381340.3 - 23 3367 c.2951G>A c.(2950-2952)aGa>aAa p.R984K RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 984 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.R984K(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ATAATCCAGTCTGACACTCAG 0.353000 61 119 0 0 0.003610 0 0 PLCB4 5332 broad.mit.edu 37 20 9353027 9353027 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:9353027T>A ENST00000378501.2 + 8 678 c.663T>A c.(661-663)gaT>gaA p.D221E PLCB4_ENST00000378493.1_Missense_Mutation_p.D221E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D221E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D221E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D221E|PLCB4_ENST00000414679.2_Missense_Mutation_p.D221E NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 221 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CTCGGACAGATATAGAAGATC 0.308000 14 36 0 0 0.002450 0 0 SALL1 6299 broad.mit.edu 37 16 51171062 51171062 + Silent SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:51171062G>C ENST00000440970.1 - 3 4076 c.3645C>G c.(3643-3645)acC>acG p.T1215T SALL1_ENST00000541611.1_Silent_p.T135T|SALL1_ENST00000251020.4_Silent_p.T1312T|SALL1_ENST00000566102.1_3'UTR NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1312 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCACGAAGCGGGTGAAGCGGA 0.567000 23 33 0 0 0.001882 0 0 NCAM2 4685 broad.mit.edu 37 21 22849748 22849748 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr21:22849748C>G ENST00000400546.1 + 15 2282 c.2033C>G c.(2032-2034)aCa>aGa p.T678R NCAM2_ENST00000284894.7_Missense_Mutation_p.T536R NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 678 Fibronectin type-III 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TCTGAACCGACAGTTTATGAA 0.368000 16 14 0 0 0.007413 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304740 102304740 + RNA SNP G G C rs7169420 by1000genomes TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr15:102304740G>C ENST00000561463.1 + 0 12786 GAAGACACTCGTGGAGGAGTC 0.612000 5 21 0 0 0.001168 0 0 QTRT1 81890 broad.mit.edu 37 19 10823850 10823850 + Silent SNP C C T rs139740339 byFrequency TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:10823850C>T ENST00000250237.5 + 10 1126 c.1116C>T c.(1114-1116)ttC>ttT p.F372F NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 372 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) TCCCGGACTTCGTGCGGGACT 0.657000 38 48 0 0 0.006230 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48916922 48916922 + Silent SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:48916922C>A ENST00000311378.4 + 2 801 c.273C>A c.(271-273)gcC>gcA p.A91A WFIKKN2_ENST00000426127.1_5'UTR NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 91 WAP. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GCGTGGCGGCCCGCTACATGG 0.582000 14 21 1.49906e-05 7.88749e-05 0.002450 1 0 ZNF675 171392 broad.mit.edu 37 19 23837318 23837318 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:23837318C>A ENST00000359788.4 - 4 585 c.417G>T c.(415-417)atG>atT p.M139I ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 139 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTTTGCTCTGCATAGTTGGTA 0.299000 28 31 6.32553e-13 3.49061e-12 0.004656 1 0 BHLHA15 168620 broad.mit.edu 37 7 97841820 97841820 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:97841820G>A ENST00000314018.2 + 1 255 c.199G>A c.(199-201)Ggt>Agt p.G67S NM_177455.3 NP_803238.1 Q7RTS1 BHA15_HUMAN basic helix-loop-helix family, member a15 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding CTCCGGGCCCGGTGGCCGTCG 0.736000 6 10 0 0 0.001168 0 0 BCL10 8915 broad.mit.edu 37 1 85733454 85733454 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:85733454G>A ENST00000370580.1 - 3 1295 c.558C>T c.(556-558)atC>atT p.I186I NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 186 apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) TTGAAGAGAAGATGGTATTTT 0.458000 T IGH@ MALT 19 10 0 0 0.006122 0 0 GNPAT 8443 broad.mit.edu 37 1 231406686 231406686 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:231406686A>G ENST00000366647.4 + 10 1631 c.1462A>G c.