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 COL1A2 1278 broad.mit.edu 37 7 94037547 94037547 + Splice_Site SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:94037547C>T ENST00000297268.6 + 14 1163 c.693_splice c.e14+1 p.A231_splice NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 231 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCTGGCCCAGCTGTAAGTGCT 0.398000 HNSCC(75;0.22) 10 55 0 0 1 0 0 TEKT4 150483 broad.mit.edu 37 2 95541471 95541471 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:95541471G>T ENST00000295201.4 + 5 1212 c.1075G>T c.(1075-1077)Gac>Tac p.D359Y AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 359 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GCTGTGCCGTGACGCAGCCCA 0.632000 5 45 0.014758 0.0153781 1 1 0 SMG1 23049 broad.mit.edu 37 16 18860662 18860662 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:18860662C>T ENST00000446231.2 - 36 5912 c.5500G>A c.(5500-5502)Gaa>Aaa p.E1834K SMG1_ENST00000389467.3_Missense_Mutation_p.E1834K Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1834 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ACATACACTTCAGGGTGGTTT 0.403000 5 68 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059351 9059351 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:9059351C>T ENST00000397910.4 - 3 28298 c.28095G>A c.(28093-28095)atG>atA p.M9365I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9367 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGTGATGGCCATGTCTGTTG 0.527000 18 113 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608620 4608620 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:4608620T>C ENST00000312614.4 + 1 600 c.578T>C c.(577-579)gTg>gCg p.V193A NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTTGGATGGTGAGTCATCTA 0.502000 12 137 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131853231 131853231 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:131853231T>A ENST00000359827.3 - 22 5080 c.4118A>T c.(4117-4119)gAg>gTg p.E1373V PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1373V Q9HCM2 PLXA4_HUMAN plexin A4 1373 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 ACGCTGGGACTCAAGCGTGCG 0.597000 12 78 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41468329 41468329 + Splice_Site SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:41468329G>T ENST00000396987.3 + 5 1538 c.611_splice c.e5+1 p.R204_splice RP11-360L9.8_ENST00000581909.1_RNA NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 204 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) CCAAATGGGAGGTGAGTAGAG 0.493000 14 61 4.3838e-07 5.61561e-07 1 1 0 AMN1 196394 broad.mit.edu 37 12 31842036 31842036 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:31842036T>C ENST00000281471.6 - 6 773 c.608A>G c.(607-609)cAt>cGt p.H203R AMN1_ENST00000542781.1_Missense_Mutation_p.H3R|AMN1_ENST00000541931.1_Missense_Mutation_p.H3R|AMN1_ENST00000537562.1_Missense_Mutation_p.H185R|AMN1_ENST00000536761.1_Missense_Mutation_p.H185R NM_001113402.1|NM_001278411.1|NM_001278412.1 NP_001106873.1|NP_001265340.1|NP_001265341.1 Q8IY45 AMN1_HUMAN antagonist of mitotic exit network 1 homolog (S. cerevisiae) 203 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 7 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) ATTTACACAATGTCCCATATG 0.343000 7 33 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175688112 175688112 + Splice_Site SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:175688112A>G ENST00000274093.3 - 3 770 c.e3+1 GLRA3_ENST00000340217.5_Splice_Site NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TAAAATGCCTACCATGGTCGT 0.353000 6 92 0 0 1 0 0 MAN2A1 4124 broad.mit.edu 37 5 109124652 109124652 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:109124652T>C ENST00000261483.4 + 11 2830 c.1778T>C c.(1777-1779)aTg>aCg p.M593T NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 593 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) CATTCGTTAATGGTTTTGGAG 0.303000 4 57 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167248993 167248993 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:167248993C>T ENST00000308378.3 - 9 1377 c.1072G>A c.(1072-1074)Gga>Aga p.G358R WDR49_ENST00000453925.2_Missense_Mutation_p.G422R|WDR49_ENST00000476376.1_Missense_Mutation_p.G183R|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 358 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TTGCGGACTCCCGTGGTAGAA 0.443000 10 86 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116693432 116693432 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:116693432T>A ENST00000357780.3 - 2 233 c.119A>T c.(118-120)aAc>aTc p.N40I NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CTTGGCATTGTTGCTCAGCTG 0.547000 31 174 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704043 52704043 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:52704043G>C ENST00000287727.3 + 4 1126 c.954G>C c.(952-954)ttG>ttC p.L318F ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L318F|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L318F|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.L318F NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 318 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 AGGGGATTTTGATGAAAAAAG 0.473000 5 108 0 0 1 0 0 LOXL1 4016 broad.mit.edu 37 15 74241882 74241882 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:74241882G>A ENST00000261921.7 + 6 2011 c.1685G>A c.(1684-1686)cGc>cAc p.R562H LOXL1_ENST00000567675.1_Intron NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 562 Lysyl-oxidase like. protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 TACACAGGTCGCTACGTTTCT 0.507000 19 90 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71139753 71139753 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:71139753C>A ENST00000283228.2 - 6 1304 c.852G>T c.(850-852)aaG>aaT p.K284N PTPRR_ENST00000378778.1_Missense_Mutation_p.K78N|PTPRR_ENST00000549308.1_Missense_Mutation_p.K39N|PTPRR_ENST00000440835.2_Missense_Mutation_p.K39N|PTPRR_ENST00000342084.4_Missense_Mutation_p.K172N NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 284 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TGTGGACTGTCTTTGCCTCGG 0.502000 13 51 1.49906e-05 1.79424e-05 1 1 0 XDH 7498 broad.mit.edu 37 2 31565098 31565098 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:31565098C>A ENST00000379416.3 - 32 3518 c.3470G>T c.(3469-3471)gGg>gTg p.G1157V NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1157 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GCAAGCCACCCCATAGCTGAA 0.443000 16 100 1.56452e-12 2.31505e-12 1 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51630443 51630443 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:51630443C>T ENST00000440804.3 + 4 972 c.905C>T c.(904-906)cCg>cTg p.P302L SIGLEC9_ENST00000250360.3_Missense_Mutation_p.P302L NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 302 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CCCTCAAACCCGGGGGTGCTG 0.622000 9 75 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49441794 49441794 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:49441794C>T ENST00000301067.7 - 14 4189 c.4190G>A c.(4189-4191)tGt>tAt p.C1397Y NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCACTGCGAACAGGCAAGGAG 0.537000 7 96 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60578833 60578833 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:60578833G>A ENST00000252996.3 - 8 2324 c.2325C>T c.(2323-2325)atC>atT p.I775I TAF4_ENST00000488539.1_5'UTR NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 775 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TGGTGAGCATGATCCGGTTGT 0.677000 8 18 0 0 1 0 0 ZNF570 148268 broad.mit.edu 37 19 37974962 37974962 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:37974962C>G ENST00000330173.1 + 5 967 c.438C>G c.(436-438)ttC>ttG p.F146L ZNF570_ENST00000586475.1_Missense_Mutation_p.F202L|ZNF570_ENST00000388801.3_5'UTR NM_144694.1 NP_653295.1 Q96NI8 ZN570_HUMAN zinc finger protein 570 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGCGTGTTTCAAGGAAGAGA 0.393000 23 200 0 0 1 0 0 HOXA13 3209 broad.mit.edu 37 7 27239055 27239055 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:27239055G>T ENST00000222753.4 - 1 670 c.642C>A c.(640-642)gcC>gcA p.A214A HOTTIP_ENST00000421733.1_RNA NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 214 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 CAGCTGGGCCGGCGGTATCCA 0.706000 T NUP98 AML 6 26 2.0095e-06 2.51187e-06 1 1 0 ZC3H13 23091 broad.mit.edu 37 13 46541881 46541881 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:46541881T>C ENST00000242848.4 - 15 4427 c.4079A>G c.(4078-4080)gAg>gGg p.E1360G ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1360G|ZC3H13_ENST00000378921.2_Missense_Mutation_p.E316G Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1360 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) AATTAGtctctctctttccct 0.443000 17 45 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109806903 109806903 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:109806903T>A ENST00000271332.3 + 10 5266 c.5205T>A c.(5203-5205)caT>caA p.H1735Q NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1735 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCCGGCTGCATGGTCTGCACC 0.657000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 84 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20494238 20494238 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:20494238C>A ENST00000361078.2 - 8 1073 c.1051G>T c.(1051-1053)Ggg>Tgg p.G351W PUM2_ENST00000338086.5_Missense_Mutation_p.G351W|PUM2_ENST00000403432.1_Missense_Mutation_p.G351W|PUM2_ENST00000536417.1_Missense_Mutation_p.G295W|PUM2_ENST00000319801.5_Missense_Mutation_p.G351W Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 351 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGATACACCCCCCATGGAACG 0.507000 25 140 7.07758e-08 9.41652e-08 1 1 0 CNGA4 1262 broad.mit.edu 37 11 6261342 6261342 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:6261342G>T ENST00000379936.2 + 4 433 c.318G>T c.(316-318)tcG>tcT p.S106S CNGA4_ENST00000533426.1_Intron NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 106 response to stimulus|sensory perception of smell cAMP binding p.S106S(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTAGGATCTCGAGTCGCTACG 0.602000 15 119 2.48551e-13 3.72225e-13 1 1 0 LOXL1 4016 broad.mit.edu 37 15 74241873 74241873 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:74241873A>T ENST00000261921.7 + 6 2002 c.1676A>T c.(1675-1677)tAc>tTc p.Y559F LOXL1_ENST00000567675.1_3'UTR NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 559 Lysyl-oxidase like. protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 AACATTCACTACACAGGTCGC 0.498000 6 116 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67694252 67694252 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:67694252C>A ENST00000219251.8 - 1 461 c.130G>T c.(130-132)Ggt>Tgt p.G44C ACD_ENST00000393919.4_Missense_Mutation_p.G44C NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 44 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCACGTACACCCCGCGCCTGC 0.736000 5 11 0.184627 0.188271 1 1 0 HMCN1 83872 broad.mit.edu 37 1 185985327 185985327 + Missense_Mutation SNP G G T rs146790750 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:185985327G>T ENST00000271588.4 + 32 5376 c.5147G>T c.(5146-5148)aGt>aTt p.S1716I HMCN1_ENST00000367492.2_Missense_Mutation_p.S1716I NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1716 Ig-like C2-type 14. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GTGGCTACCAGTGTGGCAGGA 0.423000 14 89 4.3838e-07 5.61561e-07 1 1 0 TRIM60 166655 broad.mit.edu 37 4 165961387 165961387 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:165961387G>T ENST00000512596.1 + 3 379 c.163G>T c.(163-165)Gtc>Ttc p.V55F TRIM60_ENST00000341062.5_Missense_Mutation_p.V55F|TRIM60_ENST00000508504.1_Missense_Mutation_p.V55F NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 55 intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TCCCTGTCCTGTCTGCCGTTT 0.483000 13 95 1.61879e-10 2.33407e-10 1 1 0 OR7A10 390892 broad.mit.edu 37 19 14952492 14952492 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:14952492C>A ENST00000248058.1 - 1 197 c.198G>T c.(196-198)ctG>ctT p.L66L NM_001005190.1 NP_001005190.1 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, member 10 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) CTACGAAGGACAGGTTGGAGA 0.527000 14 69 3.52763e-06 4.32239e-06 1 1 0 ZFPM2 23414 broad.mit.edu 37 8 106814031 106814031 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:106814031G>A ENST00000407775.2 + 8 1971 c.1721G>A c.(1720-1722)cGa>cAa p.R574Q RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R442Q|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R305Q|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R442Q|ZFPM2_ENST00000522296.1_3'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 574 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.R574Q(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGCAGCAGCCGATGGCAGCAG 0.448000 15 216 0 0 1 0 0 OR6C74 254783 broad.mit.edu 37 12 55641974 55641974 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:55641974C>A ENST00000343870.4 + 1 993 c.903C>A c.(901-903)caC>caA p.H301Q NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTTTTAAGCACACAGTCAAAA 0.318000 4 64 1 1 1 1 0 ITGB2 3689 broad.mit.edu 37 21 46321536 46321536 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr21:46321536G>T ENST00000397850.2 - 7 1064 c.612C>A c.(610-612)ttC>ttA p.F204L ITGB2_ENST00000397852.1_Missense_Mutation_p.F204L|ITGB2_ENST00000397857.1_Missense_Mutation_p.F204L|ITGB2_ENST00000397854.3_Missense_Mutation_p.F147L|ITGB2_ENST00000355153.4_Missense_Mutation_p.F204L|ITGB2_ENST00000302347.5_Missense_Mutation_p.F204L P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 204 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GCACGTGCCTGAAGGCAAACG 0.587000 9 119 2.74318e-10 3.94611e-10 1 1 0 UBAP2L 9898 broad.mit.edu 37 1 154233385 154233385 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:154233385G>T ENST00000428931.1 + 23 2763 c.2596G>T c.(2596-2598)Ggc>Tgc p.G866C UBAP2L_ENST00000271877.7_Missense_Mutation_p.G877C|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G866C|UBAP2L_ENST00000343815.6_Missense_Mutation_p.G866C NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 866 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CACAAAGTTCGGCCGTGGGGA 0.532000 22 50 1.28384e-07 1.67928e-07 1 1 0 ACAP2 23527 broad.mit.edu 37 3 195015484 195015484 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:195015484G>T ENST00000326793.6 - 18 1959 c.1729C>A c.(1729-1731)Ccc>Acc p.P577T NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 577 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 ACCGTGGAGGGTAAAGATTCT 0.368000 6 63 5.18039e-06 6.32252e-06 1 1 0 HHLA2 11148 broad.mit.edu 37 3 108072463 108072463 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:108072463A>G ENST00000357759.5 + 4 668 c.254A>G c.(253-255)gAt>gGt p.D85G HHLA2_ENST00000467761.1_Missense_Mutation_p.D85G|HHLA2_ENST00000491820.1_Missense_Mutation_p.D85G|HHLA2_ENST00000489514.2_Missense_Mutation_p.D85G|HHLA2_ENST00000467562.1_Intron NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 85 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 GAAAGCCAAGATCCCAGATAT 0.408000 7 56 0 0 1 0 0 GPM6A 2823 broad.mit.edu 37 4 176594895 176594895 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:176594895C>A ENST00000280187.7 - 4 368 c.323G>T c.(322-324)gGg>gTg p.G108V GPM6A_ENST00000506894.1_Missense_Mutation_p.G97V|GPM6A_ENST00000393658.2_Missense_Mutation_p.G108V|GPM6A_ENST00000515090.1_Missense_Mutation_p.G101V NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 108 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) TTTGATGGCCCCAGTTGTGAA 0.433000 4 50 0.00024832 0.000282492 1 1 0 RANBP2 5903 broad.mit.edu 37 2 109384162 109384162 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:109384162C>G ENST00000283195.6 + 20 7293 c.7167C>G c.(7165-7167)gaC>gaG p.D2389E NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2389 RanBD1 3. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TAACTCCAGACATGACTTTGC 0.348000 33 499 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152558015 152558015 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:152558015G>A ENST00000367255.5 - 109 20737 c.20136C>T c.(20134-20136)atC>atT p.I6712I SYNE1_ENST00000265368.4_Silent_p.I6712I|SYNE1_ENST00000356820.4_Silent_p.I1236I|SYNE1_ENST00000423061.1_Silent_p.I6641I|SYNE1_ENST00000448038.1_Silent_p.I6641I|SYNE1_ENST00000341594.5_Silent_p.I6324I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6712 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCACGCTTGGGATGCTGCTTT 0.522000 HNSCC(10;0.0054) 22 41 0 0 1 0 0 BAK1 578 broad.mit.edu 37 6 33543631 33543631 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:33543631C>A ENST00000374467.3 - 3 393 c.145G>T c.(145-147)Gct>Tct p.A49S BAK1_ENST00000442998.2_Missense_Mutation_p.A49S|BAK1_ENST00000360661.5_Missense_Mutation_p.A49S NM_001188.3 NP_001179.1 Q16611 BAK_HUMAN BCL2-antagonist/killer 1 49 activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria integral to mitochondrial outer membrane|pore complex metal ion binding|protein heterodimerization activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 ACCCCTTCAGCCTCCTGTTCC 0.587000 28 73 5.61819e-17 8.774e-17 1 1 0 EXOC3 11336 broad.mit.edu 37 5 458016 458016 + Splice_Site SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:458016C>G ENST00000512944.1 + 6 1355 c.1164_splice c.e6-1 p.S389_splice EXOC3_ENST00000315013.5_Splice_Site_p.S389_splice NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 400 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TTTCTTTAGTCAAACATCATC 0.517000 3 15 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87737565 87737565 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:87737565C>T ENST00000398204.4 + 5 788 c.465C>T c.(463-465)caC>caT p.H155H ADAM22_ENST00000439864.1_Silent_p.H155H|ADAM22_ENST00000315984.7_Silent_p.H155H|ADAM22_ENST00000265727.7_Silent_p.H155H|ADAM22_ENST00000398209.3_Silent_p.H155H|ADAM22_ENST00000398201.4_Silent_p.H155H NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 155 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CAACATGCCACGGACTTCAGT 0.343000 11 60 0 0 1 0 0 RERGL 79785 broad.mit.edu 37 12 18234245 18234245 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:18234245G>C ENST00000229002.2 - 6 704 c.498C>G c.(496-498)atC>atG p.I166M RERGL_ENST00000538724.1_Missense_Mutation_p.I165M NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 166 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 TGATAATTCTGATAAACATCA 0.418000 7 82 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C A rs121912656 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:7577547C>A ENST00000420246.2 - 7 866 c.734G>T c.(733-735)gGc>gTc p.G245V TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582000 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) 14 50 0.0167234 0.0173677 1 1 0 POC1A 25886 broad.mit.edu 37 3 52183873 52183873 + Silent SNP G G A rs145976901 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:52183873G>A ENST00000394970.2 - 3 551 c.234C>T c.(232-234)tcC>tcT p.S78S POC1A_ENST00000474012.1_Silent_p.S40S|POC1A_ENST00000296484.2_Silent_p.S78S NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 78 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 CTCGGGAGCCGGAAGCAAGCA 0.592000 7 110 0 0 1 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152226737 152226737 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:152226737G>T ENST00000243347.3 + 4 673 c.598G>T c.(598-600)Gat>Tat p.D200Y NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 200 CUB. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) TGACAGTTACGATGATGTCCA 0.398000 16 176 9.16793e-09 1.25201e-08 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345052 33345052 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:33345052C>A ENST00000374796.2 - 8 4069 c.1499G>T c.(1498-1500)gGg>gTg p.G500V NCOA6_ENST00000359003.2_Missense_Mutation_p.G500V Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 500 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ACTCTGTGGCCCCTGGTTTGG 0.478000 29 111 7.11191e-15 1.08605e-14 1 1 0 RNF10 9921 broad.mit.edu 37 12 121001395 121001395 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:121001395C>A ENST00000325954.4 + 9 1961 c.1500C>A c.(1498-1500)ctC>ctA p.L500L RNF10_ENST00000413266.2_Silent_p.L505L NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 500 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCACACGCCTCAGCAGCTCTC 0.537000 4 47 0.00024832 0.000282492 1 1 0 C3orf17 25871 broad.mit.edu 37 3 112736346 112736346 + Nonsense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:112736346G>T ENST00000314400.5 - 2 401 c.210C>A c.(208-210)taC>taA p.Y70* C3orf17_ENST00000383675.2_Nonsense_Mutation_p.Y70*|C3orf17_ENST00000393857.2_Intron NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 70 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TGTGATTGCTGTAAAGGACTG 0.468000 10 79 0.00621372 0.00661942 1 1 0 OR4K5 79317 broad.mit.edu 37 14 20389554 20389554 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr14:20389554C>T ENST00000315915.4 + 1 814 c.789C>T c.(787-789)acC>acT p.T263T NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCCCTTTACCATCTCTCCTT 0.408000 24 343 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112178169 112178169 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:112178169G>T ENST00000457016.1 + 16 7258 c.6878G>T c.(6877-6879)gGt>gTt p.G2293V CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.G2293V|APC_ENST00000257430.4_Missense_Mutation_p.G2293V P25054 APC_HUMAN adenomatous polyposis coli 2293 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCCCAAATAGGTGGGTCAAGT 0.498000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 9 55 0.000274275 0.000310879 1 1 0 OR2T33 391195 broad.mit.edu 37 1 248436290 248436290 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:248436290T>A ENST00000318021.2 - 1 848 c.827A>T c.(826-828)tAt>tTt p.Y276F NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GAACATAGTATAGAAGGCTGA 0.478000 14 224 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20597334 20597334 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:20597334C>A ENST00000504154.1 + 31 3449 c.3197C>A c.(3196-3198)cCa>cAa p.P1066Q SLIT2_ENST00000503823.1_Missense_Mutation_p.P1058Q|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1062Q|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1079Q NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1066 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GACTGCACACCAGGGTACGTA 0.453000 23 188 3.28513e-13 4.8961e-13 1 1 0 ENAM 10117 broad.mit.edu 37 4 71508511 71508511 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:71508511C>T ENST00000396073.3 + 9 1649 c.1368C>T c.(1366-1368)agC>agT p.S456S ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 456 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATCCAACCAGCCCCTGGAGAA 0.393000 5 61 0 0 1 0 0 NBPF18P 441908 broad.mit.edu 37 1 151993707 151993707 + RNA SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:151993707C>G ENST00000432386.1 + 0 2542 NR_103561.1 GAAGAGATTACAGGAAGGGAG 0.498000 8 109 0 0 1 0 0 CHPF2 54480 broad.mit.edu 37 7 150934943 150934943 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:150934943G>A ENST00000035307.2 + 4 3008 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K CHPF2_ENST00000495645.1_Missense_Mutation_p.E491K NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 499 Poly-Ala. Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 CCTGGTGGCTGAAGCTGCTGC 0.627000 11 50 0 0 1 0 0 C2orf15 150590 broad.mit.edu 37 2 99767207 99767207 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:99767207G>C ENST00000302513.2 + 4 924 c.288G>C c.(286-288)ggG>ggC p.G96G C2orf15_ENST00000409684.1_Silent_p.G96G|TSGA10_ENST00000393483.3_Intron NM_144706.2 NP_653307.1 Q8WU43 CB015_HUMAN chromosome 2 open reading frame 15 96 autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1) 6 GGATTGAAGGGACTGGCACAG 0.388000 10 67 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129165 83129165 + Silent SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:83129165T>A ENST00000329312.4 + 4 1486 c.1449T>A c.(1447-1449)tcT>tcA p.S483S NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 483 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 ATGCAGAATCTACTGAAATGG 0.348000 6 21 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811465 140811465 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:140811465C>A ENST00000509479.2 - 2 1981 c.1125G>T c.(1123-1125)caG>caT p.Q375H MAML3_ENST00000327122.5_Missense_Mutation_p.Q219H NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 375 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) AAGGCCTCGCCTGGGGAGATC 0.592000 7 98 1.06961e-07 1.41399e-07 1 1 0 ZNF25 219749 broad.mit.edu 37 10 38246392 38246392 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:38246392T>C ENST00000302609.7 - 3 310 c.98A>G c.(97-99)tAt>tGt p.Y33C ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 33 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) CACATCCTTATACAGAGTCCT 0.433000 7 129 0 0 1 0 0 ATF2 1386 broad.mit.edu 37 2 175962273 175962273 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:175962273C>T ENST00000264110.2 - 11 1175 c.877G>A c.(877-879)Gat>Aat p.D293N ATF2_ENST00000392543.2_Intron|ATF2_ENST00000538946.1_Missense_Mutation_p.D275N|ATF2_ENST00000409437.1_Missense_Mutation_p.D177N|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Missense_Mutation_p.D235N|ATF2_ENST00000426833.3_Missense_Mutation_p.D275N|ATF2_ENST00000409635.1_Missense_Mutation_p.D235N|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.D293N NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 293 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) TTGACAGTATCACCATTGGTA 0.423000 5 99 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90459321 90459321 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:90459321G>A ENST00000369393.3 - 25 3671 c.3556C>T c.(3556-3558)Cac>Tac p.H1186Y MDN1_ENST00000428876.1_Missense_Mutation_p.H1186Y Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1186 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AACCGAGGGTGTGCTTTAACA 0.423000 49 141 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130785467 130785467 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:130785467T>C ENST00000265909.4 - 1 937 c.368A>G c.(367-369)cAg>cGg p.Q123R SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.Q123R|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 123 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GGCTGGCTCCTGGCTCACGGA 0.537000 13 65 0 0 1 0 0 CGB7 94027 broad.mit.edu 37 19 49557613 49557613 + Missense_Mutation SNP G G A rs141827342 byFrequency TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:49557613G>A ENST00000597853.1 - 5 3304 c.433C>T c.(433-435)Ccc>Tcc p.P145S CGB7_ENST00000596965.1_Missense_Mutation_p.P145S|CGB7_ENST00000377280.3_Missense_Mutation_p.P145S|CGB7_ENST00000356213.4_Missense_Mutation_p.P143S chorionic gonadotropin, beta polypeptide 7 lung(3)|urinary_tract(2) 5 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) AGGCTGGGGGGAGGGGCCTTT 0.637000 17 86 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343371 130343371 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:130343371C>G ENST00000299164.2 + 8 2508 c.2508C>G c.(2506-2508)gaC>gaG p.D836E NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 836 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) AGCAGCCGGACGACAGGCCCC 0.706000 15 116 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56363625 56363625 + Nonsense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:56363625C>G ENST00000348428.3 + 3 662 c.404C>G c.(403-405)tCa>tGa p.S135* RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Nonsense_Mutation_p.S135* NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 135 Ig-like C2-type 1. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 AACCCAGAGTCAAAGGCAGTC 0.333000 T BIRC3 MALT 4 24 0 0 1 0 0 NANOS2 339345 broad.mit.edu 37 19 46417799 46417799 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:46417799C>T ENST00000341294.2 - 1 237 c.153G>A c.(151-153)ggG>ggA p.G51G NM_001029861.2 NP_001025032.1 P60321 NANO2_HUMAN nanos homolog 2 (Drosophila) 51 germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|perinuclear region of cytoplasm RNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 6 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231) CCCCTGGCGCCCCCAGCCCCT 0.667000 13 50 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6943263 6943263 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:6943263C>A ENST00000389658.3 - 62 9076 c.8983G>T c.(8983-8985)Ggg>Tgg p.G2995W NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2995 Laminin G-like 5. 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 p.G2995W(1) 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) ACTGCGTTCCCGTCAACAATC 0.493000 28 112 7.41945e-09 1.01547e-08 1 1 0 CELF3 11189 broad.mit.edu 37 1 151681753 151681753 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:151681753G>T ENST00000290583.4 - 4 1142 c.349C>A c.(349-351)Ccc>Acc p.P117T CELF3_ENST00000290585.4_Missense_Mutation_p.P117T|CELF3_ENST00000470688.1_5'UTR NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 117 RRM 2. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 GTCCCGAAGGGCTCAAACATC 0.617000 13 269 9.31168e-06 1.12759e-05 1 1 0 KCNAB1 7881 broad.mit.edu 37 3 155861016 155861016 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:155861016G>T ENST00000471742.1 + 1 266 c.49G>T c.(49-51)Ggt>Tgt p.G17C KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron NM_003471.3 NP_003462.2 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 308 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CCCCAAGCTGGGTCTGCCAAA 0.507000 5 42 0.014758 0.0153781 1 1 0 NEB 4703 broad.mit.edu 37 2 152553972 152553972 + Splice_Site SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:152553972C>T ENST00000397345.3 - 15 1460 c.e15-1 NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 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) TATATTTTTTCTGCAAGACAA 0.333000 8 75 0 0 1 0 0 HNRNPF 3185 broad.mit.edu 37 10 43883130 43883130 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:43883130T>G ENST00000443950.2 - 3 689 c.203A>C c.(202-204)aAa>aCa p.K68T HNRNPF_ENST00000356053.3_Missense_Mutation_p.K68T|HNRNPF_ENST00000544000.1_Missense_Mutation_p.K68T|HNRNPF_ENST00000357065.4_Missense_Mutation_p.K68T|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000337970.3_Missense_Mutation_p.K68T NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 68 RRM 1. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 CAGGGCCATTTTTACATCATC 0.488000 8 94 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122125321 122125321 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:122125321G>C ENST00000263710.4 - 35 4118 c.3729C>G c.