(1462-1464)Att>Gtt p.I488V GNPAT_ENST00000366646.3_Missense_Mutation_p.I427V NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 488 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) GCTGCTCAACATTTTTGTGCG 0.478000 68 92 0 0 0.003610 0 0 TMEM2 23670 broad.mit.edu 37 9 74332991 74332991 + Nonsense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:74332991G>A ENST00000377044.4 - 13 2811 c.2272C>T c.(2272-2274)Cga>Tga p.R758* TMEM2_ENST00000377066.5_Nonsense_Mutation_p.R695* NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 758 integral to membrane p.R758*(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGATGAGGTCGAAATCTAGGG 0.338000 27 37 0 0 0.001786 0 0 ZNF394 84124 broad.mit.edu 37 7 99097557 99097557 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:99097557G>T ENST00000337673.6 - 1 363 c.160C>A c.(160-162)Ccc>Acc p.P54T ZNF394_ENST00000394177.3_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.P54T|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 54 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GAAGCCGCGGGATAGTTGGGC 0.642000 43 50 1.15183e-24 6.59752e-24 0.002222 1 0 ECE2 9718 broad.mit.edu 37 3 183995809 183995809 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:183995809C>A ENST00000402825.3 + 5 929 c.929C>A c.(928-930)gCc>gAc p.A310D ECE2_ENST00000357474.5_Missense_Mutation_p.A238D|ECE2_ENST00000359140.4_Missense_Mutation_p.A163D|ECE2_ENST00000404464.3_Missense_Mutation_p.A192D|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 310 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGCTGGGAGCCCAGCCACTG 0.577000 120 13 1.37143e-49 8.16545e-49 0.003610 1 0 GRM2 2912 broad.mit.edu 37 3 51743449 51743449 + Splice_Site SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:51743449G>A ENST00000395052.3 + 2 684 c.450_splice c.e2+1 p.Q150_splice GRM2_ENST00000442933.2_Splice_Site_p.Q150_splice|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 150 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TCTCCATCCAGGTACGTGGAA 0.582000 6 4 0 0 0.001168 0 0 MANEAL 149175 broad.mit.edu 37 1 38265848 38265848 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:38265848C>G ENST00000373045.6 + 4 1728 c.1347C>G c.(1345-1347)atC>atG p.I449M RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000525897.1_Missense_Mutation_p.I255M|MANEAL_ENST00000329006.5_Missense_Mutation_p.I227M|MANEAL_ENST00000397631.3_3'UTR NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 449 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGCACTTCATCAAAGAGAAGG 0.582000 44 18 0 0 0.003214 0 0 SACS 26278 broad.mit.edu 37 13 23905802 23905802 + Silent SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:23905802T>C ENST00000382298.3 - 10 12801 c.12213A>G c.(12211-12213)gaA>gaG p.E4071E SACS_ENST00000402364.1_Silent_p.E3321E|SACS_ENST00000382292.3_Silent_p.E4071E NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4071 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGCAAAAGTTTCACTTCTGC 0.363000 19 33 0 0 0.001216 0 0 NINL 22981 broad.mit.edu 37 20 25485703 25485703 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:25485703T>C ENST00000278886.6 - 6 602 c.529A>G c.(529-531)Acc>Gcc p.T177A NINL_ENST00000422516.1_Missense_Mutation_p.T177A NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 177 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GAATCCCAGGTCTGCAGCTGT 0.572000 4 9 0 0 0.000248 0 0 FRY 10129 broad.mit.edu 37 13 32798394 32798394 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr13:32798394G>A ENST00000380250.3 + 37 5284 c.4788G>A c.(4786-4788)acG>acA p.T1596T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1596 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTCCCTACACGGGCTGGTTGC 0.498000 42 48 0 0 0.003610 0 0 NIN 51199 broad.mit.edu 37 14 51227017 51227017 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr14:51227017T>A ENST00000245441.5 - 17 2147 c.1957A>T c.(1957-1959)Aac>Tac p.N653Y NIN_ENST00000389868.3_Missense_Mutation_p.N653Y|NIN_ENST00000382041.3_Missense_Mutation_p.N653Y|NIN_ENST00000382043.4_Missense_Mutation_p.N653Y|NIN_ENST00000324330.9_Missense_Mutation_p.N653Y|NIN_ENST00000530997.2_Missense_Mutation_p.N653Y|NIN_ENST00000453196.1_Missense_Mutation_p.N653Y NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 653 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TGCTTCATGTTCTCCTGTGCC 0.468000 T PDGFRB MPD 82 25 0 0 0.003610 0 0 DDX21 9188 broad.mit.edu 37 10 70728814 70728814 + Silent SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:70728814A>G ENST00000354185.4 + 7 1271 c.1173A>G c.(1171-1173)aaA>aaG p.K391K NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 391 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AATACATGAAATCTACATATG 0.363000 34 48 0 0 0.002096 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47243530 47243530 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:47243530C>T ENST00000300404.2 + 9 1248 c.1189C>T c.(1189-1191)Ctc>Ttc p.L397F B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L337F|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L311F NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 397 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity 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) CAAATACGTTCTCTGGGTGGA 0.473000 27 51 0 0 0.007291 0 0 MALAT1 378938 broad.mit.edu 37 11 65272655 65272655 + RNA SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:65272655C>T ENST00000534336.1 + 0 7423 NR_002819.2 TAAGATTTTTCAGGTACCCCT 0.493000 20 54 0 0 0.001523 0 0 NEB 4703 broad.mit.edu 37 2 152534129 152534129 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:152534129C>A ENST00000397345.3 - 34 3926 c.3724G>T c.(3724-3726)Gac>Tac p.D1242Y NEB_ENST00000409198.1_Missense_Mutation_p.D1242Y|NEB_ENST00000603639.1_Missense_Mutation_p.D1242Y|NEB_ENST00000172853.10_Missense_Mutation_p.D1242Y|NEB_ENST00000604864.1_Missense_Mutation_p.D1242Y|NEB_ENST00000427231.2_Missense_Mutation_p.D1242Y NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1242 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACTGGGGAGTCCACAATGCTG 0.443000 35 74 3.90053e-15 2.179e-14 0.002445 1 0 B4GALNT1 2583 broad.mit.edu 37 12 58021951 58021951 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:58021951C>T ENST00000341156.4 - 9 1681 c.1097G>A c.(1096-1098)cGg>cAg p.R366Q B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R311Q NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 366 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CCTCTCCAGCCGCGTCCGCGC 0.652000 24 39 0 0 0.006320 0 0 KMT2D 8085 broad.mit.edu 37 12 49420108 49420108 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:49420108C>T ENST00000301067.7 - 48 15640 c.15641G>A c.(15640-15642)cGc>cAc p.R5214H NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCAATAGATGCGCGTGGCCTC 0.577000 23 30 0 0 0.001882 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72038823 72038823 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:72038823T>A ENST00000378743.3 - 4 1471 c.1113A>T c.(1111-1113)gaA>gaT p.E371D NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 371 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GAAGCTGTAATTCAGATAGTT 0.338000 16 22 0 0 0.003163 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438514 6438514 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:6438514G>A ENST00000162749.2 - 10 1631 c.1332C>T c.(1330-1332)ccC>ccT p.P444P TNFRSF1A_ENST00000540022.1_Silent_p.P401P NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 444 GPAA -> APP (in Ref. 5; AAA36756). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 ggagggcggcggggccgcAAA 0.706000 6 18 0 0 0.001168 0 0 ZNF677 342926 broad.mit.edu 37 19 53740901 53740901 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:53740901G>A ENST00000333952.4 - 5 1244 c.1079C>T c.(1078-1080)tCa>tTa p.S360L ZNF677_ENST00000598513.1_Missense_Mutation_p.S360L Q86XU0 ZN677_HUMAN zinc finger protein 677 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) CCAAAGGTGTGAACGCTGGAT 0.393000 38 13 0 0 0.004289 0 0 LAMB4 22798 broad.mit.edu 37 7 107696109 107696109 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:107696109G>C ENST00000388781.3 - 25 3806 c.3723C>G c.(3721-3723)ttC>ttG p.F1241L LAMB4_ENST00000388780.3_Missense_Mutation_p.F1241L|LAMB4_ENST00000205386.4_Missense_Mutation_p.F1241L NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1241 Domain II. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGACTTTTAAGAATTTCCCAG 0.413000 49 101 0 0 0.003610 0 0 NOX4 50507 broad.mit.edu 37 11 89070672 89070672 + Silent SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:89070672C>T ENST00000535633.1 - 16 1696 c.1386G>A c.