(3727-3729)aaC>aaG p.N1243K CLASP1_ENST00000541859.1_Missense_Mutation_p.N960K|CLASP1_ENST00000397587.3_Missense_Mutation_p.N1183K|CLASP1_ENST00000545861.1_Missense_Mutation_p.N950K|CLASP1_ENST00000455322.2_Missense_Mutation_p.N1199K|CLASP1_ENST00000409078.3_Missense_Mutation_p.N1176K|CLASP1_ENST00000541377.1_Missense_Mutation_p.N1182K NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1243 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) GTGAGGTCTTGTTATCCAGAG 0.657000 5 69 0 0 1 0 0 BCL2L14 79370 broad.mit.edu 37 12 12240275 12240275 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:12240275T>G ENST00000266434.4 + 3 757 c.562T>G c.(562-564)Ttc>Gtc p.F188V BCL2L14_ENST00000589718.1_Missense_Mutation_p.F188V|BCL2L14_ENST00000396367.1_Missense_Mutation_p.F188V|BCL2L14_ENST00000586576.1_Missense_Mutation_p.F221V|BCL2L14_ENST00000308721.5_Missense_Mutation_p.F188V|BCL2L14_ENST00000396369.1_Missense_Mutation_p.F188V NM_030766.1 NP_110393.1 Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) 188 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) GGGTCTCTCCTTCCAGCTCCA 0.527000 9 123 0 0 1 0 0 VPS33A 65082 broad.mit.edu 37 12 122723166 122723166 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:122723166C>T ENST00000267199.4 - 10 1382 c.1270G>A c.(1270-1272)Gtt>Att p.V424I RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.V385I NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 424 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) TAATCCAAAACTTTTTGTTTG 0.363000 11 115 0 0 1 0 0 KIAA1033 23325 broad.mit.edu 37 12 105546208 105546208 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:105546208A>T ENST00000332180.5 + 26 2824 c.2737A>T c.(2737-2739)Agg>Tgg p.R913W NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 913 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TGATCAATTCAGGCAACTCAT 0.373000 6 65 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44663642 44663642 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:44663642G>T ENST00000454036.1 + 2 253 c.177G>T c.(175-177)aaG>aaT p.K59N SLC12A5_ENST00000243964.3_Missense_Mutation_p.K36N|SLC12A5_ENST00000539566.1_Missense_Mutation_p.K36N|SLC12A5_ENST00000372315.1_Missense_Mutation_p.K36N NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 59 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) ACACAGAGAAGGGAAAGGAGT 0.522000 25 116 2.27525e-19 3.60782e-19 1 1 0 SCN10A 6336 broad.mit.edu 37 3 38797308 38797308 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:38797308G>A ENST00000449082.2 - 10 1431 c.1432C>T c.(1432-1434)Cgc>Tgc p.R478C NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 478 sensory perception voltage-gated sodium channel complex p.R478S(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGATCAGAGCGGGGTGATTTG 0.488000 25 166 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10443779 10443779 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:10443779T>G ENST00000397077.1 - 6 1226 c.651A>C c.(649-651)aaA>aaC p.K217N ATP2B2_ENST00000352432.4_Missense_Mutation_p.K217N|ATP2B2_ENST00000383800.4_Missense_Mutation_p.K217N|ATP2B2_ENST00000343816.4_Missense_Mutation_p.K217N|ATP2B2_ENST00000360273.2_Missense_Mutation_p.K217N Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 217 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ACTTACCATATTTGACCTGGG 0.577000 32 164 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78338687 78338687 + Splice_Site SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:78338687A>T ENST00000370791.3 + 15 1595 c.e15-1 FAM73A_ENST00000443751.2_Splice_Site_p.Q484_splice NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) ACTTCCCAGCAGATCCCAGAT 0.408000 22 179 0 0 1 0 0 OTP 23440 broad.mit.edu 37 5 76932725 76932725 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:76932725A>T ENST00000306422.3 - 2 1506 c.368T>A c.(367-369)tTc>tAc p.F123Y OTP_ENST00000515716.1_5'UTR NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 123 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) AGTCTTGGCGAAGCTCCTCTC 0.637000 31 130 0 0 1 0 0 ZNF362 149076 broad.mit.edu 37 1 33760842 33760842 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:33760842C>T ENST00000539719.1 + 8 1252 c.1082C>T c.(1081-1083)tCg>tTg p.S361L ZNF362_ENST00000373428.5_Missense_Mutation_p.S361L NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ATCCACCTCTCGGCCCACGCC 0.637000 OREG0013342 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 37 0 0 1 0 0 F2R 2149 broad.mit.edu 37 5 76028663 76028663 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:76028663G>T ENST00000319211.4 + 2 878 c.613G>T c.(613-615)Gtg>Ttg p.V205L NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 205 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) TCTGGCTGTGGTGTATCCCAT 0.527000 32 141 2.47316e-13 3.72174e-13 1 1 0 SMC4 10051 broad.mit.edu 37 3 160134080 160134080 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:160134080C>A ENST00000357388.3 + 10 1765 c.1314C>A c.(1312-1314)atC>atA p.I438I RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.I438I|SMC4_ENST00000360111.2_Silent_p.I438I|SMC4_ENST00000344722.5_Silent_p.I438I|SMC4_ENST00000469762.1_Silent_p.I413I NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 438 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTAACAATATCATTAATGAAA 0.313000 15 70 0.000308642 0.000349193 1 1 0 CHD6 84181 broad.mit.edu 37 20 40112039 40112039 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:40112039G>C ENST00000373233.3 - 16 2555 c.2378C>G c.(2377-2379)cCt>cGt p.P793R CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 793 Helicase C-terminal. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AATCAGCTTAGGGAGTAGTTT 0.498000 8 52 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51488283 51488283 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:51488283A>G ENST00000340438.4 + 1 1803 c.1561A>G c.(1561-1563)Acg>Gcg p.T521A NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 521 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) TTCTGGACGCACGTTTGATGT 0.408000 17 47 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150742328 150742328 + Silent SNP C C G rs144165657 byFrequency TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:150742328C>G ENST00000358849.4 + 16 2142 c.2049C>G c.(2047-2049)ggC>ggG p.G683G ABCB8_ENST00000297504.6_Silent_p.G700G|ABCB8_ENST00000542328.1_Silent_p.G595G|ABCB8_ENST00000498578.1_Silent_p.G658G|ABCB8_ENST00000356058.4_3'UTR NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 700 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGAAGAAAGGCGGGCTATACG 0.632000 6 68 0 0 1 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128201249 128201249 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:128201249C>A ENST00000265960.3 - 12 1818 c.1486G>T c.(1486-1488)Gac>Tac p.D496Y MAPKAP1_ENST00000373503.3_Missense_Mutation_p.D304Y|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.D496Y|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.D304Y|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.D460Y|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.D449Y|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.D209Y NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 496 Interaction with ATF2. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 GCAAAGTAGTCAGCCCGGGCA 0.552000 16 94 3.45872e-05 4.11594e-05 1 1 0 ESPNL 339768 broad.mit.edu 37 2 239040097 239040097 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:239040097C>T ENST00000343063.3 + 9 3005 c.2742C>T c.(2740-2742)gcC>gcT p.A914A ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Silent_p.A546A|ESPNL_ENST00000409169.1_Silent_p.A870A NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 914 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GCCGCCGGGCCTGGACCGACG 0.692000 4 23 0 0 1 0 0 CHI3L2 1117 broad.mit.edu 37 1 111773562 111773562 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:111773562C>A ENST00000445067.2 + 5 1040 c.269C>A c.(268-270)aCc>aAc p.T90N CHI3L2_ENST00000369744.2_Missense_Mutation_p.T80N|CHI3L2_ENST00000524472.1_Missense_Mutation_p.T11N|CHI3L2_ENST00000369748.4_Missense_Mutation_p.T90N|CHI3L2_ENST00000466741.1_Missense_Mutation_p.T11N Q15782 CH3L2_HUMAN chitinase 3-like 2 90 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) AGTCTCAAAACCAAGTGAGTA 0.428000 5 33 0.000602214 0.000671534 1 1 0 ETFB 2109 broad.mit.edu 37 19 51857841 51857841 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:51857841G>C ENST00000354232.4 - 1 2519 c.52C>G c.(52-54)Ctt>Gtt p.L18V ETFB_ENST00000309244.4_Intron|CTD-2616J11.11_ENST00000600067.1_Intron NM_001014763.1 NP_001014763.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 0 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) AGGCCTGAAAGAGTGTTTCTC 0.418000 20 91 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140174890 140174890 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:140174890T>A ENST00000526136.1 + 1 341 c.341T>A c.(340-342)cTg>cAg p.L114Q PCDHA2_ENST00000520672.2_Missense_Mutation_p.L114Q|PCDHA2_ENST00000378132.1_Missense_Mutation_p.L114Q|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAGGCCGCTGCAGGTTTTC 0.527000 38 144 0 0 1 0 0 PLSCR1 5359 broad.mit.edu 37 3 146246550 146246550 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:146246550C>A ENST00000342435.4 - 4 573 c.163G>T c.(163-165)Ggt>Tgt p.G55C PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.G48C NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 55 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 GGGCCAGGACCTGAATGGCCG 0.537000 5 79 0.014758 0.0153781 1 1 0 ZNF800 168850 broad.mit.edu 37 7 127014885 127014885 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:127014885G>C ENST00000393313.1 - 5 1096 c.505C>G c.(505-507)Cag>Gag p.Q169E ZNF800_ENST00000265827.3_Missense_Mutation_p.Q169E|ZNF800_ENST00000393312.1_Missense_Mutation_p.Q169E Q2TB10 ZN800_HUMAN zinc finger protein 800 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TCCTGTATCTGAACTTCGGTT 0.398000 12 132 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253804 81253804 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:81253804C>A ENST00000599697.1 - 1 171 c.172G>T c.(172-174)Ggg>Tgg p.G58W PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 58 C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCTCCTTGCCCCTCGCACCAG 0.557000 12 106 3.07112e-06 3.79301e-06 1 1 0 GRIN2B 2904 broad.mit.edu 37 12 13720119 13720119 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:13720119A>T ENST00000279593.3 - 12 2647 c.2438T>A c.(2437-2439)cTg>cAg p.L813Q NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 813 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCAATGTCCAGCTGGCTGCT 0.522000 16 107 0 0 1 0 0 HEPN1 641654 broad.mit.edu 37 11 124789652 124789652 + Silent SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:124789652T>A ENST00000408930.5 + 1 507 c.6T>A c.(4-6)ggT>ggA p.G2G HEPACAM_ENST00000298251.4_3'UTR NM_001037558.2 NP_001032647.2 Q6WQI6 HEPN1_HUMAN hepatocellular carcinoma, down-regulated 1 2 cytoplasm large_intestine(1)|lung(1)|stomach(1) 3 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287) AGGTGATGGGTAACTGGGGCC 0.547000 8 39 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20199487 20199487 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:20199487T>C ENST00000400331.5 - 5 805 c.497A>G c.(496-498)cAc>cGc p.H166R MACC1_ENST00000589011.1_Missense_Mutation_p.H166R|MACC1_ENST00000332878.4_Missense_Mutation_p.H166R NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 166 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CTCTAAGTCGTGTAGTAGGAT 0.423000 24 112 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187531956 187531956 + Splice_Site SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:187531956G>T ENST00000261023.3 + 23 2600 c.2327_splice c.e23+1 p.G776_splice ITGAV_ENST00000433736.2_Splice_Site_p.G730_splice|ITGAV_ENST00000374907.3_Splice_Site_p.G740_splice|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 776 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) TGAGATAAGAGGGTCAGTATG 0.363000 10 57 9.70103e-10 1.36078e-09 1 1 0 SLC18B1 116843 broad.mit.edu 37 6 133091439 133091439 + Silent SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:133091439T>C ENST00000275227.4 - 14 1437 c.1341A>G c.(1339-1341)gaA>gaG p.E447E NM_052831.2 NP_439896.1 Q6NT16 CF192_HUMAN solute carrier family 18, subfamily B, member 1 447 transmembrane transport integral to membrane GAGTAGTTCGTTCCTCCTCTG 0.398000 10 112 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2705694 2705694 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:2705694C>T ENST00000320876.6 + 14 2183 c.1845C>T c.(1843-1845)gtC>gtT p.V615V RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.V615V NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 615 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 aatattaGGTCAAGACAATCA 0.299000 5 39 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27456887 27456887 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:27456887G>A ENST00000264705.4 + 22 3573 c.3411G>A c.(3409-3411)gtG>gtA p.V1137V CAD_ENST00000403525.1_Silent_p.V1074V NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1137 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AGATTGACGTGGATGCCGTGG 0.562000 5 33 0 0 1 0 0 BFSP1 631 broad.mit.edu 37 20 17475130 17475130 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:17475130C>T ENST00000377873.3 - 8 1626 c.1587G>A c.(1585-1587)caG>caA p.Q529Q BFSP1_ENST00000544874.1_Silent_p.Q390Q|BFSP1_ENST00000377868.2_Silent_p.Q404Q|BFSP1_ENST00000536626.1_Silent_p.Q390Q NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 529 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens p.Q529Q(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 CTTCTTTCTCCTGCAGACCCA 0.542000 11 111 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38690331 38690331 + Silent SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:38690331A>T ENST00000261438.5 + 3 488 c.183A>T c.(181-183)ccA>ccT p.P61P KLF3_ENST00000514033.1_Silent_p.P61P NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 61 Pro-rich.|Repressor domain. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AGATGGAGCCAGTGGACCTCA 0.567000 9 73 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114199072 114199072 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:114199072C>T ENST00000357077.4 + 16 1816 c.1763C>T c.(1762-1764)gCc>gTc p.A588V ANK2_ENST00000394537.3_Missense_Mutation_p.A588V|ANK2_ENST00000506722.1_Missense_Mutation_p.A567V|ANK2_ENST00000264366.6_Missense_Mutation_p.A588V NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 588 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CGCCGTGCTGCCGCAGATTCT 0.413000 5 31 0 0 1 0 0 CCDC107 203260 broad.mit.edu 37 9 35658646 35658646 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:35658646G>C ENST00000421582.2 + 2 243 c.180G>C c.(178-180)cgG>cgC p.R60R CCDC107_ENST00000378409.3_Silent_p.R60R|CCDC107_ENST00000378406.1_Silent_p.R60R|CCDC107_ENST00000378407.3_Silent_p.R60R|CCDC107_ENST00000426546.2_Silent_p.R60R|CCDC107_ENST00000327351.2_Silent_p.R60R Q8WV48 CC107_HUMAN coiled-coil domain containing 107 60 integral to membrane endometrium(1)|lung(3)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AACGCGAGCGGACCCGGGCCG 0.706000 3 11 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 119983130 119983130 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:119983130C>A ENST00000341846.5 - 9 2180 c.1759G>T c.(1759-1761)Gcc>Tcc p.A587S TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000541857.1_Missense_Mutation_p.A320S|TRIM29_ENST00000528870.1_Missense_Mutation_p.A120S|TRIM29_ENST00000524816.3_Missense_Mutation_p.A153S|TRIM29_ENST00000529044.1_Missense_Mutation_p.A326S NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 587 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GCTCATGGGGCTTCGTTGGAC 0.587000 11 84 4.68919e-08 6.27926e-08 1 1 0 OR2T4 127074 broad.mit.edu 37 1 248525562 248525562 + Missense_Mutation SNP A A C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:248525562A>C ENST00000366475.1 + 1 680 c.680A>C c.(679-681)tAt>tCt p.Y227S NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCTCACTCTATGAGATTTTC 0.478000 26 199 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91356974 91356974 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr14:91356974C>T ENST00000261991.3 - 14 1866 c.1693G>A c.(1693-1695)Gat>Aat p.D565N RPS6KA5_ENST00000536315.2_Missense_Mutation_p.D486N NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 565 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) AATCCAAAATCAATTATTTTA 0.408000 5 45 0 0 1 0 0 B3GNTL1 146712 broad.mit.edu 37 17 81006548 81006548 + Silent SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:81006548A>G ENST00000320865.3 - 2 187 c.174T>C c.(172-174)agT>agC p.S58S B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR NM_001009905.1 NP_001009905.1 Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 58 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TACAAACCTTACTGGCATCAT 0.502000 15 88 0 0 1 0 0 C8orf31 286122 broad.mit.edu 37 8 144130653 144130653 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:144130653T>G ENST00000395172.1 + 5 735 c.383T>G c.(382-384)cTt>cGt p.L128R C8orf31_ENST00000517653.1_3'UTR NM_173687.2 NP_775958.1 Q8N9H6 CH031_HUMAN chromosome 8 open reading frame 31 128 breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) gggaaccaccttctctactct 0.488000 9 70 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10681678 10681678 + Nonsense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:10681678G>A ENST00000302079.6 - 46 7230 c.7231C>T c.(7231-7233)Caa>Taa p.Q2411* PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.Q266*|PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.Q431*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.Q2499*|PIEZO2_ENST00000503781.3_Nonsense_Mutation_p.Q2474* Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2474 integral to membrane ion channel activity GAAAAAGCTTGTATAAATTTG 0.388000 20 113 0 0 1 0 0 PTF1A 256297 broad.mit.edu 37 10 23482681 23482681 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:23482681G>A ENST00000376504.3 + 2 1037 c.833G>A c.(832-834)gGa>gAa p.G278E NM_178161.2 NP_835455.1 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 278 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CCCCTAGCAGGACACTCTCTC 0.507000 29 346 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117389255 117389255 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:117389255T>C ENST00000321322.6 - 7 1617 c.1616A>G c.(1615-1617)gAc>gGc p.D539G DSCAML1_ENST00000527706.1_Missense_Mutation_p.D269G NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 479 Ig-like C2-type 6. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACGCCCCCGTCGCGGATCTG 0.587000 19 92 0 0 1 0 0 TES 26136 broad.mit.edu 37 7 115889218 115889218 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:115889218G>T ENST00000358204.4 + 3 473 c.258G>T c.(256-258)atG>atT p.M86I TES_ENST00000485009.1_3'UTR|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Missense_Mutation_p.M77I|TES_ENST00000537767.1_Intron|AC073130.3_ENST00000444244.1_RNA NM_015641.3 NP_056456.1 Q9UGI8 TES_HUMAN testis derived transcript (3 LIM domains) 86 negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) GAATTCCCATGTATAAACGCA 0.408000 18 120 3.52763e-06 4.32239e-06 1 1 0 TIGD5 84948 broad.mit.edu 37 8 144680972 144680972 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:144680972C>T ENST00000321385.3 + 1 899 c.752C>T c.(751-753)cCg>cTg p.P251L TIGD5_ENST00000504548.2_Missense_Mutation_p.P300L E7EWS2 E7EWS2_HUMAN tigger transposable element derived 5 300 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CTGCCGGACCCGCCCAGCCTG 0.721000 3 22 0 0 1 0 0 PAPL 390928 broad.mit.edu 37 19 39591587 39591587 + Splice_Site SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:39591587A>T ENST00000331256.5 + 8 1081 c.e8-1 PAPL_ENST00000594229.1_Splice_Site NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN extracellular region acid phosphatase activity|metal ion binding CCTTCTCCCTAGAAAGCCAAT 0.637000 14 115 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658395 72658395 + RNA SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:72658395T>A ENST00000425256.1 - 0 1516 NR_002164.1 gtacccgtcgtgggcaccgta 0.463000 15 76 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48707824 48707824 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:48707824A>G ENST00000316623.5 - 64 8415 c.7960T>C c.(7960-7962)Tct>Cct p.S2654P FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2654 EGF-like 47; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCCTGCGCAGAGCCACATTCA 0.567000 6 94 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 76984582 76984582 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:76984582G>A ENST00000257626.7 - 16 1364 c.1286C>T c.(1285-1287)gCg>gTg p.A429V NM_017439.3 NP_059135.2 gamma-secretase activating protein GCAGTGCAACGCAGCCATCTT 0.488000 10 97 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53617258 53617258 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:53617258T>A ENST00000219022.2 + 4 667 c.589T>A c.(589-591)Ttg>Atg p.L197M NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 197 cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TATGACTCTCTTGGTAGAGAA 0.378000 6 62 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27555605 27555605 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:27555605C>T ENST00000544915.1 + 12 1589 c.1370C>T c.(1369-1371)tCa>tTa p.S457L ARNTL2_ENST00000546179.1_Missense_Mutation_p.S454L|ARNTL2_ENST00000311001.5_Missense_Mutation_p.S477L|ARNTL2_ENST00000542388.1_Missense_Mutation_p.S406L|ARNTL2_ENST00000395901.2_Missense_Mutation_p.S454L|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000266503.5_Missense_Mutation_p.S491L|ARNTL2_ENST00000261178.5_Missense_Mutation_p.S443L NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 491 PAC. circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) TCTCAATCATCAGAAGGTAAG 0.348000 4 53 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039884 31039884 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:31039884G>A ENST00000355537.3 + 4 3505 c.3358G>A c.(3358-3360)Ggc>Agc p.G1120S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGTTTACCCAGGCATGGTTGG 0.567000 11 84 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51111375 51111375 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:51111375C>A ENST00000395542.2 - 10 1541 c.1357G>T c.(1357-1359)Ggg>Tgg p.G453W COBL_ENST00000265136.7_Missense_Mutation_p.G371W O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 371 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTGCCAGACCCCAGGGGCAGG 0.622000 11 38 2.80697e-09 3.85027e-09 1 1 0 NETO1 81832 broad.mit.edu 37 18 70450945 70450945 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:70450945C>T ENST00000327305.6 - 7 1493 c.836G>A c.(835-837)cGa>cAa p.R279Q NETO1_ENST00000583169.1_Missense_Mutation_p.R279Q|NETO1_ENST00000299430.2_Missense_Mutation_p.R278Q NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 279 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CATCTGAAATCGGCTGTTTCG 0.453000 27 121 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430276 10430276 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:10430276C>A ENST00000245503.5 - 29 4353 c.3969G>T c.(3967-3969)agG>agT p.R1323S CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1323S|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1323 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTTCAAGTTGCCTCTTTAATT 0.393000 13 46 4.36969e-10 6.19956e-10 1 1 0 GPC3 2719 broad.mit.edu 37 X 132887564 132887564 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:132887564G>T ENST00000370818.3 - 3 1422 c.977C>A c.(976-978)aCa>aAa p.T326K GPC3_ENST00000543339.1_Missense_Mutation_p.T272K|GPC3_ENST00000394299.2_Missense_Mutation_p.T326K NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 326 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) ATCATGGATTGTTGAAAAGAG 0.438000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 34 84 4.3181e-19 6.82965e-19 1 1 0 TMEM198 130612 broad.mit.edu 37 2 220412305 220412305 + Nonsense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:220412305C>T ENST00000344458.2 + 4 829 c.244C>T c.(244-246)Cga>Tga p.R82* TMEM198_ENST00000373883.3_Nonsense_Mutation_p.R82*|RP11-256I23.1_ENST00000596829.1_RNA Q66K66 TM198_HUMAN transmembrane protein 198 82 Leu-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CCTCTGCTACCGAGAGCGGGT 0.632000 74 328 0 0 1 0 0 CLHC1 130162 broad.mit.edu 37 2 55449427 55449427 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:55449427T>G ENST00000401408.1 - 3 466 c.121A>C c.(121-123)Agt>Cgt p.S41R CLHC1_ENST00000406437.2_5'UTR|CLHC1_ENST00000407122.1_Missense_Mutation_p.S41R|CLHC1_ENST00000406076.1_Intron|CLHC1_ENST00000494539.1_Intron NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 CCTTCCTCACTACAGCCCAGT 0.348000 14 96 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39077641 39077641 + Nonsense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:39077641C>G ENST00000261425.3 + 3 592 c.440C>G c.(439-441)tCa>tGa p.S147* KLHL5_ENST00000504108.1_Nonsense_Mutation_p.S193*|KLHL5_ENST00000359687.2_Nonsense_Mutation_p.S193*|KLHL5_ENST00000381930.3_Nonsense_Mutation_p.S193*|KLHL5_ENST00000508137.2_Nonsense_Mutation_p.S6*|KLHL5_ENST00000261426.5_Intron NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 193 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 CCATGTACATCAGATGAATTT 0.328000 5 102 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58633194 58633194 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:58633194C>T ENST00000317147.5 - 2 380 c.48G>A c.(46-48)ctG>ctA p.L16L CNOT1_ENST00000441024.2_Silent_p.L16L|CNOT1_ENST00000569240.1_Silent_p.L16L NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 16 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AATTGTCCACCAGGTAGCTGA 0.483000 10 77 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63468160 63468160 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr14:63468160A>G ENST00000322893.7 - 4 590 c.322T>C c.(322-324)Tat>Cat p.Y108H KCNH5_ENST00000394968.1_Missense_Mutation_p.Y50H|KCNH5_ENST00000420622.2_Missense_Mutation_p.Y108H|KCNH5_ENST00000394964.2_Missense_Mutation_p.Y50H NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 108 PAC. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ATTTGCATATAAAACCAAACA 0.433000 11 29 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222462 140222462 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:140222462C>A ENST00000531613.1 + 1 1556 c.1556C>A c.(1555-1557)gCg>gAg p.A519E PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A519E|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGTGTACGCGCTGCAGCCG 0.682000 35 72 1.04594e-18 1.64589e-18 1 1 0 DAB2 1601 broad.mit.edu 37 5 39383274 39383274 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:39383274A>T ENST00000320816.6 - 10 1254 c.787T>A c.(787-789)Tgt>Agt p.C263S DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.C242S|DAB2_ENST00000545653.1_Missense_Mutation_p.C242S NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 263 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GGAAGAGAACAGGAGGTGATG 0.438000 17 134 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87144691 87144691 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:87144691G>T ENST00000265724.3 - 26 3555 c.3138C>A c.(3136-3138)acC>acA p.T1046T ABCB1_ENST00000543898.1_Silent_p.T982T|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1046 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TGTCCGGTCGGGTGGGATAGT 0.498000 8 51 5.18039e-06 6.32252e-06 1 1 0 TRIM49C 642612 broad.mit.edu 37 11 89774402 89774402 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:89774402G>T ENST00000448984.1 + 8 1372 c.1043G>T c.(1042-1044)gGg>gTg p.G348V TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 348 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(1)|lung(4) 8 GTCCATGTAGGGGACTCCTGG 0.448000 10 33 3.07112e-06 3.79301e-06 1 1 0 OSBPL8 114882 broad.mit.edu 37 12 76763448 76763448 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:76763448G>C ENST00000261183.3 - 20 2688 c.2209C>G c.(2209-2211)Ctc>Gtc p.L737V OSBPL8_ENST00000393249.2_Missense_Mutation_p.L695V|OSBPL8_ENST00000393250.4_Missense_Mutation_p.L695V NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 737 lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 TCTCCTGTGAGTGGATCAAGT 0.348000 6 94 0 0 1 0 0 ZNF550 162972 broad.mit.edu 37 19 58058874 58058874 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:58058874G>C ENST00000325134.5 - 3 798 c.642C>G c.(640-642)ctC>ctG p.L214L ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000457177.1_Silent_p.L246L|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000506609.2_Silent_p.L205L|ZNF550_ENST00000601415.1_Intron Q7Z398 ZN550_HUMAN zinc finger protein 550 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGTGCCGAATGAGAGTTGAGC 0.507000 5 77 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60893644 60893644 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:60893644G>C ENST00000252999.3 - 53 7171 c.7105C>G c.(7105-7107)Caa>Gaa p.Q2369E NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2369 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGCGGGTTTGTGTGGCCAGT 0.677000 24 55 0 0 1 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6955407 6955407 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrY:6955407C>T ENST00000383032.1 + 17 2027 c.1380C>T c.(1378-1380)ttC>ttT p.F460F TBL1Y_ENST00000346432.3_Silent_p.F460F|TBL1Y_ENST00000355162.2_Silent_p.F460F NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 460 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 GTGTAGCTTTCAGCCCCGATG 0.463000 10 60 0 0 1 0 0 ZGLP1 100125288 broad.mit.edu 37 19 10418891 10418891 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:10418891T>G ENST00000403903.3 - 1 1665 c.467A>C c.(466-468)gAc>gCc p.D156A ZGLP1_ENST00000403352.1_Missense_Mutation_p.D72A|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR NM_001103167.1 NP_001096637.1 P0C6A0 ZGLP1_HUMAN zinc finger, GATA-like protein 1 156 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1) 6 CAGGCTGGAGTCCGGCTTTAT 0.632000 18 56 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159092390 159092390 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:159092390G>C ENST00000296530.8 - 2 759 c.138C>G c.(136-138)atC>atG p.I46M RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.I46M|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Missense_Mutation_p.I46M|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.I46M NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 46 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 AGCCCAAGTAGATGGCACACG 0.662000 8 55 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5462840 5462840 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:5462840C>A ENST00000345221.3 - 4 1730 c.1176G>T c.