(1384-1386)gaG>gaA p.E462E NOX4_ENST00000542487.1_Silent_p.E462E|NOX4_ENST00000413594.2_Silent_p.E507E|NOX4_ENST00000527626.1_Silent_p.E299E|NOX4_ENST00000532825.1_Silent_p.E422E|NOX4_ENST00000527956.1_Silent_p.E462E|NOX4_ENST00000534731.1_Silent_p.E446E|NOX4_ENST00000424319.1_Silent_p.E462E|NOX4_ENST00000528341.1_Silent_p.E461E|NOX4_ENST00000343727.5_Silent_p.E462E|NOX4_ENST00000525196.1_Silent_p.E250E|NOX4_ENST00000531342.1_Silent_p.E139E|NOX4_ENST00000375979.3_Silent_p.E179E|NOX4_ENST00000263317.4_Silent_p.E486E NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 486 Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CAGGTCTGTTCTCTTGCCAAA 0.368000 5 22 0 0 0.000602 0 0 CABS1 85438 broad.mit.edu 37 4 71201610 71201610 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr4:71201610T>C ENST00000273936.4 + 1 913 c.854T>C c.(853-855)cTg>cCg p.L285P NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 285 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GAAGATACTCTGCTAACTGAT 0.418000 19 12 0 0 0.006122 0 0 UBE4A 9354 broad.mit.edu 37 11 118263519 118263519 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:118263519C>T ENST00000252108.3 + 19 3114 c.2983C>T c.(2983-2985)Ccc>Tcc p.P995S UBE4A_ENST00000431736.2_Missense_Mutation_p.P1002S|UBE4A_ENST00000545354.1_Missense_Mutation_p.P467S NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 995 U-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GTTCCTGGATCCCATTATGAG 0.473000 131 26 0 0 0.003610 0 0 GRK5 2869 broad.mit.edu 37 10 121207759 121207759 + Missense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:121207759C>T ENST00000392870.2 + 13 1720 c.1391C>T c.(1390-1392)cCc>cTc p.P464L GRK5_ENST00000369108.3_Missense_Mutation_p.P359L NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 464 AGC-kinase C-terminal. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TTGGACCCTCCCTTCGTTCCA 0.627000 70 100 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179443989 179443989 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:179443989G>T ENST00000589042.1 - 320 67992 c.67768C>A c.(67768-67770)Cct>Act p.P22590T TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13650T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13717T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13525T|TTN_ENST00000591111.1_Missense_Mutation_p.P20949T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20022T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20949 Fibronectin type-III 64. 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) GTTGCTAGAGGATCTTCCCCT 0.433000 39 63 1.58521e-26 9.13765e-26 0.005524 1 0 EXPH5 23086 broad.mit.edu 37 11 108380450 108380450 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:108380450G>A ENST00000265843.4 - 6 5894 c.5784C>T c.(5782-5784)aaC>aaT p.N1928N EXPH5_ENST00000443411.1_Silent_p.N1740N|EXPH5_ENST00000525344.1_Silent_p.N1921N|EXPH5_ENST00000428840.1_Silent_p.N1852N NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1928 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GGTTGGGAGGGTTCCTCAAAT 0.413000 50 13 0 0 0.003610 0 0 MYH4 4622 broad.mit.edu 37 17 10364246 10364246 + Silent SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:10364246T>A ENST00000255381.2 - 12 1244 c.1134A>T c.(1132-1134)ccA>ccT p.P378P CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 378 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CCGTGCCATCTGGCTCTGCCT 0.478000 30 69 0 0 0.002096 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891658 2891658 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:2891658C>A ENST00000254528.3 + 4 1692 c.1533C>A c.(1531-1533)aaC>aaA p.N511K NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 511 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) TGACCAATAACACTGGTGCAG 0.527000 36 52 2.04263e-09 1.1136e-08 0.004289 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971098 21971098 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:21971098C>G ENST00000304494.5 - 2 530 c.260G>C c.(259-261)cGg>cCg p.R87P CDKN2A_ENST00000479692.2_Missense_Mutation_p.R36P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R36P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R36P|CDKN2A_ENST00000579755.1_Silent_p.P101P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R87P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R87P|CDKN2A_ENST00000530628.2_Silent_p.P101P|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R87P|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R36P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R36P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.P142P NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 87 R -> P (in CMM2; impairs the function).|R -> W (in CMM2; partial loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.R87L(1)|p.E61_L94del(1)|p.R87Q(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GAAGCCCTCCCGGGCAGCGTC 0.751000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 3 0 0 0.003080 0 0 MYO3A 53904 broad.mit.edu 37 10 26377179 26377179 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr10:26377179G>T ENST00000265944.5 + 15 1573 c.1407G>T c.(1405-1407)ttG>ttT p.L469F MYO3A_ENST00000543632.1_Missense_Mutation_p.L469F NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 469 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TGAACAATTTGGTAGAAGCCT 0.303000 15 21 3.45872e-05 0.000178865 0.004007 1 0 LRP6 4040 broad.mit.edu 37 12 12278294 12278294 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:12278294C>G ENST00000261349.4 - 21 4461 c.4385G>C c.(4384-4386)cGa>cCa p.R1462P LRP6_ENST00000543091.1_Missense_Mutation_p.R1417P|BCL2L14_ENST00000396369.1_Intron NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1462 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) AACATGGGCTCGGTCATAGGG 0.443000 18 22 0 0 0.006122 0 0 DDX55 57696 broad.mit.edu 37 12 124104018 124104018 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:124104018T>C ENST00000238146.4 + 13 1423 c.1373T>C c.(1372-1374)cTg>cCg p.L458P DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000538744.1_Missense_Mutation_p.L427P|DDX55_ENST00000421670.3_Missense_Mutation_p.L65P NM_020936.1 NP_065987.1 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 458 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) TTTGCCCTGCTGAGGATGCCC 0.438000 49 79 0 0 0.003610 0 0 USP22 23326 broad.mit.edu 37 17 20911270 20911270 + Missense_Mutation SNP G G C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:20911270G>C ENST00000261497.4 - 9 1346 c.1143C>G c.(1141-1143)atC>atG p.I381M USP22_ENST00000537526.2_Missense_Mutation_p.I369M|USP22_ENST00000455117.2_Intron NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 381 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 CGCTGCACTTGATCTTGGCGC 0.488000 33 33 0 0 0.002445 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659293 50659293 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr22:50659293G>A ENST00000439308.2 - 16 3987 c.3495C>T c.(3493-3495)tcC>tcT p.S1165S TUBGCP6_ENST00000248846.5_Silent_p.S1165S|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1165 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding p.S1165S(2) breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCGGACACGTGTC 0.637000 21 76 0 0 0.001523 0 0 VPS13A 23230 broad.mit.edu 37 9 79853254 79853254 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr9:79853254G>T ENST00000360280.3 + 19 2112 c.1852G>T c.(1852-1854)Gca>Tca p.A618S VPS13A_ENST00000376634.4_Missense_Mutation_p.A618S|VPS13A_ENST00000376636.3_Missense_Mutation_p.A618S|VPS13A_ENST00000357409.5_Missense_Mutation_p.A618S NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 618 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACAGCTCACTGCAGCAACTTT 0.348000 29 39 3.48256e-35 2.03337e-34 0.005524 1 0 ROS1 6098 broad.mit.edu 37 6 117658469 117658469 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:117658469G>A ENST00000368508.3 - 31 5312 c.5114C>T c.(5113-5115)tCa>tTa p.S1705L ROS1_ENST00000368507.3_Missense_Mutation_p.S1699L|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1705 Fibronectin type-III 8. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTGGCTGCATGAAGTTTTAAC 0.308000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 30 35 0 0 0.001512 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582515 136582515 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:136582515C>A ENST00000531224.1 - 12 2897 c.2645G>T c.