(1174-1176)ccG>ccT p.P392P NLRP1_ENST00000262467.5_Silent_p.P392P|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.P392P|NLRP1_ENST00000269280.4_Silent_p.P392P|NLRP1_ENST00000577119.1_Silent_p.P392P|NLRP1_ENST00000572272.1_Silent_p.P392P NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 392 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TAATGGGAGCCGGAGTGGCTG 0.572000 27 53 8.24728e-16 1.27514e-15 1 1 0 ZNF532 55205 broad.mit.edu 37 18 56585970 56585970 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:56585970G>T ENST00000336078.4 + 4 1227 c.451G>T c.(451-453)Gac>Tac p.D151Y ZNF532_ENST00000591230.1_Missense_Mutation_p.D151Y|ZNF532_ENST00000591083.1_Missense_Mutation_p.D151Y|ZNF532_ENST00000591808.1_Missense_Mutation_p.D151Y|ZNF532_ENST00000589288.1_Missense_Mutation_p.D151Y NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 TGACCCCCCTGACAAGGAGGA 0.537000 31 133 7.68411e-24 1.22787e-23 1 1 0 RBM45 129831 broad.mit.edu 37 2 178981057 178981057 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:178981057C>G ENST00000286070.5 + 2 461 c.369C>G c.(367-369)atC>atG p.I123M NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 123 RRM 2. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding p.I123I(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TTACAAGAATCTTTGTTATGA 0.358000 19 139 0 0 1 0 0 PPP1R7 5510 broad.mit.edu 37 2 242092999 242092999 + Missense_Mutation SNP G G T rs140300724 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:242092999G>T ENST00000234038.6 + 2 635 c.161G>T c.(160-162)cGg>cTg p.R54L PPP1R7_ENST00000404405.3_Missense_Mutation_p.R54L|PPP1R7_ENST00000272983.8_Intron|PPP1R7_ENST00000407025.1_Missense_Mutation_p.R54L|PPP1R7_ENST00000406106.3_Missense_Mutation_p.R54L|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000401987.1_Intron NM_002712.1 NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 54 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) GGGGAGGAGCGGGGGGAGGAG 0.627000 12 81 5.50884e-06 6.71017e-06 1 1 0 SLCO2A1 6578 broad.mit.edu 37 3 133663999 133663999 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:133663999G>A ENST00000310926.4 - 10 1674 c.1401C>T c.(1399-1401)ctC>ctT p.L467L SLCO2A1_ENST00000493729.1_Silent_p.L391L NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 467 Kazal-like. 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 GGCAAGGGGAGAGGTACTCGA 0.577000 23 235 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361677 105361677 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:105361677C>T ENST00000297581.2 + 2 946 c.897C>T c.(895-897)ccC>ccT p.P299P DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 299 osteoclast differentiation cell surface|integral to membrane|plasma membrane TTTTCCTCCCCATACTTATCC 0.478000 15 195 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70981408 70981408 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:70981408G>T ENST00000276594.2 - 2 889 c.688C>A c.(688-690)Cca>Aca p.P230T NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GAGCTGTCTGGGGGGACCAGG 0.617000 13 87 1.5842e-08 2.15396e-08 1 1 0 CLSTN2 64084 broad.mit.edu 37 3 140178489 140178489 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:140178489C>A ENST00000458420.3 + 7 1290 c.1100C>A c.(1099-1101)cCc>cAc p.P367H RP11-68L1.2_ENST00000503357.1_RNA NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 367 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GCCAAAGTCCCCGATGGGATT 0.572000 HNSCC(16;0.037) 4 57 0.00024832 0.000282492 1 1 0 SLX4 84464 broad.mit.edu 37 16 3640014 3640014 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:3640014T>C ENST00000294008.3 - 12 4265 c.3625A>G c.(3625-3627)Aga>Gga p.R1209G NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1209 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GCTTCGCTTCTTGGTGGGCTC 0.552000 Direct reversal of damage 24 99 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430275 10430275 + Nonsense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:10430275G>A ENST00000245503.5 - 29 4354 c.3970C>T c.(3970-3972)Caa>Taa p.Q1324* CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q1324*|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1324 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCTTCAAGTTGCCTCTTTAAT 0.388000 12 46 0 0 1 0 0 NKRF 55922 broad.mit.edu 37 X 118723608 118723608 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:118723608C>G ENST00000371527.1 - 2 2432 c.1780G>C c.(1780-1782)Gat>Cat p.D594H NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.D609H|NKRF_ENST00000304449.5_Missense_Mutation_p.D594H NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 594 G-patch. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 CTCTCTACATCCAGACCAAGC 0.478000 32 99 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7598408 7598408 + Splice_Site SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:7598408G>T ENST00000264079.6 + 13 1700 c.e13-1 NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCTCTCCCCAGCATCCCGGCG 0.677000 4 21 0.00024832 0.000282492 1 1 0 MEOX2 4223 broad.mit.edu 37 7 15652098 15652098 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:15652098C>A ENST00000262041.5 - 3 1238 c.829G>T c.(829-831)Gca>Tca p.A277S NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 277 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) AGGGTGGCTGCACCAATTCCC 0.517000 19 131 1.33834e-09 1.85631e-09 1 1 0 FAM86DP 692099 broad.mit.edu 37 3 75471349 75471349 + RNA SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:75471349T>C ENST00000459803.1 - 0 1792 NR_024241.1 CCGCAGCTTCTTGGAGTGTCA 0.597000 9 36 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214788275 214788275 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:214788275A>T ENST00000366955.3 + 3 431 c.263A>T c.(262-264)cAt>cTt p.H88L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 88 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGATTTCTCATGAACTTCAA 0.358000 12 75 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39644501 39644501 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:39644501C>A ENST00000265708.4 - 10 986 c.883G>T c.(883-885)Gtt>Ttt p.V295F ADAM2_ENST00000347580.4_Missense_Mutation_p.V276F|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.V295F NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 295 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ACCAGAACAACACCTCCTGCA 0.303000 8 63 7.48243e-07 9.52588e-07 1 1 0 DCHS2 54798 broad.mit.edu 37 4 155156193 155156193 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:155156193G>T ENST00000357232.3 - 25 8245 c.8246C>A c.(8245-8247)tCt>tAt p.S2749Y NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2749 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AATAAAGACAGACTCTTTTCT 0.443000 11 69 6.40141e-05 7.51681e-05 1 1 0 IFI44L 10964 broad.mit.edu 37 1 79093907 79093907 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:79093907A>G ENST00000370751.4 + 2 486 c.307A>G c.(307-309)Aca>Gca p.T103A IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 103 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 ACTCTTAAATACAGCACCAAA 0.289000 6 51 0 0 1 0 0 RHD 6007 broad.mit.edu 37 1 25611185 25611185 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:25611185G>C ENST00000328664.4 + 2 425 c.270G>C c.(268-270)tgG>tgC p.W90C RHD_ENST00000342055.5_Missense_Mutation_p.W90C|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.W90C|RHD_ENST00000568195.1_Missense_Mutation_p.W90C|RHD_ENST00000423810.2_Missense_Mutation_p.W90C|RHD_ENST00000417538.2_Missense_Mutation_p.W90C|RHD_ENST00000357542.4_Missense_Mutation_p.W90C NM_016124.3 NP_057208.2 Q02161 RHD_HUMAN Rh blood group, D antigen 90 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GTGTGCAGTGGGCAATCCTGC 0.577000 4 70 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87424073 87424073 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:87424073G>A ENST00000517970.1 + 9 1338 c.1031G>A c.(1030-1032)gGg>gAg p.G344E WWP1_ENST00000265428.4_Missense_Mutation_p.G344E|WWP1_ENST00000349423.2_Missense_Mutation_p.G126E|WWP1_ENST00000341922.2_Missense_Mutation_p.G214E NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 344 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 CAGCAGTCTGGGAATGCCAAC 0.418000 13 52 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54569698 54569698 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:54569698G>C ENST00000336470.4 + 7 588 c.449G>C c.(448-450)tGc>tCc p.C150S GNL3L_ENST00000360845.2_Missense_Mutation_p.C150S|GNL3L_ENST00000489691.1_3'UTR NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 150 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 CCATTAGGCTGCCGCTGCTTC 0.542000 5 22 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034808 96034808 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:96034808G>T ENST00000358812.4 + 2 627 c.493G>T c.(493-495)Gat>Tat p.D165Y MANEA_ENST00000369293.1_Missense_Mutation_p.D165Y NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 165 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) CAGTTCTCGGGATCCTTCTGT 0.398000 32 105 1.99505e-19 3.17162e-19 1 1 0 ERCC4 2072 broad.mit.edu 37 16 14020516 14020516 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:14020516G>A ENST00000311895.7 + 3 496 c.487G>A c.(487-489)Gct>Act p.A163T ERCC4_ENST00000575156.1_Missense_Mutation_p.A163T NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 163 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 TTTTATTAAAGCTTTCACAGA 0.408000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 32 129 0 0 1 0 0 SPIC 121599 broad.mit.edu 37 12 101876625 101876625 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:101876625T>G ENST00000551346.1 + 5 425 c.266T>G c.(265-267)aTa>aGa p.I89R SPIC_ENST00000299272.5_Missense_Mutation_p.I89R Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 89 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 CTGCAGAACATAACTGAAAAC 0.398000 10 228 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110252418 110252418 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:110252418C>A ENST00000418703.2 - 1 278 c.184G>T c.(184-186)Gat>Tat p.D62Y TRPV4_ENST00000392719.2_Missense_Mutation_p.D62Y|TRPV4_ENST00000346520.2_Missense_Mutation_p.D62Y|TRPV4_ENST00000261740.2_Missense_Mutation_p.D62Y|TRPV4_ENST00000544971.1_Missense_Mutation_p.D62Y|TRPV4_ENST00000541794.1_Missense_Mutation_p.D62Y|TRPV4_ENST00000537083.1_Missense_Mutation_p.D62Y|TRPV4_ENST00000536838.1_Missense_Mutation_p.D28Y NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 62 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GGTCGCCCATCGCCTGGGCCA 0.627000 4 38 1.23904e-05 1.48877e-05 1 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307746 39307746 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:39307746G>A ENST00000541347.1 - 2 494 c.255C>T c.(253-255)ccC>ccT p.P85P CX3CR1_ENST00000358309.3_Silent_p.P117P|CX3CR1_ENST00000399220.2_Silent_p.P85P|CX3CR1_ENST00000542107.1_Silent_p.P85P NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 85 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GAGTCCAGAAGGGCAAAGTGG 0.463000 9 133 0 0 1 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16060378 16060378 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:16060378G>T ENST00000375799.3 + 20 3236 c.3009G>T c.(3007-3009)caG>caT p.Q1003H PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.Q983H NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 1003 Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GCGCCTGGCAGCGGAGCGACA 0.652000 3 35 0.115264 0.118122 1 1 0 SLC27A2 11001 broad.mit.edu 37 15 50474890 50474890 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:50474890A>T ENST00000267842.5 + 1 498 c.266A>T c.(265-267)aAt>aTt p.N89I SLC27A2_ENST00000380902.4_Missense_Mutation_p.N89I NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 89 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CGGCGCAGCAATCAAGTGGCC 0.667000 7 98 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181056 140181056 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:140181056C>T ENST00000522353.2 + 1 274 c.274C>T c.(274-276)Cgc>Tgc p.R92C PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R92C|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGATAGACCGCGAGGAACT 0.587000 19 227 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196436869 196436869 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:196436869G>T ENST00000367433.5 - 7 608 c.507C>A c.(505-507)aaC>aaA p.N169K KCNT2_ENST00000367431.4_Missense_Mutation_p.N169K|KCNT2_ENST00000451324.2_De_novo_Start_InFrame|KCNT2_ENST00000294725.8_Missense_Mutation_p.N169K Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 169 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CAAGCCAACAGTTCAGAAAGA 0.299000 4 48 0.00909568 0.00962342 1 1 0 MXRA5 25878 broad.mit.edu 37 X 3241187 3241187 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:3241187G>T ENST00000217939.6 - 5 2693 c.2539C>A c.(2539-2541)Cta>Ata p.L847I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 847 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCACCAAGTAGAGGTACATCT 0.478000 18 56 3.52763e-06 4.32239e-06 1 1 0 PRODH2 58510 broad.mit.edu 37 19 36293101 36293101 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:36293101A>G ENST00000301175.3 - 10 1435 c.1418T>C c.(1417-1419)cTa>cCa p.L473P NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 473 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACCCAGTGCTAGAGAGACGTG 0.572000 38 163 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22680715 22680715 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:22680715G>T ENST00000376603.2 + 8 1433 c.1291G>T c.(1291-1293)Gca>Tca p.A431S SPAG6_ENST00000538630.1_Missense_Mutation_p.A330S|SPAG6_ENST00000376601.1_Missense_Mutation_p.A116S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.A355S|SPAG6_ENST00000313311.6_Missense_Mutation_p.A355S O75602 SPAG6_HUMAN sperm associated antigen 6 355 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 TATTAAGGCTGCAGCTGCTTG 0.478000 8 56 7.48243e-07 9.52588e-07 1 1 0 BCL3 602 broad.mit.edu 37 19 45262867 45262867 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:45262867A>T ENST00000164227.5 + 9 1604 c.1360A>T c.(1360-1362)Agc>Tgc p.S454C NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 454 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) TCCAGGAGGCAGCTGAGGGGG 0.662000 T IGH@ CLL 12 64 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049053 36049053 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:36049053G>A ENST00000282507.3 - 4 882 c.781C>T c.(781-783)Ctg>Ttg p.L261L UGT3A2_ENST00000513300.1_Silent_p.L227L|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 261 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGGGAAGCAGAGGTCGAGCA 0.428000 14 93 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994145 144994145 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:144994145C>G ENST00000322810.4 - 32 10424 c.10255G>C c.(10255-10257)Gag>Cag p.E3419Q PLEC_ENST00000345136.3_Missense_Mutation_p.E3282Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3268Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3305Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3309Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3250Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3260Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3286Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3282Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3419 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ATGACCTTCTCCACGGTGACC 0.622000 7 112 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72324566 72324566 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:72324566G>A ENST00000389916.4 + 2 180 c.42G>A c.(40-42)gtG>gtA p.V14V NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 14 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CCTCCCAGGTGGCGCTTCGGG 0.612000 4 7 0 0 1 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209936007 209936007 + Splice_Site SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:209936007G>T ENST00000367024.1 + 4 1009 c.493_splice c.e4+1 p.G165_splice TRAF3IP3_ENST00000400959.3_Splice_Site_p.G145_splice|TRAF3IP3_ENST00000367025.3_Splice_Site_p.G165_splice|TRAF3IP3_ENST00000367026.3_Splice_Site_p.G145_splice|TRAF3IP3_ENST00000010338.4_Splice_Site_p.G145_splice Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 165 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) ACACCACCGTGGTAAGAGCAG 0.597000 15 62 1.99824e-07 2.59729e-07 1 1 0 CHRDL2 25884 broad.mit.edu 37 11 74417561 74417561 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:74417561C>T ENST00000376332.3 - 6 1049 c.553G>A c.(553-555)Gag>Aag p.E185K CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.E185K NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 185 cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) ACACTGTCCTCTTCATCCGAT 0.602000 7 77 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58579564 58579564 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:58579564T>C ENST00000506786.1 + 5 2140 c.1586T>C c.(1585-1587)aTt>aCt p.I529T ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Missense_Mutation_p.I571T|ZNF135_ENST00000511556.1_Missense_Mutation_p.I583T|ZNF135_ENST00000401053.4_Missense_Mutation_p.I595T|ZNF135_ENST00000439855.2_Missense_Mutation_p.I571T B4DHH9 B4DHH9_HUMAN zinc finger protein 135 583 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CACCAGAGGATTCACACCAAG 0.527000 8 153 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55725892 55725892 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:55725892C>T ENST00000379906.2 + 5 1101 c.846C>T c.(844-846)gtC>gtT p.V282V SLC6A2_ENST00000567238.1_Silent_p.V177V|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000568943.1_Silent_p.V282V|SLC6A2_ENST00000219833.8_Silent_p.V282V|SLC6A2_ENST00000561820.1_Silent_p.V282V|SLC6A2_ENST00000414754.3_Silent_p.V282V NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 282 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TCCATGGCGTCACGCTGCCCG 0.582000 13 70 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78472358 78472358 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:78472358T>A ENST00000377211.4 - 8 1728 c.1576A>T c.(1576-1578)Agt>Tgt p.S526C EDNRB_ENST00000446573.1_Intron|EDNRB_ENST00000334286.5_Missense_Mutation_p.S436C NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 436 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TATTTATTACTGGAACGGAAG 0.358000 4 42 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119934839 119934839 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:119934839G>C ENST00000361035.4 + 7 1200 c.917G>C c.(916-918)gGa>gCa p.G306A HAO2_ENST00000325945.3_Missense_Mutation_p.G293A NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 293 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) CTGGCCCTTGGAGCTAAGTGC 0.512000 5 104 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881511 228881511 + Silent SNP C C T rs142178318 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:228881511C>T ENST00000392056.3 - 7 4105 c.4059G>A c.(4057-4059)gcG>gcA p.A1353A SPHKAP_ENST00000344657.5_Silent_p.A1353A NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1353 cytoplasm protein binding p.A1353A(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACATCCTGCTCGCAGCTAATC 0.502000 20 95 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71833872 71833872 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:71833872C>A ENST00000266674.5 + 1 323 c.12C>A c.(10-12)tcC>tcA p.S4S LGR5_ENST00000540815.2_Silent_p.S4S|TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Silent_p.S4S O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 4 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TGGACACCTCCCGGCTCGGTG 0.721000 4 47 0.00909568 0.00962342 1 1 0 CCDC170 80129 broad.mit.edu 37 6 151939253 151939253 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:151939253C>A ENST00000367290.5 + 11 2229 c.2140C>A c.(2140-2142)Cca>Aca p.P714T CCDC170_ENST00000239374.7_Missense_Mutation_p.P707T Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 707 AGAGAGGCACCCACAAGGCCA 0.438000 14 76 0.00244969 0.00267396 1 1 0 AP1G1 164 broad.mit.edu 37 16 71780567 71780567 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:71780567C>A ENST00000299980.4 - 17 2095 c.1654G>T c.(1654-1656)Gga>Tga p.G552* AP1G1_ENST00000423132.2_Nonsense_Mutation_p.G555*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.G555*|AP1G1_ENST00000564155.1_5'UTR|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.G575*|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.G552* NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 552 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity p.G552R(1) breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) ATGCTGCTTCCGTAGATGGAA 0.353000 11 57 1.08611e-07 1.42667e-07 1 1 0 ZUFSP 221302 broad.mit.edu 37 6 116967063 116967063 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:116967063T>A ENST00000368576.3 - 9 1746 c.1503A>T c.(1501-1503)aaA>aaT p.K501N NM_145062.2 NP_659499.2 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 501 intracellular zinc ion binding NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) TTCGGTTTTTTTTCTCTTCAA 0.338000 22 63 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178482620 178482620 + Silent SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:178482620A>T ENST00000355689.4 - 1 1074 c.810T>A c.(808-810)gcT>gcA p.A270A AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 270 cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) GGGTTTCTTGAGCTACCTCAT 0.522000 45 187 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620879 7620879 + Silent SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:7620879T>C ENST00000486284.1 + 8 2560 c.2286T>C c.(2284-2286)taT>taC p.Y762Y GRM7_ENST00000389336.4_Silent_p.Y762Y|GRM7_ENST00000402647.2_Silent_p.Y762Y|GRM7_ENST00000357716.4_Silent_p.Y762Y|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.Y762Y NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 762 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CCTTGGGATATAGCATTCTTC 0.438000 17 105 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121204000 121204000 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:121204000A>T ENST00000264233.5 - 17 5789 c.5661T>A c.(5659-5661)gaT>gaA p.D1887E NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1887 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) GAAATCCATCATCTCTAATAG 0.368000 DNA polymerases (catalytic subunits) 12 85 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626810 122626810 + Silent SNP G G T rs148429340 by1000genomes TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:122626810G>T ENST00000303924.4 - 4 1735 c.1198C>A c.(1198-1200)Cgg>Agg p.R400R NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 400 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) ATTTTACCCCGGTAGAAGAGC 0.408000 28 166 5.61819e-17 8.774e-17 1 1 0 AQR 9716 broad.mit.edu 37 15 35163077 35163077 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:35163077C>A ENST00000156471.5 - 31 3869 c.3644G>T c.(3643-3645)tGt>tTt p.C1215F NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1215 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ACCAAGTAAACACATGTACAT 0.343000 7 83 0.0293803 0.0303092 1 1 0 GPR149 344758 broad.mit.edu 37 3 154146887 154146887 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:154146887C>A ENST00000389740.2 - 1 617 c.518G>T c.(517-519)gGc>gTc p.G173V NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 173 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CACGAAGGCGCCCCAGCCGCA 0.662000 7 47 0.248553 0.251802 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76513434 76513434 + Splice_Site SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:76513434C>G ENST00000307431.8 + 13 2263 c.1879_splice c.e13+1 p.T626_splice CNTNAP4_ENST00000476707.1_Splice_Site_p.T630_splice|CNTNAP4_ENST00000377504.4_Splice_Site_p.T578_splice|CNTNAP4_ENST00000478060.1_Splice_Site_p.T554_splice|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 627 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding p.T602T(1)|p.T554T(1)|p.T626T(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GCAATATGACCGGTGAGTTAA 0.338000 22 107 0 0 1 0 0 CCDC107 203260 broad.mit.edu 37 9 35660488 35660488 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:35660488G>A ENST00000421582.2 + 3 412 c.349G>A c.(349-351)Ggg>Agg p.G117R CCDC107_ENST00000378409.3_Intron|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378406.1_Intron|CCDC107_ENST00000378407.3_Intron|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000426546.2_Intron|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000327351.2_Intron Q8WV48 CC107_HUMAN coiled-coil domain containing 107 269 integral to membrane endometrium(1)|lung(3)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTGCTGGGTCGGGGGAGTTTA 0.552000 20 77 0 0 1 0 0 SHOX2 6474 broad.mit.edu 37 3 157823829 157823829 + Translation_Start_Site SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:157823829G>T ENST00000389589.4 - 0 120 RSRC1_ENST00000480820.1_Intron|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_De_novo_Start_OutOfFrame|SHOX2_ENST00000425436.3_De_novo_Start_OutOfFrame|SHOX2_ENST00000483851.2_De_novo_Start_OutOfFrame NM_003030.4 NP_003021.3 O60902 SHOX2_HUMAN short stature homeobox 2 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) CCGCACGTCAGCCCGGCGCTC 0.542000 5 49 0.000602214 0.000671534 1 1 0 KRT76 51350 broad.mit.edu 37 12 53165928 53165928 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:53165928C>T ENST00000332411.2 - 5 1140 c.1087G>A c.(1087-1089)Gag>Aag p.E363K NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 363 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGGGCAATCTCCTCATACTGG 0.572000 10 96 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070965 9070965 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:9070965G>T ENST00000397910.4 - 3 16684 c.16481C>A c.(16480-16482)aCg>aAg p.T5494K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5496 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTCTCAGACGTGCTGCTCTC 0.473000 19 75 6.94344e-10 9.78394e-10 1 1 0 MLXIPL 51085 broad.mit.edu 37 7 73008232 73008232 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:73008232C>G ENST00000313375.3 - 17 2569 c.2522G>C c.(2521-2523)cGg>cCg p.R841P MLXIPL_ENST00000354613.1_Missense_Mutation_p.R820P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R748P|MLXIPL_ENST00000434326.1_3'UTR|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R839P|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R822P NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 841 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TGTGACTGCCCGTGTGGCTTG 0.637000 10 61 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6432502 6432502 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:6432502G>A ENST00000389906.2 - 2 175 c.76C>T c.(76-78)Ctg>Ttg p.L26L APBB1_ENST00000311051.3_Silent_p.L26L|APBB1_ENST00000299402.6_Silent_p.L26L|APBB1_ENST00000533407.1_Intron NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 26 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TGCAGAGGCAGGGGTAGGCTC 0.652000 25 115 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372402 175372402 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:175372402C>A ENST00000367674.1 - 4 1558 c.850G>T c.(850-852)Gag>Tag p.E284* TNR_ENST00000263525.2_Nonsense_Mutation_p.E284* NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 284 Cys-rich.|EGF-like 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TAGCCCTCCTCGCATAAACAG 0.612000 21 54 3.51602e-12 5.1535e-12 1 1 0 CYLC1 1538 broad.mit.edu 37 X 83129330 83129330 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:83129330C>A ENST00000329312.4 + 4 1651 c.1614C>A c.(1612-1614)atC>atA p.I538I NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 538 8 X approximate tandem repeats. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 CTACAAAAATCAAAGGTTCAG 0.363000 11 27 0.000151284 0.000174993 1 1 0 LRRC7 57554 broad.mit.edu 37 1 70452010 70452010 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:70452010A>G ENST00000310961.5 + 11 1191 c.773A>G c.(772-774)gAa>gGa p.E258G LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.E253G Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 253 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TCTGGATGTGAAGCCCTTGAG 0.338000 6 49 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88009017 88009017 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:88009017G>T ENST00000276127.4 + 3 861 c.602G>T c.(601-603)aGg>aTg p.R201M CPXCR1_ENST00000373111.1_Missense_Mutation_p.R201M NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 201 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 AGGCCTTCGAGGGTGCACTAC 0.423000 7 22 1.06961e-07 1.41399e-07 1 1 0 DNAJB8 165721 broad.mit.edu 37 3 128181853 128181853 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:128181853G>T ENST00000469083.1 - 2 2793 c.236C>A c.(235-237)gCc>gAc p.A79D DNAJB8_ENST00000319153.3_Missense_Mutation_p.A79D Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 79 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) GGGCGTGCTGGCCCCGCCACC 0.592000 11 136 1.08611e-07 1.42667e-07 1 1 0 POC1A 25886 broad.mit.edu 37 3 52181101 52181101 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:52181101C>A ENST00000394970.2 - 5 783 c.466G>T c.(466-468)Gac>Tac p.D156Y POC1A_ENST00000474012.1_Missense_Mutation_p.D118Y|POC1A_ENST00000296484.2_Missense_Mutation_p.D156Y NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 156 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 AGCCGCCCGTCGGGGGAGAAC 0.582000 8 52 1.26484e-09 1.76226e-09 1 1 0 MYOM2 9172 broad.mit.edu 37 8 2021570 2021570 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:2021570G>C ENST00000262113.4 + 10 1251 c.1110G>C c.(1108-1110)ctG>ctC p.L370L MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 370 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GCGCCTTCCTGTTTGTCAGAG 0.667000 7 22 0 0 1 0 0 KCTD15 79047 broad.mit.edu 37 19 34297900 34297900 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:34297900G>T ENST00000284006.5 + 5 627 c.375G>T c.(373-375)ccG>ccT p.P125P KCTD15_ENST00000589786.1_Silent_p.P125P|KCTD15_ENST00000430256.2_Silent_p.P125P|KCTD15_ENST00000588881.1_Silent_p.P125P NM_001129994.1|NM_001129995.1|NM_024076.2 NP_001123466.1|NP_001123467.1|NP_076981.2 Q96SI1 KCD15_HUMAN potassium channel tetramerization domain containing 15 125 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1) 5 Esophageal squamous(110;0.162) TGCTGCTTCCGGATGACTTTA 0.537000 8 78 1.12685e-05 1.35924e-05 1 1 0 TCHH 7062 broad.mit.edu 37 1 152084594 152084594 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:152084594C>T ENST00000368804.1 - 2 1098 c.1099G>A c.(1099-1101)Gag>Aag p.E367K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 367 5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tcctcctgctcgcgcctcagc 0.721000 5 41 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78686810 78686810 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:78686810G>C ENST00000545128.1 + 7 1428 c.890G>C c.(889-891)aGa>aCa p.R297T PCSK5_ENST00000376767.3_Missense_Mutation_p.R297T|PCSK5_ENST00000376752.4_Missense_Mutation_p.R297T NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 297 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 AACGGCGTTAGAATGGTAGGT 0.517000 12 161 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130869662 130869662 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:130869662G>T ENST00000357462.5 - 4 916 c.823C>A c.(823-825)Cca>Aca p.P275T POTEF_ENST00000360967.5_Missense_Mutation_p.P275T|POTEF_ENST00000409914.2_Missense_Mutation_p.P275T|POTEF_ENST00000361163.4_Missense_Mutation_p.P285T A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 275 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AGTAACAGTGGTGTGAGGCCA 0.323000 9 64 0.000442599 0.00049893 1 1 0 MFSD10 10227 broad.mit.edu 37 4 2934858 2934858 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:2934858C>T ENST00000329687.4 - 3 881 c.347G>A c.(346-348)aGg>aAg p.R116K MFSD10_ENST00000507555.1_Missense_Mutation_p.R116K|MFSD10_ENST00000514800.1_Missense_Mutation_p.R116K|MFSD10_ENST00000355443.4_Missense_Mutation_p.R116K|MFSD10_ENST00000508221.1_Missense_Mutation_p.R116K NM_001120.4 NP_001111.3 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 10 116 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CACCGGGCGCCTCCCCAAGCA 0.627000 3 33 0 0 1 0 0 ALG11 440138 broad.mit.edu 37 13 52598366 52598366 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:52598366G>T ENST00000521508.1 + 3 505 c.500G>T c.(499-501)tGt>tTt p.C167F ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR NM_001004127.2 NP_001004127.2 ALG11, alpha-1,2-mannosyltransferase endometrium(1)|large_intestine(6)|lung(4)|ovary(2) 13 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.44e-08) CTAATGCAGTGTGTTCCTGAT 0.428000 15 133 1.3612e-06 1.72234e-06 1 1 0 TERT 7015 broad.mit.edu 37 5 1264599 1264599 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:1264599C>G ENST00000310581.5 - 11 2820 c.2763G>C c.(2761-2763)caG>caC p.Q921H TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 921 Required for oligomerization.|Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGGCCGGCATCTGAACAAAAG 0.627000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 4 60 0 0 1 0 0 ATF2 1386 broad.mit.edu 37 2 175979528 175979528 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:175979528G>A ENST00000264110.2 - 8 814 c.516C>T c.(514-516)ccC>ccT p.P172P ATF2_ENST00000392543.2_Intron|ATF2_ENST00000538946.1_Silent_p.P154P|ATF2_ENST00000409437.1_Intron|ATF2_ENST00000487334.2_Silent_p.P154P|ATF2_ENST00000345739.5_Silent_p.P114P|ATF2_ENST00000426833.3_Silent_p.P154P|ATF2_ENST00000409833.1_Silent_p.P172P|ATF2_ENST00000409635.1_Silent_p.P114P|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392544.1_Silent_p.P172P NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 172 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) GCAGCACATTGGGAACCTGTA 0.438000 30 148 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155231146 155231146 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:155231146C>G ENST00000540897.1 + 2 156 c.88C>G c.(88-90)Cag>Gag p.Q30E IL9R_ENST00000244174.5_Intron|IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000369423.2_Missense_Mutation_p.Q40E NM_176786.1 NP_789743.2 Q01113 IL9R_HUMAN interleukin 9 receptor 0 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTGGTGGTTCCAGGCTGCACG 0.557000 22 268 0 0 1 0 0 RFTN1 23180 broad.mit.edu 37 3 16399487 16399487 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:16399487G>A ENST00000334133.4 - 7 1370 c.1098C>T c.(1096-1098)acC>acT p.T366T RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Silent_p.T330T NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 366 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 AGCCCTGTATGGTTTTGCTAT 0.463000 12 138 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56903738 56903738 + Splice_Site SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:56903738T>A ENST00000438926.2 + 4 630 c.e4+2 SLC12A3_ENST00000563236.1_Splice_Site|SLC12A3_ENST00000566786.1_Splice_Site|SLC12A3_ENST00000262502.5_Splice_Site NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TCAAGTCAGGTGGGCCATCCC 0.597000 4 49 0 0 1 0 0 FAM86HP 729375 broad.mit.edu 37 3 129821650 129821650 + RNA SNP G G A rs56088005 by1000genomes TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:129821650G>A ENST00000500074.2 - 0 495 GGTTGCGGACGGTAAAGGCCA 0.667000 6 112 0 0 1 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26204924 26204924 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:26204924C>G ENST00000360441.4 + 1 67 c.52C>G c.(52-54)Cgt>Ggt p.R18G NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 18 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) AGGCGCTAAGCGTCACCGTAA 0.552000 28 90 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150780189 150780189 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:150780189G>C ENST00000370357.4 + 4 416 c.171G>C c.(169-171)gtG>gtC p.V57V NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 57 PAS. nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TCATTTGTGTGGCTGAAAACA 0.333000 18 64 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58240827 58240827 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:58240827G>T ENST00000377918.3 + 3 2683 c.2657G>T c.(2656-2658)aGc>aTc p.S886I NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 886 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GAAAGAGCCAGCCTGAGAGAC 0.463000 9 58 0.00448238 0.00483318 1 1 0 SEMG2 6407 broad.mit.edu 37 20 43850823 43850823 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:43850823G>T ENST00000372769.3 + 2 640 c.550G>T c.(550-552)Ggt>Tgt p.G184C NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 184 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) TGCACAAAAAGGTAGAACACA 0.378000 16 104 4.14922e-12 6.06725e-12 1 1 0 SETX 23064 broad.mit.edu 37 9 135163991 135163991 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:135163991T>C ENST00000372169.2 - 16 6336 c.6154A>G c.(6154-6156)Att>Gtt p.I2052V SETX_ENST00000224140.5_Missense_Mutation_p.I2052V|SETX_ENST00000393220.1_Missense_Mutation_p.I2052V Q7Z333 SETX_HUMAN senataxin 2052 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCACTATTAATAGACTTTTCT 0.358000 5 34 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94546095 94546095 + Missense_Mutation SNP C C A rs63749083 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:94546095C>A ENST00000370225.3 - 8 1124 c.1038G>T c.(1036-1038)aaG>aaT p.K346N ABCA4_ENST00000535735.1_Missense_Mutation_p.K346N NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 346 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CCAGAAAGGCCTTATAGTTAT 0.473000 18 120 6.33239e-15 9.69402e-15 1 1 0 ARFGAP1 55738 broad.mit.edu 37 20 61919105 61919105 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:61919105G>T ENST00000370283.4 + 13 1241 c.1101G>T c.(1099-1101)tgG>tgT p.W367C ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.W254C|ARFGAP1_ENST00000370275.4_3'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.W375C|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.W322C|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.W301C NM_018209.2 NP_060679.1 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 367 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) GGGAGGTGTGGGGCTCGGCCT 0.692000 6 17 0.00116845 0.00128674 1 1 0 TPM2 7169 broad.mit.edu 37 9 35685460 35685460 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:35685460C>G ENST00000378292.3 - 4 1665 c.463G>C c.(463-465)Gct>Cct p.A155P TPM2_ENST00000378300.5_Missense_Mutation_p.A155P|TPM2_ENST00000360958.2_Missense_Mutation_p.A155P|TPM2_ENST00000329305.2_Missense_Mutation_p.A155P NM_213674.1 NP_998839.1 P07951 TPM2_HUMAN tropomyosin 2 (beta) 155 muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GAATCCTCAGCGATGTGCTTG 0.552000 16 96 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71592748 71592748 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:71592748C>G ENST00000409544.1 + 6 2537 c.1907C>G c.(1906-1908)tCt>tGt p.S636C ZNF638_ENST00000264447.4_Missense_Mutation_p.S636C|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.S636C|ZNF638_ENST00000355812.3_Missense_Mutation_p.S636C NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 636 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 GGAGGACATTCTATTCGTTGT 0.378000 7 57 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61687968 61687968 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:61687968T>G ENST00000577390.1 - 12 2898 c.1944A>C c.(1942-1944)aaA>aaC p.K648N CDH8_ENST00000299345.6_Missense_Mutation_p.K648N|CDH8_ENST00000577730.1_Missense_Mutation_p.K648N NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 648 K -> QK (in Ref. 4; AAA35628). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATGGTTCATTTTTATGCCGCC 0.398000 10 95 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60892525 60892525 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:60892525C>A ENST00000252999.3 - 55 7453 c.7387G>T c.(7387-7389)Ggg>Tgg p.G2463W NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2463 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCCGAGCCCCATCCAGGCTG 0.677000 7 32 2.62144e-13 3.91637e-13 1 1 0 AKAP3 10566 broad.mit.edu 37 12 4737400 4737400 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:4737400C>T ENST00000545990.2 - 5 1192 c.668G>A c.(667-669)aGc>aAc p.S223N AKAP3_ENST00000228850.1_Missense_Mutation_p.S223N NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 223 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TTCTTTGGTGCTCTCCTTGAT 0.463000 8 158 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486794 94486794 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:94486794G>T ENST00000375708.3 - 9 2180 c.1982C>A c.(1981-1983)cCa>cAa p.P661Q ROR2_ENST00000375715.1_Missense_Mutation_p.P521Q|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 661 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GATGGCCTCTGGGGCCATCCA 0.582000 6 42 0.0215528 0.0223084 1 1 0 CD1C 911 broad.mit.edu 37 1 158261143 158261143 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:158261143G>C ENST00000368170.3 + 2 560 c.281G>C c.(280-282)gGa>gCa p.G94A NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 94 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) TACCTCTTTGGATTAACTCGG 0.383000 27 106 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28934766 28934766 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:28934766C>A ENST00000257192.4 + 15 2819 c.2607C>A c.(2605-2607)gtC>gtA p.V869V RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.V228V|RP11-534N16.1_ENST00000581452.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 869 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGAGAGTGGTCGGCCCAATCT 0.507000 36 136 6.02846e-25 9.65799e-25 1 1 0 DPH2 1802 broad.mit.edu 37 1 44437368 44437368 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:44437368G>C ENST00000255108.3 + 4 966 c.794G>C c.(793-795)gGa>gCa p.G265A DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.G130A NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 265 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GCCCGGGCTGGACGGCTAAGG 0.627000 5 85 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248513002 248513002 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:248513002C>A ENST00000317861.1 + 1 926 c.926C>A c.(925-927)tCa>tAa p.S309* NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ATTTTTTATTCAGAAAATGTG 0.328000 17 91 0.00400662 0.00433527 1 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160274785 160274785 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:160274785G>C ENST00000264431.4 + 22 4174 c.3755G>C c.(3754-3756)tGc>tCc p.C1252S NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1252 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TGGACGTCATGCTCAAGTGGC 0.517000 12 136 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410054 159410054 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:159410054C>T ENST00000423932.3 + 1 543 c.506C>T c.(505-507)aCg>aTg p.T169M RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 169 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) GTAGCAATAACGCAAGTGACA 0.507000 64 185 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 439300 439300 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:439300C>G ENST00000432829.2 + 40 5247 c.4931C>G c.(4930-4932)cCt>cGt p.P1644R DOCK8_ENST00000453981.1_Missense_Mutation_p.P1712R|DOCK8_ENST00000469391.1_Missense_Mutation_p.P1612R|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1179R NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1712 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ACCCTGTCACCTGACGAGGAT 0.587000 13 87 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70488292 70488292 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:70488292G>T ENST00000260128.4 + 6 977 c.260G>T c.(259-261)tGc>tTc p.C87F SULF1_ENST00000458141.2_Missense_Mutation_p.C87F|SULF1_ENST00000402687.4_Missense_Mutation_p.C87F|SULF1_ENST00000419716.3_Missense_Mutation_p.C87F NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 87 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ACACCCATGTGCTGCCCGTCA 0.532000 8 54 0.00307968 0.00335571 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66467710 66467710 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:66467710C>G ENST00000273854.3 - 3 1159 c.559G>C c.(559-561)Gat>Cat p.D187H EPHA5_ENST00000432638.2_Missense_Mutation_p.D187H|EPHA5_ENST00000511294.1_Missense_Mutation_p.D187H|EPHA5_ENST00000354839.4_Missense_Mutation_p.D187H NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 187 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TCACCAAGATCAAGTTCTGTA 0.383000 TSP Lung(17;0.13) 13 148 0 0 1 0 0 WNT16 51384 broad.mit.edu 37 7 120969705 120969705 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:120969705C>A ENST00000222462.2 + 2 470 c.180C>A c.(178-180)tgC>tgA p.C60* WNT16_ENST00000361301.2_Nonsense_Mutation_p.C50* NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 60 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) AGGAGCTGTGCAAGAGGAAAC 0.617000 18 94 2.4624e-09 3.38511e-09 1 1 0 MON2 23041 broad.mit.edu 37 12 62936895 62936895 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:62936895G>T ENST00000393630.3 + 20 2774 c.2383G>T c.(2383-2385)Gtt>Ttt p.V795F MON2_ENST00000546600.1_Missense_Mutation_p.V795F|MON2_ENST00000393632.2_Missense_Mutation_p.V795F|MON2_ENST00000552115.1_Missense_Mutation_p.V795F|MON2_ENST00000393629.2_Missense_Mutation_p.V795F|MON2_ENST00000552738.1_Missense_Mutation_p.V772F|MON2_ENST00000280379.6_Missense_Mutation_p.V795F NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 795 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TCTTTTTGCTGTTGCCAAATT 0.343000 5 64 0.217242 0.221166 1 1 0 WDR62 284403 broad.mit.edu 37 19 36564398 36564398 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:36564398G>A ENST00000401500.2 + 9 1233 c.1198G>A c.(1198-1200)Gag>Aag p.E400K WDR62_ENST00000388999.3_Missense_Mutation_p.E400K|WDR62_ENST00000270301.7_Missense_Mutation_p.E400K|WDR62_ENST00000378860.4_3'UTR NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 400 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGTGTGGTCAGAGCTCTTCCA 0.587000 18 89 0 0 1 0 0 CMPK2 129607 broad.mit.edu 37 2 6991649 6991649 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:6991649C>T ENST00000256722.5 - 4 1157 c.1158G>A c.(1156-1158)ctG>ctA p.L386L CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000404168.1_Silent_p.L386L NM_207315.3 NP_997198.2 Q5EBM0 CMPK2_HUMAN cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 386 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCCGGCCCTGCAGCCTCTGCA 0.572000 9 79 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74838075 74838075 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:74838075C>T ENST00000358399.3 + 7 739 c.646C>T c.(646-648)Ctc>Ttc p.L216F GDA_ENST00000376989.3_Intron|GDA_ENST00000238018.4_Missense_Mutation_p.L216F|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Intron|GDA_ENST00000545168.1_Missense_Mutation_p.L142F NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 216 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) ACGTTTTTCCCTCTCCTGCTC 0.393000 12 67 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89448526 89448526 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:89448526G>T ENST00000336596.2 + 7 1715 c.1490G>T c.(1489-1491)aGt>aTt p.S497I EPHA3_ENST00000494014.1_Missense_Mutation_p.S497I|EPHA3_ENST00000452448.2_Missense_Mutation_p.S497I NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 497 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTTACCATCAGTAGCCTCAAG 0.418000 TSP Lung(6;0.00050) 11 67 0.000673444 0.000749615 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20618587 20618587 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:20618587G>T ENST00000504154.1 + 35 4154 c.3902G>T c.(3901-3903)gGa>gTa p.G1301V SLIT2_ENST00000503823.1_Missense_Mutation_p.G1293V|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1297V|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1314V NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1301 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GGGCAGAACGGAACCAGCTTC 0.582000 9 73 6.40141e-05 7.51681e-05 1 1 0 TGM6 343641 broad.mit.edu 37 20 2380966 2380966 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:2380966G>A ENST00000202625.2 + 7 926 c.865G>A c.(865-867)Ggg>Agg p.G289R TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Missense_Mutation_p.G289R NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 289 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CAGGTGCTTGGGGATAGCCAC 0.627000 11 80 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408399 47408399 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:47408399C>A ENST00000398879.1 - 17 2210 c.1844G>T c.(1843-1845)tGc>tTc p.C615F TNS3_ENST00000355730.3_Missense_Mutation_p.C375F|TNS3_ENST00000311160.9_Missense_Mutation_p.C615F Q68CZ2 TENS3_HUMAN tensin 3 615 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GTCTGCAGGGCAGCGGCTCAC 0.657000 11 100 1.58986e-06 2.00349e-06 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10466744 10466744 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:10466744G>A ENST00000382483.3 - 4 5087 c.4864C>T c.(4864-4866)Cgg>Tgg p.R1622W NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1622 intracellular signal transduction p.R1622W(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCCAGGGTCCGCTCAGAGAAG 0.716000 3 29 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49060478 49060478 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:49060478T>G ENST00000380950.2 - 15 2143 c.1956A>C c.(1954-1956)ttA>ttC p.L652F CEP152_ENST00000325747.5_Missense_Mutation_p.L559F|CEP152_ENST00000399334.3_Missense_Mutation_p.L652F NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 652 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTTGATTACATAAGTCTTGAT 0.343000 4 34 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778377 31778377 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:31778377A>T ENST00000375654.4 - 2 1562 c.1373T>A c.(1372-1374)cTg>cAg p.L458Q HSPA1L_ENST00000417199.3_Missense_Mutation_p.L458Q NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 458 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 AAACCGCCCCAGCAGGTTGTT 0.532000 50 124 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1538295 1538295 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:1538295G>A ENST00000381623.3 - 1 1194 c.5C>T c.(4-6)cCc>cTc p.P2L RP4-576H24.4_ENST00000564763.1_Intron|SIRPD_ENST00000381621.1_Missense_Mutation_p.P2L Q9H106 SIRPD_HUMAN signal-regulatory protein delta 2 extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 GGCAGGGATGGGCATTGTGGT 0.577000 8 90 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63019331 63019331 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:63019331G>T ENST00000561311.1 + 27 3531 c.3301G>T c.(3301-3303)Ggc>Tgc p.G1101C TLN2_ENST00000306829.6_Missense_Mutation_p.G1101C Q9Y4G6 TLN2_HUMAN talin 2 1101 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CAAGGCGGTGGGCTCCTCCAT 0.542000 5 47 0.248553 0.251802 1 1 0 COLEC11 78989 broad.mit.edu 37 2 3652038 3652038 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:3652038G>T ENST00000236693.7 + 2 254 c.20G>T c.(19-21)aGa>aTa p.R7I COLEC11_ENST00000418971.2_Missense_Mutation_p.Q50H|COLEC11_ENST00000382062.2_Missense_Mutation_p.Q36H|COLEC11_ENST00000349077.4_Missense_Mutation_p.Q36H|COLEC11_ENST00000487365.1_3'UTR NM_199235.2 NP_954705.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 0 collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) GCTCTGTGCAGATCCTCGTCC 0.632000 13 106 7.93312e-07 1.0079e-06 1 1 0 ADCY8 114 broad.mit.edu 37 8 131964215 131964215 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:131964215C>A ENST00000286355.5 - 3 3232 c.1140G>T c.(1138-1140)cgG>cgT p.R380R ADCY8_ENST00000377928.3_Silent_p.R380R NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 380 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGACAACAAACCGGGGGAGCA 0.542000 HNSCC(32;0.087) 7 79 2.0095e-06 2.51187e-06 1 1 0 MS4A4A 51338 broad.mit.edu 37 11 60075608 60075608 + Missense_Mutation SNP A A C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:60075608A>C ENST00000355131.3 + 8 843 c.620A>C c.(619-621)cAc>cCc p.H207P MS4A4A_ENST00000395016.3_Missense_Mutation_p.H207P|MS4A4A_ENST00000532114.1_Missense_Mutation_p.H173P|MS4A4A_ENST00000337908.4_Missense_Mutation_p.H226P NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 226 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 TCACATTCTCACATGGCAGAA 0.453000 8 88 0 0 1 0 0 RGS1 5996 broad.mit.edu 37 1 192547379 192547379 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:192547379T>A ENST00000367459.3 + 4 374 c.308T>A c.(307-309)cTa>cAa p.L103Q RGS1_ENST00000469578.2_Missense_Mutation_p.L103Q NM_002922.3 NP_002913.3 Q08116 RGS1_HUMAN regulator of G-protein signaling 1 103 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity kidney(8)|large_intestine(1)|lung(13) 22 Breast(1374;0.188) GGAAGTTTCCTAAAGTCTGAA 0.368000 15 159 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9324816 9324816 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:9324816C>A ENST00000308682.2 - 1 726 c.698G>T c.(697-699)gGc>gTc p.G233V NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TTTGTACTTGCCCTTGGTGGA 0.512000 13 63 0.00010058 0.000116997 1 1 0 SZT2 23334 broad.mit.edu 37 1 43906967 43906967 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:43906967G>T ENST00000562955.1 + 52 7256 c.7256G>T c.(7255-7257)cGg>cTg p.R2419L SZT2_ENST00000372442.1_Missense_Mutation_p.R1577L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2476 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ACTCGGGGCCGGAGGCGTCAC 0.557000 13 137 9.31168e-06 1.12759e-05 1 1 0 DMD 1756 broad.mit.edu 37 X 32404497 32404497 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:32404497G>A ENST00000357033.4 - 33 4810 c.4604C>T c.(4603-4605)aCg>aTg p.T1535M DMD_ENST00000378677.2_Missense_Mutation_p.T1531M NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1535 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGGATTTTCCGTCTGCTTTTT 0.383000 15 69 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36050797 36050797 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:36050797C>T ENST00000262623.3 - 7 994 c.966G>A c.(964-966)atG>atA p.M322I NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 322 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) AGCCAATGCACATGGCCACAA 0.552000 9 83 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037419 75037419 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:75037419G>T ENST00000326665.5 - 14 4193 c.3975C>A c.(3973-3975)aaC>aaA p.N1325K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1325 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTTTTGTGTGTTTCCTTCTC 0.562000 19 113 1.01871e-10 1.4757e-10 1 1 0 RASA1 5921 broad.mit.edu 37 5 86670002 86670002 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:86670002T>A ENST00000456692.2 + 14 1383 c.1268T>A c.(1267-1269)aTt>aAt p.I423N RASA1_ENST00000274376.6_Missense_Mutation_p.I600N|RASA1_ENST00000512763.1_Missense_Mutation_p.I433N|RASA1_ENST00000506290.1_Missense_Mutation_p.I434N NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 600 SH2 2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GTTTTACATATTGAAGAAGCC 0.318000 3 16 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245789 59245789 + Nonsense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:59245789C>G ENST00000530162.1 + 1 944 c.887C>G c.(886-888)tCa>tGa p.S296* NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S294*(1)|p.S296*(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGATGAAGTCAGCCATGAGG 0.428000 5 87 0 0 1 0 0 TRAV21 28662 broad.mit.edu 37 14 22521191 22521191 + RNA SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr14:22521191C>A ENST00000390449.3 + 0 219 CTTATTCAGTCAAGTCAGAGA 0.453000 9 37 0.000274275 0.000310879 1 1 0 AMER1 139285 broad.mit.edu 37 X 63410734 63410734 + Silent SNP G G T rs146952698 by1000genomes TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:63410734G>T ENST00000330258.3 - 2 2705 c.2433C>A c.(2431-2433)atC>atA p.I811I AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CCACATCAGCGATGTCAAAGG 0.517000 9 16 1.12685e-05 1.35924e-05 1 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 56 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197408055 197408055 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:197408055A>G ENST00000273582.5 - 17 2785 c.2240T>C c.(2239-2241)gTg>gCg p.V747A KIAA0226_ENST00000296343.5_Missense_Mutation_p.V792A|KIAA0226_ENST00000389665.5_Missense_Mutation_p.V817A NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 792 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TATGTCCTGCACGTTGAAGAG 0.512000 17 104 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108380319 108380319 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:108380319G>T ENST00000265843.4 - 6 6025 c.5915C>A c.(5914-5916)aCa>aAa p.T1972K EXPH5_ENST00000428840.1_Missense_Mutation_p.T1896K|EXPH5_ENST00000443411.1_Missense_Mutation_p.T1784K|EXPH5_ENST00000525344.1_Missense_Mutation_p.T1965K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1972 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) ATCTGTGGTTGTGTCTGTGTC 0.393000 26 186 1.75199e-13 2.6429e-13 1 1 0 MAST1 22983 broad.mit.edu 37 19 12949441 12949441 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:12949441G>A ENST00000251472.4 + 1 94 c.55G>A c.(55-57)Ggc>Agc p.G19S MAST1_ENST00000591495.1_Intron NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 19 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CTCCTTCCCCGGCGGCAGTAT 0.662000 3 33 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43214425 43214425 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:43214425G>A ENST00000259750.4 + 2 110 c.27G>A c.(25-27)aaG>aaA p.K9K NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 9 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCGCCCTTAAGGACGAAACCA 0.672000 11 29 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515704 51515704 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:51515704G>C ENST00000328188.1 + 1 423 c.423G>C c.(421-423)ctG>ctC p.L141L NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TGTGTGCCCTGCTAATGGGAG 0.473000 29 144 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117130723 117130723 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:117130723G>C ENST00000310357.3 - 2 273 c.252C>G c.(250-252)atC>atG p.I84M GPRC6A_ENST00000530250.1_Missense_Mutation_p.I84M|GPRC6A_ENST00000368549.3_Missense_Mutation_p.I84M NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 84 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTGAATTGTTGATCATCTCAA 0.378000 29 65 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771665 143771665 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:143771665C>A ENST00000408898.2 + 1 391 c.353C>A c.(352-354)tCc>tAc p.S118Y NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GTGGTGATGTCCTATGATCGG 0.488000 24 132 1.10923e-09 1.55242e-09 1 1 0 MRPS30 10884 broad.mit.edu 37 5 44809472 44809472 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:44809472G>C ENST00000507110.1 + 1 446 c.408G>C c.(406-408)gcG>gcC p.A136A NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 136 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) ctgaaccTGCGCTGGACCTCG 0.701000 4 19 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135870742 135870742 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:135870742G>T ENST00000264158.8 + 6 427 c.384G>T c.(382-384)gtG>gtT p.V128V RAB3GAP1_ENST00000539493.1_Silent_p.V84V|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.V128V NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 128 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) GTGAGTTCGTGGTGATTGCCC 0.423000 16 106 1.99824e-07 2.59729e-07 1 1 0 ANKRD54 129138 broad.mit.edu 37 22 38229018 38229018 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr22:38229018G>C ENST00000215941.4 - 6 859 c.667C>G c.(667-669)Ctg>Gtg p.L223V ANKRD54_ENST00000406423.1_Missense_Mutation_p.L103V|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Missense_Mutation_p.L207V NM_138797.2 NP_620152.1 Q6NXT1 ANR54_HUMAN ankyrin repeat domain 54 223 lung(1) 1 Melanoma(58;0.045) CCCTCCTGCAGGATATTCAGC 0.617000 5 44 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5744483 5744483 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:5744483C>T ENST00000546188.1 - 17 1725 c.1654G>A c.(1654-1656)Gtg>Atg p.V552M ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.V551M|ANO2_ENST00000356134.5_Missense_Mutation_p.V552M Q9NQ90 ANO2_HUMAN anoctamin 2 556 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TACACTATCACCCCAAAGACG 0.478000 8 40 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202462243 202462243 + Splice_Site SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:202462243G>C ENST00000406302.3 + 15 2096 c.1941_splice c.e15-1 p.G648_splice PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Splice_Site_p.G648_splice|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000391959.3_5'UTR NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B 648 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TTTTCCCAGGGTGTCACCCTA 0.463000 33 109 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563352 55563352 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:55563352C>A ENST00000335605.1 + 1 321 c.321C>A c.