(2644-2646)gGt>gTt p.G882V BCLAF1_ENST00000392348.2_Missense_Mutation_p.G831V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G833V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G880V|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G100V|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G709V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G831V NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 882 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGGACTGCTACCTGATTTTTT 0.438000 55 245 3.4597e-24 1.9692e-23 0.003610 1 0 SALL1 6299 broad.mit.edu 37 16 51174418 51174418 + Missense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:51174418G>A ENST00000440970.1 - 2 1855 c.1424C>T c.(1423-1425)aCg>aTg p.T475M SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T572M|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 572 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGCTCTTCCGTCTTGATGAA 0.602000 17 31 0 0 0.004990 0 0 MEX3D 399664 broad.mit.edu 37 19 1556345 1556345 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:1556345G>A ENST00000402693.4 - 2 1172 c.1173C>T c.(1171-1173)cgC>cgT p.R391R MEX3D_ENST00000388824.6_Silent_p.R391R NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 391 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTGTCCCCGCGGAGGCCGG 0.801000 8 7 0 0 0.004482 0 0 SLC19A2 10560 broad.mit.edu 37 1 169446399 169446399 + Missense_Mutation SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:169446399C>A ENST00000236137.5 - 2 1037 c.801G>T c.(799-801)gaG>gaT p.E267D SLC19A2_ENST00000367802.3_Intron|SLC19A2_ENST00000367804.3_Intron NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 267 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) TTACCGGTTCCTCCACGGGAG 0.478000 56 79 5.73376e-24 3.24316e-23 0.003610 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110457673 110457673 + Missense_Mutation SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr8:110457673G>T ENST00000378402.5 + 38 5679 c.5575G>T c.(5575-5577)Ggc>Tgc p.G1859C NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1859 IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTTCTATCCAGGCAACACTAC 0.502000 HNSCC(38;0.096) 39 7 6.97489e-18 3.92067e-17 0.004878 1 0 TP53 7157 broad.mit.edu 37 17 7578524 7578524 + Nonsense_Mutation SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr17:7578524G>A ENST00000420246.2 - 5 538 c.406C>T c.(406-408)Caa>Taa p.Q136* TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 136 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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) TTGGCCAGTTGGCAAAACATC 0.562000 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) 64 7 0 0 0.003610 0 0 NAA20 51126 broad.mit.edu 37 20 20013295 20013295 + Missense_Mutation SNP A A G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:20013295A>G ENST00000398602.2 + 5 1048 c.413A>G c.(412-414)tAt>tGt p.Y138C NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Intron|NAA20_ENST00000334982.4_Missense_Mutation_p.Y150C NM_181527.3 NP_852668.1 P61599 NAA20_HUMAN N(alpha)-acetyltransferase 20, NatB catalytic subunit 150 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity endometrium(3)|lung(2)|prostate(1) 6 GAGGACGCTTATGGTAAGCTC 0.408000 25 31 0 0 0.003954 0 0 GART 2618 broad.mit.edu 37 21 34877966 34877966 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr21:34877966C>G ENST00000381831.3 - 20 2890 c.2627G>C c.(2626-2628)aGt>aCt p.S876T GART_ENST00000543717.1_Missense_Mutation_p.S428T|GART_ENST00000381815.4_Missense_Mutation_p.S876T|GART_ENST00000381839.3_Missense_Mutation_p.S876T NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 876 GART. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) GTCAATTGCACTGTCAAATTC 0.338000 22 6 0 0 0.001523 0 0 OR4C15 81309 broad.mit.edu 37 11 55322553 55322553 + Silent SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr11:55322553G>T ENST00000314644.2 + 1 771 c.771G>T c.(769-771)ggG>ggT p.G257G NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TCAACAGTGGGTTTATCTGCA 0.463000 HNSCC(20;0.049) 15 22 3.27435e-08 1.77442e-07 0.002450 1 0 ZNF559 84527 broad.mit.edu 37 19 9452988 9452988 + Missense_Mutation SNP T T G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:9452988T>G ENST00000393883.2 + 6 1509 c.861T>G c.(859-861)caT>caG p.H287Q ZNF559_ENST00000587557.1_Missense_Mutation_p.H351Q|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.H207Q|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.H287Q NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TTGCTAAACATATAAGACTTA 0.333000 37 62 0 0 0.001951 0 0 STEAP4 79689 broad.mit.edu 37 7 87910251 87910251 + Nonsense_Mutation SNP C C T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr7:87910251C>T ENST00000380079.4 - 4 1229 c.1128G>A c.