(319-321)tgC>tgA p.C107* NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TCCTGTCCTGCACTGCTGTGG 0.478000 13 53 2.27111e-07 2.94579e-07 1 1 0 MAML3 55534 broad.mit.edu 37 4 140811464 140811464 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:140811464C>A ENST00000509479.2 - 2 1982 c.1126G>T c.(1126-1128)Gcg>Tcg p.A376S MAML3_ENST00000327122.5_Missense_Mutation_p.A220S NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 376 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GAAGGCCTCGCCTGGGGAGAT 0.592000 7 97 1.06961e-07 1.41399e-07 1 1 0 TAF3 83860 broad.mit.edu 37 10 8007705 8007705 + Splice_Site SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:8007705A>T ENST00000344293.5 + 3 2438 c.2232_splice c.e3+1 p.K744_splice NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 744 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 AGCATGAAAAAGTAAGCAGTT 0.393000 6 69 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595934 140595934 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:140595934C>G ENST00000341948.4 + 1 2426 c.2239C>G c.(2239-2241)Cag>Gag p.Q747E NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 747 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACCCTATCCCAGAGCTACCA 0.622000 12 151 0 0 1 0 0 KLHL36 79786 broad.mit.edu 37 16 84690870 84690870 + Nonsense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:84690870G>T ENST00000564996.1 + 3 598 c.457G>T c.(457-459)Gag>Tag p.E153* KLHL36_ENST00000258157.5_Nonsense_Mutation_p.E153* NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 153 BACK. endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GTACCTGCAGGAGCTGGCCTC 0.582000 20 85 4.96729e-08 6.63733e-08 1 1 0 ADCY2 108 broad.mit.edu 37 5 7712986 7712986 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:7712986G>C ENST00000338316.4 + 11 1685 c.1596G>C c.(1594-1596)caG>caC p.Q532H ADCY2_ENST00000537121.1_Missense_Mutation_p.Q352H|RP11-711G10.1_ENST00000514105.2_RNA NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 532 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 CCATGGGTCAGCATAATTTTC 0.299000 6 51 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56300736 56300736 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:56300736A>T ENST00000443188.1 - 10 3253 c.2543T>A c.(2542-2544)aTc>aAc p.I848N NLRP11_ENST00000360133.3_Missense_Mutation_p.I794N|NLRP11_ENST00000589093.1_Missense_Mutation_p.I848N|NLRP11_ENST00000592953.1_Missense_Mutation_p.I749N|NLRP11_ENST00000589824.2_Missense_Mutation_p.I794N NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 848 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATATTGACAGATATCGCTGCT 0.408000 17 147 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1713004 1713004 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:1713004G>C ENST00000313871.3 + 2 845 c.649G>C c.(649-651)Gcc>Ccc p.A217P AKAP17A_ENST00000381261.3_Missense_Mutation_p.A217P NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 217 RRM. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 GAACTTCGAGGCCTATGTGCA 0.612000 21 163 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128359245 128359245 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:128359245C>G ENST00000392668.3 - 5 543 c.475G>C c.(475-477)Gag>Cag p.E159Q ETS1_ENST00000345075.4_Missense_Mutation_p.E115Q|ETS1_ENST00000531611.1_Missense_Mutation_p.E115Q|ETS1_ENST00000319397.5_Missense_Mutation_p.E115Q|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.1_Missense_Mutation_p.E115Q NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 115 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GGGGCCAGCTCGAGAAAGCAG 0.493000 19 190 0 0 1 0 0 AGPAT3 56894 broad.mit.edu 37 21 45389112 45389112 + Silent SNP C C T rs143039422 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr21:45389112C>T ENST00000398063.2 + 4 954 c.462C>T c.(460-462)acC>acT p.T154T AGPAT3_ENST00000291572.8_Silent_p.T154T|AGPAT3_ENST00000546158.1_Silent_p.T154T|AGPAT3_ENST00000398061.1_Silent_p.T154T|AGPAT3_ENST00000327505.2_Silent_p.T154T|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.T154T NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 154 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) ACCGGGACACCGTGGTCGAAG 0.627000 17 77 0 0 1 0 0 CLPTM1 1209 broad.mit.edu 37 19 45477825 45477825 + Nonsense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:45477825G>T ENST00000541297.2 + 4 862 c.397G>T c.(397-399)Gag>Tag p.E133* CLPTM1_ENST00000337392.5_Nonsense_Mutation_p.E147*|CLPTM1_ENST00000546079.1_Nonsense_Mutation_p.E45* O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 147 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CGGCTGCTACGAGCACTTTGC 0.577000 13 79 0.00244969 0.00267396 1 1 0 COL1A2 1278 broad.mit.edu 37 7 94057622 94057622 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:94057622C>A ENST00000297268.6 + 50 4015 c.3544C>A c.(3544-3546)Cct>Act p.P1182T NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1182 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTGGATTGACCCTAACCAAGG 0.383000 HNSCC(75;0.22) 23 184 5.45024e-15 8.36423e-15 1 1 0 DNAJC27 51277 broad.mit.edu 37 2 25180693 25180693 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:25180693C>A ENST00000264711.2 - 4 580 c.391G>T c.(391-393)Gtt>Ttt p.V131F DNAJC27_ENST00000468467.1_5'UTR|DNAJC27_ENST00000534855.1_Missense_Mutation_p.V60F NM_001198559.1|NM_016544.2 NP_001185488.1|NP_057628.1 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 131 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 TTGGCACAAACTACAAATATA 0.423000 17 107 3.52763e-06 4.32239e-06 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8500944 8500944 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:8500944G>A ENST00000381196.4 - 21 2481 c.1938C>T c.(1936-1938)tcC>tcT p.S646S PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Silent_p.S633S|PTPRD_ENST00000358503.5_Silent_p.S633S|PTPRD_ENST00000540109.1_Silent_p.S646S|PTPRD_ENST00000356435.5_Silent_p.S646S|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 646 Fibronectin type-III 4. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGTACTTGATGGAGTATTCAG 0.438000 TSP Lung(15;0.13) 22 151 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37186536 37186536 + RNA SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:37186536A>T ENST00000425901.2 + 0 378 NR_033753.2 AGATCCCCCTAAGGAGGTAGA 0.592000 91 37 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 888078 888078 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:888078A>G ENST00000456758.2 + 9 856 c.856A>G c.(856-858)Agg>Ggg p.R286G SUN1_ENST00000405266.1_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Intron O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 0 EMD-binding.|SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTACGTGAATAGGATTTTGTG 0.363000 35 173 0 0 1 0 0 ACY1 95 broad.mit.edu 37 3 52021460 52021460 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:52021460G>T ENST00000458031.2 + 13 1344 c.1113G>T c.(1111-1113)gtG>gtT p.V371V ACY1_ENST00000476854.1_Intron|ACY1_ENST00000476351.1_Silent_p.V246V|ABHD14A-ACY1_ENST00000463937.1_Silent_p.V382V|ACY1_ENST00000494103.1_Silent_p.V209V|ACY1_ENST00000404366.2_Silent_p.V281V Q03154 ACY1_HUMAN aminoacylase 1 281 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) CACCGGATGTGGACTTCAAGG 0.577000 4 45 0.000602214 0.000671534 1 1 0 CDC73 79577 broad.mit.edu 37 1 193121524 193121524 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:193121524A>G ENST00000367435.3 + 10 1106 c.922A>G c.(922-924)Aaa>Gaa p.K308E NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 308 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 GGAAGGCTTCAAAATTGACAC 0.323000 16 37 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78766949 78766949 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:78766949C>A ENST00000436010.2 - 4 1622 c.625G>T c.(625-627)Gaa>Taa p.E209* ROBO1_ENST00000495273.1_Nonsense_Mutation_p.E209*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.E209*|ROBO1_ENST00000464233.1_Nonsense_Mutation_p.E248* Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 248 Ig-like C2-type 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CTCTCACGTTCCCCAACCATA 0.363000 5 34 0.014758 0.0153781 1 1 0 PDIA4 9601 broad.mit.edu 37 7 148703051 148703051 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:148703051T>C ENST00000286091.4 - 8 1458 c.1226A>G c.(1225-1227)tAc>tGc p.Y409C NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 409 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) GCGCCTGGTGTAGCGCTTAGC 0.617000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 62 0 0 1 0 0 VPS11 55823 broad.mit.edu 37 11 118948671 118948671 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:118948671C>T ENST00000300793.6 + 11 1695 c.1653C>T c.(1651-1653)ctC>ctT p.L551L VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 552 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) GCAAGATCCTCATGCACCACA 0.532000 16 206 0 0 1 0 0 RGS4 5999 broad.mit.edu 37 1 163039171 163039171 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:163039171A>G ENST00000421743.2 + 2 348 c.188A>G c.(187-189)gAc>gGc p.D63G RGS4_ENST00000531057.1_5'UTR|RGS4_ENST00000367908.4_5'UTR|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_5'UTR|RGS4_ENST00000367909.6_5'UTR NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 0 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 GAGGATTCTGACAATATCTTT 0.517000 OREG0013952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 15 0 0 1 0 0 PLEKHF1 79156 broad.mit.edu 37 19 30164955 30164955 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:30164955A>G ENST00000436066.3 + 2 675 c.209A>G c.(208-210)aAc>aGc p.N70S PLEKHF1_ENST00000592810.1_Missense_Mutation_p.N70S NM_024310.4 NP_077286.3 Q96S99 PKHF1_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 1 70 PH. apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|lung(3)|ovary(1)|prostate(1) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) ATCGTGCTCAACAAGCGCAAG 0.592000 7 79 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899005 233899005 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:233899005C>T ENST00000233840.3 + 2 381 c.381C>T c.(379-381)gtC>gtT p.V127V NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 127 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) TGTGCCAAGTCACCAGCACTG 0.637000 11 68 0 0 1 0 0 HTR2B 3357 broad.mit.edu 37 2 231973824 231973824 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:231973824C>T ENST00000258400.3 - 4 1365 c.853G>A c.(853-855)Gat>Aat p.D285N PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR NM_000867.4 NP_000858.3 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 285 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) CGAGAACCATCCAGCATTGCC 0.468000 35 151 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17451904 17451904 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:17451904G>T ENST00000261381.6 - 2 451 c.367C>A c.(367-369)Cca>Aca p.P123T XYLT1_ENST00000568226.1_5'UTR NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 123 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTTGGGTGTGGATCCTGTAGG 0.418000 3 30 0.004672 0.00498561 1 1 0 TTN 7273 broad.mit.edu 37 2 179642521 179642521 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:179642521C>G ENST00000589042.1 - 25 4614 c.4390G>C c.(4390-4392)Gtt>Ctt p.V1464L TTN_ENST00000460472.2_Missense_Mutation_p.V1418L|TTN_ENST00000342175.6_Missense_Mutation_p.V1418L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V1464L|TTN_ENST00000342992.6_Missense_Mutation_p.V1464L|TTN_ENST00000591111.1_Missense_Mutation_p.V1464L|TTN_ENST00000359218.5_Missense_Mutation_p.V1418L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1464 Ig-like 6. 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) TTGAAAGAAACAGGTTTTAAC 0.443000 7 101 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130374009 130374009 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:130374009A>G ENST00000529410.1 + 9 934 c.455A>G c.(454-456)cAg>cGg p.Q152R L3MBTL3_ENST00000368139.2_Missense_Mutation_p.Q127R|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.Q127R|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.Q127R|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.Q152R|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.Q152R Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 152 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AACAGAGATCAGAAGGAAGAA 0.348000 12 42 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 6007177 6007177 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:6007177C>A ENST00000378156.4 - 9 1371 c.1106G>T c.(1105-1107)gGa>gTa p.G369V NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 369 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GCCGTCCACTCCTGCAGGGCT 0.542000 8 58 1 1 1 1 0 CD109 135228 broad.mit.edu 37 6 74475671 74475671 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:74475671G>C ENST00000437994.2 + 11 1557 c.1126G>C c.(1126-1128)Gat>Cat p.D376H CD109_ENST00000422508.2_Missense_Mutation_p.D299H|CD109_ENST00000287097.5_Missense_Mutation_p.D376H NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 376 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AACTCGTGCTGATGGCAACCA 0.368000 5 64 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30738815 30738815 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr22:30738815G>A ENST00000439242.1 - 5 641 c.510C>T c.(508-510)aaC>aaT p.N170N SF3A1_ENST00000215793.7_Silent_p.N235N NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 235 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 CTTCTCGGGGGTTTTCAGCCT 0.413000 8 61 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30925143 30925143 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:30925143G>T ENST00000597505.1 - 30 4395 c.4396C>A c.(4396-4398)Cgt>Agt p.R1466S DCDC1_ENST00000406071.2_Missense_Mutation_p.R201S|DCDC1_ENST00000339794.5_Missense_Mutation_p.R545S P59894 DCDC1_HUMAN doublecortin domain containing 1 227 intracellular signal transduction p.R153G(1)|p.R545G(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ACCAAATCACGCAAGGTAAAG 0.428000 7 15 0.0293803 0.0303092 1 1 0 CARD8 22900 broad.mit.edu 37 19 48725103 48725103 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:48725103C>A ENST00000391898.3 - 8 1087 c.1045G>T c.(1045-1047)Gat>Tat p.D349Y CARD8_ENST00000520015.1_Missense_Mutation_p.D349Y|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Missense_Mutation_p.D299Y|CARD8_ENST00000520753.1_Missense_Mutation_p.D349Y|CARD8_ENST00000447740.2_Missense_Mutation_p.D299Y|CARD8_ENST00000357778.5_Missense_Mutation_p.D74Y|CARD8_ENST00000519940.1_Missense_Mutation_p.D349Y|CARD8_ENST00000359009.4_Missense_Mutation_p.D243Y|CARD8_ENST00000520153.1_Missense_Mutation_p.D299Y NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 243 CARD. negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) TCTTCCTCATCATCTATCGCC 0.413000 5 49 3.59834e-05 4.26571e-05 1 1 0 TLR9 54106 broad.mit.edu 37 3 52257072 52257072 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:52257072C>A ENST00000494383.1 - 5 1719 c.1720G>T c.(1720-1722)Gga>Tga p.G574* TLR9_ENST00000360658.2_Silent_p.V420V|TLR9_ENST00000597542.1_Silent_p.V444V Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CCGACAGGTCCACGTAGCGCA 0.642000 24 118 1.85244e-09 2.55794e-09 1 1 0 CDKL4 344387 broad.mit.edu 37 2 39411790 39411790 + Splice_Site SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:39411790T>C ENST00000378803.1 - 7 735 c.e7-2 CDKL4_ENST00000395035.3_Splice_Site NM_001009565.1 NP_001009565.1 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) AAGAGTTTCCTGAAAAACAAG 0.323000 5 30 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33014337 33014337 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:33014337G>C ENST00000242209.4 + 2 499 c.330G>C c.(328-330)aaG>aaC p.K110N FKBP9_ENST00000538443.1_Intron|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.K163N NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 110 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GTTTCGTGAAGATTCCCCCAA 0.448000 15 96 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33716508 33716508 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:33716508C>A ENST00000336934.5 - 4 442 c.326G>T c.(325-327)cGa>cTa p.R109L STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000255486.4_Missense_Mutation_p.R101L|STARD13_ENST00000487412.1_5'UTR NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 109 SAM. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CGTATTTAGTCGTCTAAAAGG 0.358000 5 69 8.12818e-05 9.4727e-05 1 1 0 ACBD5 91452 broad.mit.edu 37 10 27497291 27497291 + Nonsense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:27497291T>A ENST00000396271.3 - 10 1414 c.1288A>T c.(1288-1290)Aga>Tga p.R430* ACBD5_ENST00000375901.1_Nonsense_Mutation_p.R321*|ACBD5_ENST00000375905.4_Nonsense_Mutation_p.R395*|ACBD5_ENST00000375888.1_Nonsense_Mutation_p.R439*|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Nonsense_Mutation_p.R253* NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 439 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CGGGACCCTCTGTCGGAGCCC 0.562000 22 118 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215751377 215751377 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:215751377G>T ENST00000259154.4 + 6 644 c.350G>T c.(349-351)cGt>cTt p.R117L NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 117 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.R117H(1) breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GAATTGGAGCGTTCCTCTTGT 0.343000 26 97 1.17739e-12 1.75056e-12 1 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19666685 19666685 + Nonsense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr21:19666685C>T ENST00000284885.3 - 21 2421 c.2388G>A c.(2386-2388)tgG>tgA p.W796* NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 796 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CAACCCAGGGCCAGGCCCCTT 0.527000 10 138 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76920161 76920161 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:76920161G>T ENST00000373344.5 - 11 4130 c.3916C>A c.(3916-3918)Caa>Aaa p.Q1306K ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q1268K NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1306 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCTTCATTTTGTTTTCCAGTT 0.368000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 56 3.09899e-07 3.99453e-07 1 1 0 CFHR3 10878 broad.mit.edu 37 1 196762604 196762604 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:196762604G>A ENST00000367425.4 + 6 1046 c.954G>A c.(952-954)gtG>gtA p.V318V CFHR3_ENST00000391985.3_Silent_p.V257V NM_021023.5 NP_066303.2 complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 TTCAAGCAGTGTGTCGGGAAG 0.378000 13 141 0 0 1 0 0 FOXC2 2303 broad.mit.edu 37 16 86601175 86601175 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:86601175C>G ENST00000320354.4 + 1 319 c.234C>G c.(232-234)atC>atG p.I78M RP11-463O9.5_ENST00000563280.1_RNA NM_005251.2 NP_005242.1 Q99958 FOXC2_HUMAN forkhead box C2 (MFH-1, mesenchyme forkhead 1) 78 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 15 ACAGCTACATCGCGCTCATCA 0.632000 Late-onset Hereditary Lymphedema 18 124 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103371735 103371735 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr14:103371735T>G ENST00000560371.1 + 11 1538 c.1321T>G c.(1321-1323)Tac>Gac p.Y441D TRAF3_ENST00000351691.5_Missense_Mutation_p.Y416D|TRAF3_ENST00000539721.1_Missense_Mutation_p.Y358D|TRAF3_ENST00000392745.2_Missense_Mutation_p.Y441D|TRAF3_ENST00000347662.4_Missense_Mutation_p.Y416D NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 441 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) CCTGTCCCTTTACAGCCAGCC 0.572000 14 72 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57938643 57938643 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:57938643C>T ENST00000564448.1 - 26 2671 c.2611G>A c.(2611-2613)Gga>Aga p.G871R CNGB1_ENST00000251102.8_Missense_Mutation_p.G877R Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 877 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GATACCTGTCCGATCATCACA 0.567000 12 165 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44590660 44590660 + Nonsense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:44590660C>G ENST00000421176.3 + 5 1245 c.1029C>G c.(1027-1029)taC>taG p.Y343* ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) AGAAACTATACAAATGTGAAG 0.373000 8 110 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64404627 64404627 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:64404627T>A ENST00000262043.3 + 6 2993 c.2653T>A c.(2653-2655)Tgc>Agc p.C885S PHF3_ENST00000393387.1_Missense_Mutation_p.C885S Q92576 PHF3_HUMAN PHD finger protein 3 885 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AACTGTTACTTGCACAGGAGA 0.333000 27 81 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17294470 17294470 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:17294470C>A ENST00000261381.6 - 4 1039 c.955G>T c.(955-957)Gag>Tag p.E319* NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 319 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGCATGTACTCCACGGAGTCC 0.567000 34 163 9.65963e-10 1.35804e-09 1 1 0 CLCN1 1180 broad.mit.edu 37 7 143048935 143048935 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:143048935G>T ENST00000343257.2 + 23 2931 c.2844G>T c.(2842-2844)gaG>gaT p.E948D NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 948 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GCAAGGTAGAGGGCGAGTTGG 0.657000 12 70 1.08611e-07 1.42667e-07 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92763046 92763046 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:92763046C>A ENST00000318238.4 - 5 3455 c.2239G>T c.(2239-2241)Ggt>Tgt p.G747C SAMD9L_ENST00000437805.1_Missense_Mutation_p.G747C|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G747C NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 747 p.G747C(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGTGTGGTACCTCCACAGCCT 0.378000 22 151 2.70639e-06 3.36265e-06 1 1 0 IER3 8870 broad.mit.edu 37 6 30711923 30711923 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:30711923G>A ENST00000376377.2 - 1 402 c.373C>T c.(373-375)Ctt>Ttt p.L125F IER3_ENST00000259874.5_Silent_p.L87L P46695 IEX1_HUMAN immediate early response 3 0 anatomical structure morphogenesis|anti-apoptosis|apoptosis integral to membrane protein binding NS(1) 1 GCAGCAGAAAGAGAAGCCTTT 0.627000 9 99 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46815502 46815502 + Silent SNP G G T rs147931736 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:46815502G>T ENST00000339613.2 + 7 942 c.687G>T c.(685-687)gcG>gcT p.A229A HIF3A_ENST00000300862.3_Silent_p.A283A|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000472815.1_Silent_p.A216A|HIF3A_ENST00000420102.2_Silent_p.A234A|HIF3A_ENST00000600383.1_Silent_p.A216A|HIF3A_ENST00000244303.6_Silent_p.A216A|HIF3A_ENST00000377670.4_Silent_p.A285A Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 285 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) ACTCCGATGCGGTCAGCAAGA 0.622000 28 128 1.2476e-16 1.93862e-16 1 1 0 ORAI3 93129 broad.mit.edu 37 16 30964924 30964924 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:30964924C>T ENST00000318663.4 + 2 871 c.647C>T c.(646-648)tCt>tTt p.S216F ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Missense_Mutation_p.S216F|AC135048.13_ENST00000566056.1_RNA NM_152288.2 NP_689501.1 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 3 216 integral to membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 TCCTCTGCGTCTGCAGCACCG 0.677000 OREG0023742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 278 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136143 55136143 + Nonsense_Mutation SNP C C T rs140143120 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:55136143C>T ENST00000314706.3 + 1 784 c.784C>T c.(784-786)Cga>Tga p.R262* NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GGAAGGGAAACGAAAAGCTTT 0.438000 29 119 0 0 1 0 0 NARF 26502 broad.mit.edu 37 17 80439066 80439066 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:80439066G>T ENST00000390006.4 + 7 1045 c.571G>T c.(571-573)Gct>Tct p.A191S NARF_ENST00000412079.2_Missense_Mutation_p.A122S|NARF_ENST00000309794.10_Missense_Mutation_p.A250S|NARF_ENST00000345415.7_Missense_Mutation_p.A202S|NARF_ENST00000457415.3_Missense_Mutation_p.A296S NM_001038618.2 NP_001033707.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor 250 lamin filament lamin binding p.A250T(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CTCCCGGGGCGCTGACTGCGT 0.582000 21 89 1.00905e-13 1.52588e-13 1 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110477324 110477324 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:110477324G>A ENST00000378402.5 + 49 8367 c.8263G>A c.(8263-8265)Gga>Aga p.G2755R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2755 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) TGTAGCTTTGGGAGTGACATC 0.468000 HNSCC(38;0.096) 17 83 0 0 1 0 0 CLDN25 644672 broad.mit.edu 37 11 113650646 113650646 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:113650646G>T ENST00000453129.2 + 1 178 c.129G>T c.(127-129)atG>atT p.M43I NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 43 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 TGAACGAGATGGAGACCTGGA 0.567000 21 130 1.01871e-10 1.4757e-10 1 1 0 LRP1 4035 broad.mit.edu 37 12 57578912 57578912 + Silent SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:57578912A>T ENST00000243077.3 + 40 6853 c.6387A>T c.(6385-6387)acA>acT p.T2129T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2129 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) ACAATGCCACAGACTCCGTGC 0.612000 6 92 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 4 47 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800547 185800547 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:185800547G>A ENST00000302277.6 + 4 1018 c.424G>A c.(424-426)Gtt>Att p.V142I NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 142 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ATCAACAACTGTTACTGTGAG 0.348000 8 78 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104187792 104187792 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:104187792G>T ENST00000374855.4 - 7 866 c.742C>A c.(742-744)Caa>Aaa p.Q248K NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 248 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) ATAGCTACTTGTTCTGGAGTA 0.512000 13 99 2.61681e-11 3.80851e-11 1 1 0 KEL 3792 broad.mit.edu 37 7 142639553 142639553 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:142639553G>T ENST00000355265.2 - 18 2479 c.2005C>A c.(2005-2007)Ccc>Acc p.P669T NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 669 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) ATCTGCTGGGGGCTGAGGTCC 0.577000 5 12 0.000602214 0.000671534 1 1 0 MEOX2 4223 broad.mit.edu 37 7 15666404 15666404 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:15666404C>G ENST00000262041.5 - 2 1066 c.657G>C c.(655-657)gaG>gaC p.E219D NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 219 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TCACTGCTATCTCGTATCGCC 0.413000 17 107 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33749699 33749699 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:33749699G>A ENST00000394562.1 - 4 872 c.349C>T c.(349-351)Ctg>Ttg p.L117L SLFN12_ENST00000304905.5_Silent_p.L117L|SLFN12_ENST00000452764.3_Silent_p.L117L Q8IYM2 SLN12_HUMAN schlafen family member 12 117 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTAATCCGCAGACCAGAGGTG 0.398000 6 87 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160146596 160146596 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:160146596A>T ENST00000357388.3 + 18 3112 c.2661A>T c.(2659-2661)ttA>ttT p.L887F RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.L887F|SMC4_ENST00000360111.2_Missense_Mutation_p.L887F|SMC4_ENST00000344722.5_Missense_Mutation_p.L887F|SMC4_ENST00000469762.1_Missense_Mutation_p.L862F NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 887 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTAAACGCTTACACAATACCA 0.313000 6 74 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197687287 197687287 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:197687287G>T ENST00000330198.4 + 1 217 c.195G>T c.(193-195)cgG>cgT p.R65R LMLN_ENST00000482695.1_Intron|LMLN_ENST00000332636.5_Intron|LMLN_ENST00000420910.2_Silent_p.R65R NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 65 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CTCCCTGCCGGCACCACGTCC 0.647000 8 53 3.09899e-07 3.99453e-07 1 1 0 ZNF451 26036 broad.mit.edu 37 6 57006773 57006773 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:57006773C>G ENST00000370706.4 + 9 1128 c.884C>G c.(883-885)tCt>tGt p.S295C RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S295C|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S295C|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CATCCAATATCTTTCCCATCT 0.403000 5 56 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49088147 49088147 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:49088147C>T ENST00000376265.2 - 2 329 c.268G>A c.(268-270)Gag>Aag p.E90K CACNA1F_ENST00000376251.1_Missense_Mutation_p.E25K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E90K NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 90 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TGCTTCCACTCCACGATGCTG 0.622000 13 35 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861878 14861878 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:14861878G>T ENST00000285046.5 + 1 1410 c.1300G>T c.(1300-1302)Gtg>Ttg p.V434L FGD5_ENST00000543601.1_Missense_Mutation_p.V193L NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 434 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGTGATGGGAGTGGGCCTGCC 0.642000 4 24 0.00909568 0.00962342 1 1 0 KMT2E 55904 broad.mit.edu 37 7 104748284 104748284 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:104748284A>G ENST00000334877.4 + 22 3914 c.3380A>G c.(3379-3381)gAt>gGt p.D1127G KMT2E_ENST00000257745.4_Missense_Mutation_p.D1127G|KMT2E_ENST00000311117.3_Missense_Mutation_p.D1127G|KMT2E_ENST00000334914.7_Missense_Mutation_p.D182G lysine (K)-specific methyltransferase 2E ACTTCCGAAGATGGGCTTGTA 0.433000 5 49 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5922650 5922650 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:5922650C>T ENST00000399933.3 - 8 3345 c.3346G>A c.(3346-3348)Gaa>Aaa p.E1116K KIAA2026_ENST00000381461.2_Missense_Mutation_p.E1086K NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1116 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) GCTTTTCCTTCTTTATGCTGA 0.368000 8 131 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887762 25887762 + Silent SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:25887762T>A ENST00000376351.3 + 11 3566 c.3207T>A c.(3205-3207)gcT>gcA p.A1069A GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1069 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TAGATAAGGCTGAAGTATGCC 0.463000 19 131 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688868 26688868 + Silent SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr22:26688868C>G ENST00000529632.2 + 2 787 c.591C>G c.(589-591)ccC>ccG p.P197P SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Silent_p.P197P|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.P197P|SEZ6L_ENST00000343706.4_Silent_p.P197P|SEZ6L_ENST00000248933.6_Silent_p.P197P NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 197 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTACAACACCCGCACCCCTGC 0.672000 22 101 0 0 1 0 0 PSAPL1 768239 broad.mit.edu 37 4 7436099 7436099 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:7436099G>A ENST00000319098.4 - 1 601 c.508C>T c.(508-510)Ccc>Tcc p.P170S SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 170 sphingolipid metabolic process extracellular region|lysosome lung(4) 4 AAGGTAAGGGGCCCATTGGCC 0.637000 6 14 0 0 1 0 0 RFC1 5981 broad.mit.edu 37 4 39304215 39304215 + Splice_Site SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:39304215C>T ENST00000381897.1 - 18 2477 c.2343_splice c.e18-1 p.G782_splice RFC1_ENST00000349703.2_Splice_Site_p.G781_splice NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 782 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 ATCATAGCACCCTGAAATTGA 0.318000 9 54 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52439610 52439610 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:52439610C>T ENST00000242819.4 + 2 392 c.96C>T c.(94-96)tcC>tcT p.S32S NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 32 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) TGGCGGCATCCTCTCCCAGTA 0.507000 10 93 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118375038 118375038 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:118375038C>T ENST00000534358.1 + 27 8454 c.8431C>T c.(8431-8433)Cgc>Tgc p.R2811C KMT2A_ENST00000389506.5_Missense_Mutation_p.R2808C|KMT2A_ENST00000354520.4_Missense_Mutation_p.R2770C NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GGAGTCAAGCCGCAGAGTCCA 0.438000 10 195 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188034 57188034 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:57188034C>T ENST00000331162.4 - 5 1358 c.1088G>A c.(1087-1089)aGc>aAc p.S363N NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CGAGGATAAGCTAAAGGCTTG 0.443000 5 43 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231307808 231307808 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:231307808G>A ENST00000264052.5 + 3 619 c.264G>A c.(262-264)atG>atA p.M88I SP100_ENST00000427101.2_Missense_Mutation_p.M63I|SP100_ENST00000409897.1_Missense_Mutation_p.M53I|SP100_ENST00000409341.1_Missense_Mutation_p.M88I|SP100_ENST00000409824.1_Missense_Mutation_p.M63I|SP100_ENST00000340126.4_Missense_Mutation_p.M88I|SP100_ENST00000341950.4_Missense_Mutation_p.M88I|SP100_ENST00000409112.1_Missense_Mutation_p.M88I NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 88 HSR. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CAAATAAAATGTTTGAAGTAA 0.358000 18 85 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 7 102 0 0 1 0 0 FOXF2 2295 broad.mit.edu 37 6 1390753 1390753 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:1390753C>T ENST00000259806.1 + 1 685 c.571C>T c.(571-573)Cgc>Tgc p.R191C NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 191 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CTCGTTCCGCCGCCGGCCGCG 0.701000 17 51 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186123036 186123036 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:186123036C>A ENST00000271588.4 + 97 15402 c.15173C>A c.(15172-15174)aCa>aAa p.T5058K HMCN1_ENST00000367492.2_Missense_Mutation_p.T5058K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5058 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTGGTTGAAACACTTCATGCA 0.413000 8 64 0.000157383 0.000181035 1 1 0 SLC9A4 389015 broad.mit.edu 37 2 103136408 103136408 + Silent SNP G G T rs142475556 byFrequency TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:103136408G>T ENST00000295269.4 + 9 2269 c.1812G>T c.(1810-1812)cgG>cgT p.R604R NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 604 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ACCAAGTTCGGCAAAGGGTGT 0.468000 12 73 3.07112e-06 3.79301e-06 1 1 0 CDC45 8318 broad.mit.edu 37 22 19504397 19504397 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr22:19504397C>T ENST00000407835.1 + 18 1873 c.1617C>T c.(1615-1617)caC>caT p.H539H CDC45_ENST00000437685.2_Silent_p.H571H|CDC45_ENST00000263201.1_Silent_p.H539H|CDC45_ENST00000404724.3_Silent_p.H493H O75419 CDC45_HUMAN cell division cycle 45 539 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 GGATGCTGCACAACCATTTTG 0.572000 10 46 0 0 1 0 0 FAM49B 51571 broad.mit.edu 37 8 130863099 130863099 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:130863099C>G ENST00000519824.2 - 9 968 c.695G>C c.(694-696)aGa>aCa p.R232T FAM49B_ENST00000522941.1_Missense_Mutation_p.R86T|FAM49B_ENST00000517654.1_Missense_Mutation_p.R232T|FAM49B_ENST00000519110.1_Missense_Mutation_p.R232T|FAM49B_ENST00000519540.1_Missense_Mutation_p.R232T|FAM49B_ENST00000522746.1_Missense_Mutation_p.R232T|FAM49B_ENST00000401979.2_Missense_Mutation_p.R232T|FAM49B_ENST00000523509.1_Missense_Mutation_p.R232T|FAM49B_ENST00000522250.1_Missense_Mutation_p.R86T NM_016623.4 NP_057707.3 Q9NUQ9 FA49B_HUMAN family with sequence similarity 49, member B 232 kidney(1)|large_intestine(6)|lung(4)|prostate(1) 12 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) CAGCATGACTCTGCATACACT 0.323000 8 60 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51923123 51923123 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:51923123G>C ENST00000371117.3 - 16 1785 c.1510C>G c.(1510-1512)Cag>Gag p.Q504E PKHD1_ENST00000340994.4_Missense_Mutation_p.Q504E NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 504 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACACAGACCTGTACTTCTGGA 0.547000 26 94 0 0 1 0 0 RNF122 79845 broad.mit.edu 37 8 33406305 33406305 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:33406305T>C ENST00000256257.1 - 6 835 c.434A>G c.(433-435)cAg>cGg p.Q145R NM_024787.2 NP_079063.2 Q9H9V4 RN122_HUMAN ring finger protein 122 145 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) CCCAATGTTCTGCGTGGCCTC 0.532000 32 155 0 0 1 0 0 CCDC81 60494 broad.mit.edu 37 11 86108726 86108726 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:86108726G>C ENST00000278487.3 + 6 1127 c.48G>C c.(46-48)gaG>gaC p.E16D CCDC81_ENST00000354755.1_Missense_Mutation_p.E143D|CCDC81_ENST00000528728.1_Missense_Mutation_p.E16D|CCDC81_ENST00000445632.2_Missense_Mutation_p.E233D Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 233 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) AATGTGGAGAGAATAGAGAAA 0.433000 4 73 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56782199 56782199 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:56782199G>A ENST00000569842.1 + 2 136 c.40G>A c.(40-42)Gaa>Aaa p.E14K NUP93_ENST00000308159.5_Missense_Mutation_p.E14K Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 14 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.E14K(3) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TCAGCAAGCTGAACAGCTTGC 0.517000 10 74 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44132864 44132864 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:44132864T>G ENST00000260665.7 - 31 3388 c.3331A>C c.(3331-3333)Atc>Ctc p.I1111L NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 1111 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGCGTTATGATGAGGCGGCTG 0.453000 14 78 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881903 228881903 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:228881903G>T ENST00000392056.3 - 7 3713 c.3667C>A c.(3667-3669)Ctg>Atg p.L1223M SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1223M NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1223 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGAGACAGCAGGCCGGCTGTC 0.567000 19 112 8.28177e-16 1.27729e-15 1 1 0 GRID2 2895 broad.mit.edu 37 4 94690559 94690559 + Silent SNP G G T rs151216204 byFrequency TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:94690559G>T ENST00000282020.4 + 15 2817 c.2559G>T c.(2557-2559)acG>acT p.T853T GRID2_ENST00000510992.1_Silent_p.T758T NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 853 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGCTGGAGACGTGGTGGAACA 0.493000 15 81 1.49906e-05 1.79424e-05 1 1 0 LRRC18 474354 broad.mit.edu 37 10 50118298 50118298 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:50118298C>G ENST00000374160.3 - 2 846 c.770G>C c.(769-771)cGc>cCc p.R257P RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 257 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 AGATGTCAAGCGTATTCTGGG 0.502000 14 78 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175297 57175297 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:57175297C>T ENST00000537055.2 - 2 1501 c.1270G>A c.(1270-1272)Ggc>Agc p.G424S NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 AAAGCTTTGCCGCACTCGCCG 0.667000 15 55 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777454 123777454 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:123777454G>T ENST00000321355.2 + 1 346 c.316G>T c.(316-318)Gtt>Ttt p.V106F NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TTTTTTCTGTGTTTGTGTTAT 0.458000 15 229 0.00316338 0.00342884 1 1 0 SGIP1 84251 broad.mit.edu 37 1 67147557 67147557 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:67147557G>A ENST00000371037.4 + 15 897 c.820G>A c.(820-822)Gac>Aac p.D274N SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.D278N NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 274 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CACAGGAAATGACCAGTCAGC 0.408000 5 112 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50368765 50368765 + Silent SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:50368765A>T ENST00000394688.3 - 7 903 c.744T>A c.(742-744)gcT>gcA p.A248A BRD7_ENST00000394689.2_Silent_p.A248A Q9NPI1 BRD7_HUMAN bromodomain containing 7 248 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) TCTGCAAGTCAGCCATGAAGT 0.423000 19 83 0 0 1 0 0 STIL 6491 broad.mit.edu 37 1 47746353 47746353 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:47746353G>A ENST00000360380.3 - 13 2140 c.1777C>T c.(1777-1779)Cca>Tca p.P593S STIL_ENST00000396221.2_Missense_Mutation_p.P593S|STIL_ENST00000371877.3_Missense_Mutation_p.P593S|STIL_ENST00000243182.6_Missense_Mutation_p.P593S|STIL_ENST00000337817.5_Missense_Mutation_p.P593S Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 593 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GATGGCAGTGGGGGAGTAGGT 0.448000 10 171 0 0 1 0 0 IGLV1-50 28821 broad.mit.edu 37 22 22682066 22682066 + RNA SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr22:22682066T>G ENST00000390291.2 + 0 299 CCTGACCAATTCTCTGGCTCC 0.542000 22 218 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11756756 11756756 + Splice_Site SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:11756756G>T ENST00000381486.2 + 21 3622 c.e21-1 GREB1_ENST00000396123.1_Splice_Site|GREB1_ENST00000234142.5_Splice_Site NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TTTTGGAACAGGCTCTACCTC 0.532000 40 270 1.57019e-19 2.50262e-19 1 1 0 DSCAM 1826 broad.mit.edu 37 21 41710195 41710195 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr21:41710195T>C ENST00000400454.1 - 8 2093 c.1616A>G c.(1615-1617)aAg>aGg p.K539R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 539 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTTAGAGTTCTTGTACCATTT 0.443000 18 86 0 0 1 0 0 DCBLD2 131566 broad.mit.edu 37 3 98568333 98568333 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:98568333C>A ENST00000326840.6 - 3 905 c.543G>T c.(541-543)ttG>ttT p.L181F DCBLD2_ENST00000469648.1_5'UTR|DCBLD2_ENST00000326857.9_Missense_Mutation_p.L181F NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 181 CUB. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 AGTATGAGGCCAAAAATCCGC 0.348000 5 90 1 1 1 1 0 ZFP36 7538 broad.mit.edu 37 19 39899295 39899295 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:39899295C>T ENST00000597629.1 + 2 1029 c.955C>T c.(955-957)Ccc>Tcc p.P319S ZFP36_ENST00000248673.3_Missense_Mutation_p.P313S P26651 TTP_HUMAN ZFP36 ring finger protein 313 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGTGGCAGCCCCCCGGCGACT 0.622000 10 43 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165277 139165277 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:139165277C>A ENST00000395297.1 - 13 1611 c.1441G>T c.(1441-1443)Gag>Tag p.E481* NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 481 p.E481*(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCACCTGGCTCTGGACACCTT 0.393000 HNSCC(54;0.14) 13 61 0.00136819 0.00150404 1 1 0 CELSR2 1952 broad.mit.edu 37 1 109806904 109806904 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:109806904G>T ENST00000271332.3 + 10 5267 c.5206G>T c.(5206-5208)Ggt>Tgt p.G1736C NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1736 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCGGCTGCATGGTCTGCACCT 0.657000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 88 3.41278e-10 4.88666e-10 1 1 0 NUP98 4928 broad.mit.edu 37 11 3746414 3746414 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:3746414T>C ENST00000324932.7 - 15 2186 c.1766A>G c.(1765-1767)aAt>aGt p.N589S NUP98_ENST00000397004.4_Missense_Mutation_p.N589S|NUP98_ENST00000397007.4_Missense_Mutation_p.N606S|NUP98_ENST00000359171.4_Missense_Mutation_p.N589S|NUP98_ENST00000355260.3_Missense_Mutation_p.N589S NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 606 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) ATTGCTATTATTAAGGTTCTT 0.338000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 14 71 0 0 1 0 0 FOXO1 2308 broad.mit.edu 37 13 41134875 41134875 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:41134875C>A ENST00000379561.5 - 2 1137 c.753G>T c.(751-753)agG>agT p.R251S NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 251 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) CAGCTCTTCTCCTAGGAGATT 0.507000 16 102 1.45105e-14 2.21045e-14 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228487601 228487601 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:228487601T>A ENST00000570156.2 + 51 13567 c.13493T>A c.(13492-13494)aTa>aAa p.I4498K OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.I1188K|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3541 Ig-like 46. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCAGATTCATAGAGGATATG 0.517000 28 88 0 0 1 0 0 CLEC10A 10462 broad.mit.edu 37 17 6980286 6980286 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:6980286G>T ENST00000576617.1 - 4 474 c.205C>A c.(205-207)Ctg>Atg p.L69M CLEC10A_ENST00000254868.4_Missense_Mutation_p.L69M|CLEC10A_ENST00000416562.2_Missense_Mutation_p.L69M|CLEC10A_ENST00000571664.1_Missense_Mutation_p.L69M Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 69 endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 AGGGTCACCAGGTCCCTCTGA 0.532000 18 64 1.02788e-11 1.4995e-11 1 1 0 CARD9 64170 broad.mit.edu 37 9 139261262 139261262 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:139261262G>C ENST00000371732.5 - 10 1512 c.1347C>G c.(1345-1347)ctC>ctG p.L449L CARD9_ENST00000371734.3_Silent_p.L449L|CARD9_ENST00000460290.1_5'UTR NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 449 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) CTTTGTCTGAGAGCTGGGTGT 0.612000 7 94 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111758468 111758468 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:111758468C>T ENST00000261726.6 + 17 2809 c.2655C>T c.(2653-2655)ccC>ccT p.P885P NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 885 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CGCTGACCCCCGAGCAGTACG 0.677000 5 16 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8376571 8376571 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:8376571G>A ENST00000332175.8 + 24 4436 c.3399G>A c.(3397-3399)cgG>cgA p.R1133R PTPRM_ENST00000444013.1_Silent_p.R920R|PTPRM_ENST00000400053.4_Silent_p.R1071R|PTPRM_ENST00000400060.4_Silent_p.R1147R|PTPRM_ENST00000580170.1_Silent_p.R1146R NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1133 Tyrosine-protein phosphatase 1. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TGCGGTCACGGAGGGTGAACA 0.577000 6 64 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290658 78290658 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:78290658G>T ENST00000300584.3 - 13 2735 c.2736C>A c.(2734-2736)ttC>ttA p.F912L TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000409931.3_Intron NM_015079.5|NM_144572.1 NP_055894.6|NP_653173.1 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 912 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GGCGTAGGGGGAAAGGGTTCA 0.607000 3 13 0.00909568 0.00962342 1 1 0 HNRNPA3 220988 broad.mit.edu 37 2 178080266 178080266 + Splice_Site SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:178080266G>T ENST00000411529.2 + 2 57 c.e2-1 HNRNPA3_ENST00000435711.1_Splice_Site|HNRNPA3_ENST00000392524.2_Splice_Site NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 CTTTCTCTCAGGGCCATGATC 0.358000 22 96 3.8784e-16 6.01153e-16 1 1 0 CD200R1L 344807 broad.mit.edu 37 3 112545958 112545958 + Nonsense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:112545958C>T ENST00000488794.1 - 6 1087 c.498G>A c.(496-498)tgG>tgA p.W166* CD200R1L_ENST00000398214.1_Nonsense_Mutation_p.W187*|CD200R1L_ENST00000448932.1_Nonsense_Mutation_p.W166* Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 187 Ig-like C2-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TGCCATTGCCCCAGTATTCTT 0.517000 13 35 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427515 119427515 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:119427515C>A ENST00000369429.3 - 8 1658 c.1649G>T c.(1648-1650)gGg>gTg p.G550V TBX15_ENST00000207157.3_Missense_Mutation_p.G444V Q96SF7 TBX15_HUMAN T-box 15 550 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TCCAAAGGCCCCGTTGGAAGG 0.517000 6 77 0.00198382 0.00217309 1 1 0 OR7A17 26333 broad.mit.edu 37 19 14991322 14991322 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:14991322G>T ENST00000327462.2 - 1 942 c.846C>A c.(844-846)acC>acA p.T282T NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) TCAGCATGGGGGTGGCCACAG 0.453000 18 69 2.94398e-08 3.96798e-08 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50850546 50850546 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:50850546C>A ENST00000404971.1 - 7 2478 c.1139G>T c.(1138-1140)gGa>gTa p.G380V NRXN1_ENST00000406859.3_Missense_Mutation_p.G347V|NRXN1_ENST00000406316.2_Missense_Mutation_p.G347V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G347V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.G347V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G347V NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 347 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.G381E(1)|p.G380E(1)|p.G347E(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGCCCCTGATCCCAAATTAAT 0.458000 20 127 1.33834e-09 1.85631e-09 1 1 0 SYNCRIP 10492 broad.mit.edu 37 6 86349987 86349987 + Silent SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:86349987C>G ENST00000355238.6 - 4 533 c.327G>C c.(325-327)ggG>ggC p.G109G SYNCRIP_ENST00000369622.3_Silent_p.G109G NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 109 CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) CTACTTTGGTCCCTTGTTTTT 0.328000 8 123 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372632 126372632 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:126372632C>A ENST00000394329.3 + 9 10474 c.10461C>A c.(10459-10461)acC>acA p.T3487T FAT4_ENST00000335110.5_Silent_p.T1785T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3487 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATTCAGGGACCCCCTCAGCTA 0.453000 13 156 0.00185496 0.00203553 1 1 0 SLC45A2 51151 broad.mit.edu 37 5 33947387 33947387 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:33947387G>A ENST00000382102.3 - 6 1306 c.1249C>T c.(1249-1251)Ctc>Ttc p.L417F SLC45A2_ENST00000342059.3_Missense_Mutation_p.L358F|SLC45A2_ENST00000296589.4_Missense_Mutation_p.L417F NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 417 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 TTCGGGAAGAGCCCAATAAAT 0.478000 26 165 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162468 33162468 + RNA SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:33162468G>A ENST00000510327.1 - 0 346 GAGGTTGGACGTGGGGGAATT 0.522000 6 66 0 0 1 0 0 SP3 6670 broad.mit.edu 37 2 174828613 174828613 + Splice_Site SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:174828613T>G ENST00000310015.6 - 3 687 c.e3-2 SP3_ENST00000418194.2_5'UTR|SP3_ENST00000455789.2_Intron NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) CTGAGTGTCCTACCCCCAATG 0.706000 6 23 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101825111 101825111 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:101825111C>A ENST00000370418.3 - 4 844 c.593G>T c.(592-594)cGg>cTg p.R198L NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 198 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.R198Q(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) GATCACCGCCCGGGTCTCGGG 0.577000 9 37 1.76689e-08 2.38665e-08 1 1 0 GDF9 2661 broad.mit.edu 37 5 132199939 132199939 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:132199939T>C ENST00000378673.2 - 2 1153 c.287A>G c.(286-288)tAt>tGt p.Y96C GDF9_ENST00000296875.2_Missense_Mutation_p.Y96C|GDF9_ENST00000464378.1_5'UTR O60383 GDF9_HUMAN growth differentiation factor 9 96 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTGGTAGCATATGTCTTATA 0.517000 25 86 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89828400 89828400 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:89828400G>A ENST00000389301.3 - 29 2839 c.2809C>T c.(2809-2811)Ctg>Ttg p.L937L FANCA_ENST00000568369.1_Silent_p.L937L NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 937 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TGAATTTCCAGCTCCAGGTGT 0.443000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 124 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63967119 63967119 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:63967119T>A ENST00000443617.2 - 38 7355 c.7268A>T c.(7267-7269)gAg>gTg p.E2423V NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 2423 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CCCTTTCTCCTCGGATTCATG 0.473000 13 130 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139606339 139606339 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:139606339G>T ENST00000303045.6 - 63 4982 c.4536C>A c.(4534-4536)ggC>ggA p.G1512G COL22A1_ENST00000435777.1_Silent_p.G1492G|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1512 Collagen-like 15.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGCCGGCCCGGCCTGGAAGCC 0.667000 HNSCC(7;0.00092) 8 54 0.27861 0.280876 1 1 0 DUSP10 11221 broad.mit.edu 37 1 221879722 221879722 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:221879722C>A ENST00000366899.3 - 3 1136 c.898G>T c.(898-900)Gca>Tca p.A300S DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000468085.1_5'UTR NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 300 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) GCCGCGGATGCGCCGCCCCCC 0.577000 6 130 0.00116845 0.00128674 1 1 0 SLC35G2 80723 broad.mit.edu 37 3 136573597 136573597 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:136573597T>A ENST00000446465.2 + 2 923 c.295T>A c.(295-297)Ttt>Att p.F99I RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.F99I|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 99 Golgi apparatus|integral to membrane AAAAAACATTTTTCAATCCCG 0.423000 29 136 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242163566 242163566 + Nonstop_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:242163566T>C ENST00000274979.8 + 25 2903 c.2800T>C c.(2800-2802)Tga>Cga p.*934R NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 0 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GCTGCAGCAGTGACGCCTGGA 0.637000 5 40 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23701584 23701584 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:23701584C>A ENST00000397312.2 - 5 780 c.506G>T c.(505-507)gGg>gTg p.G169V ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198V|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169V|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169V|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169V NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 169 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TCGAATAAACCCTACACCCCT 0.428000 17 110 0.000566183 0.000637085 1 1 0 GADD45GIP1 90480 broad.mit.edu 37 19 13065227 13065227 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:13065227C>A ENST00000316939.1 - 2 487 c.464G>T c.(463-465)cGa>cTa p.R155L NM_052850.2 NP_443082.2 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma interacting protein 1 155 cell cycle|interspecies interaction between organisms nucleus protein binding ovary(2)|prostate(1)|skin(1) 4 AGCCTGCAGTCGGGCCCTCCT 0.627000 19 72 6.94344e-10 9.78394e-10 1 1 0 LRBA 987 broad.mit.edu 37 4 151770091 151770091 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:151770091A>T ENST00000535741.1 - 26 4691 c.4218T>A c.(4216-4218)ttT>ttA p.F1406L LRBA_ENST00000507224.1_Missense_Mutation_p.F1406L|LRBA_ENST00000357115.3_Missense_Mutation_p.F1406L|LRBA_ENST00000510413.1_Missense_Mutation_p.F1406L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1406 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GCCTCTGCAAAAATGTCACAG 0.338000 11 120 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77093236 77093236 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:77093236C>A ENST00000328299.3 + 4 871 c.723C>A c.(721-723)acC>acA p.T241T NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 241 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TAAATGACACCTACTGCAAGT 0.408000 25 97 1.85244e-09 2.55794e-09 1 1 0 HMCN1 83872 broad.mit.edu 37 1 185972977 185972977 + Splice_Site SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:185972977G>T ENST00000271588.4 + 29 4704 c.e29+1 HMCN1_ENST00000367492.2_Splice_Site NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AAGATGGCAAGTGAGTATCTT 0.388000 15 72 1.52009e-12 2.25468e-12 1 1 0 OR10G4 390264 broad.mit.edu 37 11 123886663 123886663 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:123886663C>G ENST00000320891.4 + 1 382 c.382C>G c.(382-384)Ccg>Gcg p.P128A NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CATCAGTTACCCGCTCAGGTA 0.557000 24 167 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80767500 80767500 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:80767500G>A ENST00000533983.1 + 6 864 c.525G>A c.(523-525)caG>caA p.Q175Q ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Silent_p.Q186Q|ARNT2_ENST00000527771.1_Silent_p.Q175Q Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 186 PAS 1. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TGTATGAACAGGTGCATCCTG 0.522000 7 129 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657159 40657159 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:40657159T>A ENST00000406785.1 - 2 451 c.262A>T c.(262-264)Atg>Ttg p.M88L SLC8A1_ENST00000408028.2_Missense_Mutation_p.M88L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.M88L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.M88L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M88L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.M88L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.M88L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M88L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.M88L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.M88L P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 88 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.M88L(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCAAGAAACATGTAGACCATG 0.413000 18 128 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64394906 64394906 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:64394906C>G ENST00000262043.3 + 4 1623 c.1283C>G c.(1282-1284)aCt>aGt p.T428S PHF3_ENST00000509330.1_Missense_Mutation_p.T428S|PHF3_ENST00000393387.1_Missense_Mutation_p.T428S Q92576 PHF3_HUMAN PHD finger protein 3 428 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GATACTAGTACTTTTGGACCG 0.363000 27 144 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55968070 55968070 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:55968070T>C ENST00000263923.4 - 15 2555 c.2260A>G c.(2260-2262)Ata>Gta p.I754V NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 754 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGACCTTCTATTATGAAAAAT 0.463000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 4 68 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552626 1552626 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:1552626G>T ENST00000381605.4 - 3 555 c.491C>A c.(490-492)aCa>aAa p.T164K SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 164 Ig-like C1-type 1. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GAAGCTCACTGTGTGCTCAGG 0.542000 24 119 2.70639e-06 3.36265e-06 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140996384 140996384 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:140996384C>A ENST00000285879.4 + 4 3480 c.3194C>A c.(3193-3195)cCt>cAt p.P1065H MAGEC1_ENST00000406005.2_Missense_Mutation_p.P132H NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1065 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTTCTCCTCCTCGTTACGAA 0.498000 HNSCC(15;0.026) 35 73 8.73648e-17 1.36096e-16 1 1 0 TMEM132D 121256 broad.mit.edu 37 12 129558589 129558589 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:129558589C>A ENST00000422113.2 - 9 3457 c.3131G>T c.(3130-3132)aGg>aTg p.R1044M TMEM132D_ENST00000389441.4_Missense_Mutation_p.R582M NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1044 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AAATTTTACCCTTTTCCTTTT 0.498000 12 105 6.40141e-05 7.51681e-05 1 1 0 CLN8 2055 broad.mit.edu 37 8 1719242 1719242 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:1719242G>C ENST00000331222.4 + 2 269 c.22G>C c.(22-24)Ggc>Cgc p.G8R NM_018941.3 NP_061764.2 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 8 cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) GAGCGATGGGGGCACATCAGA 0.542000 7 99 0 0 1 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021507 46021507 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr21:46021507C>G ENST00000380102.2 + 1 1011 c.986C>G c.