(1126-1128)tgG>tgA p.W376* AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Nonsense_Mutation_p.W200*|AC003991.3_ENST00000434733.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 376 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) GGAACTCTCTCCAGTTGACTG 0.378000 45 110 0 0 0.003610 0 0 ATAD2B 54454 broad.mit.edu 37 2 24056881 24056881 + Missense_Mutation SNP C C G TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:24056881C>G ENST00000238789.5 - 14 1979 c.1636G>C c.(1636-1638)Ggt>Cgt p.G546R NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 546 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGTAGCACCAATAACAACA 0.383000 13 24 0 0 0.001855 0 0 TUSC3 7991 broad.mit.edu 37 8 15601046 15601046 + Splice_Site SNP G G T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr8:15601046G>T ENST00000382020.4 + 8 1070 c.e8-1 TUSC3_ENST00000506802.1_Splice_Site|TUSC3_ENST00000503731.1_Splice_Site NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) AACTACTGCAGATGCCGCTAT 0.403000 23 137 5.35356e-11 2.93635e-10 0.002780 1 0 SLC9A2 6549 broad.mit.edu 37 2 103274384 103274384 + Silent SNP C C A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr2:103274384C>A ENST00000233969.2 + 2 793 c.651C>A c.(649-651)gtC>gtA p.V217V NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 217 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TCTCAGCTGTCGATCCTGTGG 0.498000 108 148 3.11409e-38 1.84199e-37 0.003610 1 0 ZC3H4 23211 broad.mit.edu 37 19 47584783 47584783 + Missense_Mutation SNP T T A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:47584783T>A ENST00000253048.5 - 11 1464 c.1427A>T c.(1426-1428)gAg>gTg p.E476V ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 476 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) ATCCAAGAGCTCCCTCGTCTC 0.577000 22 12 0 0 0.001882 0 0 MSH4 4438 broad.mit.edu 37 1 76276476 76276476 + Missense_Mutation SNP T T C TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:76276476T>C ENST00000263187.3 + 4 787 c.683T>C c.(682-684)aTc>aCc p.I228T NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 228 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TTCACTCTGATCACAGAAAAT 0.274000 Mismatch excision repair (MMR) 27 11 0 0 0.007291 0 0 SAMD3 154075 broad.mit.edu 37 6 130505272 130505272 + Silent SNP G G A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:130505272G>A ENST00000532763.1 - 6 753 c.624C>T c.(622-624)ttC>ttT p.F208F SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000368134.2_Silent_p.F210F|SAMD3_ENST00000437477.2_Silent_p.F210F|SAMD3_ENST00000324172.6_Silent_p.F210F|SAMD3_ENST00000457563.2_Silent_p.F234F|SAMD3_ENST00000439090.2_Silent_p.F210F Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 210 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CCTCATCCAGGAAAGGGTGGG 0.468000 26 34 0 0 0.006320 0 0 ENO1 2023 broad.mit.edu 37 1 8926383 8926385 + In_Frame_Del DEL CCA CCA - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:8926383_8926385delCCA ENST00000234590.4 - 7 739_741 c.620_622delTGG c.(619-624)ggg>g p.VG207del NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 207 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) CCTTCATCCCCCACATTGGTGGC 0.552 52 29 --- --- --- --- ZBTB18 10472 broad.mit.edu 37 1 244217124 244217125 + Frame_Shift_Ins INS - - A TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr1:244217124_244217125insA ENST00000358704.4 + 2 197_198 c.48_49insA c.(46-51)aggacafs p.T17fs NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 CAGACCATAGTAGACATTTGCT 0.510 27 38 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF2B5_ENST00000444495.1_Intron NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 7 190 --- --- --- --- USP38 84640 broad.mit.edu 37 4 144106780 144106780 + Frame_Shift_Del DEL G G - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr4:144106780delG ENST00000307017.4 + 1 683 c.177delG c.(175-177)cafs p.Q59fs USP38_ENST00000510377.1_Frame_Shift_Del_p.Q59fs NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 59 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) TCCAGCGGCAGGTGGGGCACC 0.627 17 9 --- --- --- --- HIST1H2BG 8339 broad.mit.edu 37 6 26216820 26216831 + In_Frame_Del DEL CCTTCTTGGAAC CCTTCTTGGAAC - rs143774290 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr6:26216820_26216831delCCTTCTTGGAAC ENST00000244601.3 - 1 41_52 c.41_52delGTTCCAAGAAGG c.