(985-987)cCc>cGc p.P329R TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 329 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 TGCTGCGTGCCCGTCCCCTCC 0.711000 6 87 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72958838 72958838 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:72958838C>A ENST00000262209.4 - 17 2178 c.1971G>T c.(1969-1971)gaG>gaT p.E657D RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 657 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TGAAATTATACTCGATCTGTA 0.299000 10 53 1.76689e-08 2.38665e-08 1 1 0 INSR 3643 broad.mit.edu 37 19 7122757 7122757 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:7122757G>A ENST00000341500.5 - 18 3400 c.3361C>T c.(3361-3363)Ctt>Ttt p.L1121F INSR_ENST00000302850.5_Missense_Mutation_p.L1133F NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1133 Protein kinase. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATCTCTTGAAGGGTAGGGGGA 0.572000 9 58 0 0 1 0 0 LAPTM5 7805 broad.mit.edu 37 1 31230536 31230536 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:31230536G>A ENST00000294507.3 - 1 131 c.57C>T c.(55-57)atC>atT p.I19I LAPTM5_ENST00000476492.1_5'UTR NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 19 transport integral to plasma membrane|lysosomal membrane large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) CGGTGGTTGCGATGCGGACAT 0.632000 5 26 0 0 1 0 0 OR6B2 389090 broad.mit.edu 37 2 240969720 240969720 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:240969720G>T ENST00000402971.2 - 1 186 c.127C>A c.(127-129)Ctg>Atg p.L43M NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) ATGATGGCCAGGTTCTCCACC 0.582000 14 194 2.32078e-09 3.19753e-09 1 1 0 GPR37 2861 broad.mit.edu 37 7 124404651 124404651 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:124404651C>A ENST00000303921.2 - 1 1030 c.380G>T c.(379-381)gGt>gTt p.G127V NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 127 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AGGCTCCTGACCCCGAGCACC 0.677000 24 125 4.87955e-14 7.41501e-14 1 1 0 XIST 7503 broad.mit.edu 37 X 73066879 73066879 + RNA SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:73066879G>A ENST00000429829.1 - 0 5709 NR_001564.2 AACTGAAAATGTGTATATAAC 0.403000 10 31 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60758261 60758261 + Silent SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:60758261C>G ENST00000303375.5 + 17 2976 c.2574C>G c.(2572-2574)gcC>gcG p.A858A NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 858 C-type lectin 5. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GGTTCCAGGCCGAGCTGACCT 0.642000 3 28 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21251000 21251000 + Splice_Site SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:21251000G>C ENST00000298925.5 + 15 1786 c.1633_splice c.e15+1 p.A545_splice NELL1_ENST00000532434.1_Splice_Site_p.A517_splice|NELL1_ENST00000357134.5_Splice_Site_p.A517_splice|NELL1_ENST00000325319.5_Splice_Site_p.A460_splice Q92832 NELL1_HUMAN NEL-like 1 (chicken) 517 EGF-like 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CATCTGCAGAGGTAGGCTTGC 0.567000 6 43 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70981407 70981407 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:70981407G>T ENST00000276594.2 - 2 890 c.689C>A c.(688-690)cCa>cAa p.P230Q NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AGAGCTGTCTGGGGGGACCAG 0.612000 13 88 1.5842e-08 2.15396e-08 1 1 0 TCEA1 6917 broad.mit.edu 37 8 54891616 54891616 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:54891616T>A ENST00000521604.2 - 8 1197 c.794A>T c.(793-795)aAa>aTa p.K265I TCEA1_ENST00000396401.3_Missense_Mutation_p.K244I|TCEA1_ENST00000522635.1_Missense_Mutation_p.K81I|TCEA1_ENST00000521086.2_5'UTR NM_006756.2 NP_006747.1 P23193 TCEA1_HUMAN transcription elongation factor A (SII), 1 265 positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction nucleoplasm DNA binding|translation elongation factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699) CTTTTTACATTTGCCACATGT 0.373000 T PLAG1 salivary adenoma 4 61 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50677845 50677845 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:50677845C>G ENST00000446044.1 + 5 864 c.268C>G c.(268-270)Cag>Gag p.Q90E MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.Q90E NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 90 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) CCATCACTGGCAGGCTTCTGG 0.552000 13 216 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169763195 169763195 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:169763195G>C ENST00000375363.3 + 4 554 c.462G>C c.(460-462)tgG>tgC p.W154C G6PC2_ENST00000429379.2_Intron|G6PC2_ENST00000421979.1_Intron|G6PC2_ENST00000461586.1_Intron|SPC25_ENST00000472216.2_Intron NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 154 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 CATTTCTTTGGAGTGTTTTTT 0.373000 17 142 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28541447 28541447 + Nonsense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:28541447G>T ENST00000452236.2 - 4 2836 c.2219C>A c.(2218-2220)tCa>tAa p.S740* NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 740 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ctcaatatatgaaggatcata 0.338000 12 42 4.36969e-10 6.19956e-10 1 1 0 EPG5 57724 broad.mit.edu 37 18 43462398 43462398 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:43462398T>A ENST00000282041.5 - 31 5393 c.5359A>T c.(5359-5361)Agg>Tgg p.R1787W EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1787 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TCCAGAAGCCTGGTACGATCA 0.403000 10 94 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 77067081 77067081 + Silent SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:77067081A>T ENST00000426216.2 + 15 1637 c.1620A>T c.(1618-1620)cgA>cgT p.R540R ATP9B_ENST00000307671.7_Silent_p.R540R NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 540 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) TCAGTAGTCGAATCCATGAAG 0.502000 11 73 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34917756 34917756 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:34917756G>A ENST00000359791.1 + 9 1222 c.1094G>A c.(1093-1095)gGt>gAt p.G365D NPSR1_ENST00000531252.1_Missense_Mutation_p.G354D NM_207173.1 NP_997056.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 0 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AACTGGAAGGGTACTTGGCCA 0.557000 3 13 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305019 61305019 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:61305019G>T ENST00000341074.5 - 8 1222 c.1107C>A c.(1105-1107)ttC>ttA p.F369L SERPINB4_ENST00000356424.6_Missense_Mutation_p.F317L NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 TGAAGAATAGGAAAGGGTGAT 0.423000 37 171 1.96642e-18 3.08653e-18 1 1 0 LAMA5 3911 broad.mit.edu 37 20 60900472 60900472 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:60900472C>A ENST00000252999.3 - 41 5495 c.5429G>T c.(5428-5430)aGg>aTg p.R1810M NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1810 Laminin IV type A. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGTGCCACCCTGCGCAGGAA 0.672000 8 31 0.000157383 0.000181035 1 1 0 FSD1 79187 broad.mit.edu 37 19 4318918 4318918 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:4318918C>A ENST00000221856.6 + 10 1156 c.1009C>A c.(1009-1011)Cgc>Agc p.R337S FSD1_ENST00000597590.1_Missense_Mutation_p.R337S|FSD1_ENST00000598010.1_3'UTR NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 337 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GGGACGGGACCGCTTCACCGC 0.602000 9 39 0.000442599 0.00049893 1 1 0 ACPL2 92370 broad.mit.edu 37 3 141011680 141011680 + Missense_Mutation SNP G G T rs138707752 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:141011680G>T ENST00000508812.1 + 5 2956 c.1049G>T c.(1048-1050)cGg>cTg p.R350L ACPL2_ENST00000286353.4_Missense_Mutation_p.R359L|ACPL2_ENST00000504264.1_Missense_Mutation_p.R342L|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.R321L|ACPL2_ENST00000393007.1_Missense_Mutation_p.R343L|ACPL2_ENST00000393010.2_Missense_Mutation_p.R359L Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 359 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 ACCATCGGCCGGATGCAGCGT 0.542000 22 94 1.28384e-07 1.67928e-07 1 1 0 CPXCR1 53336 broad.mit.edu 37 X 88009007 88009007 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:88009007A>G ENST00000276127.4 + 3 851 c.592A>G c.(592-594)Agg>Ggg p.R198G CPXCR1_ENST00000373111.1_Missense_Mutation_p.R198G NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 198 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 AACATTTAGAAGGCCTTCGAG 0.433000 4 23 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237947 29237947 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr14:29237947A>G ENST00000382535.3 + 2 1831 c.1462A>G c.(1462-1464)Ata>Gta p.I488V FOXG1_ENST00000313071.4_Missense_Mutation_p.I488V P55316 FOXG1_HUMAN forkhead box G1 488 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CAACCCTTTAATACATTAACA 0.373000 12 42 0 0 1 0 0 FAM81B 153643 broad.mit.edu 37 5 94784045 94784045 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:94784045C>G ENST00000283357.5 + 9 1148 c.1102C>G c.(1102-1104)Cag>Gag p.Q368E NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 368 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) CATTAACACACAGAAACAGGA 0.328000 12 41 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232577115 232577115 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:232577115G>C ENST00000366630.1 - 13 3922 c.3564C>G c.(3562-3564)tcC>tcG p.S1188S SIPA1L2_ENST00000262861.4_Silent_p.S1188S|SIPA1L2_ENST00000308942.4_Silent_p.S262S Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1188 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.S1188S(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCAGGACTTTGGAAGGTGGGC 0.413000 48 295 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16918969 16918969 + Silent SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:16918969C>G ENST00000377833.4 - 57 9098 c.9033G>C c.(9031-9033)ggG>ggC p.G3011G NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3011 CUB 22. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCAGAACCGGCCCAGCGATGG 0.488000 13 89 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 86068165 86068165 + Silent SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:86068165C>G ENST00000373131.1 + 8 1546 c.1383C>G c.(1381-1383)cgC>cgG p.R461R DACH2_ENST00000510272.1_Silent_p.R255R|DACH2_ENST00000508860.1_Silent_p.R307R|DACH2_ENST00000373125.4_Silent_p.R474R|DACH2_ENST00000477378.2_3'UTR NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 474 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 ATAATGCTCGCATCCAGGAGA 0.378000 6 6 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216348676 216348676 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:216348676C>T ENST00000366943.2 - 21 4931 c.4545G>A c.(4543-4545)acG>acA p.T1515T USH2A_ENST00000366942.3_Silent_p.T1515T|USH2A_ENST00000307340.3_Silent_p.T1515T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1515 T -> M (in USH2A). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTTTCATCATCGTGGTCATCA 0.438000 HNSCC(13;0.011) 17 39 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33667445 33667445 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:33667445G>A ENST00000321505.4 + 16 4912 c.4732G>A c.(4732-4734)Gcc>Acc p.A1578T KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1584T KIAA1549-like GCACCAAGAGGCCTACGGCTC 0.692000 6 27 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109734402 109734402 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:109734402A>G ENST00000369939.3 + 13 1783 c.1600A>G c.(1600-1602)Aaa>Gaa p.K534E KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.K447E NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 534 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TTCCAAAGGCAAACAGTCCTA 0.532000 13 179 0 0 1 0 0 GPR157 80045 broad.mit.edu 37 1 9164643 9164643 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:9164643G>A ENST00000377411.4 - 4 985 c.843C>T c.(841-843)ctC>ctT p.L281L GPR157_ENST00000414642.2_Silent_p.L216L NM_024980.4 NP_079256.4 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 281 integral to membrane|plasma membrane G-protein coupled receptor activity lung(4)|prostate(1) 5 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|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;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) CGCGGGTGCAGAGGACGAACA 0.607000 4 30 0 0 1 0 0 CRABP2 1382 broad.mit.edu 37 1 156670413 156670413 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:156670413C>G ENST00000368222.3 - 3 441 c.287G>C c.(286-288)tGt>tCt p.C96S CRABP2_ENST00000368221.1_Missense_Mutation_p.C96S NM_001199723.1|NM_001878.3 NP_001186652.1|NP_001869.1 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 96 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity endometrium(2)|lung(3)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) CTTCTGCTCACAGACCATTTT 0.562000 9 72 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125876325 125876325 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:125876325C>A ENST00000393434.2 - 4 738 c.389G>T c.(388-390)gGg>gTg p.G130V ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G130V|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G130V|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G140V NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 130 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GGAAAACCCCCCTTTCTTATC 0.592000 6 121 0.00116845 0.00128674 1 1 0 OR4A47 403253 broad.mit.edu 37 11 48510588 48510588 + Missense_Mutation SNP G G A rs150210663 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:48510588G>A ENST00000446524.1 + 1 320 c.244G>A c.(244-246)Ggc>Agc p.G82S NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 82 G -> D (in dbSNP:rs12805819). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G82S(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 ATTGATTTCAGGCTTGTTCTT 0.428000 20 106 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716741 142716741 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:142716741C>T ENST00000381779.4 - 2 2409 c.2184G>A c.(2182-2184)gaG>gaA p.E728E SLITRK4_ENST00000356928.1_Silent_p.E728E|SLITRK4_ENST00000338017.4_Silent_p.E728E NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 728 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) ATAAATCTTTCTCCTTGTCGG 0.413000 9 79 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184717 19184717 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:19184717C>A ENST00000275461.3 - 1 327 c.269G>T c.(268-270)gGc>gTc p.G90V AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 90 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CTTGGGGCGGCCTAATAGGGA 0.597000 5 32 0.000602214 0.000671534 1 1 0 SCAF8 22828 broad.mit.edu 37 6 155154150 155154150 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:155154150A>G ENST00000367178.3 + 20 4013 c.3437A>G c.(3436-3438)cAc>cGc p.H1146R SCAF8_ENST00000367186.4_Missense_Mutation_p.H1212R|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000417268.1_Missense_Mutation_p.H1146R NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 1146 Arg-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CAAGAAGTTCACAGAGATTTT 0.438000 16 97 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52645240 52645240 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:52645240C>A ENST00000395961.3 - 4 580 c.414G>T c.(412-414)tgG>tgT p.W138C BCAS1_ENST00000371435.2_Missense_Mutation_p.W138C|BCAS1_ENST00000371440.3_Missense_Mutation_p.W138C|BCAS1_ENST00000411563.1_Missense_Mutation_p.W41C NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 138 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CCGGAAGTGTCCAGCTCTCAC 0.597000 11 83 1.58986e-06 2.00349e-06 1 1 0 MCM7 4176 broad.mit.edu 37 7 99697245 99697245 + Silent SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:99697245T>A ENST00000303887.5 - 3 888 c.243A>T c.(241-243)gtA>gtT p.V81V MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.V81V NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GCAGCTCTTGTACGGCATCAG 0.532000 24 141 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36221470 36221470 + Silent SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:36221470G>C ENST00000222270.7 + 25 5229 c.5229G>C c.(5227-5229)ctG>ctC p.L1743L KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.L1743L NM_014727.1 NP_055542.1 TGGGTACTCTGTCTGATCTCT 0.622000 52 355 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42743868 42743868 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:42743868T>C ENST00000263805.4 - 2 859 c.533A>G c.(532-534)cAt>cGt p.H178R ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 AGAATTACTATGGTTGTGAAA 0.473000 8 99 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14938443 14938443 + Missense_Mutation SNP G G T rs143093089 by1000genomes TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:14938443G>T ENST00000322301.3 - 2 698 c.611C>A c.(610-612)gCg>gAg p.A204E OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.A204E Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A204V(1) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 ACCCAGCAGCGCAACTGTAAA 0.428000 16 91 3.41278e-10 4.88666e-10 1 1 0 KLHL14 57565 broad.mit.edu 37 18 30267170 30267170 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:30267170G>T ENST00000359358.4 - 5 1624 c.1186C>A c.(1186-1188)Cga>Aga p.R396R NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 396 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GGATCATATCGGCTGACAAAA 0.368000 21 137 7.87624e-14 1.19395e-13 1 1 0 STX19 415117 broad.mit.edu 37 3 93733458 93733458 + Missense_Mutation SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:93733458A>G ENST00000315099.2 - 2 912 c.656T>C c.(655-657)cTt>cCt p.L219P ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron NM_001001850.2 NP_001001850.1 Q8N4C7 STX19_HUMAN syntaxin 19 219 t-SNARE coiled-coil homology. intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity kidney(2)|large_intestine(2)|lung(4)|prostate(1) 9 CAAATTAACAAGTTCCTTGTG 0.328000 4 66 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27745432 27745432 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:27745432C>G ENST00000264717.2 + 18 1741 c.1678C>G c.(1678-1680)Cat>Gat p.H560D GCKR_ENST00000424318.2_Missense_Mutation_p.H370D NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 560 H -> R (in Ref. 1; CAA88367). carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CATCTCCTGCCATGTCCAGGT 0.517000 26 85 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53432595 53432595 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:53432595C>A ENST00000549216.1 - 2 126 c.56G>T c.(55-57)gGg>gTg p.G19V ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF321P_ENST00000391777.3_Missense_Mutation_p.G88V|ZNF816_ENST00000434371.2_Missense_Mutation_p.G88V NM_001202473.1 NP_001189402.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TTGCAATGTCCCTGTGTGGAT 0.378000 40 237 9.73076e-26 1.56297e-25 1 1 0 SETBP1 26040 broad.mit.edu 37 18 42530307 42530307 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:42530307G>A ENST00000282030.5 + 4 1298 c.1002G>A c.(1000-1002)aaG>aaA p.K334K NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 334 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGGGCAGCAAGAAAAAGTCCA 0.507000 Schinzel-Giedion syndrome 22 85 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576343 33576343 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:33576343G>T ENST00000504830.1 - 19 4123 c.3788C>A c.(3787-3789)aCg>aAg p.T1263K ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178K NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1263 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.T1263M(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ACGGTTTGCCGTCTTTCCTGA 0.502000 HNSCC(64;0.19) 47 233 5.7616e-29 9.30258e-29 1 1 0 KIF1A 547 broad.mit.edu 37 2 241683419 241683419 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:241683419A>T ENST00000498729.2 - 33 3770 c.3524T>A c.(3523-3525)tTc>tAc p.F1175Y KIF1A_ENST00000320389.7_Missense_Mutation_p.F1074Y NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1074 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AAAGACCTCGAAAACAATGGG 0.632000 39 122 0 0 1 0 0 LPCAT1 79888 broad.mit.edu 37 5 1494859 1494859 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:1494859G>C ENST00000283415.3 - 3 581 c.449C>G c.(448-450)tCc>tGc p.S150C NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 150 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) CATCACGATGGAGGACATCGT 0.637000 8 67 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27999015 27999015 + Silent SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:27999015T>C ENST00000269033.3 - 8 817 c.666A>G c.(664-666)gaA>gaG p.E222E RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.E249E NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 222 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTGCATTCCATTCATTGACTG 0.468000 29 187 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247654476 247654476 + RNA SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:247654476G>C ENST00000522351.1 + 0 107 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ATCCTGGTGGGCTCTTCTGAT 0.478000 8 56 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78216960 78216960 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:78216960C>A ENST00000171757.2 + 4 1223 c.943C>A c.(943-945)Caa>Aaa p.Q315K P2RY10_ENST00000544091.1_Missense_Mutation_p.Q315K NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 315 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 GTTTCGTGACCAACTATCCCG 0.443000 24 60 3.08376e-08 4.13838e-08 1 1 0 CDH10 1008 broad.mit.edu 37 5 24509733 24509733 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:24509733C>A ENST00000264463.4 - 7 1705 c.1198G>T c.(1198-1200)Ggc>Tgc p.G400C NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 400 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ATGATTGTGCCCACTTCAATA 0.418000 HNSCC(23;0.051) 9 71 1 1 1 1 0 SPEF2 79925 broad.mit.edu 37 5 35740237 35740237 + Missense_Mutation SNP T T G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:35740237T>G ENST00000440995.2 + 23 3183 c.3183T>G c.(3181-3183)agT>agG p.S1061R CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.S1066R Q9C093 SPEF2_HUMAN sperm flagellar 2 1066 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACAGAACAAGTTTCCAGGAGT 0.378000 9 120 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149441320 149441320 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:149441320C>G ENST00000286301.3 - 12 2010 c.1719G>C c.(1717-1719)gaG>gaC p.E573D CSF1R_ENST00000515239.1_5'UTR NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 573 cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) ACTCCCACTTCTCGTTGTAAG 0.557000 21 106 0 0 1 0 0 PRSS37 136242 broad.mit.edu 37 7 141536910 141536910 + Splice_Site SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:141536910A>T ENST00000350549.3 - 4 939 c.e4+1 PRSS37_ENST00000438520.1_Splice_Site NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 proteolysis extracellular region serine-type endopeptidase activity p.?(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 AGATAAGATTACCCCAAAAAT 0.328000 7 72 0 0 1 0 0 FOXF1 2294 broad.mit.edu 37 16 86544300 86544300 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:86544300G>T ENST00000262426.4 + 1 168 c.125G>T c.(124-126)gGc>gTc p.G42V NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 42 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 ACCAACGCCGGCATCCGGCGC 0.716000 4 29 0.014758 0.0153781 1 1 0 KIF26A 26153 broad.mit.edu 37 14 104642724 104642724 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr14:104642724C>A ENST00000315264.7 + 11 3560 c.3182C>A c.(3181-3183)gCa>gAa p.A1061E KIF26A_ENST00000423312.2_Missense_Mutation_p.A1200E Q9ULI4 KI26A_HUMAN kinesin family member 26A 1200 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) TCGCGGTGGGCATCCGCAGCC 0.726000 3 9 0.004672 0.00498561 1 1 0 DSC3 1825 broad.mit.edu 37 18 28612174 28612174 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:28612174G>T ENST00000434452.1 - 2 292 c.138C>A c.(136-138)gaC>gaA p.D46E DSC3_ENST00000360428.4_Missense_Mutation_p.D46E NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 46 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CAATTATTTTGTCTGCCTCTA 0.343000 5 33 0.00116845 0.00128674 1 1 0 DDX6 1656 broad.mit.edu 37 11 118636046 118636046 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:118636046T>C ENST00000264018.4 - 6 822 c.517A>G c.(517-519)Act>Gct p.T173A DDX6_ENST00000534980.1_Missense_Mutation_p.T173A|DDX6_ENST00000526070.2_Missense_Mutation_p.T173A NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 173 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) AGTTCTCTAGTGGGAACAATC 0.413000 T IGH@ B-NHL 46 247 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 86067970 86067970 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:86067970G>T ENST00000373131.1 + 7 1476 c.1313G>T c.(1312-1314)aGt>aTt p.S438I DACH2_ENST00000510272.1_Missense_Mutation_p.S232I|DACH2_ENST00000508860.1_Missense_Mutation_p.S284I|DACH2_ENST00000373125.4_Missense_Mutation_p.S451I|DACH2_ENST00000477378.2_3'UTR NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 451 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 TTTGCTGATAGTCTGTCCTCC 0.403000 3 12 6.4e-05 7.51681e-05 1 1 0 SOS1 6654 broad.mit.edu 37 2 39213261 39213261 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:39213261G>A ENST00000426016.1 - 24 3792 c.3706C>T c.(3706-3708)Ccc>Tcc p.P1236S SOS1_ENST00000402219.2_Missense_Mutation_p.P1236S|SOS1_ENST00000395038.2_Missense_Mutation_p.P1221S Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1236 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCCAAAGGGGGAGGTTGGAGA 0.522000 Noonan syndrome 15 131 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46605711 46605711 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:46605711G>T ENST00000275016.2 - 4 696 c.493C>A c.(493-495)Ctc>Atc p.L165I NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 165 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 GGATAAAGGAGATGTCTACAA 0.343000 7 42 8.12818e-05 9.4727e-05 1 1 0 ZNF804B 219578 broad.mit.edu 37 7 88965825 88965825 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:88965825C>A ENST00000333190.4 + 4 4138 c.3529C>A c.(3529-3531)Cat>Aat p.H1177N NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1177 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CCTATCAAAGCATCTTCGAGT 0.468000 HNSCC(36;0.09) 19 86 0.00074312 0.000825689 1 1 0 SNRPC 6631 broad.mit.edu 37 6 34741303 34741303 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:34741303A>T ENST00000374017.3 + 5 786 c.499A>T c.(499-501)Atg>Ttg p.M167L SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000244520.5_Missense_Mutation_p.M146L|SNRPC_ENST00000374018.1_Missense_Mutation_p.M105L P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 146 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 6 TGCCCGTCCCATGATGGTGCC 0.542000 7 81 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3281300 3281300 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:3281300C>G ENST00000541430.2 + 6 743 c.707C>G c.(706-708)tCc>tGc p.S236C CELF5_ENST00000292672.2_Missense_Mutation_p.S236C NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 236 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 CTGACGCCGTCCCTCACATTG 0.652000 15 94 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167713 140167713 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:140167713C>A ENST00000504120.2 + 1 1838 c.1838C>A c.(1837-1839)cCg>cAg p.P613Q PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.P613Q NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACTGCAGCCGGCAGCAGGC 0.682000 17 95 6.94344e-10 9.78394e-10 1 1 0 CD1E 913 broad.mit.edu 37 1 158324281 158324281 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:158324281G>T ENST00000368160.3 + 2 173 c.173G>T c.(172-174)tGg>tTg p.W58L CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.W58L|CD1E_ENST00000368156.1_Missense_Mutation_p.W58L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.W58L|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.W58L|CD1E_ENST00000368163.3_Missense_Mutation_p.W58L|CD1E_ENST00000368167.3_Missense_Mutation_p.W58L|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.W56L NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 58 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GGCTCAGGATGGCTGGGTGAC 0.562000 5 103 0.014758 0.0153781 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141819675 141819675 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:141819675A>T ENST00000389484.3 - 8 2152 c.1181T>A c.(1180-1182)gTg>gAg p.V394E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 394 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACTACTCCCACATAGTCCAA 0.403000 TSP Lung(27;0.18) 9 132 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962752 88962752 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:88962752C>A ENST00000333190.4 + 4 1065 c.456C>A c.(454-456)ccC>ccA p.P152P NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 152 intracellular zinc ion binding p.P152P(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GAATTTTCCCCATTAAGAATG 0.408000 HNSCC(36;0.09) 8 47 0.0381472 0.0392878 1 1 0 TRAV21 28662 broad.mit.edu 37 14 22521193 22521193 + RNA SNP A A G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr14:22521193A>G ENST00000390449.3 + 0 221 TATTCAGTCAAGTCAGAGAGA 0.463000 7 38 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128351709 128351709 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:128351709C>A ENST00000262462.4 + 5 2111 c.1101C>A c.(1099-1101)agC>agA p.S367R SLC27A6_ENST00000395266.1_Missense_Mutation_p.S367R|SLC27A6_ENST00000506176.1_Missense_Mutation_p.S367R Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 367 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CCGAATCAAGCATATCTTTCA 0.353000 20 131 3.08376e-08 4.13838e-08 1 1 0 ZNF549 256051 broad.mit.edu 37 19 58048905 58048905 + Nonsense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:58048905C>G ENST00000376233.3 + 4 714 c.533C>G c.(532-534)tCa>tGa p.S178* ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.S165*|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron NM_001199295.1 NP_001186224.1 Q6P9A3 ZN549_HUMAN zinc finger protein 549 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATTCCTCTGTCAGACAATCTT 0.478000 7 67 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71790027 71790027 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:71790027C>A ENST00000299980.4 - 12 1565 c.1124G>T c.(1123-1125)gGg>gTg p.G375V AP1G1_ENST00000423132.2_Missense_Mutation_p.G378V|AP1G1_ENST00000393512.3_Missense_Mutation_p.G378V|AP1G1_ENST00000433195.2_Missense_Mutation_p.G398V|AP1G1_ENST00000569748.1_Missense_Mutation_p.G375V NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 375 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GATATTATTCCCATTTACCAG 0.378000 12 75 2.68362e-12 3.94276e-12 1 1 0 PLEKHH1 57475 broad.mit.edu 37 14 68040045 68040045 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr14:68040045C>T ENST00000329153.5 + 12 1913 c.1781C>T c.(1780-1782)aCg>aTg p.T594M NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 594 PH 1. cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CAGGTGAAGACGTGGAAGAGG 0.557000 12 49 0 0 1 0 0 PKP1 5317 broad.mit.edu 37 1 201294890 201294890 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:201294890C>T ENST00000263946.3 + 13 2344 c.2093C>T c.(2092-2094)cCc>cTc p.P698L PKP1_ENST00000367324.3_Missense_Mutation_p.P677L|PKP1_ENST00000352845.3_Missense_Mutation_p.P698L NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 698 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 AGTGCCTCACCCAAGGCCGCA 0.597000 14 44 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164758731 164758731 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:164758731T>A ENST00000264382.3 - 18 2218 c.2156A>T c.(2155-2157)cAt>cTt p.H719L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 719 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TACTCACTCATGAAGAACTGG 0.323000 HNSCC(35;0.089) 9 146 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3324334 3324334 + Silent SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:3324334T>A ENST00000252032.9 - 9 901 c.834A>T c.(832-834)atA>atT p.I278I NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 278 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TGTTTTCAGTTATATGGCTAG 0.393000 72 434 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165548018 165548018 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:165548018C>A ENST00000264381.3 - 2 970 c.804G>T c.(802-804)agG>agT p.R268S BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 268 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ACGTTCTGTTCCTAGCTTCAT 0.398000 13 117 4.36969e-10 6.19956e-10 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10466108 10466108 + Missense_Mutation SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:10466108C>T ENST00000382483.3 - 4 5723 c.5500G>A c.(5500-5502)Ggc>Agc p.G1834S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1834 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCCTCTATGCCTTCGGCCCCA 0.637000 45 262 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158669643 158669643 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:158669643T>A ENST00000359610.2 - 1 843 c.800A>T c.(799-801)tAc>tTc p.Y267F NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) GAACAAAGAGTAGGTGGCAGA 0.458000 10 88 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77376684 77376684 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:77376684G>T ENST00000451710.3 - 27 4950 c.4713C>A c.(4711-4713)gtC>gtA p.V1571V TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Silent_p.V1566V|TRPM6_ENST00000360774.1_Silent_p.V1571V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Silent_p.V1571V|TRPM6_ENST00000361255.3_Silent_p.V1566V Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1571 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTTTCGCTTTGACCCATGCTC 0.413000 6 65 3.59834e-05 4.26571e-05 1 1 0 GOT2 2806 broad.mit.edu 37 16 58757763 58757763 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:58757763G>A ENST00000245206.5 - 2 261 c.133C>T c.(133-135)Ctg>Ttg p.L45L GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Silent_p.L45L NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 45 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GTGACTCCCAGAATGGGATCT 0.468000 9 142 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96761553 96761553 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr4:96761553C>A ENST00000295266.4 + 1 315 c.252C>A c.(250-252)ttC>ttA p.F84L NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 84 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.F84F(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) AACAGAAATTCATTCGCGGTT 0.517000 11 110 2.68362e-12 3.94276e-12 1 1 0 SLK 9748 broad.mit.edu 37 10 105759647 105759647 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr10:105759647C>G ENST00000369755.3 + 7 1350 c.805C>G c.(805-807)Cta>Gta p.L269V SLK_ENST00000335753.4_Missense_Mutation_p.L269V NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 269 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TAAGGACTTTCTAAAGAAATG 0.284000 6 31 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158627383 158627383 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:158627383C>A ENST00000368148.3 - 19 2869 c.2689G>T c.(2689-2691)Gcc>Tcc p.A897S SPTA1_ENST00000368147.3_Missense_Mutation_p.A897S NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 897 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGGACATTGGCTTCAAGATCA 0.468000 43 153 5.44703e-19 8.59328e-19 1 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307161 39307161 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:39307161C>T ENST00000541347.1 - 2 1079 c.840G>A c.(838-840)acG>acA p.T280T CX3CR1_ENST00000358309.3_Silent_p.T312T|CX3CR1_ENST00000399220.2_Silent_p.T280T|CX3CR1_ENST00000542107.1_Silent_p.T280T NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 280 T -> M (common polymorphism in Caucasian population; dbSNP:rs3732378). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TAAATGCAACCGTCTCAGTCA 0.473000 28 135 0 0 1 0 0 OR10W1 81341 broad.mit.edu 37 11 58035306 58035306 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:58035306G>A ENST00000395079.2 - 1 426 c.25C>T c.(25-27)Ccc>Tcc p.P9S NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P9S(1) kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) GGGCAGGAGGGATAGGCCAGG 0.453000 9 49 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325553 150325553 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:150325553G>C ENST00000328902.5 - 3 349 c.133C>G c.(133-135)Ctc>Gtc p.L45V GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 45 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCCCCATGAGAATGAGCCTC 0.527000 31 368 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69726114 69726114 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:69726114C>G ENST00000349945.1 + 14 3656 c.2104C>G c.(2104-2106)Ctg>Gtg p.L702V NFAT5_ENST00000393742.2_Missense_Mutation_p.L702V|NFAT5_ENST00000354436.2_Missense_Mutation_p.L778V|NFAT5_ENST00000566899.1_Missense_Mutation_p.L702V|NFAT5_ENST00000567239.1_Missense_Mutation_p.L795V|NFAT5_ENST00000432919.1_Missense_Mutation_p.L796V NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 778 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TATTCAGCAGCTGCAAGCAGG 0.438000 21 107 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C A rs28934575 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:7577548C>A ENST00000420246.2 - 7 865 c.733G>T c.(733-735)Ggc>Tgc p.G245C TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000269305.4_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 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) 14 49 0.0167234 0.0173677 1 1 0 HSPG2 3339 broad.mit.edu 37 1 22176868 22176868 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:22176868C>A ENST00000374695.3 - 56 7361 c.7282G>T c.(7282-7284)Ggc>Tgc p.G2428C HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2428 Ig-like C2-type 9. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGCACTGAGCCCGCAGGCTCA 0.677000 4 15 1.23904e-05 1.48877e-05 1 1 0 ZNF224 7767 broad.mit.edu 37 19 44610912 44610912 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:44610912G>T ENST00000336976.6 + 6 853 c.599G>T c.(598-600)gGa>gTa p.G200V AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 200 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GTCCACATGGGAGAGAAATGC 0.428000 31 209 1.16021e-09 1.62011e-09 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139809090 139809090 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:139809090G>T ENST00000303045.6 - 12 2014 c.1568C>A c.(1567-1569)cCt>cAt p.P523H COL22A1_ENST00000435777.1_Missense_Mutation_p.P523H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 523 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGGCCAAAAGGTCCTATGCC 0.463000 HNSCC(7;0.00092) 12 199 4.3838e-07 5.61561e-07 1 1 0 LCE3D 84648 broad.mit.edu 37 1 152552371 152552371 + Silent SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:152552371G>T ENST00000368787.3 - 2 98 c.42C>A c.(40-42)ccC>ccA p.P14P NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 14 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) AGGGACACTTGGGTGGGGGTT 0.567000 33 120 1.06647e-15 1.64073e-15 1 1 0 IFNA16 3449 broad.mit.edu 37 9 21217147 21217147 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:21217147A>T ENST00000380216.1 - 1 163 c.158T>A c.(157-159)cTg>cAg p.L53Q NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 53 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TCTGTCCTTCAGGCAGGAGAA 0.512000 29 162 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29649572 29649572 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:29649572T>A ENST00000318184.5 - 2 99 c.100A>T c.(100-102)Agt>Tgt p.S34C NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 34 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GGTTCCTTACTTTTCATGTTG 0.443000 15 94 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37305173 37305173 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:37305173C>A ENST00000231498.3 - 26 3246 c.3043G>T c.(3043-3045)Gaa>Taa p.E1015* NUP155_ENST00000381843.2_Nonsense_Mutation_p.E956*|NUP155_ENST00000513532.1_Nonsense_Mutation_p.E951*|NUP155_ENST00000502533.1_5'UTR NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1015 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTCCTGCTTCTTCATTACTC 0.423000 16 156 6.31663e-08 8.42217e-08 1 1 0 FCRL1 115350 broad.mit.edu 37 1 157773696 157773696 + Silent SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:157773696G>A ENST00000358292.3 - 3 309 c.258C>T c.(256-258)tgC>tgT p.C86C FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.C86C|FCRL1_ENST00000491942.1_Silent_p.C86C NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 86 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCTGTGCCTCGCACCAGTATG 0.572000 15 101 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36768520 36768520 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:36768520C>A ENST00000399881.3 + 22 2441 c.2404C>A c.(2404-2406)Ccc>Acc p.P802T NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 802 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TGTCTTGTCCCCCCCACCCCA 0.527000 14 51 0.00316338 0.00342884 1 1 0 SLC22A14 9389 broad.mit.edu 37 3 38348841 38348841 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:38348841A>T ENST00000273173.4 + 2 704 c.613A>T c.(613-615)Act>Tct p.T205S SLC22A14_ENST00000448498.1_Missense_Mutation_p.T205S NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 205 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CAGGCTCATAACTGACAAGTG 0.547000 7 100 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145640433 145640433 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:145640433G>T ENST00000265271.5 + 12 2031 c.1865G>T c.(1864-1866)aGc>aTc p.S622I RBM27_ENST00000506502.1_Missense_Mutation_p.S567I NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 622 RRM. mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAACACTTCAGCAAATTTGGA 0.378000 20 148 1.9806e-07 2.5852e-07 1 1 0 ZNF770 54989 broad.mit.edu 37 15 35274610 35274610 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:35274610C>A ENST00000356321.4 - 3 1370 c.1026G>T c.(1024-1026)aaG>aaT p.K342N NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) CACGCTTAAGCTTGGCCAAGA 0.333000 3 33 0.115264 0.118122 1 1 0 CDH18 1016 broad.mit.edu 37 5 19612606 19612606 + Nonsense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:19612606C>A ENST00000507958.1 - 8 1738 c.748G>T c.(748-750)Gga>Tga p.G250* CDH18_ENST00000502796.1_Nonsense_Mutation_p.G250*|CDH18_ENST00000506372.1_Nonsense_Mutation_p.G250*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.G250*|CDH18_ENST00000511273.1_Nonsense_Mutation_p.G250*|CDH18_ENST00000274170.4_Nonsense_Mutation_p.G250* Q13634 CAD18_HUMAN cadherin 18, type 2 250 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GTTGTAGATCCTGAAAGCCCT 0.418000 4 58 0.014758 0.0153781 1 1 0 CPQ 10404 broad.mit.edu 37 8 97797154 97797154 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:97797154G>T ENST00000220763.5 + 2 239 c.29G>T c.(28-30)gGt>gTt p.G10V NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 10 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity GCATTTTTCGGTGGTGTTCAC 0.338000 13 92 0.000151284 0.000174993 1 1 0 RNASET2 8635 broad.mit.edu 37 6 167352485 167352485 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:167352485C>A ENST00000366855.6 - 7 905 c.230G>T c.(229-231)tGg>tTg p.W77L RNASET2_ENST00000508775.1_Missense_Mutation_p.W115L|RP11-514O12.4_ENST00000507747.1_Missense_Mutation_p.G96W|RNASET2_ENST00000476238.2_Missense_Mutation_p.W115L|RNASET2_ENST00000496851.2_5'UTR O00584 RNT2_HUMAN ribonuclease T2 115 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) ATGCTTTTCCCACTCATGCTT 0.527000 16 85 0.00316338 0.00342884 1 1 0 KCNT2 343450 broad.mit.edu 37 1 196302978 196302978 + Splice_Site SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:196302978C>A ENST00000367433.5 - 17 2097 c.1997_splice c.e17+1 p.E666_splice KCNT2_ENST00000367431.4_Splice_Site_p.E616_splice|KCNT2_ENST00000451324.2_Splice_Site_p.E277_splice|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.E666_splice Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 666 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGAACATACTCTAAGTTTGAA 0.353000 7 32 8.12818e-05 9.4727e-05 1 1 0 HTR1F 3355 broad.mit.edu 37 3 88040607 88040607 + Missense_Mutation SNP A A T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr3:88040607A>T ENST00000319595.4 + 1 762 c.708A>T c.(706-708)aaA>aaT p.K236N NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 236 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) GTGGTGAGAAAAGCACTAAAT 0.393000 6 98 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5968930 5968930 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr9:5968930C>A ENST00000399933.3 - 3 1300 c.1301G>T c.(1300-1302)tGt>tTt p.C434F KIAA2026_ENST00000381461.2_Missense_Mutation_p.C434F NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 434 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CACAAAGTCACAAAGACCCTT 0.368000 3 20 0.004672 0.00498561 1 1 0 AP1G1 164 broad.mit.edu 37 16 71790028 71790028 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr16:71790028C>A ENST00000299980.4 - 12 1564 c.1123G>T c.(1123-1125)Ggg>Tgg p.G375W AP1G1_ENST00000423132.2_Missense_Mutation_p.G378W|AP1G1_ENST00000393512.3_Missense_Mutation_p.G378W|AP1G1_ENST00000433195.2_Missense_Mutation_p.G398W|AP1G1_ENST00000569748.1_Missense_Mutation_p.G375W NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 375 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) ATATTATTCCCATTTACCAGG 0.378000 12 75 2.68362e-12 3.94276e-12 1 1 0 ADCY8 114 broad.mit.edu 37 8 131964216 131964216 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:131964216C>A ENST00000286355.5 - 3 3231 c.1139G>T c.(1138-1140)cGg>cTg p.R380L ADCY8_ENST00000377928.3_Missense_Mutation_p.R380L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 380 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GACAACAAACCGGGGGAGCAC 0.547000 HNSCC(32;0.087) 7 79 2.0095e-06 2.51187e-06 1 1 0 CSTF2 1478 broad.mit.edu 37 X 100075409 100075409 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:100075409G>A ENST00000415585.2 + 1 26 c.4G>A c.(4-6)Gcg>Acg p.A2T CSTF2_ENST00000372972.2_Missense_Mutation_p.A2T|CSTF2_ENST00000486615.1_3'UTR P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 2 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 CAGAGCTATGGCGGGTTTGAC 0.597000 11 18 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88678389 88678389 + Missense_Mutation SNP G G C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:88678389G>C ENST00000394480.1 - 10 1468 c.1147C>G c.(1147-1149)Cca>Gca p.P383A NTRK3_ENST00000317501.3_Missense_Mutation_p.P383A|NTRK3_ENST00000558676.1_Missense_Mutation_p.P383A|NTRK3_ENST00000355254.2_Missense_Mutation_p.P383A|NTRK3_ENST00000557856.1_Missense_Mutation_p.P383A|NTRK3_ENST00000360948.2_Missense_Mutation_p.P383A|NTRK3_ENST00000540489.2_Missense_Mutation_p.P383A|NTRK3_ENST00000542733.2_Missense_Mutation_p.P285A|NTRK3_ENST00000357724.2_Missense_Mutation_p.P383A NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 383 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GTGCCCAGTGGGTTTTTGGCA 0.527000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 13 110 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382863 22382863 + Missense_Mutation SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:22382863C>A ENST00000328795.4 + 1 482 c.391C>A c.(391-393)Cac>Aac p.H131N RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCGGCCTCTGCACTGTTCAAC 0.522000 11 334 0.010729 0.0113322 1 1 0 NTNG1 22854 broad.mit.edu 37 1 107867376 107867376 + Missense_Mutation SNP T T C TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:107867376T>C ENST00000370067.1 + 3 1346 c.719T>C c.(718-720)aTg>aCg p.M240T NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370066.1_Missense_Mutation_p.M240T|NTNG1_ENST00000370068.1_Missense_Mutation_p.M240T|NTNG1_ENST00000370070.2_Missense_Mutation_p.M240T|NTNG1_ENST00000370071.2_Missense_Mutation_p.M240T|NTNG1_ENST00000370074.4_Missense_Mutation_p.M240T|NTNG1_ENST00000370072.3_Missense_Mutation_p.M240T|NTNG1_ENST00000370073.2_Missense_Mutation_p.M240T|NTNG1_ENST00000542803.1_Missense_Mutation_p.M240T|NTNG1_ENST00000370061.3_Missense_Mutation_p.M240T|NTNG1_ENST00000370065.1_Missense_Mutation_p.M240T Q9Y2I2 NTNG1_HUMAN netrin G1 240 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CTACGCAATATGGCTTCCCTC 0.443000 10 64 0 0 1 0 0 WNT10A 80326 broad.mit.edu 37 2 219754758 219754758 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:219754758C>T ENST00000258411.3 + 3 1062 c.429C>T c.(427-429)caC>caT p.H143H WNT10A_ENST00000483911.1_3'UTR NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 143 H -> Y (in EDA). anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCGTGGTGCACGCCGTGTCCA 0.622000 18 72 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188044 57188044 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:57188044G>T ENST00000331162.4 - 5 1348 c.1078C>A c.(1078-1080)Caa>Aaa p.Q360K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 360 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) CTAAAGGCTTGGCCACATTCT 0.443000 5 37 2.31682e-05 2.76237e-05 1 1 0 HSD3B2 3284 broad.mit.edu 37 1 119962112 119962112 + Missense_Mutation SNP T T A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:119962112T>A ENST00000543831.1 + 3 463 c.214T>A c.(214-216)Tgc>Agc p.C72S HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.C72S NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 72 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GAAAAGAGCCTGCCAGGACGT 0.488000 13 66 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56047342 56047342 + Silent SNP C C A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:56047342C>A ENST00000244728.5 - 2 472 c.75G>T c.(73-75)ggG>ggT p.G25G COL21A1_ENST00000535941.1_Silent_p.G25G|COL21A1_ENST00000370819.1_Silent_p.G25G NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 25 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ATCTTACTTCCCCATCTTCAG 0.343000 4 13 0.014758 0.0153781 1 1 0 AMY2A 279 broad.mit.edu 37 1 104160684 104160684 + Missense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:104160684G>A ENST00000414303.2 + 2 341 c.277G>A c.(277-279)Gaa>Aaa p.E93K NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 93 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) AAATGAAGATGAATTTAGAAA 0.343000 16 181 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156934092 156934092 + Missense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:156934092G>T ENST00000257527.4 - 10 1040 c.962C>A c.(961-963)tCt>tAt p.S321Y ADAM19_ENST00000394020.1_Missense_Mutation_p.S323Y|ADAM19_ENST00000430702.2_Missense_Mutation_p.S54Y|ADAM19_ENST00000517905.1_Missense_Mutation_p.S321Y NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 321 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGGTACACAGAGCACATGGC 0.602000 10 66 1.76689e-08 2.38665e-08 1 1 0 HELZ 9931 broad.mit.edu 37 17 65120094 65120094 + Nonsense_Mutation SNP G G A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:65120094G>A ENST00000358691.5 - 25 3590 c.3424C>T c.(3424-3426)Cag>Tag p.Q1142* HELZ_ENST00000580168.1_Nonsense_Mutation_p.Q1143* NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CCATCATTCTGGAAGTGATCA 0.323000 9 87 0 0 1 0 0 SMG9 56006 broad.mit.edu 37 19 44244333 44244333 + Missense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:44244333C>G ENST00000601170.1 - 7 1053 c.739G>C c.(739-741)Gaa>Caa p.E247Q SMG9_ENST00000270066.6_Missense_Mutation_p.E247Q Q9H0W8 SMG9_HUMAN SMG9 nonsense mediated mRNA decay factor 247 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2) 19 CCCCCTCGTTCCTTCATTTCA 0.567000 11 103 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507479 74507479 + Frame_Shift_Del DEL G G - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:74507479delG ENST00000354431.4 - 7 1327 c.1136delC c.(1135-1137)ctfs p.P379fs LRRIQ3_ENST00000395089.1_Frame_Shift_Del_p.P379fs NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 379 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AGGATATGCAGGAAAAAAATG 0.348 14 82 --- --- --- --- RASAL2 9462 broad.mit.edu 37 1 178427453 178427453 + Frame_Shift_Del DEL C C - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr1:178427453delC ENST00000448150.3 + 14 3811 c.2993delC c.(2992-2994)gcfs p.A998fs RASAL2_ENST00000367649.3_Frame_Shift_Del_p.A1009fs|RASAL2_ENST00000462775.1_Frame_Shift_Del_p.A868fs NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 868 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 ACTGGGCAGGCCCAGATCCGA 0.557 8 99 --- --- --- --- CAPG 822 broad.mit.edu 37 2 85628406 85628406 + Frame_Shift_Del DEL G G - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr2:85628406delG ENST00000263867.4 - 5 647 c.398delC c.(397-399)cafs p.P133fs CAPG_ENST00000409670.1_Frame_Shift_Del_p.P133fs|CAPG_ENST00000409724.1_Frame_Shift_Del_p.P133fs|CAPG_ENST00000409921.1_Frame_Shift_Del_p.P133fs|CAPG_ENST00000483659.1_5'UTR NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 133 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 GATGGCAGCTGGGGCTCCTGT 0.587 10 117 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 7 70 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24593369 24593370 + Splice_Site INS - - T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:24593369_24593370insT ENST00000264463.4 - 2 737_738 c.231_splice c.e2+1 p.T77_splice RP11-116O11.1_ENST00000510391.1_RNA NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 77 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.K77N(1)|p.?(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) ACAAGCTTACCTTGCCTACGTA 0.322 HNSCC(23;0.051) 16 149 --- --- --- --- CTD-2503O16.4 0 broad.mit.edu 37 5 74225818 74225818 + RNA DEL G G - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr5:74225818delG ENST00000505200.1 - 0 335 ACGTGATGTTGGAGAATTATA 0.448 20 101 --- --- --- --- C6orf223 221416 broad.mit.edu 37 6 43970504 43970506 + In_Frame_Del DEL GCG GCG - rs72369323 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:43970504_43970506delGCG ENST00000336600.5 + 4 390_392 c.370_372delGCG c.(370-372)del p.A132del C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 132 Ala-rich. A -> AA (in Ref. 2; AAH32706). central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) GGTAGAGCGCgcggcggcggcgg 0.773 3 4 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 7 97 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129901237 129901238 + Frame_Shift_Ins INS - - A TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr6:129901237_129901238insA ENST00000368149.2 - 14 1965_1966 c.1877_1878insT c.(1876-1878)ttafs p.L626fs ARHGAP18_ENST00000463225.1_5'UTR NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 626 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CAATTTCATACAAAAAAACTTC 0.342 11 56 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82583166 82583166 + Frame_Shift_Del DEL C C - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr7:82583166delC ENST00000423517.2 - 5 7440 c.7103delG c.(7102-7104)gtfs p.G2368fs PCLO_ENST00000333891.8_Frame_Shift_Del_p.G2368fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2299 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTTTCCTGACCAAAGGTCTC 0.428 11 56 --- --- --- --- ZFPM2 23414 broad.mit.edu 37 8 106813948 106813948 + Frame_Shift_Del DEL G G - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr8:106813948delG ENST00000407775.2 + 8 1888 c.1638delG c.(1636-1638)aafs p.K546fs ZFPM2_ENST00000517361.1_Frame_Shift_Del_p.K414fs|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Frame_Shift_Del_p.K414fs|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Frame_Shift_Del_p.K277fs|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 546 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGATGCCCAAGGGGGCTACTT 0.453 10 171 --- --- --- --- TECTA 7007 broad.mit.edu 37 11 121058632 121058632 + Frame_Shift_Del DEL G G - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr11:121058632delG ENST00000392793.1 + 21 6362 c.6091delG c.(6091-6093)ggfs p.G2031fs TECTA_ENST00000264037.2_Frame_Shift_Del_p.G2031fs O75443 TECTA_HUMAN tectorin alpha 2031 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) TAAATTCATAGGGGATTACGA 0.448 22 124 --- --- --- --- GDF3 9573 broad.mit.edu 37 12 7843285 7843285 + Frame_Shift_Del DEL G G - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr12:7843285delG ENST00000329913.3 - 2 331 c.284delC c.(283-285)cafs p.P95fs NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 95 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 AATTTTCTTTGGGTAAAGAAA 0.428 14 85 --- --- --- --- ZMYM2 7750 broad.mit.edu 37 13 20567946 20567946 + Frame_Shift_Del DEL C C - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:20567946delC ENST00000382869.3 + 3 985 c.734delC c.(733-735)acfs p.T245fs ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.T245fs|ZMYM2_ENST00000382881.3_Intron|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.T245fs NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CAAACATACACCCCATCTTTA 0.393 21 153 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27259883 27259883 + Frame_Shift_Del DEL G G - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr13:27259883delG ENST00000361042.4 + 10 1626 c.1401delG c.(1399-1401)gtfs p.V467fs WASF3_ENST00000335327.5_Frame_Shift_Del_p.V470fs Q9UPY6 WASF3_HUMAN WAS protein family, member 3 470 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GGGAGCCAGTGGGGAATGACG 0.577 8 65 --- --- --- --- IGHV4OR15-8 28317 broad.mit.edu 37 15 22473028 22473029 + RNA INS - - G rs3814940 by1000genomes TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr15:22473028_22473029insG ENST00000557788.2 - 0 241_242 TCTTGAGGGACGGGTTGTAGTT 0.564 7 377 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60342474 60342474 + RNA DEL G G - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:60342474delG ENST00000581291.1 - 0 1679 breast(2)|kidney(1)|lung(2) 5 TAGCTCTGAAGGGGGTGCCCT 0.612 17 100 --- --- --- --- HELZ 9931 broad.mit.edu 37 17 65163733 65163736 + Frame_Shift_Del DEL AATA AATA - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr17:65163733_65163736delAATA ENST00000358691.5 - 14 1773_1776 c.1607_1610delTATT c.(1606-1611)tafs p.LL536fs HELZ_ENST00000580168.1_Frame_Shift_Del_p.LL536fs NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGGGACTGGTAATAAATAAACAGC 0.368 16 82 --- --- --- --- CDH7 1005 broad.mit.edu 37 18 63530030 63530031 + Frame_Shift_Ins INS - - GA rs114470266 by1000genomes TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr18:63530030_63530031insGA ENST00000536984.2 + 11 2435_2436 c.1741_1742insGA c.(1741-1743)cgtfs p.R581fs CDH7_ENST00000397968.2_Frame_Shift_Ins_p.R581fs|CDH7_ENST00000323011.3_Frame_Shift_Ins_p.R581fs Q9ULB5 CADH7_HUMAN cadherin 7, type 2 581 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CCTCACCATCCGCGTGTGTGAC 0.535 14 71 --- --- --- --- KEAP1 9817 broad.mit.edu 37 19 10597367 10597367 + Frame_Shift_Del DEL G G - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:10597367delG ENST00000171111.5 - 6 2383 c.1836delC c.(1834-1836)ccfs p.P612fs KEAP1_ENST00000393623.2_Frame_Shift_Del_p.P612fs NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCTTCCGGCAGGGCTCCATGG 0.527 21 152 --- --- --- --- MEF2B 100271849 broad.mit.edu 37 19 19258547 19258547 + Frame_Shift_Del DEL C C - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr19:19258547delC ENST00000602424.2 - 6 1079 c.353delG c.(352-354)gcfs p.G118fs MEF2B_ENST00000424583.2_Frame_Shift_Del_p.G118fs|MEF2B_ENST00000409447.2_Frame_Shift_Del_p.G118fs|MEF2BNB-MEF2B_ENST00000444486.3_Frame_Shift_Del_p.G118fs|MEF2B_ENST00000409224.1_Frame_Shift_Del_p.G121fs|MEF2BNB-MEF2B_ENST00000514819.3_Frame_Shift_Del_p.G135fs|MEF2B_ENST00000162023.5_Frame_Shift_Del_p.G118fs|MEF2B_ENST00000410050.1_Frame_Shift_Del_p.G118fs|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR NM_005919.3 NP_005910.1 myocyte enhancer factor 2B breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) ACCCCCTTCGCCTGCCAGCCT 0.627 16 59 --- --- --- --- TRMT6 51605 broad.mit.edu 37 20 5930980 5930997 + In_Frame_Del DEL GTCGCCGTCGCGGATGCG GTCGCCGTCGCGGATGCG - rs138297718 by1000genomes TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr20:5930980_5930997delGTCGCCGTCGCGGATGCG ENST00000203001.2 - 1 185_202 c.55_72delCGCATCCGCGACGGCGAC c.(55-72)del p.RIRDGD19del TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 19 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 GCACCACGAAGTCGCCGTCGCGGATGCGGTGGTCTCCG 0.628 7 111 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 4 6 --- --- --- --- CHM 1121 broad.mit.edu 37 X 85211223 85211223 + Frame_Shift_Del DEL C C - TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e0426ee-0178-4925-a895-851f9b7a1b00 1e16ed84-9e7e-4ab6-a83b-a03ab0308fed g.chrX:85211223delC ENST00000357749.2 - 8 1130 c.1101delG c.(1099-1101)cgfs p.R367fs CHM_ENST00000537751.1_Frame_Shift_Del_p.R219fs|CHM_ENST00000467744.1_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 367 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TGTTGCCATACCGCCCAAGAC 0.418 9 40 --- --- --- ---