(40-54)gct>g p.GSKKA14del NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 14 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.K17E(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) TTGGTCACAGCCTTCTTGGAACCCTTCTTCGG 0.491 32 48 --- --- --- --- MAP3K12 7786 broad.mit.edu 37 12 53875912 53875913 + Frame_Shift_Ins INS - - T TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:53875912_53875913insT ENST00000267079.2 - 14 2518_2519 c.2293_2294insA c.(2293-2295)tgafs p.*765fs MAP3K12_ENST00000547035.1_Frame_Shift_Ins_p.*798fs|MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.*798fs NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 765 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 GGAAGGTTCACTAGCTGTGCCT 0.554 OREG0021873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 93 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400648 78400648 + Frame_Shift_Del DEL C C - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr12:78400648delC ENST00000397909.2 + 8 1503 c.1330delC c.(1330-1332)ctfs p.P444fs NAV3_ENST00000266692.7_Frame_Shift_Del_p.P444fs|NAV3_ENST00000228327.6_Frame_Shift_Del_p.P444fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P444fs Q8IVL0 NAV3_HUMAN neuron navigator 3 444 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAAAGTGTCACCTAAGTTGGC 0.408 HNSCC(70;0.22) 34 68 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23451332 23451332 + Frame_Shift_Del DEL C C - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr14:23451332delC ENST00000262713.2 - 1 519 c.144delG c.(142-144)ggfs p.G48fs RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.G48fs NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 48 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CTCCTCGGGGCCCTGACTTCC 0.682 115 12 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 2 4 --- --- --- --- MBD1 4152 broad.mit.edu 37 18 47800213 47800214 + Frame_Shift_Ins INS - - AC TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr18:47800213_47800214insAC ENST00000591416.1 - 12 1597_1598 c.1166_1167insGT c.(1165-1167)gtgfs p.V389fs MBD1_ENST00000591535.1_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000590208.1_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000398488.1_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000398493.1_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.V358fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.V389fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.V340fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000347968.3_Frame_Shift_Ins_p.V333fs|MBD1_ENST00000585672.1_Frame_Shift_Ins_p.V339fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.V414fs|MBD1_ENST00000457839.2_Frame_Shift_Ins_p.V414fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.V366fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.V440fs Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 389 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 ACTCTGACCAGACACTGGGCAG 0.609 43 89 --- --- --- --- ZNF208 7757 broad.mit.edu 37 19 22154308 22154308 + Frame_Shift_Del DEL T T - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr19:22154308delT ENST00000397126.4 - 4 3676 c.3528delA c.(3526-3528)aafs p.K1176fs ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TAACAAAGCCTTTGCCACATT 0.383 10 66 --- --- --- --- PPP1R3D 5509 broad.mit.edu 37 20 58514574 58514577 + Frame_Shift_Del DEL TTGA TTGA - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr20:58514574_58514577delTTGA ENST00000370996.3 - 1 775_778 c.410_413delTCAA c.(409-414)acfs p.IN137fs FAM217B_ENST00000358293.3_Intron NM_006242.3 NP_006233.1 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 137 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1) 13 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) CAGGTCCGAGTTGATTGCGAGCCG 0.681 22 26 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-CN-6997-01A-11D-2012-08 TCGA-CN-6997-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 11b531cc-d9d9-496a-8448-e654ba71c414 1ec354c8-1eb5-4f54-96ab-3e66d87e167f g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 6 10 --- --- --- ---